Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107690128dup | CA2580076151 | SLC26A4 | c.1154dup (p.Ile386HisfsTer?) | ClinVar |
7 | g.107690128del | CA2684466521 | SLC26A4 | c.1154del (p.Phe385SerfsTer?) | gnomAD v4 |
7 | g.107690128T>A | CA368839101 | SLC26A4 | c.1154T>A (p.Phe385Tyr) | |
7 | g.107690128T>C | CA368839103 | SLC26A4 | c.1154T>C (p.Phe385Ser) | |
7 | g.107690128T>G | CA368839105 | SLC26A4 | c.1154T>G (p.Phe385Cys) | |
7 | g.107690128_107690130delinsCAGCAACATCTTCTCAGGATTCTTCTC | CA2580617072 | SLC26A4 | c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC (p.Phe385_Ile386delinsSerAlaThrSerSerGlnAspSerSerLeu) | ClinVar |
7 | g.107690129C>A | CA368839108 | SLC26A4 | c.1155C>A (p.Phe385Leu) | gnomAD v4 |
7 | g.107690129C>G | CA368839110 | SLC26A4 | c.1155C>G (p.Phe385Leu) | |
7 | g.107690129C>T | CA457090196 | SLC26A4 | c.1155C>T (p.Phe385=) | ClinVar gnomAD v4 |
7 | g.107690130A= | CA1732748205 | SLC26A4 | c.1156A= (p.Ile386=) | |
7 | g.107690130A>C | CA368839113 | SLC26A4 | c.1156A>C (p.Ile386Leu) | |
7 | g.107690130A>G | CA4432711 | SLC26A4 | c.1156A>G (p.Ile386Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107690130A>T | CA368839112 | SLC26A4 | c.1156A>T (p.Ile386Phe) | |
7 | g.107690131T>A | CA368839117 | SLC26A4 | c.1157T>A (p.Ile386Asn) | |
7 | g.107690131T>C | CA368839118 | SLC26A4 | c.1157T>C (p.Ile386Thr) | |
7 | g.107690131T>G | CA368839120 | SLC26A4 | c.1157T>G (p.Ile386Ser) | |
7 | g.107690132T>A | CA457090207 | SLC26A4 | c.1158T>A (p.Ile386=) | |
7 | g.107690132T>C | CA457090205 | SLC26A4 | c.1158T>C (p.Ile386=) | |
7 | g.107690132T>G | CA368839122 | SLC26A4 | c.1158T>G (p.Ile386Met) | |
7 | g.107690133G>A | CA368839123 | SLC26A4 | c.1159G>A (p.Ala387Thr) | |
7 | g.107690133G>C | CA368839127 | SLC26A4 | c.1159G>C (p.Ala387Pro) | |
7 | g.107690133G>T | CA368839129 | SLC26A4 | c.1159G>T (p.Ala387Ser) | ClinVar |
7 | g.107690134C>A | CA4432712 | SLC26A4 | c.1160C>A (p.Ala387Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.107690134C= | CA1732748209 | SLC26A4 | c.1160C= (p.Ala387=) | |
7 | g.107690134C>G | CA368839130 | SLC26A4 | c.1160C>G (p.Ala387Gly) | |
7 | g.107690134C>T | CA4432713 | SLC26A4 | c.1160C>T (p.Ala387Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107690135C>A | CA457090231 | SLC26A4 | c.1161C>A (p.Ala387=) | gnomAD v4 |
7 | g.107690135C= | CA1732748214 | SLC26A4 | c.1161C= (p.Ala387=) | |
7 | g.107690135C>G | CA457090229 | SLC26A4 | c.1161C>G (p.Ala387=) | |
7 | g.107690135C>T | CA457090221 | SLC26A4 | c.1161C>T (p.Ala387=) | |
7 | g.107690136T>A | CA368839131 | SLC26A4 | c.1162T>A (p.Phe388Ile) | |
7 | g.107690136T>C | CA368839132 | SLC26A4 | c.1162T>C (p.Phe388Leu) | |
7 | g.107690136T>G | CA368839133 | SLC26A4 | c.1162T>G (p.Phe388Val) | |
7 | g.107690138dup | CA645372448 | SLC26A4 | c.1164dup (p.Gly389TrpfsTer?) | ClinVar dbSNP |
7 | g.107690137T>A | CA368839136 | SLC26A4 | c.1163T>A (p.Phe388Tyr) | |
7 | g.107690137T>C | CA368839135 | SLC26A4 | c.1163T>C (p.Phe388Ser) | |
7 | g.107690137T>G | CA368839134 | SLC26A4 | c.1163T>G (p.Phe388Cys) | |
7 | g.107690138T>A | CA368839137 | SLC26A4 | c.1164T>A (p.Phe388Leu) | |
7 | g.107690138T>C | CA457090257 | SLC26A4 | c.1164T>C (p.Phe388=) | |
7 | g.107690138T>G | CA368839138 | SLC26A4 | c.1164T>G (p.Phe388Leu) | |
7 | g.107690139G>A | CA368839139 | SLC26A4 | c.1165G>A (p.Gly389Arg) | dbSNP gnomAD v4 COSMIC |
7 | g.107690139G>C | CA368839140 | SLC26A4 | c.1165G>C (p.Gly389Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107690139G= | CA1732748223 | SLC26A4 | c.1165G= (p.Gly389=) | |
7 | g.107690139G>T | CA368839141 | SLC26A4 | c.1165G>T (p.Gly389Trp) | dbSNP gnomAD v4 |
7 | g.107690140G>A | CA368839142 | SLC26A4 | c.1166G>A (p.Gly389Glu) | |
7 | g.107690140G>C | CA368839143 | SLC26A4 | c.1166G>C (p.Gly389Ala) | |
7 | g.107690140G>T | CA368839144 | SLC26A4 | c.1166G>T (p.Gly389Val) | |
7 | g.107690141G>A | CA457090281 | SLC26A4 | c.1167G>A (p.Gly389=) | dbSNP |
7 | g.107690141G>C | CA457090283 | SLC26A4 | c.1167G>C (p.Gly389=) | gnomAD v4 |
7 | g.107690141G= | CA1732748227 | SLC26A4 | c.1167G= (p.Gly389=) |