Mutation - TCGA |
Type | Chromosome | Start Position | End Position | Strand | Variant Classification | Variant Type | Reference Allele | Tumor_seq Allele 1 | Tumor_seq Allele 2 | Tumor Sample Barcode | Matched Norm Sample Barcode | Genome Change | cDNA Change | Codon Change | Protein Change |
BLCA | 16 | 734745 | 734745 | + | Missense_Mutation | SNP | C | C | T | TCGA-DK-A6B6-01A-11D-A30E-08 | TCGA-DK-A6B6-10A-01D-A30H-08 | g.chr16:734745C>T | c.2752G>A | c.(2752-2754)Gag>Aag | p.E918K |
BLCA | 16 | 735419 | 735419 | + | Silent | SNP | G | G | C | TCGA-BT-A20N-01A-11D-A14W-08 | TCGA-BT-A20N-11A-11D-A14W-08 | g.chr16:735419G>C | c.2247C>G | c.(2245-2247)gtC>gtG | p.V749V |
BLCA | 16 | 735939 | 735939 | + | Missense_Mutation | SNP | G | G | C | TCGA-DK-A3X1-01A-12D-A22Z-08 | TCGA-DK-A3X1-10A-01D-A22Z-08 | g.chr16:735939G>C | c.1893C>G | c.(1891-1893)gaC>gaG | p.D631E |
BLCA | 16 | 735981 | 735981 | + | Silent | SNP | C | C | A | TCGA-C4-A0EZ-01A-21D-A10S-08 | TCGA-C4-A0EZ-10A-01D-A10S-08 | g.chr16:735981C>A | c.1851G>T | c.(1849-1851)ctG>ctT | p.L617L |
BLCA | 16 | 736875 | 736875 | + | Missense_Mutation | SNP | C | C | G | TCGA-4Z-AA7M-01A-11D-A391-08 | TCGA-4Z-AA7M-10A-01D-A394-08 | g.chr16:736875C>G | c.1591G>C | c.(1591-1593)Gag>Cag | p.E531Q |
BLCA | 16 | 737292 | 737292 | + | Missense_Mutation | SNP | C | C | T | TCGA-CF-A1HS-01A-11D-A13W-08 | TCGA-CF-A1HS-10A-01D-A13W-08 | g.chr16:737292C>T | c.1174G>A | c.(1174-1176)Gag>Aag | p.E392K |
BRCA | 16 | 735108 | 735109 | + | Frame_Shift_Ins | INS | - | - | A | TCGA-E9-A1RF-01A-11D-A159-09 | TCGA-E9-A1RF-10A-01D-A159-09 | g.chr16:735108_735109insA | c.2477_2478insT | c.(2476-2478)gtgfs | p.V826fs |
BRCA | 16 | 735944 | 735944 | + | Silent | SNP | G | G | A | TCGA-AC-A23H-01A-11D-A159-09 | TCGA-AC-A23H-11A-12D-A17G-09 | g.chr16:735944G>A | c.1888C>T | c.(1888-1890)Ctg>Ttg | p.L630L |
BRCA | 16 | 737252 | 737252 | + | Missense_Mutation | SNP | T | T | A | TCGA-AC-A5EH-01A-11D-A28B-09 | TCGA-AC-A5EH-10A-01D-A28E-09 | g.chr16:737252T>A | c.1214A>T | c.(1213-1215)gAc>gTc | p.D405V |
BRCA | 16 | 737628 | 737628 | + | Missense_Mutation | SNP | C | C | T | TCGA-AR-A0U2-01A-11D-A10G-09 | TCGA-AR-A0U2-10A-01D-A10G-09 | g.chr16:737628C>T | c.983G>A | c.(982-984)cGg>cAg | p.R328Q |
CESC | 16 | 736989 | 736989 | + | Missense_Mutation | SNP | C | C | T | TCGA-C5-A3HD-01B-11D-A20U-09 | TCGA-C5-A3HD-10A-01D-A20U-09 | g.chr16:736989C>T | c.1477G>A | c.(1477-1479)Gag>Aag | p.E493K |
CESC | 16 | 737621 | 737621 | + | Silent | SNP | C | C | T | TCGA-C5-A3HD-01B-11D-A20U-09 | TCGA-C5-A3HD-10A-01D-A20U-09 | g.chr16:737621C>T | c.990G>A | c.(988-990)gaG>gaA | p.E330E |
