| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.40472277A>C | CA391768877 | CHST14 | c.1064A>C (p.Tyr355Ser) c.989A>C (p.Tyr330Ser) | |
| 15 | g.40472277A>G | CA391768882 | CHST14 | c.1064A>G (p.Tyr355Cys) c.989A>G (p.Tyr330Cys) | |
| 15 | g.40472277A>T | CA391768879 | CHST14 | c.1064A>T (p.Tyr355Phe) c.989A>T (p.Tyr330Phe) | |
| 15 | g.40472278T>A | CA391768884 | CHST14 | c.1065T>A (p.Tyr355Ter) c.990T>A (p.Tyr330Ter) | |
| 15 | g.40472278T>C | CA268823036 | CHST14 | c.1065T>C (p.Tyr355=) c.990T>C (p.Tyr330=) | dbSNP gnomAD v4 |
| 15 | g.40472278T>G | CA391768885 | CHST14 | c.1065T>G (p.Tyr355Ter) c.990T>G (p.Tyr330Ter) | |
| 15 | g.40472278T= | CA2171795463 | CHST14 | c.1065T= (p.Tyr355=) c.990T= (p.Tyr330=) | |
| 15 | g.40472279A>C | CA391768888 | CHST14 | c.1066A>C (p.Ile356Leu) c.991A>C (p.Ile331Leu) | |
| 15 | g.40472279A>G | CA391768891 | CHST14 | c.1066A>G (p.Ile356Val) c.991A>G (p.Ile331Val) | |
| 15 | g.40472279A>T | CA391768893 | CHST14 | c.1066A>T (p.Ile356Phe) c.991A>T (p.Ile331Phe) | |
| 15 | g.40472280T>A | CA391768896 | CHST14 | c.1067T>A (p.Ile356Asn) c.992T>A (p.Ile331Asn) | |
| 15 | g.40472280T>C | CA7481694 | CHST14 | c.1067T>C (p.Ile356Thr) c.992T>C (p.Ile331Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472280T>G | CA391768900 | CHST14 | c.1067T>G (p.Ile356Ser) c.992T>G (p.Ile331Ser) | |
| 15 | g.40472280T= | CA2171795464 | CHST14 | c.1067T= (p.Ile356=) c.992T= (p.Ile331=) | |
| 15 | g.40472281C>A | CA489975475 | CHST14 | c.1068C>A (p.Ile356=) c.993C>A (p.Ile331=) | |
| 15 | g.40472281C>G | CA391768901 | CHST14 | c.1068C>G (p.Ile356Met) c.993C>G (p.Ile331Met) | |
| 15 | g.40472281C>T | CA489975476 | CHST14 | c.1068C>T (p.Ile356=) c.993C>T (p.Ile331=) | COSMIC |
| 15 | g.40472282C>A | CA391768905 | CHST14 | c.1069C>A (p.Leu357Met) c.994C>A (p.Leu332Met) | gnomAD v4 |
| 15 | g.40472282C>G | CA391768906 | CHST14 | c.1069C>G (p.Leu357Val) c.994C>G (p.Leu332Val) | |
| 15 | g.40472282C>T | CA489975477 | CHST14 | c.1069C>T (p.Leu357=) c.994C>T (p.Leu332=) | |
| 15 | g.40472283T>A | CA391768912 | CHST14 | c.1070T>A (p.Leu357Gln) c.995T>A (p.Leu332Gln) | ClinVar |
| 15 | g.40472283T>C | CA391768908 | CHST14 | c.1070T>C (p.Leu357Pro) c.995T>C (p.Leu332Pro) | |
| 15 | g.40472283T>G | CA7481695 | CHST14 | c.1070T>G (p.Leu357Arg) c.995T>G (p.Leu332Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.40472283T= | CA2171795465 | CHST14 | c.1070T= (p.Leu357=) c.995T= (p.Leu332=) | |
| 15 | g.40472284G>A | CA489975481 | CHST14 | c.1071G>A (p.Leu357=) c.996G>A (p.Leu332=) | |
| 15 | g.40472284G>C | CA489975482 | CHST14 | c.1071G>C (p.Leu357=) c.996G>C (p.Leu332=) | |
| 15 | g.40472284G>T | CA489975483 | CHST14 | c.1071G>T (p.Leu357=) c.996G>T (p.Leu332=) | |
| 15 | g.40472285G>A | CA391768915 | CHST14 | c.1072G>A (p.Asp358Asn) c.997G>A (p.Asp333Asn) | |
| 15 | g.40472285G>C | CA7481696 | CHST14 | c.1072G>C (p.Asp358His) c.997G>C (p.Asp333His) | dbSNP ExAC gnomAD v2 |
| 15 | g.40472285G= | CA2171795466 | CHST14 | c.1072G= (p.Asp358=) c.997G= (p.Asp333=) | |
| 15 | g.40472285G>T | CA391768918 | CHST14 | c.1072G>T (p.Asp358Tyr) c.997G>T (p.Asp333Tyr) | |
| 15 | g.40472286A>C | CA391768920 | CHST14 | c.1073A>C (p.Asp358Ala) c.998A>C (p.Asp333Ala) | |
| 15 | g.40472286A>G | CA391768922 | CHST14 | c.1073A>G (p.Asp358Gly) c.998A>G (p.Asp333Gly) | |
| 15 | g.40472286A>T | CA391768925 | CHST14 | c.1073A>T (p.Asp358Val) c.998A>T (p.Asp333Val) | |
| 15 | g.40472287C>A | CA391768928 | CHST14 | c.1074C>A (p.Asp358Glu) c.999C>A (p.Asp333Glu) | gnomAD v4 |
| 15 | g.40472287C>G | CA391768929 | CHST14 | c.1074C>G (p.Asp358Glu) c.999C>G (p.Asp333Glu) | |
| 15 | g.40472287C>T | CA489975485 | CHST14 | c.1074C>T (p.Asp358=) c.999C>T (p.Asp333=) | gnomAD v4 |
