OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107672145_107672155del | CA2695208250 | SLC26A4 | c.312_322del (p.Tyr105SerfsTer?) | |
| 7 | g.107672145A= | CA1732743985 | SLC26A4 | c.312A= (p.Ala104=) | |
| 7 | g.107672145A>C | CA4432426 | SLC26A4 | c.312A>C (p.Ala104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107672145A>G | CA457105035 | SLC26A4 | c.312A>G (p.Ala104=) | ClinVar gnomAD v4 |
| 7 | g.107672145A>T | CA457105037 | SLC26A4 | c.312A>T (p.Ala104=) | gnomAD v4 |
| 7 | g.107672146T>A | CA368846920 | SLC26A4 | c.313T>A (p.Tyr105Asn) | |
| 7 | g.107672146T>C | CA368846922 | SLC26A4 | c.313T>C (p.Tyr105His) | |
| 7 | g.107672146T>G | CA368846924 | SLC26A4 | c.313T>G (p.Tyr105Asp) | |
| 7 | g.107672147A= | CA1732743988 | SLC26A4 | c.314A= (p.Tyr105=) | |
| 7 | g.107672147A>C | CA368846926 | SLC26A4 | c.314A>C (p.Tyr105Ser) | |
| 7 | g.107672147A>G | CA368846928 | SLC26A4 | c.314A>G (p.Tyr105Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107672147A>T | CA368846929 | SLC26A4 | c.314A>T (p.Tyr105Phe) | |
| 7 | g.107672151_107672152insATCCCTGAAAGCACATGCC | CA2684459681 | SLC26A4 | c.318_319insATCCCTGAAAGCACATGCC (p.Leu107IlefsTer?) | gnomAD v4 |
| 7 | g.107672148T>A | CA368846932 | SLC26A4 | c.315T>A (p.Tyr105Ter) | |
| 7 | g.107672148T>C | CA457105043 | SLC26A4 | c.315T>C (p.Tyr105=) | |
| 7 | g.107672148T>G | CA368846933 | SLC26A4 | c.315T>G (p.Tyr105Ter) | ClinVar |
| 7 | g.107672149G>A | CA368846935 | SLC26A4 | c.316G>A (p.Ala106Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107672149G>C | CA368846937 | SLC26A4 | c.316G>C (p.Ala106Pro) | |
| 7 | g.107672149G>T | CA368846939 | SLC26A4 | c.316G>T (p.Ala106Ser) | |
| 7 | g.107672150C>A | CA368846944 | SLC26A4 | c.317C>A (p.Ala106Asp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107672150C= | CA1732743992 | SLC26A4 | c.317C= (p.Ala106=) | |
| 7 | g.107672150C>G | CA368846943 | SLC26A4 | c.317C>G (p.Ala106Gly) | |
| 7 | g.107672150C>T | CA368846941 | SLC26A4 | c.317C>T (p.Ala106Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107672151C>A | CA457105051 | SLC26A4 | c.318C>A (p.Ala106=) | gnomAD v4 |
| 7 | g.107672151C>G | CA457105052 | SLC26A4 | c.318C>G (p.Ala106=) | |
| 7 | g.107672151C>T | CA457105054 | SLC26A4 | c.318C>T (p.Ala106=) | |
| 7 | g.107672152C>A | CA368846946 | SLC26A4 | c.319C>A (p.Leu107Ile) | |
| 7 | g.107672152C= | CA1732743994 | SLC26A4 | c.319C= (p.Leu107=) | |
| 7 | g.107672152C>G | CA368846948 | SLC26A4 | c.319C>G (p.Leu107Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107672152C>T | CA457105057 | SLC26A4 | c.319C>T (p.Leu107=) | ClinVar dbSNP |
| 7 | g.107672153T>A | CA368846952 | SLC26A4 | c.320T>A (p.Leu107Gln) | gnomAD v4 |
| 7 | g.107672153T>C | CA368846953 | SLC26A4 | c.320T>C (p.Leu107Pro) | |
| 7 | g.107672153T>G | CA368846955 | SLC26A4 | c.320T>G (p.Leu107Arg) | |
| 7 | g.107672153dup | CA2739278714 | SLC26A4 | c.320dup (p.Leu108ThrfsTer?) | ClinVar |
| 7 | g.107672153_107672154dup | CA4432427 | SLC26A4 | c.320_321dup (p.Leu108TyrfsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107672154A= | CA1732744005 | SLC26A4 | c.321A= (p.Leu107=) | |
| 7 | g.107672154A>C | CA457105072 | SLC26A4 | c.321A>C (p.Leu107=) | |
| 7 | g.107672154A>G | CA4432428 | SLC26A4 | c.321A>G (p.Leu107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107672154A>T | CA457105070 | SLC26A4 | c.321A>T (p.Leu107=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.107672155del | CA2695208251 | SLC26A4 | c.322del (p.Leu108Ter) | |
| 7 | g.107672155C>A | CA368846958 | SLC26A4 | c.322C>A (p.Leu108Ile) | |
| 7 | g.107672155C= | CA1732744012 | SLC26A4 | c.322C= (p.Leu108=) | |
| 7 | g.107672155C>G | CA368846960 | SLC26A4 | c.322C>G (p.Leu108Val) | |
| 7 | g.107672155C>T | CA132725 | SLC26A4 | c.322C>T (p.Leu108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107672156T>A | CA368846964 | SLC26A4 | c.323T>A (p.Leu108Gln) | |
| 7 | g.107672156T>C | CA4432429 | SLC26A4 | c.323T>C (p.Leu108Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107672156T>G | CA368846965 | SLC26A4 | c.323T>G (p.Leu108Arg) | gnomAD v4 |