CESC | 16 | 739196 | 739196 | + | Missense_Mutation | SNP | C | C | G | TCGA-IR-A3LH-01A-21D-A20U-09 | TCGA-IR-A3LH-10A-01D-A20U-09 | g.chr16:739196C>G | c.631G>C | c.(631-633)Gac>Cac | p.D211H |
COAD | 16 | 735686 | 735686 | + | Silent | SNP | G | G | A | TCGA-A6-5665-01A-01D-1650-10 | TCGA-A6-5665-10A-01D-1650-10 | g.chr16:735686G>A | c.2061C>T | c.(2059-2061)caC>caT | p.H687H |
COAD | 16 | 735946 | 735946 | + | Missense_Mutation | SNP | C | C | T | TCGA-AA-3511-01A-21D-1835-10 | TCGA-AA-3511-11A-01D-1835-10 | g.chr16:735946C>T | c.1886G>A | c.(1885-1887)cGg>cAg | p.R629Q |
COAD | 16 | 736959 | 736959 | + | Missense_Mutation | SNP | G | G | A | TCGA-AZ-6601-01A-11D-1771-10 | TCGA-AZ-6601-11A-01D-1771-10 | g.chr16:736959G>A | c.1507C>T | c.(1507-1509)Cgg>Tgg | p.R503W |
COAD | 16 | 737323 | 737323 | + | Silent | SNP | G | G | A | TCGA-A6-5659-01A-01D-1650-10 | TCGA-A6-5659-11A-01D-1650-10 | g.chr16:737323G>A | c.1143C>T | c.(1141-1143)atC>atT | p.I381I |
COAD | 16 | 737726 | 737726 | + | Silent | SNP | G | G | A | TCGA-G4-6586-01A-11D-1771-10 | TCGA-G4-6586-10A-01D-1771-10 | g.chr16:737726G>A | c.885C>T | c.(883-885)agC>agT | p.S295S |
COAD | 16 | 739275 | 739275 | + | Silent | SNP | C | C | A | TCGA-G4-6299-01A-11D-1771-10 | TCGA-G4-6299-10A-01D-1771-10 | g.chr16:739275C>A | c.552G>T | c.(550-552)acG>acT | p.T184T |
COAD | 16 | 739277 | 739277 | + | Missense_Mutation | SNP | T | T | C | TCGA-CK-5914-01A-11D-1650-10 | TCGA-CK-5914-10A-01D-1650-10 | g.chr16:739277T>C | c.550A>G | c.(550-552)Acg>Gcg | p.T184A |
COAD | 16 | 739418 | 739418 | + | Silent | SNP | G | G | A | TCGA-AD-6895-01A-11D-1924-10 | TCGA-AD-6895-10A-01D-1924-10 | g.chr16:739418G>A | c.409C>T | c.(409-411)Ctg>Ttg | p.L137L |
COAD | 16 | 739435 | 739435 | + | Missense_Mutation | SNP | C | C | T | TCGA-AZ-6601-01A-11D-1771-10 | TCGA-AZ-6601-11A-01D-1771-10 | g.chr16:739435C>T | c.392G>A | c.(391-393)cGc>cAc | p.R131H |
COAD | 16 | 739463 | 739463 | + | Missense_Mutation | SNP | C | C | T | TCGA-A6-5660-01A-01D-1650-10 | TCGA-A6-5660-10A-01D-1650-10 | g.chr16:739463C>T | c.364G>A | c.(364-366)Gtg>Atg | p.V122M |
COAD | 16 | 739515 | 739515 | + | Silent | SNP | G | G | A | TCGA-AA-3864-01A-01W-0995-10 | TCGA-AA-3864-10A-01W-0995-10 | g.chr16:739515G>A | c.312C>T | c.(310-312)gtC>gtT | p.V104V |
COAD | 16 | 739515 | 739515 | + | Silent | SNP | G | G | A | TCGA-AU-6004-01A-11D-1719-10 | TCGA-AU-6004-10A-01D-1719-10 | g.chr16:739515G>A | c.312C>T | c.(310-312)gtC>gtT | p.V104V |