| 15 | g.40472288T>A | CA391768931 | CHST14 | c.1075T>A (p.Phe359Ile) c.1000T>A (p.Phe334Ile) | |
| 15 | g.40472288T>C | CA391768932 | CHST14 | c.1075T>C (p.Phe359Leu) c.1000T>C (p.Phe334Leu) | |
| 15 | g.40472288T>G | CA391768934 | CHST14 | c.1075T>G (p.Phe359Val) c.1000T>G (p.Phe334Val) | |
| 15 | g.40472289T>A | CA391768941 | CHST14 | c.1076T>A (p.Phe359Tyr) c.1001T>A (p.Phe334Tyr) | |
| 15 | g.40472289T>C | CA391768939 | CHST14 | c.1076T>C (p.Phe359Ser) c.1001T>C (p.Phe334Ser) | COSMIC |
| 15 | g.40472289T>G | CA391768937 | CHST14 | c.1076T>G (p.Phe359Cys) c.1001T>G (p.Phe334Cys) | |
| 15 | g.40472290C>A | CA391768945 | CHST14 | c.1077C>A (p.Phe359Leu) c.1002C>A (p.Phe334Leu) | |
| 15 | g.40472290C>G | CA391768943 | CHST14 | c.1077C>G (p.Phe359Leu) c.1002C>G (p.Phe334Leu) | |
| 15 | g.40472290C>T | CA489975487 | CHST14 | c.1077C>T (p.Phe359=) c.1002C>T (p.Phe334=) | |
| 15 | g.40472291T>A | CA391768948 | CHST14 | c.1078T>A (p.Ser360Thr) c.1003T>A (p.Ser335Thr) | |
| 15 | g.40472291T>C | CA391768950 | CHST14 | c.1078T>C (p.Ser360Pro) c.1003T>C (p.Ser335Pro) | |
| 15 | g.40472291T>G | CA391768952 | CHST14 | c.1078T>G (p.Ser360Ala) c.1003T>G (p.Ser335Ala) | |
| 15 | g.40472292C>A | CA391768953 | CHST14 | c.1079C>A (p.Ser360Tyr) c.1004C>A (p.Ser335Tyr) | |
| 15 | g.40472292C= | CA2171795467 | CHST14 | c.1079C= (p.Ser360=) c.1004C= (p.Ser335=) | |
| 15 | g.40472292C>G | CA391768955 | CHST14 | c.1079C>G (p.Ser360Cys) c.1004C>G (p.Ser335Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472292C>T | CA391768956 | CHST14 | c.1079C>T (p.Ser360Phe) c.1004C>T (p.Ser335Phe) | dbSNP |
| 15 | g.40472293C>A | CA489975490 | CHST14 | c.1080C>A (p.Ser360=) c.1005C>A (p.Ser335=) | |
| 15 | g.40472293C= | CA2171795468 | CHST14 | c.1080C= (p.Ser360=) c.1005C= (p.Ser335=) | |
| 15 | g.40472293C>G | CA489975491 | CHST14 | c.1080C>G (p.Ser360=) c.1005C>G (p.Ser335=) | |
| 15 | g.40472293C>T | CA489975489 | CHST14 | c.1080C>T (p.Ser360=) c.1005C>T (p.Ser335=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40472294C>A | CA391768958 | CHST14 | c.1081C>A (p.Leu361Ile) c.1006C>A (p.Leu336Ile) | |
| 15 | g.40472294C= | CA2171795469 | CHST14 | c.1081C= (p.Leu361=) c.1006C= (p.Leu336=) | |
| 15 | g.40472294C>G | CA391768960 | CHST14 | c.1081C>G (p.Leu361Val) c.1006C>G (p.Leu336Val) | ClinVar dbSNP gnomAD v4 |
| 15 | g.40472294C>T | CA391768959 | CHST14 | c.1081C>T (p.Leu361Phe) c.1006C>T (p.Leu336Phe) | |
| 15 | g.40472295T>A | CA391768963 | CHST14 | c.1082T>A (p.Leu361His) c.1007T>A (p.Leu336His) | |
| 15 | g.40472295T>C | CA391768964 | CHST14 | c.1082T>C (p.Leu361Pro) c.1007T>C (p.Leu336Pro) | |
| 15 | g.40472295T>G | CA391768965 | CHST14 | c.1082T>G (p.Leu361Arg) c.1007T>G (p.Leu336Arg) | gnomAD v4 |
| 15 | g.40472296C>A | CA489975492 | CHST14 | c.1083C>A (p.Leu361=) c.1008C>A (p.Leu336=) | gnomAD v4 |
| 15 | g.40472296C= | CA2171795470 | CHST14 | c.1083C= (p.Leu361=) c.1008C= (p.Leu336=) | |
| 15 | g.40472296C>G | CA489975493 | CHST14 | c.1083C>G (p.Leu361=) c.1008C>G (p.Leu336=) | gnomAD v4 |
| 15 | g.40472296C>T | CA7481697 | CHST14 | c.1083C>T (p.Leu361=) c.1008C>T (p.Leu336=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.40472297T>A | CA391768966 | CHST14 | c.1084T>A (p.Phe362Ile) c.1009T>A (p.Phe337Ile) | |
| 15 | g.40472297T>C | CA391768969 | CHST14 | c.1084T>C (p.Phe362Leu) c.1009T>C (p.Phe337Leu) | |
| 15 | g.40472297T>G | CA391768968 | CHST14 | c.1084T>G (p.Phe362Val) c.1009T>G (p.Phe337Val) | |
| 15 | g.40472299del | CA2627824993 | CHST14 | c.1086del (p.Phe362LeufsTer?) c.1011del (p.Phe337LeufsTer?) | gnomAD v4 |
