Disease associated variation - ClinVar |
Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
39816 | single nucleotide variant | NM_138361.5(LRSAM1):c.1914G>A (p.Glu638=) | 387907032 | MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319 | 9 | 130263290 | 130263290 | G | A |
39816 | single nucleotide variant | NM_138361.5(LRSAM1):c.1914G>A (p.Glu638=) | 387907032 | MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319 | 9 | 127501011 | 127501011 | G | A |
39817 | duplication | NM_138361.5(LRSAM1):c.2121_2122dupGC (p.Leu708Argfs) | 786200930 | MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C0007959;MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319 | 9 | 130265127 | 130265128 | GC | GCGC |
39817 | duplication | NM_138361.5(LRSAM1):c.2121_2122dupGC (p.Leu708Argfs) | 786200930 | MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C0007959;MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319 | 9 | 127502848 | 127502849 | GC | GCGC |
49853 | single nucleotide variant | LRSAM1, IVS24AS, G-A, -1 | -1 | MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319 | na | -1 | -1 | na | na |
165508 | single nucleotide variant | NM_138361.5(LRSAM1):c.1046A>G (p.Gln349Arg) | 200595164 | MedGen:CN221809 | 9 | 130243464 | 130243464 | A | G |
165508 | single nucleotide variant | NM_138361.5(LRSAM1):c.1046A>G (p.Gln349Arg) | 200595164 | MedGen:CN221809 | 9 | 127481185 | 127481185 | A | G |
200697 | single nucleotide variant | NM_138361.5(LRSAM1):c.1913-1G>A | 756880678 | MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C0007959 | 9 | 130263288 | 130263288 | G | A |
200697 | single nucleotide variant | NM_138361.5(LRSAM1):c.1913-1G>A | 756880678 | MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:C0007959 | 9 | 127501009 | 127501009 | G | A |
205258 | single nucleotide variant | NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) | 797044913 | MeSH:D030342,MedGen:C0950123 | 9 | 130265126 | 130265126 | C | T |
205258 | single nucleotide variant | NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) | 797044913 | MeSH:D030342,MedGen:C0950123 | 9 | 127502847 | 127502847 | C | T |
231712 | single nucleotide variant | NM_138361.5(LRSAM1):c.136T>C (p.Phe46Leu) | 546739304 | MedGen:CN169374 | 9 | 130217861 | 130217861 | T | C |
231712 | single nucleotide variant | NM_138361.5(LRSAM1):c.136T>C (p.Phe46Leu) | 546739304 | MedGen:CN169374 | 9 | 127455582 | 127455582 | T | C |
231715 | single nucleotide variant | NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) | 117692127 | MedGen:CN221809;MedGen:CN169374 | 9 | 127459018 | 127459018 | G | A |
231715 | single nucleotide variant | NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) | 117692127 | MedGen:CN221809;MedGen:CN169374 | 9 | 130221297 | 130221297 | G | A |
231716 | single nucleotide variant | NM_138361.5(LRSAM1):c.1877T>G (p.Val626Gly) | 574202204 | MedGen:CN169374 | 9 | 127497299 | 127497299 | T | G |
231716 | single nucleotide variant | NM_138361.5(LRSAM1):c.1877T>G (p.Val626Gly) | 574202204 | MedGen:CN169374 | 9 | 130259578 | 130259578 | T | G |
231717 | deletion | NM_138361.5(LRSAM1):c.2003_2015delTGGAGGTGCAGGC (p.Leu668Profs) | 876661208 | MedGen:CN221809 | 9 | 127501100 | 127501112 | TGGAGGTGCAGGC | - |
231717 | deletion | NM_138361.5(LRSAM1):c.2003_2015delTGGAGGTGCAGGC (p.Leu668Profs) | 876661208 | MedGen:CN221809 | 9 | 130263379 | 130263391 | TGGAGGTGCAGGC | - |
231718 | single nucleotide variant | NM_138361.5(LRSAM1):c.2011C>T (p.Gln671Ter) | 876661247 | MedGen:CN221809 | 9 | 127501108 | 127501108 | C | T |