COADREAD | 16 | 735686 | 735686 | + | Silent | SNP | G | G | A | TCGA-A6-5665-01A-01D-1650-10 | TCGA-A6-5665-10A-01D-1650-10 | g.chr16:735686G>A | c.2061C>T | c.(2059-2061)caC>caT | p.H687H |
COADREAD | 16 | 735946 | 735946 | + | Missense_Mutation | SNP | C | C | T | TCGA-AA-3511-01A-21D-1835-10 | TCGA-AA-3511-11A-01D-1835-10 | g.chr16:735946C>T | c.1886G>A | c.(1885-1887)cGg>cAg | p.R629Q |
COADREAD | 16 | 736959 | 736959 | + | Missense_Mutation | SNP | G | G | A | TCGA-AZ-6601-01A-11D-1771-10 | TCGA-AZ-6601-11A-01D-1771-10 | g.chr16:736959G>A | c.1507C>T | c.(1507-1509)Cgg>Tgg | p.R503W |
COADREAD | 16 | 737323 | 737323 | + | Silent | SNP | G | G | A | TCGA-A6-5659-01A-01D-1650-10 | TCGA-A6-5659-11A-01D-1650-10 | g.chr16:737323G>A | c.1143C>T | c.(1141-1143)atC>atT | p.I381I |
COADREAD | 16 | 737726 | 737726 | + | Silent | SNP | G | G | A | TCGA-G4-6586-01A-11D-1771-10 | TCGA-G4-6586-10A-01D-1771-10 | g.chr16:737726G>A | c.885C>T | c.(883-885)agC>agT | p.S295S |
COADREAD | 16 | 739275 | 739275 | + | Silent | SNP | C | C | A | TCGA-G4-6299-01A-11D-1771-10 | TCGA-G4-6299-10A-01D-1771-10 | g.chr16:739275C>A | c.552G>T | c.(550-552)acG>acT | p.T184T |
COADREAD | 16 | 739277 | 739277 | + | Missense_Mutation | SNP | T | T | C | TCGA-CK-5914-01A-11D-1650-10 | TCGA-CK-5914-10A-01D-1650-10 | g.chr16:739277T>C | c.550A>G | c.(550-552)Acg>Gcg | p.T184A |
COADREAD | 16 | 739418 | 739418 | + | Silent | SNP | G | G | A | TCGA-AD-6895-01A-11D-1924-10 | TCGA-AD-6895-10A-01D-1924-10 | g.chr16:739418G>A | c.409C>T | c.(409-411)Ctg>Ttg | p.L137L |
COADREAD | 16 | 739435 | 739435 | + | Missense_Mutation | SNP | C | C | T | TCGA-AZ-6601-01A-11D-1771-10 | TCGA-AZ-6601-11A-01D-1771-10 | g.chr16:739435C>T | c.392G>A | c.(391-393)cGc>cAc | p.R131H |
COADREAD | 16 | 739463 | 739463 | + | Missense_Mutation | SNP | C | C | T | TCGA-A6-5660-01A-01D-1650-10 | TCGA-A6-5660-10A-01D-1650-10 | g.chr16:739463C>T | c.364G>A | c.(364-366)Gtg>Atg | p.V122M |
COADREAD | 16 | 739515 | 739515 | + | Silent | SNP | G | G | A | TCGA-AA-3864-01A-01W-0995-10 | TCGA-AA-3864-10A-01W-0995-10 | g.chr16:739515G>A | c.312C>T | c.(310-312)gtC>gtT | p.V104V |
COADREAD | 16 | 739515 | 739515 | + | Silent | SNP | G | G | A | TCGA-AU-6004-01A-11D-1719-10 | TCGA-AU-6004-10A-01D-1719-10 | g.chr16:739515G>A | c.312C>T | c.(310-312)gtC>gtT | p.V104V |
DLBC | 16 | 735417 | 735417 | + | Nonsense_Mutation | SNP | G | G | C | TCGA-GS-A9TZ-01A-11D-A38X-10 | TCGA-GS-A9TZ-10A-01D-A38X-10 | g.chr16:735417G>C | c.2249C>G | c.(2248-2250)tCa>tGa | p.S750* |