| 15 | g.40472298T>A | CA391768971 | CHST14 | c.1085T>A (p.Phe362Tyr) c.1010T>A (p.Phe337Tyr) | |
| 15 | g.40472298T>C | CA391768972 | CHST14 | c.1085T>C (p.Phe362Ser) c.1010T>C (p.Phe337Ser) | |
| 15 | g.40472298T>G | CA391768974 | CHST14 | c.1085T>G (p.Phe362Cys) c.1010T>G (p.Phe337Cys) | |
| 15 | g.40472299T>A | CA391768976 | CHST14 | c.1086T>A (p.Phe362Leu) c.1011T>A (p.Phe337Leu) | |
| 15 | g.40472299T>C | CA489975495 | CHST14 | c.1086T>C (p.Phe362=) c.1011T>C (p.Phe337=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.40472299T>G | CA391768977 | CHST14 | c.1086T>G (p.Phe362Leu) c.1011T>G (p.Phe337Leu) | |
| 15 | g.40472300G>A | CA391768979 | CHST14 | c.1087G>A (p.Ala363Thr) c.1012G>A (p.Ala338Thr) | dbSNP gnomAD v2 |
| 15 | g.40472300G>C | CA391768981 | CHST14 | c.1087G>C (p.Ala363Pro) c.1012G>C (p.Ala338Pro) | |
| 15 | g.40472300G= | CA2171795471 | CHST14 | c.1087G= (p.Ala363=) c.1012G= (p.Ala338=) | |
| 15 | g.40472300G>T | CA391768982 | CHST14 | c.1087G>T (p.Ala363Ser) c.1012G>T (p.Ala338Ser) | |
| 15 | g.40472301C>A | CA391768984 | CHST14 | c.1088C>A (p.Ala363Asp) c.1013C>A (p.Ala338Asp) | gnomAD v4 |
| 15 | g.40472301C>G | CA391768985 | CHST14 | c.1088C>G (p.Ala363Gly) c.1013C>G (p.Ala338Gly) | |
| 15 | g.40472301C>T | CA391768986 | CHST14 | c.1088C>T (p.Ala363Val) c.1013C>T (p.Ala338Val) | gnomAD v4 |
| 15 | g.40472302C>A | CA489975496 | CHST14 | c.1089C>A (p.Ala363=) c.1014C>A (p.Ala338=) | gnomAD v4 |
| 15 | g.40472302C>G | CA489975497 | CHST14 | c.1089C>G (p.Ala363=) c.1014C>G (p.Ala338=) | |
| 15 | g.40472302C>T | CA489975498 | CHST14 | c.1089C>T (p.Ala363=) c.1014C>T (p.Ala338=) | |
| 15 | g.40472303T>A | CA391768989 | CHST14 | c.1090T>A (p.Tyr364Asn) c.1015T>A (p.Tyr339Asn) | |
| 15 | g.40472303T>C | CA391768991 | CHST14 | c.1090T>C (p.Tyr364His) c.1015T>C (p.Tyr339His) | |
| 15 | g.40472303T>G | CA391768987 | CHST14 | c.1090T>G (p.Tyr364Asp) c.1015T>G (p.Tyr339Asp) | |
| 15 | g.40472304A>C | CA391768993 | CHST14 | c.1091A>C (p.Tyr364Ser) c.1016A>C (p.Tyr339Ser) | |
| 15 | g.40472304A>G | CA391768997 | CHST14 | c.1091A>G (p.Tyr364Cys) c.1016A>G (p.Tyr339Cys) | |
| 15 | g.40472304A>T | CA391768995 | CHST14 | c.1091A>T (p.Tyr364Phe) c.1016A>T (p.Tyr339Phe) | |
| 15 | g.40472305C>A | CA391769000 | CHST14 | c.1092C>A (p.Tyr364Ter) c.1017C>A (p.Tyr339Ter) | gnomAD v4 |
| 15 | g.40472305C>G | CA391769002 | CHST14 | c.1092C>G (p.Tyr364Ter) c.1017C>G (p.Tyr339Ter) | |
| 15 | g.40472305C>T | CA489975500 | CHST14 | c.1092C>T (p.Tyr364=) c.1017C>T (p.Tyr339=) | |
| 15 | g.40472307del | CA2627824994 | CHST14 | c.1094del (p.Pro365HisfsTer?) c.1019del (p.Pro340HisfsTer?) | gnomAD v4 |
| 15 | g.40472306C>A | CA391769004 | CHST14 | c.1093C>A (p.Pro365Thr) c.1018C>A (p.Pro340Thr) | gnomAD v4 |
| 15 | g.40472306C= | CA2171795472 | CHST14 | c.1093C= (p.Pro365=) c.1018C= (p.Pro340=) | |
| 15 | g.40472306C>G | CA391769006 | CHST14 | c.1093C>G (p.Pro365Ala) c.1018C>G (p.Pro340Ala) | |
| 15 | g.40472306C>T | CA391769009 | CHST14 | c.1093C>T (p.Pro365Ser) c.1018C>T (p.Pro340Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40472307C>A | CA391769011 | CHST14 | c.1094C>A (p.Pro365Gln) c.1019C>A (p.Pro340Gln) | dbSNP gnomAD v4 |
| 15 | g.40472307C= | CA2171795473 | CHST14 | c.1094C= (p.Pro365=) c.1019C= (p.Pro340=) | |
| 15 | g.40472307C>G | CA391769014 | CHST14 | c.1094C>G (p.Pro365Arg) c.1019C>G (p.Pro340Arg) | |
| 15 | g.40472307C>T | CA391769017 | CHST14 | c.1094C>T (p.Pro365Leu) c.1019C>T (p.Pro340Leu) | dbSNP gnomAD v2 |
| 15 | g.40472308A>C | CA489975501 | CHST14 | c.1095A>C (p.Pro365=) c.1020A>C (p.Pro340=) | |
| 15 | g.40472308A>G | CA489975503 | CHST14 | c.1095A>G (p.Pro365=) c.1020A>G (p.Pro340=) | |