| 7 | g.107672156T= | CA1732744018 | SLC26A4 | c.323T= (p.Leu108=) | |
| 7 | g.107672157A>C | CA457105080 | SLC26A4 | c.324A>C (p.Leu108=) | |
| 7 | g.107672157A>G | CA457105081 | SLC26A4 | c.324A>G (p.Leu108=) | ClinVar dbSNP |
| 7 | g.107672157A>T | CA457105082 | SLC26A4 | c.324A>T (p.Leu108=) | |
| 7 | g.107672158G>A | CA368846971 | SLC26A4 | c.325G>A (p.Ala109Thr) | |
| 7 | g.107672158G>C | CA368846969 | SLC26A4 | c.325G>C (p.Ala109Pro) | |
| 7 | g.107672158G>T | CA368846967 | SLC26A4 | c.325G>T (p.Ala109Ser) | |
| 7 | g.107672159C>A | CA368846974 | SLC26A4 | c.326C>A (p.Ala109Asp) | gnomAD v4 |
| 7 | g.107672159C>G | CA368846972 | SLC26A4 | c.326C>G (p.Ala109Gly) | |
| 7 | g.107672159C>T | CA368846973 | SLC26A4 | c.326C>T (p.Ala109Val) | |
| 7 | g.107672160T>A | CA457105083 | SLC26A4 | c.327T>A (p.Ala109=) | |
| 7 | g.107672160T>C | CA457105085 | SLC26A4 | c.327T>C (p.Ala109=) | |
| 7 | g.107672160T>G | CA457105084 | SLC26A4 | c.327T>G (p.Ala109=) | |
| 7 | g.107672161G>A | CA164214853 | SLC26A4 | c.328G>A (p.Ala110Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107672161G>C | CA368846975 | SLC26A4 | c.328G>C (p.Ala110Pro) | |
| 7 | g.107672161G= | CA1732744025 | SLC26A4 | c.328G= (p.Ala110=) | |
| 7 | g.107672161G>T | CA4432430 | SLC26A4 | c.328G>T (p.Ala110Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107672162C>A | CA4432431 | SLC26A4 | c.329C>A (p.Ala110Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107672162C= | CA1732744029 | SLC26A4 | c.329C= (p.Ala110=) | |
| 7 | g.107672162C>G | CA368846977 | SLC26A4 | c.329C>G (p.Ala110Gly) | |
| 7 | g.107672162C>T | CA368846976 | SLC26A4 | c.329C>T (p.Ala110Val) | |
| 7 | g.107672163A>C | CA457105086 | SLC26A4 | c.330A>C (p.Ala110=) | |
| 7 | g.107672163A>G | CA457105087 | SLC26A4 | c.330A>G (p.Ala110=) | |
| 7 | g.107672163A>T | CA457105088 | SLC26A4 | c.330A>T (p.Ala110=) | |
| 7 | g.107672164G>A | CA368846978 | SLC26A4 | c.331G>A (p.Val111Ile) | |
| 7 | g.107672164G>C | CA368846980 | SLC26A4 | c.331G>C (p.Val111Leu) | |
| 7 | g.107672164G= | CA1732744031 | SLC26A4 | c.331G= (p.Val111=) | |
| 7 | g.107672164G>T | CA4432432 | SLC26A4 | c.331G>T (p.Val111Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107672165T>A | CA368846982 | SLC26A4 | c.332T>A (p.Val111Asp) | |
| 7 | g.107672165T>C | CA368846983 | SLC26A4 | c.332T>C (p.Val111Ala) | |
| 7 | g.107672165T>G | CA368846984 | SLC26A4 | c.332T>G (p.Val111Gly) | gnomAD v4 |
| 7 | g.107672166T>A | CA457105091 | SLC26A4 | c.333T>A (p.Val111=) | |
| 7 | g.107672166T>C | CA457105092 | SLC26A4 | c.333T>C (p.Val111=) | |
| 7 | g.107672166T>G | CA457105093 | SLC26A4 | c.333T>G (p.Val111=) | |
| 7 | g.107672167C>A | CA368846989 | SLC26A4 | c.334C>A (p.Pro112Thr) | |
| 7 | g.107672167C= | CA1732744036 | SLC26A4 | c.334C= (p.Pro112=) | |
| 7 | g.107672167C>G | CA368846987 | SLC26A4 | c.334C>G (p.Pro112Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107672167C>T | CA368846988 | SLC26A4 | c.334C>T (p.Pro112Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107672168C>A | CA368846991 | SLC26A4 | c.335C>A (p.Pro112His) | |
| 7 | g.107672168C>G | CA368846993 | SLC26A4 | c.335C>G (p.Pro112Arg) | |
| 7 | g.107672168C>T | CA368846995 | SLC26A4 | c.335C>T (p.Pro112Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107672169T>A | CA457105094 | SLC26A4 | c.336T>A (p.Pro112=) | |
| 7 | g.107672169T>C | CA457105095 | SLC26A4 | c.336T>C (p.Pro112=) | ClinVar |
| 7 | g.107672169T>G | CA457105096 | SLC26A4 | c.336T>G (p.Pro112=) | |
| 7 | g.107672169dup | CA2695208252 | SLC26A4 | c.336dup (p.Val113CysfsTer?) | |
| 7 | g.107672170G>A | CA368846997 | SLC26A4 | c.337G>A (p.Val113Ile) | |
| 7 | g.107672170G>C | CA368846999 | SLC26A4 | c.337G>C (p.Val113Leu) | |
| 7 | g.107672170G>T | CA368847000 | SLC26A4 | c.337G>T (p.Val113Phe) | |
| 7 | g.107672171del | CA2695199611 | SLC26A4 | c.338del (p.Val113AlafsTer13) | ClinVar |
| 7 | g.107672171T>A | CA368847002 | SLC26A4 | c.338T>A (p.Val113Asp) | |
