| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107690121del | CA2684466520 | SLC26A4 | c.1150-3del (n.1150-3del) | gnomAD v4 |
| 7 | g.107690121T>C | CA1732748190 | SLC26A4 | c.1150-3T>C (n.1150-3T>C) | dbSNP |
| 7 | g.107690121T= | CA1732748189 | SLC26A4 | c.1150-3T= (n.1150-3T=) | |
| 7 | g.107690122A= | CA1732748192 | SLC26A4 | c.1150-2A= (n.1150-2A=) | |
| 7 | g.107690122A>C | CA368839066 | SLC26A4 | c.1150-2A>C (n.1150-2A>C) | |
| 7 | g.107690122A>G | CA368839068 | SLC26A4 | c.1150-2A>G (n.1150-2A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107690122A>T | CA368839070 | SLC26A4 | c.1150-2A>T (n.1150-2A>T) | |
| 7 | g.107690123G>A | CA368839073 | SLC26A4 | c.1150-1G>A (n.1150-1G>A) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107690123G>C | CA368839074 | SLC26A4 | c.1150-1G>C (n.1150-1G>C) | ClinVar |
| 7 | g.107690123G= | CA1732748199 | SLC26A4 | c.1150-1G= (n.1150-1G=) | |
| 7 | g.107690123G>T | CA368839076 | SLC26A4 | c.1150-1G>T (n.1150-1G>T) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107690124G>A | CA368839079 | SLC26A4 | c.1150G>A (p.Glu384Lys) | |
| 7 | g.107690124G>C | CA368839080 | SLC26A4 | c.1150G>C (p.Glu384Gln) | |
| 7 | g.107690124G>T | CA368839082 | SLC26A4 | c.1150G>T (p.Glu384Ter) | |
| 7 | g.107690125A= | CA1732748202 | SLC26A4 | c.1151A= (p.Glu384=) | |
| 7 | g.107690125A>C | CA368839085 | SLC26A4 | c.1151A>C (p.Glu384Ala) | |
| 7 | g.107690125A>G | CA261398 | SLC26A4 | c.1151A>G (p.Glu384Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690125A>T | CA368839086 | SLC26A4 | c.1151A>T (p.Glu384Val) | |
| 7 | g.107690126A>C | CA368839091 | SLC26A4 | c.1152A>C (p.Glu384Asp) | |
| 7 | g.107690126A>G | CA457090175 | SLC26A4 | c.1152A>G (p.Glu384=) | ClinVar dbSNP |
| 7 | g.107690126A>T | CA368839092 | SLC26A4 | c.1152A>T (p.Glu384Asp) | |
| 7 | g.107690127T>A | CA368839095 | SLC26A4 | c.1153T>A (p.Phe385Ile) | |
| 7 | g.107690127T>C | CA368839096 | SLC26A4 | c.1153T>C (p.Phe385Leu) | |
| 7 | g.107690127T>G | CA368839098 | SLC26A4 | c.1153T>G (p.Phe385Val) | |
| 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) | |
| 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=) | 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) | |
| 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 |