| 15 | g.40472308A>T | CA489975502 | CHST14 | c.1095A>T (p.Pro365=) c.1020A>T (p.Pro340=) | |
| 15 | g.40472309C>A | CA391769019 | CHST14 | c.1096C>A (p.Leu366Met) c.1021C>A (p.Leu341Met) | |
| 15 | g.40472309C>G | CA391769021 | CHST14 | c.1096C>G (p.Leu366Val) c.1021C>G (p.Leu341Val) | |
| 15 | g.40472309C>T | CA489975504 | CHST14 | c.1096C>T (p.Leu366=) c.1021C>T (p.Leu341=) | gnomAD v4 |
| 15 | g.40472310T>A | CA391769028 | CHST14 | c.1097T>A (p.Leu366Gln) c.1022T>A (p.Leu341Gln) | |
| 15 | g.40472310T>C | CA268823048 | CHST14 | c.1097T>C (p.Leu366Pro) c.1022T>C (p.Leu341Pro) | dbSNP |
| 15 | g.40472310T>G | CA391769024 | CHST14 | c.1097T>G (p.Leu366Arg) c.1022T>G (p.Leu341Arg) | |
| 15 | g.40472310T= | CA2171795474 | CHST14 | c.1097T= (p.Leu366=) c.1022T= (p.Leu341=) | |
| 15 | g.40472311G>A | CA489975506 | CHST14 | c.1098G>A (p.Leu366=) c.1023G>A (p.Leu341=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40472311G>C | CA489975507 | CHST14 | c.1098G>C (p.Leu366=) c.1023G>C (p.Leu341=) | |
| 15 | g.40472311G= | CA2171795475 | CHST14 | c.1098G= (p.Leu366=) c.1023G= (p.Leu341=) | |
| 15 | g.40472311G>T | CA489975508 | CHST14 | c.1098G>T (p.Leu366=) c.1023G>T (p.Leu341=) | gnomAD v4 |
| 15 | g.40472312C>A | CA391769030 | CHST14 | c.1099C>A (p.Pro367Thr) c.1024C>A (p.Pro342Thr) | gnomAD v4 |
| 15 | g.40472312C>G | CA391769031 | CHST14 | c.1099C>G (p.Pro367Ala) c.1024C>G (p.Pro342Ala) | |
| 15 | g.40472312C>T | CA391769032 | CHST14 | c.1099C>T (p.Pro367Ser) c.1024C>T (p.Pro342Ser) | |
| 15 | g.40472313C>A | CA391769033 | CHST14 | c.1100C>A (p.Pro367His) c.1025C>A (p.Pro342His) | |
| 15 | g.40472313C>G | CA391769034 | CHST14 | c.1100C>G (p.Pro367Arg) c.1025C>G (p.Pro342Arg) | |
| 15 | g.40472313C>T | CA391769036 | CHST14 | c.1100C>T (p.Pro367Leu) c.1025C>T (p.Pro342Leu) | |
| 15 | g.40472314T>A | CA489975509 | CHST14 | c.1101T>A (p.Pro367=) c.1026T>A (p.Pro342=) | |
| 15 | g.40472314T>C | CA489975510 | CHST14 | c.1101T>C (p.Pro367=) c.1026T>C (p.Pro342=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40472314T>G | CA489975511 | CHST14 | c.1101T>G (p.Pro367=) c.1026T>G (p.Pro342=) | |
| 15 | g.40472314T= | CA2171795476 | CHST14 | c.1101T= (p.Pro367=) c.1026T= (p.Pro342=) | |
| 15 | g.40472315A= | CA2171795477 | CHST14 | c.1102A= (p.Asn368=) c.1027A= (p.Asn343=) | |
| 15 | g.40472315A>C | CA391769037 | CHST14 | c.1102A>C (p.Asn368His) c.1027A>C (p.Asn343His) | |
| 15 | g.40472315A>G | CA7481698 | CHST14 | c.1102A>G (p.Asn368Asp) c.1027A>G (p.Asn343Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472315A>T | CA391769041 | CHST14 | c.1102A>T (p.Asn368Tyr) c.1027A>T (p.Asn343Tyr) | |
| 15 | g.40472316A>C | CA391769043 | CHST14 | c.1103A>C (p.Asn368Thr) c.1028A>C (p.Asn343Thr) | |
| 15 | g.40472316A>G | CA391769045 | CHST14 | c.1103A>G (p.Asn368Ser) c.1028A>G (p.Asn343Ser) | |
| 15 | g.40472316A>T | CA391769047 | CHST14 | c.1103A>T (p.Asn368Ile) c.1028A>T (p.Asn343Ile) | |
| 15 | g.40472317T>A | CA391769053 | CHST14 | c.1104T>A (p.Asn368Lys) c.1029T>A (p.Asn343Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40472317T>C | CA489975512 | CHST14 | c.1104T>C (p.Asn368=) c.1029T>C (p.Asn343=) | ClinVar dbSNP |
| 15 | g.40472317T>G | CA391769050 | CHST14 | c.1104T>G (p.Asn368Lys) c.1029T>G (p.Asn343Lys) | dbSNP |
| 15 | g.40472317T= | CA2171795478 | CHST14 | c.1104T= (p.Asn368=) c.1029T= (p.Asn343=) | |
| 15 | g.40472318G>A | CA391769056 | CHST14 | c.1105G>A (p.Val369Ile) c.1030G>A (p.Val344Ile) | gnomAD v4 |
| 15 | g.40472318G>C | CA391769059 | CHST14 | c.1105G>C (p.Val369Leu) c.1030G>C (p.Val344Leu) | |
| 15 | g.40472318G>T | CA391769061 | CHST14 | c.1105G>T (p.Val369Phe) c.1030G>T (p.Val344Phe) | |
| 15 | g.40472319T>A | CA391769065 | CHST14 | c.1106T>A (p.Val369Asp) c.1031T>A (p.Val344Asp) | |