| 7 | g.107672171T>C | CA368847004 | SLC26A4 | c.338T>C (p.Val113Ala) | dbSNP |
| 7 | g.107672171T>G | CA368847007 | SLC26A4 | c.338T>G (p.Val113Gly) | |
| 7 | g.107672171T= | CA1732744040 | SLC26A4 | c.338T= (p.Val113=) | |
| 7 | g.107672172C>A | CA457105097 | SLC26A4 | c.339C>A (p.Val113=) | |
| 7 | g.107672172C= | CA1732744043 | SLC26A4 | c.339C= (p.Val113=) | |
| 7 | g.107672172C>G | CA457105098 | SLC26A4 | c.339C>G (p.Val113=) | |
| 7 | g.107672172C>T | CA4432433 | SLC26A4 | c.339C>T (p.Val113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107672173G>A | CA4432434 | SLC26A4 | c.340G>A (p.Gly114Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.107672173G>C | CA368847012 | SLC26A4 | c.340G>C (p.Gly114Arg) | |
| 7 | g.107672173G= | CA1732744049 | SLC26A4 | c.340G= (p.Gly114=) | |
| 7 | g.107672173G>T | CA368847014 | SLC26A4 | c.340G>T (p.Gly114Ter) | |
| 7 | g.107672174G>A | CA368847021 | SLC26A4 | c.341G>A (p.Gly114Glu) | |
| 7 | g.107672174G>C | CA368847016 | SLC26A4 | c.341G>C (p.Gly114Ala) | |
| 7 | g.107672174G>T | CA368847018 | SLC26A4 | c.341G>T (p.Gly114Val) | |
| 7 | g.107672175A= | CA1732744052 | SLC26A4 | c.342A= (p.Gly114=) | |
| 7 | g.107672175A>C | CA457105099 | SLC26A4 | c.342A>C (p.Gly114=) | COSMIC |
| 7 | g.107672175A>G | CA4432435 | SLC26A4 | c.342A>G (p.Gly114=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107672175A>T | CA457105100 | SLC26A4 | c.342A>T (p.Gly114=) | |
| 7 | g.107672176T>A | CA368847023 | SLC26A4 | c.343T>A (p.Tyr115Asn) | |
| 7 | g.107672176T>C | CA368847024 | SLC26A4 | c.343T>C (p.Tyr115His) | |
| 7 | g.107672176T>G | CA368847026 | SLC26A4 | c.343T>G (p.Tyr115Asp) | |
| 7 | g.107672177A>C | CA368847029 | SLC26A4 | c.344A>C (p.Tyr115Ser) | |
| 7 | g.107672177A>G | CA368847030 | SLC26A4 | c.344A>G (p.Tyr115Cys) | |
| 7 | g.107672177A>T | CA368847032 | SLC26A4 | c.344A>T (p.Tyr115Phe) | |
| 7 | g.107672178T>A | CA368847035 | SLC26A4 | c.345T>A (p.Tyr115Ter) | |
| 7 | g.107672178T>C | CA457105101 | SLC26A4 | c.345T>C (p.Tyr115=) | |
| 7 | g.107672178T>G | CA368847033 | SLC26A4 | c.345T>G (p.Tyr115Ter) | |
| 7 | g.107672179G>A | CA368847037 | SLC26A4 | c.346G>A (p.Gly116Ser) | ClinVar |
| 7 | g.107672179G>C | CA368847038 | SLC26A4 | c.346G>C (p.Gly116Arg) | |
| 7 | g.107672179G>T | CA368847039 | SLC26A4 | c.346G>T (p.Gly116Cys) | |
| 7 | g.107672180G>A | CA368847040 | SLC26A4 | c.347G>A (p.Gly116Asp) | ClinVar dbSNP |
| 7 | g.107672180G>C | CA368847041 | SLC26A4 | c.347G>C (p.Gly116Ala) | |
| 7 | g.107672180G>T | CA368847042 | SLC26A4 | c.347G>T (p.Gly116Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107672181T>A | CA457105104 | SLC26A4 | c.348T>A (p.Gly116=) | |
| 7 | g.107672181T>C | CA457105103 | SLC26A4 | c.348T>C (p.Gly116=) | |
| 7 | g.107672181T>G | CA457105102 | SLC26A4 | c.348T>G (p.Gly116=) | |
| 7 | g.107672181_107672182delinsTC | CA1732744055 | SLC26A4 | c.348_349delinsTC (p.Gly116=) | |
| 7 | g.107672184_107672185del | CA913111815 | SLC26A4 | c.351_352del (p.Tyr118LeufsTer?) | |
| 7 | g.107672181_107672186delinsTCTCTA | CA1732744056 | SLC26A4 | c.348_353delinsTCTCTA (p.Gly116=) | |
| 7 | g.107672182del | CA577030178 | SLC26A4 | c.349del (p.Leu117SerfsTer9) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107672182C>A | CA368847043 | SLC26A4 | c.349C>A (p.Leu117Ile) | |
| 7 | g.107672182C= | CA1732744062 | SLC26A4 | c.349C= (p.Leu117=) | |
| 7 | g.107672182C>G | CA368847044 | SLC26A4 | c.349C>G (p.Leu117Val) | |
| 7 | g.107672182C>T | CA132727 | SLC26A4 | c.349C>T (p.Leu117Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107672186_107672190del | CA1105626749 | SLC26A4 | c.353_357del (p.Tyr118CysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107672183T>A | CA368847045 | SLC26A4 | c.350T>A (p.Leu117His) | |
| 7 | g.107672183T>C | CA368847049 | SLC26A4 | c.350T>C (p.Leu117Pro) | |
| 7 | g.107672183T>G | CA368847051 | SLC26A4 | c.350T>G (p.Leu117Arg) | |
| 7 | g.107672184C>A | CA457105105 | SLC26A4 | c.351C>A (p.Leu117=) | |