231718 | single nucleotide variant | NM_138361.5(LRSAM1):c.2011C>T (p.Gln671Ter) | 876661247 | MedGen:CN221809 | 9 | 130263387 | 130263387 | C | T |
231719 | single nucleotide variant | NM_138361.5(LRSAM1):c.569G>A (p.Arg190Gln) | 142782210 | MedGen:CN239171;MedGen:CN169374 | 9 | 127467780 | 127467780 | G | A |
231719 | single nucleotide variant | NM_138361.5(LRSAM1):c.569G>A (p.Arg190Gln) | 142782210 | MedGen:CN239171;MedGen:CN169374 | 9 | 130230059 | 130230059 | G | A |
240443 | single nucleotide variant | NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) | 56380300 | MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319;MedGen:CN239171;MedGen:CN169374 | 9 | 130242179 | 130242179 | A | G |
240443 | single nucleotide variant | NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) | 56380300 | MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319;MedGen:CN239171;MedGen:CN169374 | 9 | 127479900 | 127479900 | A | G |
240444 | single nucleotide variant | NM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter) | 138226428 | MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319 | 9 | 130249974 | 130249974 | C | T |
240444 | single nucleotide variant | NM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter) | 138226428 | MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319 | 9 | 127487695 | 127487695 | C | T |
240445 | single nucleotide variant | NM_138361.5(LRSAM1):c.1830+6C>T | 75171318 | MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319;MedGen:CN239171 | 9 | 130258380 | 130258380 | C | T |
240445 | single nucleotide variant | NM_138361.5(LRSAM1):c.1830+6C>T | 75171318 | MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319;MedGen:CN239171 | 9 | 127496101 | 127496101 | C | T |
240446 | single nucleotide variant | NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys) | 201284198 | MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319;MedGen:CN239171 | 9 | 130263306 | 130263306 | G | T |
240446 | single nucleotide variant | NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys) | 201284198 | MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319;MedGen:CN239171 | 9 | 127501027 | 127501027 | G | T |
244017 | single nucleotide variant | NM_001005373.3(LRSAM1):c.2068T>C (p.Cys690Arg) | 879253755 | MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319 | 9 | 130265074 | 130265074 | T | C |
244017 | single nucleotide variant | NM_001005373.3(LRSAM1):c.2068T>C (p.Cys690Arg) | 879253755 | MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319 | 9 | 127502795 | 127502795 | T | C |
244538 | single nucleotide variant | NM_138361.5(LRSAM1):c.184G>A (p.Val62Ile) | 570688892 | MedGen:CN169374 | 9 | 130219604 | 130219604 | G | A |
244538 | single nucleotide variant | NM_138361.5(LRSAM1):c.184G>A (p.Val62Ile) | 570688892 | MedGen:CN169374 | 9 | 127457325 | 127457325 | G | A |
244539 | single nucleotide variant | NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser) | 148059394 | MedGen:CN169374 | 9 | 130230076 | 130230076 | G | A |
244539 | single nucleotide variant | NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser) | 148059394 | MedGen:CN169374 | 9 | 127467797 | 127467797 | G | A |
244540 | single nucleotide variant | NM_138361.5(LRSAM1):c.1514C>T (p.Ser505Leu) | 146106537 | MedGen:CN169374 | 9 | 130255091 | 130255091 | C | T |
244540 | single nucleotide variant | NM_138361.5(LRSAM1):c.1514C>T (p.Ser505Leu) | 146106537 | MedGen:CN169374 | 9 | 127492812 | 127492812 | C | T |