ESCA | 16 | 736118 | 736118 | + | Silent | SNP | G | G | T | TCGA-LN-A4A3-01A-11D-A27G-09 | TCGA-LN-A4A3-10A-01D-A27G-09 | g.chr16:736118G>T | c.1791C>A | c.(1789-1791)ctC>ctA | p.L597L |
GBMLGG | 16 | 737585 | 737585 | + | Silent | SNP | G | G | A | TCGA-DU-6392-01A-11D-1705-08 | TCGA-DU-6392-10A-01D-1705-08 | g.chr16:737585G>A | c.1026C>T | c.(1024-1026)tgC>tgT | p.C342C |
GBMLGG | 16 | 739166 | 739166 | + | Missense_Mutation | SNP | A | A | T | TCGA-DH-A66B-01A-11D-A29Q-08 | TCGA-DH-A66B-10A-01D-A29Q-08 | g.chr16:739166A>T | c.661T>A | c.(661-663)Ttc>Atc | p.F221I |
HNSC | 16 | 736745 | 736745 | + | Splice_Site | SNP | T | T | A | TCGA-CV-A45W-01A-11D-A25D-08 | TCGA-CV-A45W-10A-01D-A25E-08 | g.chr16:736745T>A | c.1721A>T | c.(1720-1722)cAg>cTg | p.Q574L |
HNSC | 16 | 737322 | 737322 | + | Missense_Mutation | SNP | C | C | T | TCGA-CV-7245-01A-11D-2012-08 | TCGA-CV-7245-10A-01D-2013-08 | g.chr16:737322C>T | c.1144G>A | c.(1144-1146)Gcc>Acc | p.A382T |
HNSC | 16 | 739435 | 739435 | + | Missense_Mutation | SNP | C | C | A | TCGA-CN-4739-01A-02D-1512-08 | TCGA-CN-4739-10A-01D-1512-08 | g.chr16:739435C>A | c.392G>T | c.(391-393)cGc>cTc | p.R131L |
KIPAN | 16 | 734812 | 734812 | + | Missense_Mutation | SNP | G | G | T | TCGA-4A-A93W-01A-11D-A36X-10 | TCGA-4A-A93W-10A-01D-A370-10 | g.chr16:734812G>T | c.2685C>A | c.(2683-2685)caC>caA | p.H895Q |
KIPAN | 16 | 739631 | 739631 | + | Missense_Mutation | SNP | T | T | C | TCGA-IA-A83V-01A-11D-A34Z-10 | TCGA-IA-A83V-11A-11D-A34Z-10 | g.chr16:739631T>C | c.196A>G | c.(196-198)Atg>Gtg | p.M66V |
KIRP | 16 | 734812 | 734812 | + | Missense_Mutation | SNP | G | G | T | TCGA-4A-A93W-01A-11D-A36X-10 | TCGA-4A-A93W-10A-01D-A370-10 | g.chr16:734812G>T | c.2685C>A | c.(2683-2685)caC>caA | p.H895Q |
KIRP | 16 | 739631 | 739631 | + | Missense_Mutation | SNP | T | T | C | TCGA-IA-A83V-01A-11D-A34Z-10 | TCGA-IA-A83V-11A-11D-A34Z-10 | g.chr16:739631T>C | c.196A>G | c.(196-198)Atg>Gtg | p.M66V |
LGG | 16 | 737585 | 737585 | + | Silent | SNP | G | G | A | TCGA-DU-6392-01A-11D-1705-08 | TCGA-DU-6392-10A-01D-1705-08 | g.chr16:737585G>A | c.1026C>T | c.(1024-1026)tgC>tgT | p.C342C |
LGG | 16 | 739166 | 739166 | + | Missense_Mutation | SNP | A | A | T | TCGA-DH-A66B-01A-11D-A29Q-08 | TCGA-DH-A66B-10A-01D-A29Q-08 | g.chr16:739166A>T | c.661T>A | c.(661-663)Ttc>Atc | p.F221I |
LIHC | 16 | 735410 | 735410 | + | Silent | SNP | C | C | T | TCGA-DD-AAD1-01A-11D-A40R-10 | TCGA-DD-AAD1-10A-01D-A40U-10 | g.chr16:735410C>T | c.2256G>A | c.(2254-2256)gcG>gcA | p.A752A |
LIHC | 16 | 735892 | 735892 | + | Missense_Mutation | SNP | G | G | A | TCGA-EP-A3JL-01A-11D-A20W-10 | TCGA-EP-A3JL-10A-01D-A20W-10 | g.chr16:735892G>A | c.1940C>T | c.(1939-1941)tCg>tTg | p.S647L |