| 7 | g.107672184C>G | CA457105106 | SLC26A4 | c.351C>G (p.Leu117=) | |
| 7 | g.107672184C>T | CA457105107 | SLC26A4 | c.351C>T (p.Leu117=) | |
| 7 | g.107672185T>A | CA368847053 | SLC26A4 | c.352T>A (p.Tyr118Asn) | |
| 7 | g.107672185T>C | CA368847055 | SLC26A4 | c.352T>C (p.Tyr118His) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107672185T>G | CA368847058 | SLC26A4 | c.352T>G (p.Tyr118Asp) | |
| 7 | g.107672185T= | CA1732744065 | SLC26A4 | c.352T= (p.Tyr118=) | |
| 7 | g.107672186A= | CA1732744067 | SLC26A4 | c.353A= (p.Tyr118=) | |
| 7 | g.107672186A>C | CA368847059 | SLC26A4 | c.353A>C (p.Tyr118Ser) | dbSNP |
| 7 | g.107672186A>G | CA368847061 | SLC26A4 | c.353A>G (p.Tyr118Cys) | |
| 7 | g.107672186A>T | CA368847063 | SLC26A4 | c.353A>T (p.Tyr118Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107672187C>A | CA368847065 | SLC26A4 | c.354C>A (p.Tyr118Ter) | |
| 7 | g.107672187C>G | CA368847067 | SLC26A4 | c.354C>G (p.Tyr118Ter) | |
| 7 | g.107672187C>T | CA457105108 | SLC26A4 | c.354C>T (p.Tyr118=) | |
| 7 | g.107672188T>A | CA368847070 | SLC26A4 | c.355T>A (p.Ser119Thr) | |
| 7 | g.107672188T>C | CA368847073 | SLC26A4 | c.355T>C (p.Ser119Pro) | gnomAD v4 |
| 7 | g.107672188T>G | CA368847072 | SLC26A4 | c.355T>G (p.Ser119Ala) | |
| 7 | g.107672189C>A | CA368847075 | SLC26A4 | c.356C>A (p.Ser119Tyr) | |
| 7 | g.107672189C>G | CA368847078 | SLC26A4 | c.356C>G (p.Ser119Cys) | |
| 7 | g.107672189C>T | CA368847076 | SLC26A4 | c.356C>T (p.Ser119Phe) | |
| 7 | g.107672190del | CA2684459844 | SLC26A4 | c.357del (p.Ala120LeufsTer6) | gnomAD v4 |
| 7 | g.107672190T>A | CA457105109 | SLC26A4 | c.357T>A (p.Ser119=) | |
| 7 | g.107672190T>C | CA457105110 | SLC26A4 | c.357T>C (p.Ser119=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107672190T>G | CA457105111 | SLC26A4 | c.357T>G (p.Ser119=) | |
| 7 | g.107672191G>A | CA368847080 | SLC26A4 | c.358G>A (p.Ala120Thr) | |
| 7 | g.107672191G>C | CA368847082 | SLC26A4 | c.358G>C (p.Ala120Pro) | ClinVar dbSNP |
| 7 | g.107672191G>T | CA368847087 | SLC26A4 | c.358G>T (p.Ala120Ser) | |
| 7 | g.107672192C>A | CA368847090 | SLC26A4 | c.359C>A (p.Ala120Asp) | |
| 7 | g.107672192C= | CA1732744069 | SLC26A4 | c.359C= (p.Ala120=) | |
| 7 | g.107672192C>G | CA368847095 | SLC26A4 | c.359C>G (p.Ala120Gly) | |
| 7 | g.107672192C>T | CA368847096 | SLC26A4 | c.359C>T (p.Ala120Val) | |
| 7 | g.107672193T>A | CA457105112 | SLC26A4 | c.360T>A (p.Ala120=) | |
| 7 | g.107672193T>C | CA457105113 | SLC26A4 | c.360T>C (p.Ala120=) | ClinVar |
| 7 | g.107672193T>G | CA457105114 | SLC26A4 | c.360T>G (p.Ala120=) | |
| 7 | g.107672198dup | CA274422 | SLC26A4 | c.365dup (p.Ile124TyrfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107672198del | CA2499218641 | SLC26A4 | c.365del (p.Phe122SerfsTer4) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107672194T>A | CA368847097 | SLC26A4 | c.361T>A (p.Phe121Ile) | |
| 7 | g.107672194T>C | CA368847098 | SLC26A4 | c.361T>C (p.Phe121Leu) | |
| 7 | g.107672194T>G | CA368847101 | SLC26A4 | c.361T>G (p.Phe121Val) | |
| 7 | g.107672195T>A | CA368847103 | SLC26A4 | c.362T>A (p.Phe121Tyr) | |
| 7 | g.107672195T>C | CA368847104 | SLC26A4 | c.362T>C (p.Phe121Ser) | |
| 7 | g.107672195T>G | CA368847105 | SLC26A4 | c.362T>G (p.Phe121Cys) | |
| 7 | g.107672196T>A | CA368847106 | SLC26A4 | c.363T>A (p.Phe121Leu) | |
| 7 | g.107672196T>C | CA457105116 | SLC26A4 | c.363T>C (p.Phe121=) | |
| 7 | g.107672196T>G | CA368847107 | SLC26A4 | c.363T>G (p.Phe121Leu) | |
| 7 | g.107672197T>A | CA368847108 | SLC26A4 | c.364T>A (p.Phe122Ile) | |
| 7 | g.107672197T>C | CA368847109 | SLC26A4 | c.364T>C (p.Phe122Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107672197T>G | CA368847110 | SLC26A4 | c.364T>G (p.Phe122Val) | |
| 7 | g.107672197T= | CA1732744079 | SLC26A4 | c.364T= (p.Phe122=) | |
| 7 | g.107672198T>A | CA368847111 | SLC26A4 | c.365T>A (p.Phe122Tyr) | |
| 7 | g.107672198T>C | CA368847112 | SLC26A4 | c.365T>C (p.Phe122Ser) | |
| 7 | g.107672198T>G | CA368847113 | SLC26A4 | c.365T>G (p.Phe122Cys) | |