244541 | single nucleotide variant | NM_138361.5(LRSAM1):c.1870C>G (p.Arg624Gly) | 375938990 | MedGen:CN169374 | 9 | 130259571 | 130259571 | C | G |
244541 | single nucleotide variant | NM_138361.5(LRSAM1):c.1870C>G (p.Arg624Gly) | 375938990 | MedGen:CN169374 | 9 | 127497292 | 127497292 | C | G |
244542 | single nucleotide variant | NM_138361.5(LRSAM1):c.1939G>A (p.Val647Ile) | 879254326 | MedGen:CN169374 | 9 | 130263315 | 130263315 | G | A |
244542 | single nucleotide variant | NM_138361.5(LRSAM1):c.1939G>A (p.Val647Ile) | 879254326 | MedGen:CN169374 | 9 | 127501036 | 127501036 | G | A |
244543 | single nucleotide variant | NM_138361.5(LRSAM1):c.1975G>A (p.Val659Met) | 140786088 | MedGen:CN239171;MedGen:CN169374 | 9 | 127501072 | 127501072 | G | A |
244543 | single nucleotide variant | NM_138361.5(LRSAM1):c.1975G>A (p.Val659Met) | 140786088 | MedGen:CN239171;MedGen:CN169374 | 9 | 130263351 | 130263351 | G | A |
244544 | single nucleotide variant | NM_138361.5(LRSAM1):c.2050C>T (p.Gln684Ter) | 879254056 | MedGen:CN221809 | 9 | 130265056 | 130265056 | C | T |
244544 | single nucleotide variant | NM_138361.5(LRSAM1):c.2050C>T (p.Gln684Ter) | 879254056 | MedGen:CN221809 | 9 | 127502777 | 127502777 | C | T |
263456 | single nucleotide variant | NM_138361.5(LRSAM1):c.2081G>A (p.Cys694Tyr) | 886041051 | MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319 | 9 | 130265087 | 130265087 | G | A |
263456 | single nucleotide variant | NM_138361.5(LRSAM1):c.2081G>A (p.Cys694Tyr) | 886041051 | MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319 | 9 | 127502808 | 127502808 | G | A |
272799 | single nucleotide variant | NM_138361.5(LRSAM1):c.1781G>A (p.Arg594His) | 537838691 | MedGen:CN169374 | 9 | 130258325 | 130258325 | G | A |
272799 | single nucleotide variant | NM_138361.5(LRSAM1):c.1781G>A (p.Arg594His) | 537838691 | MedGen:CN169374 | 9 | 127496046 | 127496046 | G | A |
306822 | single nucleotide variant | NM_138361.5(LRSAM1):c.249C>T (p.Ile83=) | 2243906 | MedGen:CN239171 | 9 | 130219669 | 130219669 | C | T |
306822 | single nucleotide variant | NM_138361.5(LRSAM1):c.249C>T (p.Ile83=) | 2243906 | MedGen:CN239171 | 9 | 127457390 | 127457390 | C | T |
306826 | single nucleotide variant | NM_138361.5(LRSAM1):c.458G>A (p.Arg153His) | 368689811 | MedGen:CN239171 | 9 | 130224582 | 130224582 | G | A |
306826 | single nucleotide variant | NM_138361.5(LRSAM1):c.458G>A (p.Arg153His) | 368689811 | MedGen:CN239171 | 9 | 127462303 | 127462303 | G | A |
306829 | single nucleotide variant | NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys) | 563259179 | MedGen:CN239171 | 9 | 130236145 | 130236145 | G | A |
306829 | single nucleotide variant | NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys) | 563259179 | MedGen:CN239171 | 9 | 127473866 | 127473866 | G | A |
306840 | single nucleotide variant | NM_138361.5(LRSAM1):c.1199G>A (p.Arg400Gln) | 150344223 | MedGen:CN239171 | 9 | 127485775 | 127485775 | G | A |
306833 | single nucleotide variant | NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) | 1539567 | MedGen:CN239171 | 9 | 130242166 | 130242166 | A | G |
306833 | single nucleotide variant | NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) | 1539567 | MedGen:CN239171 | 9 | 127479887 | 127479887 | A | G |
306839 | single nucleotide variant | NM_138361.5(LRSAM1):c.1011C>T (p.Ser337=) | 886063456 | MedGen:CN239171 | 9 | 130242225 | 130242225 | C | T |
306839 | single nucleotide variant | NM_138361.5(LRSAM1):c.1011C>T (p.Ser337=) | 886063456 | MedGen:CN239171 | 9 | 127479946 | 127479946 | C | T |