| 15 | g.40472319T>C | CA391769066 | CHST14 | c.1106T>C (p.Val369Ala) c.1031T>C (p.Val344Ala) | |
| 15 | g.40472319T>G | CA391769067 | CHST14 | c.1106T>G (p.Val369Gly) c.1031T>G (p.Val344Gly) | |
| 15 | g.40472320C>A | CA489975513 | CHST14 | c.1107C>A (p.Val369=) c.1032C>A (p.Val344=) | gnomAD v4 |
| 15 | g.40472320C>G | CA489975514 | CHST14 | c.1107C>G (p.Val369=) c.1032C>G (p.Val344=) | |
| 15 | g.40472320C>T | CA489975515 | CHST14 | c.1107C>T (p.Val369=) c.1032C>T (p.Val344=) | |
| 15 | g.40472321A>C | CA391769071 | CHST14 | c.1108A>C (p.Thr370Pro) c.1033A>C (p.Thr345Pro) | |
| 15 | g.40472321A>G | CA391769074 | CHST14 | c.1108A>G (p.Thr370Ala) c.1033A>G (p.Thr345Ala) | |
| 15 | g.40472321A>T | CA391769076 | CHST14 | c.1108A>T (p.Thr370Ser) c.1033A>T (p.Thr345Ser) | |
| 15 | g.40472321_40472322delinsAC | CA2171795479 | CHST14 | c.1108_1109delinsAC (p.Thr370=) c.1033_1034delinsAC (p.Thr345=) | |
| 15 | g.40472322C>A | CA391769078 | CHST14 | c.1109C>A (p.Thr370Asn) c.1034C>A (p.Thr345Asn) | gnomAD v4 |
| 15 | g.40472322C= | CA2171795480 | CHST14 | c.1109C= (p.Thr370=) c.1034C= (p.Thr345=) | |
| 15 | g.40472322C>G | CA391769080 | CHST14 | c.1109C>G (p.Thr370Ser) c.1034C>G (p.Thr345Ser) | ClinVar gnomAD v4 |
| 15 | g.40472322C>T | CA391769081 | CHST14 | c.1109C>T (p.Thr370Ile) c.1034C>T (p.Thr345Ile) | dbSNP gnomAD v2 |
| 15 | g.40472323del | CA617557508 | CHST14 | c.1110del (p.Lys371ArgfsTer?) c.1035del (p.Lys346ArgfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472323C>A | CA489975516 | CHST14 | c.1110C>A (p.Thr370=) c.1035C>A (p.Thr345=) | |
| 15 | g.40472323C>G | CA489975517 | CHST14 | c.1110C>G (p.Thr370=) c.1035C>G (p.Thr345=) | |
| 15 | g.40472323C>T | CA489975518 | CHST14 | c.1110C>T (p.Thr370=) c.1035C>T (p.Thr345=) | |
| 15 | g.40472324A>C | CA391769087 | CHST14 | c.1111A>C (p.Lys371Gln) c.1036A>C (p.Lys346Gln) | |
| 15 | g.40472324A>G | CA391769085 | CHST14 | c.1111A>G (p.Lys371Glu) c.1036A>G (p.Lys346Glu) | gnomAD v4 |
| 15 | g.40472324A>T | CA391769083 | CHST14 | c.1111A>T (p.Lys371Ter) c.1036A>T (p.Lys346Ter) | |
| 15 | g.40472325A>C | CA391769090 | CHST14 | c.1112A>C (p.Lys371Thr) c.1037A>C (p.Lys346Thr) | |
| 15 | g.40472325A>G | CA391769093 | CHST14 | c.1112A>G (p.Lys371Arg) c.1037A>G (p.Lys346Arg) | COSMIC |
| 15 | g.40472325A>T | CA391769096 | CHST14 | c.1112A>T (p.Lys371Met) c.1037A>T (p.Lys346Met) | |
| 15 | g.40472326G>A | CA489975519 | CHST14 | c.1113G>A (p.Lys371=) c.1038G>A (p.Lys346=) | dbSNP |
| 15 | g.40472326G>C | CA391769099 | CHST14 | c.1113G>C (p.Lys371Asn) c.1038G>C (p.Lys346Asn) | |
| 15 | g.40472326G= | CA2171795481 | CHST14 | c.1113G= (p.Lys371=) c.1038G= (p.Lys346=) | |
| 15 | g.40472326G>T | CA391769102 | CHST14 | c.1113G>T (p.Lys371Asn) c.1038G>T (p.Lys346Asn) | |
| 15 | g.40472327G>A | CA391769105 | CHST14 | c.1114G>A (p.Glu372Lys) c.1039G>A (p.Glu347Lys) | |
| 15 | g.40472327G>C | CA391769106 | CHST14 | c.1114G>C (p.Glu372Gln) c.1039G>C (p.Glu347Gln) | |
| 15 | g.40472327G>T | CA391769110 | CHST14 | c.1114G>T (p.Glu372Ter) c.1039G>T (p.Glu347Ter) | |
| 15 | g.40472328A= | CA2171795482 | CHST14 | c.1115A= (p.Glu372=) c.1040A= (p.Glu347=) | |
| 15 | g.40472328A>C | CA391769115 | CHST14 | c.1115A>C (p.Glu372Ala) c.1040A>C (p.Glu347Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40472328A>G | CA391769117 | CHST14 | c.1115A>G (p.Glu372Gly) c.1040A>G (p.Glu347Gly) | |
| 15 | g.40472328A>T | CA391769118 | CHST14 | c.1115A>T (p.Glu372Val) c.1040A>T (p.Glu347Val) | |
| 15 | g.40472329G>A | CA489764136 | CHST14 | c.1116G>A (p.Glu372=) c.1041G>A (p.Glu347=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472329G>C | CA391769121 | CHST14 | c.1116G>C (p.Glu372Asp) c.1041G>C (p.Glu347Asp) | |