| 7 | g.107672199C>A | CA368847114 | SLC26A4 | c.366C>A (p.Phe122Leu) | |
| 7 | g.107672199C>G | CA368847116 | SLC26A4 | c.366C>G (p.Phe122Leu) | |
| 7 | g.107672199C>T | CA457105117 | SLC26A4 | c.366C>T (p.Phe122=) | ClinVar |
| 7 | g.107672200C>A | CA368847117 | SLC26A4 | c.367C>A (p.Pro123Thr) | |
| 7 | g.107672200C= | CA1732744089 | SLC26A4 | c.367C= (p.Pro123=) | |
| 7 | g.107672200C>G | CA368847119 | SLC26A4 | c.367C>G (p.Pro123Ala) | |
| 7 | g.107672200C>T | CA164214883 | SLC26A4 | c.367C>T (p.Pro123Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.107672201C>A | CA368847128 | SLC26A4 | c.368C>A (p.Pro123His) | COSMIC |
| 7 | g.107672201C>G | CA368847127 | SLC26A4 | c.368C>G (p.Pro123Arg) | |
| 7 | g.107672201C>T | CA368847125 | SLC26A4 | c.368C>T (p.Pro123Leu) | |
| 7 | g.107672202T>A | CA457105118 | SLC26A4 | c.369T>A (p.Pro123=) | |
| 7 | g.107672202T>C | CA457105119 | SLC26A4 | c.369T>C (p.Pro123=) | |
| 7 | g.107672202T>G | CA457105120 | SLC26A4 | c.369T>G (p.Pro123=) | |
| 7 | g.107672203A= | CA1732744097 | SLC26A4 | c.370A= (p.Ile124=) | |
| 7 | g.107672203A>C | CA368847130 | SLC26A4 | c.370A>C (p.Ile124Leu) | |
| 7 | g.107672203A>G | CA4432436 | SLC26A4 | c.370A>G (p.Ile124Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.107672203A>T | CA368847133 | SLC26A4 | c.370A>T (p.Ile124Phe) | |
| 7 | g.107672204T>A | CA10627905 | SLC26A4 | c.371T>A (p.Ile124Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107672204T>C | CA368847136 | SLC26A4 | c.371T>C (p.Ile124Thr) | |
| 7 | g.107672204T>G | CA368847138 | SLC26A4 | c.371T>G (p.Ile124Ser) | |
| 7 | g.107672204T= | CA1732744101 | SLC26A4 | c.371T= (p.Ile124=) | |
| 7 | g.107672205C>A | CA457105121 | SLC26A4 | c.372C>A (p.Ile124=) | COSMIC |
| 7 | g.107672205C>G | CA368847140 | SLC26A4 | c.372C>G (p.Ile124Met) | gnomAD v4 |
| 7 | g.107672205C>T | CA457105122 | SLC26A4 | c.372C>T (p.Ile124=) | |
| 7 | g.107672206C>A | CA368847142 | SLC26A4 | c.373C>A (p.Leu125Met) | |
| 7 | g.107672206C= | CA1732744107 | SLC26A4 | c.373C= (p.Leu125=) | |
| 7 | g.107672206C>G | CA368847146 | SLC26A4 | c.373C>G (p.Leu125Val) | |
| 7 | g.107672206C>T | CA4432437 | SLC26A4 | c.373C>T (p.Leu125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107672207T>A | CA368847148 | SLC26A4 | c.374T>A (p.Leu125Gln) | |
| 7 | g.107672207T>C | CA368847149 | SLC26A4 | c.374T>C (p.Leu125Pro) | |
| 7 | g.107672207T>G | CA368847150 | SLC26A4 | c.374T>G (p.Leu125Arg) | |
| 7 | g.107672208G>A | CA457105124 | SLC26A4 | c.375G>A (p.Leu125=) | |
| 7 | g.107672208G>C | CA457105125 | SLC26A4 | c.375G>C (p.Leu125=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107672208G= | CA1732744110 | SLC26A4 | c.375G= (p.Leu125=) | |
| 7 | g.107672208G>T | CA457105126 | SLC26A4 | c.375G>T (p.Leu125=) | |
| 7 | g.107672209A= | CA1732744112 | SLC26A4 | c.376A= (p.Thr126=) | |
| 7 | g.107672209A>C | CA368847155 | SLC26A4 | c.376A>C (p.Thr126Pro) | gnomAD v4 |
| 7 | g.107672209A>G | CA368847152 | SLC26A4 | c.376A>G (p.Thr126Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107672209A>T | CA368847154 | SLC26A4 | c.376A>T (p.Thr126Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107672210C>A | CA368847157 | SLC26A4 | c.377C>A (p.Thr126Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107672210C= | CA1732744116 | SLC26A4 | c.377C= (p.Thr126=) | |
| 7 | g.107672210C>G | CA368847159 | SLC26A4 | c.377C>G (p.Thr126Arg) | |
| 7 | g.107672210C>T | CA368847161 | SLC26A4 | c.377C>T (p.Thr126Ile) | |
| 7 | g.107672211A>C | CA457105127 | SLC26A4 | c.378A>C (p.Thr126=) | |
| 7 | g.107672211A>G | CA457105128 | SLC26A4 | c.378A>G (p.Thr126=) | gnomAD v4 |
| 7 | g.107672211A>T | CA457105129 | SLC26A4 | c.378A>T (p.Thr126=) | |
| 7 | g.107672212T>A | CA368847162 | SLC26A4 | c.379T>A (p.Tyr127Asn) | |
| 7 | g.107672212T>C | CA4432438 | SLC26A4 | c.379T>C (p.Tyr127His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107672212T>G | CA368847165 | SLC26A4 | c.379T>G (p.Tyr127Asp) | |
| 7 | g.107672212T= | CA1732744119 | SLC26A4 | c.379T= (p.Tyr127=) | |