306840 | single nucleotide variant | NM_138361.5(LRSAM1):c.1199G>A (p.Arg400Gln) | 150344223 | MedGen:CN239171 | 9 | 130248054 | 130248054 | G | A |
310978 | single nucleotide variant | NM_138361.5(LRSAM1):c.-401C>T | 886063450 | MedGen:CN239171 | 9 | 130213995 | 130213995 | C | T |
310978 | single nucleotide variant | NM_138361.5(LRSAM1):c.-401C>T | 886063450 | MedGen:CN239171 | 9 | 127451716 | 127451716 | C | T |
310981 | single nucleotide variant | NM_138361.5(LRSAM1):c.-309A>G | 886063453 | MedGen:CN239171 | 9 | 130214087 | 130214087 | A | G |
310981 | single nucleotide variant | NM_138361.5(LRSAM1):c.-309A>G | 886063453 | MedGen:CN239171 | 9 | 127451808 | 127451808 | A | G |
310983 | single nucleotide variant | NM_138361.5(LRSAM1):c.480C>T (p.Asn160=) | 147205387 | MedGen:CN239171 | 9 | 130224604 | 130224604 | C | T |
310983 | single nucleotide variant | NM_138361.5(LRSAM1):c.480C>T (p.Asn160=) | 147205387 | MedGen:CN239171 | 9 | 127462325 | 127462325 | C | T |
310994 | single nucleotide variant | NM_138361.5(LRSAM1):c.904-9C>T | 1539568 | MedGen:CN239171 | 9 | 130242109 | 130242109 | C | T |
310994 | single nucleotide variant | NM_138361.5(LRSAM1):c.904-9C>T | 1539568 | MedGen:CN239171 | 9 | 127479830 | 127479830 | C | T |
310995 | single nucleotide variant | NM_138361.5(LRSAM1):c.1504-5C>G | 377190920 | MedGen:CN239171 | 9 | 127492797 | 127492797 | C | G |
310995 | single nucleotide variant | NM_138361.5(LRSAM1):c.1504-5C>G | 377190920 | MedGen:CN239171 | 9 | 130255076 | 130255076 | C | G |
310996 | single nucleotide variant | NM_138361.5(LRSAM1):c.1912+5A>C | 2248822 | MedGen:CN239171 | 9 | 127497339 | 127497339 | A | C |
310996 | single nucleotide variant | NM_138361.5(LRSAM1):c.1912+5A>C | 2248822 | MedGen:CN239171 | 9 | 130259618 | 130259618 | A | C |
311000 | single nucleotide variant | NM_138361.5(LRSAM1):c.*57G>A | 549468112 | MedGen:CN239171 | 9 | 127502956 | 127502956 | G | A |
311000 | single nucleotide variant | NM_138361.5(LRSAM1):c.*57G>A | 549468112 | MedGen:CN239171 | 9 | 130265235 | 130265235 | G | A |
311001 | deletion | NM_138361.5(LRSAM1):c.*105delC | 886063458 | MedGen:CN239171 | 9 | 127503004 | 127503004 | C | - |
311001 | deletion | NM_138361.5(LRSAM1):c.*105delC | 886063458 | MedGen:CN239171 | 9 | 130265283 | 130265283 | C | - |
311002 | single nucleotide variant | NM_138361.5(LRSAM1):c.*238G>A | 886063459 | MedGen:CN239171 | 9 | 127503137 | 127503137 | G | A |
311002 | single nucleotide variant | NM_138361.5(LRSAM1):c.*238G>A | 886063459 | MedGen:CN239171 | 9 | 130265416 | 130265416 | G | A |
311003 | single nucleotide variant | NM_138361.5(LRSAM1):c.*350C>A | 764119919 | MedGen:CN239171 | 9 | 127503249 | 127503249 | C | A |
311003 | single nucleotide variant | NM_138361.5(LRSAM1):c.*350C>A | 764119919 | MedGen:CN239171 | 9 | 130265528 | 130265528 | C | A |
311005 | single nucleotide variant | NM_138361.5(LRSAM1):c.*590T>C | 139260397 | MedGen:CN239171 | 9 | 127503489 | 127503489 | T | C |
311005 | single nucleotide variant | NM_138361.5(LRSAM1):c.*590T>C | 139260397 | MedGen:CN239171 | 9 | 130265768 | 130265768 | T | C |
311010 | single nucleotide variant | NM_138361.5(LRSAM1):c.*597T>G | 751523580 | MedGen:CN239171 | 9 | 127503496 | 127503496 | T | G |
311010 | single nucleotide variant | NM_138361.5(LRSAM1):c.*597T>G | 751523580 | MedGen:CN239171 | 9 | 130265775 | 130265775 | T | G |
316570 | deletion | NM_138361.5(LRSAM1):c.-328_-326delTGT | 886063452 | MedGen:CN239171 | 9 | 130214068 | 130214070 | TGT | - |