| 15 | g.40472329G= | CA2171795483 | CHST14 | c.1116G= (p.Glu372=) c.1041G= (p.Glu347=) | |
| 15 | g.40472329G>T | CA391769122 | CHST14 | c.1116G>T (p.Glu372Asp) c.1041G>T (p.Glu347Asp) | |
| 15 | g.40472330G>A | CA391769128 | CHST14 | c.1117G>A (p.Ala373Thr) c.1042G>A (p.Ala348Thr) | gnomAD v4 |
| 15 | g.40472330G>C | CA391769130 | CHST14 | c.1117G>C (p.Ala373Pro) c.1042G>C (p.Ala348Pro) | |
| 15 | g.40472330G= | CA2171795484 | CHST14 | c.1117G= (p.Ala373=) c.1042G= (p.Ala348=) | |
| 15 | g.40472330G>T | CA7481699 | CHST14 | c.1117G>T (p.Ala373Ser) c.1042G>T (p.Ala348Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.40472331C>A | CA391769135 | CHST14 | c.1118C>A (p.Ala373Glu) c.1043C>A (p.Ala348Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40472331C= | CA2171795486 | CHST14 | c.1118C= (p.Ala373=) c.1043C= (p.Ala348=) | |
| 15 | g.40472331C>G | CA391769132 | CHST14 | c.1118C>G (p.Ala373Gly) c.1043C>G (p.Ala348Gly) | |
| 15 | g.40472331C>T | CA7481700 | CHST14 | c.1118C>T (p.Ala373Val) c.1043C>T (p.Ala348Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472331_40472355delinsCGTGTCAGCAGTGACCATGGGTGTG | CA2171795485 | CHST14 | c.1118_*11delinsCGTGTCAGCAGTGACCATGGGTGTG (n.[c.1118_*11delinsCGTGTCAGCAGTGACCATGGGTGTG;Ala373=]) c.1043_*11delinsCGTGTCAGCAGTGACCATGGGTGTG (n.[c.1043_*11delinsCGTGTCAGCAGTGACCATGGGTGTG;Ala348=]) | |
| 15 | g.40472332G>A | CA7481701 | CHST14 | c.1119G>A (p.Ala373=) c.1044G>A (p.Ala348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472332G>C | CA7481702 | CHST14 | c.1119G>C (p.Ala373=) c.1044G>C (p.Ala348=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.40472332G= | CA2171795487 | CHST14 | c.1119G= (p.Ala373=) c.1044G= (p.Ala348=) | |
| 15 | g.40472332G>T | CA489764142 | CHST14 | c.1119G>T (p.Ala373=) c.1044G>T (p.Ala348=) | |
| 15 | g.40472333_40472356del | CA712723973 | CHST14 | c.1120_*12del (n.[c.1120_*12del;Cys374GlyfsTer?]) c.1045_*12del (n.[c.1045_*12del;Cys349GlyfsTer?]) | ClinVar dbSNP gnomAD v4 |
| 15 | g.40472333T>A | CA391769143 | CHST14 | c.1120T>A (p.Cys374Ser) c.1045T>A (p.Cys349Ser) | |
| 15 | g.40472333T>C | CA391769144 | CHST14 | c.1120T>C (p.Cys374Arg) c.1045T>C (p.Cys349Arg) | |
| 15 | g.40472333T>G | CA391769146 | CHST14 | c.1120T>G (p.Cys374Gly) c.1045T>G (p.Cys349Gly) | |
| 15 | g.40472334G>A | CA391769149 | CHST14 | c.1121G>A (p.Cys374Tyr) c.1046G>A (p.Cys349Tyr) | dbSNP gnomAD v2 |
| 15 | g.40472334G>C | CA391769151 | CHST14 | c.1121G>C (p.Cys374Ser) c.1046G>C (p.Cys349Ser) | |
| 15 | g.40472334G= | CA2171795488 | CHST14 | c.1121G= (p.Cys374=) c.1046G= (p.Cys349=) | |
| 15 | g.40472334G>T | CA391769154 | CHST14 | c.1121G>T (p.Cys374Phe) c.1046G>T (p.Cys349Phe) | |
| 15 | g.40472335T>A | CA391769157 | CHST14 | c.1122T>A (p.Cys374Ter) c.1047T>A (p.Cys349Ter) | |
| 15 | g.40472335T>C | CA489764146 | CHST14 | c.1122T>C (p.Cys374=) c.1047T>C (p.Cys349=) | |
| 15 | g.40472335T>G | CA391769160 | CHST14 | c.1122T>G (p.Cys374Trp) c.1047T>G (p.Cys349Trp) | |
| 15 | g.40472336C>A | CA391769162 | CHST14 | c.1123C>A (p.Gln375Lys) c.1048C>A (p.Gln350Lys) | gnomAD v4 |
| 15 | g.40472336C= | CA2171795489 | CHST14 | c.1123C= (p.Gln375=) c.1048C= (p.Gln350=) | |
| 15 | g.40472336C>G | CA391769165 | CHST14 | c.1123C>G (p.Gln375Glu) c.1048C>G (p.Gln350Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40472336C>T | CA391769168 | CHST14 | c.1123C>T (p.Gln375Ter) c.1048C>T (p.Gln350Ter) | |
| 15 | g.40472337A>C | CA391769175 | CHST14 | c.1124A>C (p.Gln375Pro) c.1049A>C (p.Gln350Pro) | |
| 15 | g.40472337A>G | CA391769171 | CHST14 | c.1124A>G (p.Gln375Arg) c.1049A>G (p.Gln350Arg) | gnomAD v4 |