LUAD | 16 | 737292 | 737292 | + | Missense_Mutation | SNP | C | C | G | TCGA-J2-A4AD-01A-11D-A24D-08 | TCGA-J2-A4AD-10A-01D-A24F-08 | g.chr16:737292C>G | c.1174G>C | c.(1174-1176)Gag>Cag | p.E392Q |
LUAD | 16 | 739444 | 739444 | + | Missense_Mutation | SNP | C | C | T | TCGA-50-5933-01A-11D-1753-08 | TCGA-50-5933-11A-01D-1753-08 | g.chr16:739444C>T | c.383G>A | c.(382-384)cGt>cAt | p.R128H |
LUSC | 16 | 735761 | 735761 | + | Silent | SNP | G | G | A | TCGA-39-5016-01A-01D-1441-08 | TCGA-39-5016-11A-01D-1441-08 | g.chr16:735761G>A | c.1986C>T | c.(1984-1986)agC>agT | p.S662S |
LUSC | 16 | 737632 | 737632 | + | Missense_Mutation | SNP | C | C | T | TCGA-66-2770-01A-01D-1522-08 | TCGA-66-2770-11A-01D-1522-08 | g.chr16:737632C>T | c.979G>A | c.(979-981)Gac>Aac | p.D327N |
OV | 16 | 739275 | 739275 | + | Silent | SNP | C | C | T | TCGA-13-1509-01A-01W-0549-09 | TCGA-13-1509-10A-01W-0550-09 | g.chr16:739275C>T | c.552G>A | c.(550-552)acG>acA | p.T184T |
PAAD | 16 | 734755 | 734755 | + | Silent | SNP | G | G | A | TCGA-IB-7651-01A-11D-2154-08 | TCGA-IB-7651-10A-01D-2154-08 | g.chr16:734755G>A | c.2742C>T | c.(2740-2742)ggC>ggT | p.G914G |
PAAD | 16 | 737061 | 737061 | + | Missense_Mutation | SNP | T | T | A | TCGA-IB-7651-01A-11D-2154-08 | TCGA-IB-7651-10A-01D-2154-08 | g.chr16:737061T>A | c.1405A>T | c.(1405-1407)Aac>Tac | p.N469Y |
PAAD | 16 | 737187 | 737187 | + | Nonsense_Mutation | SNP | G | G | A | TCGA-IB-7651-01A-11D-2154-08 | TCGA-IB-7651-10A-01D-2154-08 | g.chr16:737187G>A | c.1279C>T | c.(1279-1281)Cga>Tga | p.R427* |
PAAD | 16 | 739280 | 739280 | + | Missense_Mutation | SNP | G | G | A | TCGA-IB-7651-01A-11D-2154-08 | TCGA-IB-7651-10A-01D-2154-08 | g.chr16:739280G>A | c.547C>T | c.(547-549)Cgc>Tgc | p.R183C |
PRAD | 16 | 734790 | 734790 | + | Missense_Mutation | SNP | G | G | C | TCGA-EJ-7317-01A-31D-2114-08 | TCGA-EJ-7317-10A-01D-2114-08 | g.chr16:734790G>C | c.2707C>G | c.(2707-2709)Ctg>Gtg | p.L903V |
PRAD | 16 | 735360 | 735360 | + | Missense_Mutation | SNP | T | T | C | TCGA-XK-AAIW-01A-11D-A41K-08 | TCGA-XK-AAIW-10A-01D-A41N-08 | g.chr16:735360T>C | c.2306A>G | c.(2305-2307)gAc>gGc | p.D769G |
PRAD | 16 | 736980 | 736980 | + | Missense_Mutation | SNP | G | G | A | TCGA-XK-AAIW-01A-11D-A41K-08 | TCGA-XK-AAIW-10A-01D-A41N-08 | g.chr16:736980G>A | c.1486C>T | c.(1486-1488)Cgc>Tgc | p.R496C |
PRAD | 16 | 737159 | 737159 | + | Missense_Mutation | SNP | C | C | T | TCGA-XK-AAIW-01A-11D-A41K-08 | TCGA-XK-AAIW-10A-01D-A41N-08 | g.chr16:737159C>T | c.1307G>A | c.(1306-1308)cGc>cAc | p.R436H |