316570 | deletion | NM_138361.5(LRSAM1):c.-328_-326delTGT | 886063452 | MedGen:CN239171 | 9 | 127451789 | 127451791 | TGT | - |
316571 | single nucleotide variant | NM_138361.5(LRSAM1):c.284C>T (p.Ala95Val) | 570248730 | MedGen:CN239171 | 9 | 130221313 | 130221313 | C | T |
316571 | single nucleotide variant | NM_138361.5(LRSAM1):c.284C>T (p.Ala95Val) | 570248730 | MedGen:CN239171 | 9 | 127459034 | 127459034 | C | T |
316589 | single nucleotide variant | NM_138361.5(LRSAM1):c.406+15G>T | 201808404 | MedGen:CN239171 | 9 | 130223551 | 130223551 | G | T |
316589 | single nucleotide variant | NM_138361.5(LRSAM1):c.406+15G>T | 201808404 | MedGen:CN239171 | 9 | 127461272 | 127461272 | G | T |
316590 | single nucleotide variant | NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) | 75690855 | MedGen:CN239171 | 9 | 130230038 | 130230038 | C | T |
316590 | single nucleotide variant | NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) | 75690855 | MedGen:CN239171 | 9 | 127467759 | 127467759 | C | T |
316591 | single nucleotide variant | NM_138361.5(LRSAM1):c.615C>G (p.Cys205Trp) | 886063455 | MedGen:CN239171 | 9 | 130230105 | 130230105 | C | G |
316591 | single nucleotide variant | NM_138361.5(LRSAM1):c.615C>G (p.Cys205Trp) | 886063455 | MedGen:CN239171 | 9 | 127467826 | 127467826 | C | G |
316598 | single nucleotide variant | NM_138361.5(LRSAM1):c.643C>A (p.Pro215Thr) | 765389102 | MedGen:CN239171 | 9 | 130236103 | 130236103 | C | A |
316598 | single nucleotide variant | NM_138361.5(LRSAM1):c.643C>A (p.Pro215Thr) | 765389102 | MedGen:CN239171 | 9 | 127473824 | 127473824 | C | A |
316601 | single nucleotide variant | NM_138361.5(LRSAM1):c.751-8C>G | 367823841 | MedGen:CN239171 | 9 | 130241205 | 130241205 | C | G |
316601 | single nucleotide variant | NM_138361.5(LRSAM1):c.751-8C>G | 367823841 | MedGen:CN239171 | 9 | 127478926 | 127478926 | C | G |
316602 | single nucleotide variant | NM_138361.5(LRSAM1):c.954C>T (p.Asn318=) | 200527839 | MedGen:CN239171 | 9 | 130242168 | 130242168 | C | T |
316602 | single nucleotide variant | NM_138361.5(LRSAM1):c.954C>T (p.Asn318=) | 200527839 | MedGen:CN239171 | 9 | 127479889 | 127479889 | C | T |
316603 | single nucleotide variant | NM_138361.5(LRSAM1):c.1044-9T>C | 59501881 | MedGen:CN239171 | 9 | 130243453 | 130243453 | T | C |
316603 | single nucleotide variant | NM_138361.5(LRSAM1):c.1044-9T>C | 59501881 | MedGen:CN239171 | 9 | 127481174 | 127481174 | T | C |
316608 | single nucleotide variant | NM_138361.5(LRSAM1):c.1073C>T (p.Ser358Leu) | 886063457 | MedGen:CN239171 | 9 | 130243491 | 130243491 | C | T |
316608 | single nucleotide variant | NM_138361.5(LRSAM1):c.1073C>T (p.Ser358Leu) | 886063457 | MedGen:CN239171 | 9 | 127481212 | 127481212 | C | T |
316611 | single nucleotide variant | NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) | 149540339 | MedGen:CN239171 | 9 | 127485801 | 127485801 | C | G |
316611 | single nucleotide variant | NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) | 149540339 | MedGen:CN239171 | 9 | 130248080 | 130248080 | C | G |
316612 | single nucleotide variant | NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=) | 34426300 | MedGen:CN239171 | 9 | 127489464 | 127489464 | G | A |
316612 | single nucleotide variant | NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=) | 34426300 | MedGen:CN239171 | 9 | 130251743 | 130251743 | G | A |
316613 | single nucleotide variant | NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) | 139344911 | MedGen:CN239171 | 9 | 127496037 | 127496037 | C | T |