| 15 | g.40472337A>T | CA391769173 | CHST14 | c.1124A>T (p.Gln375Leu) c.1049A>T (p.Gln350Leu) | |
| 15 | g.40472338G>A | CA489764148 | CHST14 | c.1125G>A (p.Gln375=) c.1050G>A (p.Gln350=) | gnomAD v4 |
| 15 | g.40472338G>C | CA391769179 | CHST14 | c.1125G>C (p.Gln375His) c.1050G>C (p.Gln350His) | |
| 15 | g.40472338G>T | CA391769181 | CHST14 | c.1125G>T (p.Gln375His) c.1050G>T (p.Gln350His) | gnomAD v4 |
| 15 | g.40472339C>A | CA391769183 | CHST14 | c.1126C>A (p.Gln376Lys) c.1051C>A (p.Gln351Lys) | |
| 15 | g.40472339C>G | CA391769184 | CHST14 | c.1126C>G (p.Gln376Glu) c.1051C>G (p.Gln351Glu) | |
| 15 | g.40472339C>T | CA391769186 | CHST14 | c.1126C>T (p.Gln376Ter) c.1051C>T (p.Gln351Ter) | gnomAD v4 |
| 15 | g.40472340A>C | CA391769189 | CHST14 | c.1127A>C (p.Gln376Pro) c.1052A>C (p.Gln351Pro) | |
| 15 | g.40472340A>G | CA391769191 | CHST14 | c.1127A>G (p.Gln376Arg) c.1052A>G (p.Gln351Arg) | |
| 15 | g.40472340A>T | CA391769192 | CHST14 | c.1127A>T (p.Gln376Leu) c.1052A>T (p.Gln351Leu) | gnomAD v4 |
| 15 | g.40472341G>A | CA7481703 | CHST14 | c.1128G>A (p.Gln376=) c.1053G>A (p.Gln351=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.40472341G>C | CA268823091 | CHST14 | c.1128G>C (p.Gln376His) c.1053G>C (p.Gln351His) | dbSNP |
| 15 | g.40472341G= | CA2171795490 | CHST14 | c.1128G= (p.Gln376=) c.1053G= (p.Gln351=) | |
| 15 | g.40472341G>T | CA391769199 | CHST14 | c.1128G>T (p.Gln376His) c.1053G>T (p.Gln351His) | |
| 15 | g.40472342T>A | CA391769213 | CHST14 | c.1129T>A (p.Ter377Arg) c.1054T>A (p.Ter352Arg) | |
| 15 | g.40472342T>C | CA391769210 | CHST14 | c.1129T>C (p.Ter377Arg) c.1054T>C (p.Ter352Arg) | gnomAD v4 |
| 15 | g.40472342T>G | CA391769208 | CHST14 | c.1129T>G (p.Ter377Gly) c.1054T>G (p.Ter352Gly) | |
| 15 | g.40472343G>A | CA489764151 | CHST14 | c.1130G>A (p.Ter377=) c.1055G>A (p.Ter352=) | |
| 15 | g.40472343G>C | CA391769215 | CHST14 | c.1130G>C (p.Ter377Ser) c.1055G>C (p.Ter352Ser) | |
| 15 | g.40472343G>T | CA391769219 | CHST14 | c.1130G>T (p.Ter377Leu) c.1055G>T (p.Ter352Leu) | |
| 15 | g.40472344A>C | CA391769221 | CHST14 | c.1131A>C (p.Ter377Cys) c.1056A>C (p.Ter352Cys) | |
| 15 | g.40472344A>G | CA391769224 | CHST14 | c.1131A>G (p.Ter377Trp) c.1056A>G (p.Ter352Trp) | |
| 15 | g.40472344A>T | CA391769226 | CHST14 | c.1131A>T (p.Ter377Cys) c.1056A>T (p.Ter352Cys) | |
| 15 | g.40472345C>A | CA2627824996 | CHST14 | c.*1C>A (n.*1C>A) | gnomAD v4 |
| 15 | g.40472345C>T | CA2627824997 | CHST14 | c.*1C>T (n.*1C>T) | gnomAD v4 |
| 15 | g.40472346del | CA2627824995 | CHST14 | c.*2del (n.*2del) | gnomAD v4 |
| 15 | g.40472346C>T | CA2741422373 | CHST14 | c.*2C>T (n.*2C>T) | |
| 15 | g.40472347A= | CA2171795491 | CHST14 | c.*3A= (n.*3A=) | |
| 15 | g.40472347A>G | CA712723992 | CHST14 | c.*3A>G (n.*3A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40472347A>T | CA2627824998 | CHST14 | c.*3A>T (n.*3A>T) | gnomAD v4 |
| 15 | g.40472348T>C | CA2627824999 | CHST14 | c.*4T>C (n.*4T>C) | gnomAD v4 |
| 15 | g.40472348T>G | CA2627825000 | CHST14 | c.*4T>G (n.*4T>G) | gnomAD v4 |
| 15 | g.40472350G>A | CA214778 | CHST14 | c.*6G>A (n.*6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472350G>C | CA2581210355 | CHST14 | c.*6G>C (n.*6G>C) | |
| 15 | g.40472350G= | CA2171795492 | CHST14 | c.*6G= (n.*6G=) | |
| 15 | g.40472350G>T | CA2581210354 | CHST14 | c.*6G>T (n.*6G>T) | gnomAD v4 |
| 15 | g.40472351G>A | CA7481704 | CHST14 | c.*7G>A (n.*7G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.40472351G= | CA2171795493 | CHST14 | c.*7G= (n.*7G=) | |
| 15 | g.40472352T>C | CA2627825001 | CHST14 | c.*8T>C (n.*8T>C) | gnomAD v4 |
| 15 | g.40472352T= | CA2171795494 | CHST14 | c.*8T= (n.*8T=) | |