| 7 | g.107672213A= | CA1732744123 | SLC26A4 | c.380A= (p.Tyr127=) | |
| 7 | g.107672213A>C | CA368847166 | SLC26A4 | c.380A>C (p.Tyr127Ser) | |
| 7 | g.107672213A>G | CA368847169 | SLC26A4 | c.380A>G (p.Tyr127Cys) | dbSNP gnomAD v4 |
| 7 | g.107672213A>T | CA368847171 | SLC26A4 | c.380A>T (p.Tyr127Phe) | |
| 7 | g.107672213_107672214delinsAC | CA1732744122 | SLC26A4 | c.380_381delinsAC (p.Tyr127=) | |
| 7 | g.107672214del | CA4432439 | SLC26A4 | c.381del (p.Phe128LeufsTer17) c.381del (p.Phe128LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107672214C>A | CA368847172 | SLC26A4 | c.381C>A (p.Tyr127Ter) | |
| 7 | g.107672214C>G | CA368847174 | SLC26A4 | c.381C>G (p.Tyr127Ter) | gnomAD v4 |
| 7 | g.107672214C>T | CA457105130 | SLC26A4 | c.381C>T (p.Tyr127=) | gnomAD v4 |
| 7 | g.107672214_107672217delinsCTTT | CA1732744128 | SLC26A4 | c.381_384delinsCTTT (p.Tyr127=) | |
| 7 | g.107672215T>A | CA368847182 | SLC26A4 | c.382T>A (p.Phe128Ile) | |
| 7 | g.107672215T>C | CA368847184 | SLC26A4 | c.382T>C (p.Phe128Leu) | |
| 7 | g.107672215T>G | CA368847185 | SLC26A4 | c.382T>G (p.Phe128Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107672215T= | CA1732744141 | SLC26A4 | c.382T= (p.Phe128=) | |
| 7 | g.107672215_107672217delinsAA | CA10607073 | SLC26A4 | c.382_384delinsAA (p.Phe128LysfsTer17) c.382_384delinsAA (p.Phe128LysfsTer?) | ClinVar dbSNP |
| 7 | g.107672217del | CA2684459927 | SLC26A4 | c.384del (p.Phe128LeufsTer17) c.384del (p.Phe128LeufsTer?) | gnomAD v4 |
| 7 | g.107672216T>A | CA368847189 | SLC26A4 | c.383T>A (p.Phe128Tyr) | |
| 7 | g.107672216T>C | CA368847187 | SLC26A4 | c.383T>C (p.Phe128Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107672216T>G | CA368847188 | SLC26A4 | c.383T>G (p.Phe128Cys) | |
| 7 | g.107672216T= | CA1732744145 | SLC26A4 | c.383T= (p.Phe128=) | |
| 7 | g.107672217T>A | CA368847194 | SLC26A4 | c.384T>A (p.Phe128Leu) | |
| 7 | g.107672217T>C | CA457105134 | SLC26A4 | c.384T>C (p.Phe128=) | |
| 7 | g.107672217T>G | CA368847196 | SLC26A4 | c.384T>G (p.Phe128Leu) | |
| 7 | g.107672218A= | CA1732744149 | SLC26A4 | c.385A= (p.Ile129=) | |
| 7 | g.107672218A>C | CA368847199 | SLC26A4 | c.385A>C (p.Ile129Leu) | |
| 7 | g.107672218A>G | CA4432440 | SLC26A4 | c.385A>G (p.Ile129Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107672218A>T | CA368847201 | SLC26A4 | c.385A>T (p.Ile129Phe) | |
| 7 | g.107672219T>A | CA4432441 | SLC26A4 | c.386T>A (p.Ile129Asn) | dbSNP ExAC gnomAD v2 |
| 7 | g.107672219T>C | CA368847202 | SLC26A4 | c.386T>C (p.Ile129Thr) | |
| 7 | g.107672219T>G | CA368847203 | SLC26A4 | c.386T>G (p.Ile129Ser) | |
| 7 | g.107672219T= | CA1732744152 | SLC26A4 | c.386T= (p.Ile129=) | |
| 7 | g.107672220del | CA2499218642 | SLC26A4 | c.387del (p.Phe130LeufsTer15) c.387del (p.Phe130LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107672220C>A | CA457105135 | SLC26A4 | c.387C>A (p.Ile129=) | ClinVar dbSNP |
| 7 | g.107672220C= | CA1732744154 | SLC26A4 | c.387C= (p.Ile129=) | |
| 7 | g.107672220C>G | CA368847205 | SLC26A4 | c.387C>G (p.Ile129Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107672220C>T | CA457105136 | SLC26A4 | c.387C>T (p.Ile129=) | |
| 7 | g.107672221T>A | CA368847207 | SLC26A4 | c.388T>A (p.Phe130Ile) | |
| 7 | g.107672221T>C | CA368847209 | SLC26A4 | c.388T>C (p.Phe130Leu) | |
| 7 | g.107672221T>G | CA368847210 | SLC26A4 | c.388T>G (p.Phe130Val) | |
| 7 | g.107672222T>A | CA368847215 | SLC26A4 | c.389T>A (p.Phe130Tyr) | |
| 7 | g.107672222T>C | CA368847213 | SLC26A4 | c.389T>C (p.Phe130Ser) | |
| 7 | g.107672222T>G | CA368847211 | SLC26A4 | c.389T>G (p.Phe130Cys) | |
| 7 | g.107672223T>A | CA368847217 | SLC26A4 | c.390T>A (p.Phe130Leu) | |
| 7 | g.107672223T>C | CA457105139 | SLC26A4 | c.390T>C (p.Phe130=) | |
| 7 | g.107672223T>G | CA368847223 | SLC26A4 | c.390T>G (p.Phe130Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107672223T= | CA1732744157 | SLC26A4 | c.390T= (p.Phe130=) | |
| 7 | g.107672224G>A | CA368847225 | SLC26A4 | c.391G>A (p.Gly131Arg) | |