SARC | 16 | 736871 | 736871 | + | Missense_Mutation | SNP | G | G | A | TCGA-DX-A8BO-01A-11D-A417-09 | TCGA-DX-A8BO-10B-01D-A41A-09 | g.chr16:736871G>A | c.1595C>T | c.(1594-1596)aCg>aTg | p.T532M |
SARC | 16 | 737641 | 737641 | + | Missense_Mutation | SNP | G | G | A | TCGA-UE-A6QU-01A-12D-A32I-09 | TCGA-UE-A6QU-10B-01D-A32I-09 | g.chr16:737641G>A | c.970C>T | c.(970-972)Cgg>Tgg | p.R324W |
SKCM | 16 | 734758 | 734758 | + | Silent | SNP | G | G | A | TCGA-EE-A3JI-06A-11D-A21A-08 | TCGA-EE-A3JI-10A-01D-A21A-08 | g.chr16:734758G>A | c.2739C>T | c.(2737-2739)tgC>tgT | p.C913C |
SKCM | 16 | 735547 | 735547 | + | Missense_Mutation | SNP | C | C | T | TCGA-D3-A3C1-06A-12D-A196-08 | TCGA-D3-A3C1-10A-01D-A198-08 | g.chr16:735547C>T | c.2119G>A | c.(2119-2121)Gag>Aag | p.E707K |
SKCM | 16 | 735959 | 735959 | + | Missense_Mutation | SNP | C | C | T | TCGA-D3-A51J-06A-11D-A25O-08 | TCGA-D3-A51J-10A-01D-A25O-08 | g.chr16:735959C>T | c.1873G>A | c.(1873-1875)Ggc>Agc | p.G625S |
SKCM | 16 | 736754 | 736754 | + | Missense_Mutation | SNP | C | C | T | TCGA-EE-A29B-06A-11D-A197-08 | TCGA-EE-A29B-10A-01D-A199-08 | g.chr16:736754C>T | c.1712G>A | c.(1711-1713)gGc>gAc | p.G571D |
SKCM | 16 | 736958 | 736958 | + | Missense_Mutation | SNP | C | C | T | TCGA-FS-A4FC-06A-11D-A24R-08 | TCGA-FS-A4FC-10A-01D-A24R-08 | g.chr16:736958C>T | c.1508G>A | c.(1507-1509)cGg>cAg | p.R503Q |
SKCM | 16 | 737047 | 737047 | + | Silent | SNP | G | G | A | TCGA-GN-A4U4-06A-11D-A32N-08 | TCGA-GN-A4U4-10B-01D-A32N-08 | g.chr16:737047G>A | c.1419C>T | c.(1417-1419)ctC>ctT | p.L473L |
SKCM | 16 | 737365 | 737365 | + | Missense_Mutation | SNP | C | C | T | TCGA-EE-A2GO-06A-11D-A196-08 | TCGA-EE-A2GO-10A-01D-A198-08 | g.chr16:737365C>T | c.1101G>A | c.(1099-1101)atG>atA | p.M367I |
SKCM | 16 | 737679 | 737679 | + | Missense_Mutation | SNP | G | G | A | TCGA-ER-A19D-06A-11D-A197-08 | TCGA-ER-A19D-10A-01D-A199-08 | g.chr16:737679G>A | c.932C>T | c.(931-933)tCc>tTc | p.S311F |
SKCM | 16 | 737699 | 737699 | + | Silent | SNP | C | C | T | TCGA-DA-A1I4-06A-11D-A196-08 | TCGA-DA-A1I4-10A-01D-A198-08 | g.chr16:737699C>T | c.912G>A | c.(910-912)cgG>cgA | p.R304R |
SKCM | 16 | 739256 | 739256 | + | Missense_Mutation | SNP | G | G | A | TCGA-EE-A3AC-06A-11D-A196-08 | TCGA-EE-A3AC-10A-01D-A198-08 | g.chr16:739256G>A | c.571C>T | c.(571-573)Cac>Tac | p.H191Y |
SKCM | 16 | 739604 | 739604 | + | Missense_Mutation | SNP | C | C | T | TCGA-DA-A1I0-06A-11D-A20D-08 | TCGA-DA-A1I0-10B-01D-A20D-08 | g.chr16:739604C>T | c.223G>A | c.(223-225)Ggc>Agc | p.G75S |