| 15 | g.40472352_40472353insCA | CA7481705 | CHST14 | c.*8_*9insCA (n.*8_*9insCA) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472353G>A | CA2627825002 | CHST14 | c.*9G>A (n.*9G>A) | gnomAD v4 |
| 15 | g.40472353G>T | CA2627825003 | CHST14 | c.*9G>T (n.*9G>T) | gnomAD v4 |
| 15 | g.40472354T>C | CA2627825004 | CHST14 | c.*10T>C (n.*10T>C) | gnomAD v4 |
| 15 | g.40472355G>A | CA617242869 | CHST14 | c.*11G>A (n.*11G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472355G= | CA2171795495 | CHST14 | c.*11G= (n.*11G=) | |
| 15 | g.40472358del | CA2627825005 | CHST14 | c.*14del (n.*14del) | gnomAD v4 |
| 15 | g.40472356G>A | CA2627825006 | CHST14 | c.*12G>A (n.*12G>A) | gnomAD v4 |
| 15 | g.40472356G>T | CA2627825007 | CHST14 | c.*12G>T (n.*12G>T) | gnomAD v4 |
| 15 | g.40472357G>A | CA617242870 | CHST14 | c.*13G>A (n.*13G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40472357G= | CA2171795496 | CHST14 | c.*13G= (n.*13G=) | |
| 15 | g.40472358G>A | CA2627825008 | CHST14 | c.*14G>A (n.*14G>A) | gnomAD v4 |
| 15 | g.40472358G>T | CA2627825009 | CHST14 | c.*14G>T (n.*14G>T) | gnomAD v4 |
| 15 | g.40472359C>A | CA2627825010 | CHST14 | c.*15C>A (n.*15C>A) | gnomAD v4 |
| 15 | g.40472359C= | CA2171795497 | CHST14 | c.*15C= (n.*15C=) | |
| 15 | g.40472359C>T | CA2171795498 | CHST14 | c.*15C>T (n.*15C>T) | dbSNP |
| 15 | g.40472360C>G | CA2627825011 | CHST14 | c.*16C>G (n.*16C>G) | gnomAD v4 |
| 15 | g.40472361A>G | CA2627825012 | CHST14 | c.*17A>G (n.*17A>G) | gnomAD v4 |
| 15 | g.40472361A>T | CA2575679825 | CHST14 | c.*17A>T (n.*17A>T) | gnomAD v4 |
| 15 | g.40472362G>A | CA2627825013 | CHST14 | c.*18G>A (n.*18G>A) | gnomAD v4 |
| 15 | g.40472363C>A | CA2627825014 | CHST14 | c.*19C>A (n.*19C>A) | gnomAD v4 |
| 15 | g.40472363C>T | CA2627825015 | CHST14 | c.*19C>T (n.*19C>T) | gnomAD v4 |
| 15 | g.40472365G>A | CA2627825016 | CHST14 | c.*21G>A (n.*21G>A) | gnomAD v4 |
| 15 | g.40472365G>T | CA2627825017 | CHST14 | c.*21G>T (n.*21G>T) | gnomAD v4 |
| 15 | g.40472366C= | CA2171795499 | CHST14 | c.*22C= (n.*22C=) | |
| 15 | g.40472366C>G | CA2575679826 | CHST14 | c.*22C>G (n.*22C>G) | |
| 15 | g.40472366C>T | CA617242871 | CHST14 | c.*22C>T (n.*22C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472367T>C | CA2627825018 | CHST14 | c.*23T>C (n.*23T>C) | gnomAD v4 |
| 15 | g.40472368G>A | CA2627825019 | CHST14 | c.*24G>A (n.*24G>A) | gnomAD v4 |
| 15 | g.40472368G>T | CA2627825020 | CHST14 | c.*24G>T (n.*24G>T) | gnomAD v4 |
| 15 | g.40472369G>T | CA2627825021 | CHST14 | c.*25G>T (n.*25G>T) | gnomAD v4 |
| 15 | g.40472370T>C | CA2627825022 | CHST14 | c.*26T>C (n.*26T>C) | gnomAD v4 |
| 15 | g.40472370_40472371delinsTG | CA2171795500 | CHST14 | c.*26_*27delinsTG (n.*26_*27delinsTG) | |
| 15 | g.40472374dup | CA7481706 | CHST14 | c.*30dup (n.*30dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472374del | CA617242872 | CHST14 | c.*30del (n.*30del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472372G>C | CA2627825023 | CHST14 | c.*28G>C (n.*28G>C) | gnomAD v4 |
| 15 | g.40472373G>A | CA2627825024 | CHST14 | c.*29G>A (n.*29G>A) | gnomAD v4 |
| 15 | g.40472374G>A | CA7481707 | CHST14 | c.*30G>A (n.*30G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472374G= | CA2171795501 | CHST14 | c.*30G= (n.*30G=) | |
| 15 | g.40472374G>T | CA2171795502 | CHST14 | c.*30G>T (n.*30G>T) | dbSNP gnomAD v4 |
| 15 | g.40472375A>T | CA2627825025 | CHST14 | c.*31A>T (n.*31A>T) | gnomAD v4 |
| 15 | g.40472376C>A | CA2627825026 | CHST14 | c.*32C>A (n.*32C>A) | gnomAD v4 |
| 15 | g.40472377T>C | CA2627825027 | CHST14 | c.*33T>C (n.*33T>C) | gnomAD v4 |
| 15 | g.40472377T= | CA2171795503 | CHST14 | c.*33T= (n.*33T=) |