| 7 | g.107672224G>C | CA368847227 | SLC26A4 | c.391G>C (p.Gly131Arg) | ClinVar dbSNP |
| 7 | g.107672224G= | CA1732744161 | SLC26A4 | c.391G= (p.Gly131=) | |
| 7 | g.107672224G>T | CA368847229 | SLC26A4 | c.391G>T (p.Gly131Ter) | |
| 7 | g.107672225G>A | CA368847230 | SLC26A4 | c.392G>A (p.Gly131Glu) | |
| 7 | g.107672225G>C | CA368847231 | SLC26A4 | c.392G>C (p.Gly131Ala) | |
| 7 | g.107672225G= | CA1732744169 | SLC26A4 | c.392G= (p.Gly131=) | |
| 7 | g.107672225G>T | CA368847232 | SLC26A4 | c.392G>T (p.Gly131Val) | ClinVar dbSNP |
| 7 | g.107672226A>C | CA457105140 | SLC26A4 | c.393A>C (p.Gly131=) | |
| 7 | g.107672226A>G | CA457105141 | SLC26A4 | c.393A>G (p.Gly131=) | gnomAD v4 |
| 7 | g.107672226A>T | CA457105142 | SLC26A4 | c.393A>T (p.Gly131=) | |
| 7 | g.107672227A>C | CA368847234 | SLC26A4 | c.394A>C (p.Thr132Pro) | |
| 7 | g.107672227A>G | CA368847236 | SLC26A4 | c.394A>G (p.Thr132Ala) | |
| 7 | g.107672227A>T | CA368847238 | SLC26A4 | c.394A>T (p.Thr132Ser) | |
| 7 | g.107672228C>A | CA368847240 | SLC26A4 | c.395C>A (p.Thr132Lys) | gnomAD v4 |
| 7 | g.107672228C= | CA1732744177 | SLC26A4 | c.395C= (p.Thr132=) | |
| 7 | g.107672228C>G | CA368847241 | SLC26A4 | c.395C>G (p.Thr132Arg) | dbSNP |
| 7 | g.107672228C>T | CA368847243 | SLC26A4 | c.395C>T (p.Thr132Ile) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107672229A>C | CA457105146 | SLC26A4 | c.396A>C (p.Thr132=) | gnomAD v4 |
| 7 | g.107672229A>G | CA457105147 | SLC26A4 | c.396A>G (p.Thr132=) | gnomAD v4 |
| 7 | g.107672229A>T | CA457105148 | SLC26A4 | c.396A>T (p.Thr132=) | |
| 7 | g.107672229_107672231delinsATC | CA1732744180 | SLC26A4 | c.396_398delinsATC (p.Thr132=) | |
| 7 | g.107672230T>A | CA253311 | SLC26A4 | c.397T>A (p.Ser133Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107672230T>C | CA368847248 | SLC26A4 | c.397T>C (p.Ser133Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107672230T>G | CA368847250 | SLC26A4 | c.397T>G (p.Ser133Ala) | COSMIC |
| 7 | g.107672230T= | CA1732744181 | SLC26A4 | c.397T= (p.Ser133=) | |
| 7 | g.107672230_107672231delinsA | CA261432 | SLC26A4 | c.397_398delinsA (p.Ser133LysfsTer12) | ClinVar dbSNP |
| 7 | g.107672231C>A | CA368847252 | SLC26A4 | c.398C>A (p.Ser133Ter) | ClinVar gnomAD v4 |
| 7 | g.107672231C>G | CA368847254 | SLC26A4 | c.398C>G (p.Ser133Ter) | ClinVar |
| 7 | g.107672231C>T | CA368847255 | SLC26A4 | c.398C>T (p.Ser133Leu) | ClinVar dbSNP |
| 7 | g.107672232A>C | CA457105152 | SLC26A4 | c.399A>C (p.Ser133=) | |
| 7 | g.107672232A>G | CA457105151 | SLC26A4 | c.399A>G (p.Ser133=) | |
| 7 | g.107672232A>T | CA457105150 | SLC26A4 | c.399A>T (p.Ser133=) | |
| 7 | g.107672233A= | CA1732744188 | SLC26A4 | c.400A= (p.Arg134=) | |
| 7 | g.107672233A>C | CA457105153 | SLC26A4 | c.400A>C (p.Arg134=) | |
| 7 | g.107672233A>G | CA4432442 | SLC26A4 | c.400A>G (p.Arg134Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107672233A>T | CA368847258 | SLC26A4 | c.400A>T (p.Arg134Ter) | |
| 7 | g.107672234G>A | CA368847266 | SLC26A4 | c.401G>A (p.Arg134Lys) | |
| 7 | g.107672234G>C | CA368847260 | SLC26A4 | c.401G>C (p.Arg134Thr) | ClinVar dbSNP |
| 7 | g.107672234G= | CA1732744191 | SLC26A4 | c.401G= (p.Arg134=) | |
| 7 | g.107672234G>T | CA368847263 | SLC26A4 | c.401G>T (p.Arg134Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107672235A>C | CA368847269 | SLC26A4 | c.402A>C (p.Arg134Ser) | |
| 7 | g.107672235A>G | CA457105155 | SLC26A4 | c.402A>G (p.Arg134=) | ClinVar dbSNP COSMIC |
| 7 | g.107672235A>T | CA368847271 | SLC26A4 | c.402A>T (p.Arg134Ser) | |
| 7 | g.107672236C>A | CA368847275 | SLC26A4 | c.403C>A (p.His135Asn) | gnomAD v4 |
| 7 | g.107672236C>G | CA368847277 | SLC26A4 | c.403C>G (p.His135Asp) | |
| 7 | g.107672236C>T | CA368847278 | SLC26A4 | c.403C>T (p.His135Tyr) | gnomAD v4 |
| 7 | g.107672237A>C | CA368847281 | SLC26A4 | c.404A>C (p.His135Pro) | |
| 7 | g.107672237A>G | CA368847287 | SLC26A4 | c.404A>G (p.His135Arg) | |
| 7 | g.107672237A>T | CA368847284 | SLC26A4 | c.404A>T (p.His135Leu) | |