316613 | single nucleotide variant | NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) | 139344911 | MedGen:CN239171 | 9 | 130258316 | 130258316 | C | T |
316614 | single nucleotide variant | NM_138361.5(LRSAM1):c.1860C>T (p.His620=) | 147734401 | MedGen:CN239171 | 9 | 127497282 | 127497282 | C | T |
316614 | single nucleotide variant | NM_138361.5(LRSAM1):c.1860C>T (p.His620=) | 147734401 | MedGen:CN239171 | 9 | 130259561 | 130259561 | C | T |
316621 | single nucleotide variant | NM_138361.5(LRSAM1):c.1950G>A (p.Thr650=) | 199887448 | MedGen:CN239171 | 9 | 127501047 | 127501047 | G | A |
316621 | single nucleotide variant | NM_138361.5(LRSAM1):c.1950G>A (p.Thr650=) | 199887448 | MedGen:CN239171 | 9 | 130263326 | 130263326 | G | A |
316624 | single nucleotide variant | NM_138361.5(LRSAM1):c.*501C>T | 886063460 | MedGen:CN239171 | 9 | 127503400 | 127503400 | C | T |
316624 | single nucleotide variant | NM_138361.5(LRSAM1):c.*501C>T | 886063460 | MedGen:CN239171 | 9 | 130265679 | 130265679 | C | T |
316850 | single nucleotide variant | NM_138361.5(LRSAM1):c.-575C>T | 116498902 | MedGen:CN239171 | 9 | 127451542 | 127451542 | C | T |
316850 | single nucleotide variant | NM_138361.5(LRSAM1):c.-575C>T | 116498902 | MedGen:CN239171 | 9 | 130213821 | 130213821 | C | T |
316861 | single nucleotide variant | NM_138361.5(LRSAM1):c.-458A>G | 760403428 | MedGen:CN239171 | 9 | 130213938 | 130213938 | A | G |
316861 | single nucleotide variant | NM_138361.5(LRSAM1):c.-458A>G | 760403428 | MedGen:CN239171 | 9 | 127451659 | 127451659 | A | G |
316870 | single nucleotide variant | NM_138361.5(LRSAM1):c.-338G>A | 886063451 | MedGen:CN239171 | 9 | 130214058 | 130214058 | G | A |
316870 | single nucleotide variant | NM_138361.5(LRSAM1):c.-338G>A | 886063451 | MedGen:CN239171 | 9 | 127451779 | 127451779 | G | A |
316871 | single nucleotide variant | NM_138361.5(LRSAM1):c.-78C>T | 886063454 | MedGen:CN239171 | 9 | 130214318 | 130214318 | C | T |
316871 | single nucleotide variant | NM_138361.5(LRSAM1):c.-78C>T | 886063454 | MedGen:CN239171 | 9 | 127452039 | 127452039 | C | T |
316872 | single nucleotide variant | NM_138361.5(LRSAM1):c.804C>T (p.Leu268=) | 771510127 | MedGen:CN239171 | 9 | 130241685 | 130241685 | C | T |
316872 | single nucleotide variant | NM_138361.5(LRSAM1):c.804C>T (p.Leu268=) | 771510127 | MedGen:CN239171 | 9 | 127479406 | 127479406 | C | T |
316894 | single nucleotide variant | NM_138361.5(LRSAM1):c.1746G>A (p.Ser582=) | 199997686 | MedGen:CN239171 | 9 | 127496011 | 127496011 | G | A |
316894 | single nucleotide variant | NM_138361.5(LRSAM1):c.1746G>A (p.Ser582=) | 199997686 | MedGen:CN239171 | 9 | 130258290 | 130258290 | G | A |
316898 | single nucleotide variant | NM_138361.5(LRSAM1):c.*588T>A | 886063461 | MedGen:CN239171 | 9 | 127503487 | 127503487 | T | A |
316898 | single nucleotide variant | NM_138361.5(LRSAM1):c.*588T>A | 886063461 | MedGen:CN239171 | 9 | 130265766 | 130265766 | T | A |
361516 | single nucleotide variant | NM_138361.5(LRSAM1):c.1026G>T (p.Leu342=) | 367599324 | MedGen:CN221809 | 9 | 127479961 | 127479961 | G | T |
361516 | single nucleotide variant | NM_138361.5(LRSAM1):c.1026G>T (p.Leu342=) | 367599324 | MedGen:CN221809 | 9 | 130242240 | 130242240 | G | T |
361517 | single nucleotide variant | NM_138361.5(LRSAM1):c.1027C>T (p.Leu343=) | 369353985 | MedGen:CN221809 | 9 | 127479962 | 127479962 | C | T |
361517 | single nucleotide variant | NM_138361.5(LRSAM1):c.1027C>T (p.Leu343=) | 369353985 | MedGen:CN221809 | 9 | 130242241 | 130242241 | C | T |