| 7 | g.107672239_107672240dup | CA2580617071 | SLC26A4 | c.406_407dup (p.Val138GlnfsTer8) | ClinVar dbSNP |
| 7 | g.107672238T>A | CA368847291 | SLC26A4 | c.405T>A (p.His135Gln) | |
| 7 | g.107672238T>C | CA457105156 | SLC26A4 | c.405T>C (p.His135=) | |
| 7 | g.107672238T>G | CA368847293 | SLC26A4 | c.405T>G (p.His135Gln) | dbSNP |
| 7 | g.107672238T= | CA1732744193 | SLC26A4 | c.405T= (p.His135=) | |
| 7 | g.107672238_107672243delinsTATCTC | CA1732744192 | SLC26A4 | c.405_410delinsTATCTC (p.His135=) | |
| 7 | g.107672239A= | CA1732744195 | SLC26A4 | c.406A= (p.Ile136=) | |
| 7 | g.107672239A>C | CA368847296 | SLC26A4 | c.406A>C (p.Ile136Leu) | |
| 7 | g.107672239A>G | CA4432443 | SLC26A4 | c.406A>G (p.Ile136Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107672239A>T | CA368847301 | SLC26A4 | c.406A>T (p.Ile136Phe) | |
| 7 | g.107672239_107672240delinsAT | CA1732744196 | SLC26A4 | c.406_407delinsAT (p.Ile136=) | |
| 7 | g.107672240_107672244del | CA577030185 | SLC26A4 | c.407_411del (p.Ile136SerfsTer?) | dbSNP gnomAD v2 |
| 7 | g.107672240del | CA577030186 | SLC26A4 | c.407del (p.Ile136ThrfsTer9) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107672240T>A | CA368847303 | SLC26A4 | c.407T>A (p.Ile136Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107672240T>C | CA164214935 | SLC26A4 | c.407T>C (p.Ile136Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107672240T>G | CA368847308 | SLC26A4 | c.407T>G (p.Ile136Ser) | |
| 7 | g.107672240T= | CA1732744198 | SLC26A4 | c.407T= (p.Ile136=) | |
| 7 | g.107672242_107672243del | CA2578988663 | SLC26A4 | c.409_410del (p.Val138TrpfsTer?) | |
| 7 | g.107672241C>A | CA457105160 | SLC26A4 | c.408C>A (p.Ile136=) | gnomAD v4 |
| 7 | g.107672241C= | CA1732744204 | SLC26A4 | c.408C= (p.Ile136=) | |
| 7 | g.107672241C>G | CA368847311 | SLC26A4 | c.408C>G (p.Ile136Met) | |
| 7 | g.107672241C>T | CA4432444 | SLC26A4 | c.408C>T (p.Ile136=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107672242T>A | CA368847314 | SLC26A4 | c.409T>A (p.Ser137Thr) | |
| 7 | g.107672242T>C | CA368847328 | SLC26A4 | c.409T>C (p.Ser137Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107672242T>G | CA368847326 | SLC26A4 | c.409T>G (p.Ser137Ala) | |
| 7 | g.107672242T= | CA1732744207 | SLC26A4 | c.409T= (p.Ser137=) | |
| 7 | g.107672243C>A | CA368847330 | SLC26A4 | c.410C>A (p.Ser137Ter) | gnomAD v4 |
| 7 | g.107672243C>G | CA368847335 | SLC26A4 | c.410C>G (p.Ser137Ter) | |
| 7 | g.107672243C>T | CA368847332 | SLC26A4 | c.410C>T (p.Ser137Leu) | gnomAD v4 |
| 7 | g.107672244A= | CA1732744209 | SLC26A4 | c.411A= (p.Ser137=) | |
| 7 | g.107672244A>C | CA457105164 | SLC26A4 | c.411A>C (p.Ser137=) | ClinVar gnomAD v4 |
| 7 | g.107672244A>G | CA457105166 | SLC26A4 | c.411A>G (p.Ser137=) | |
| 7 | g.107672244A>T | CA457105165 | SLC26A4 | c.411A>T (p.Ser137=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107672244_107672246delinsAGT | CA1732744211 | SLC26A4 | c.411_413delinsAGT (p.Ser137=) | |
| 7 | g.107672244_107672247del | CA2777354886 | SLC26A4 | c.411_414del (p.Val138AspfsTer6) | |
| 7 | g.107672244_107672265delinsAGTTGGTAATTATAAGTATATT | CA1732744212 | SLC26A4 | c.411_415+17delinsAGTTGGTAATTATAAGTATATT | |
| 7 | g.107672245G>A | CA164214939 | SLC26A4 | c.412G>A (p.Val138Ile) | dbSNP gnomAD v4 |
| 7 | g.107672245G>C | CA368847338 | SLC26A4 | c.412G>C (p.Val138Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107672245G= | CA1732744222 | SLC26A4 | c.412G= (p.Val138=) | |
| 7 | g.107672245G>T | CA253312 | SLC26A4 | c.412G>T (p.Val138Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107672245_107672246del | CA577030187 | SLC26A4 | c.412_413del (p.Val138TrpfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107672245_107672246delinsGT | CA1732744215 | SLC26A4 | c.412_413delinsGT (p.Val138=) | |
| 7 | g.107672245_107672265del | CA1732744223 | SLC26A4 | c.412_415+17del | dbSNP |
| 7 | g.107672245_107672269delinsTGACA | CA2695199612 | SLC26A4 | c.412_415+21delinsTGACA | ClinVar |