UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
| X | g.71223751_71223752delinsGG | CA2436388106 | GJB1 | c.44_45delinsGG (p.Arg15=) | |
| X | g.71223751_71223752delinsTT | CA915951171 | GJB1 | c.44_45delinsTT (p.Arg15Leu) | ClinVar dbSNP |
| X | g.71223754_71223770del | CA2695234555 | GJB1 | c.47_63del (p.His16ProfsTer25) | |
| X | g.71223752G>A | CA516718543 | GJB1 | c.45G>A (p.Arg15=) | dbSNP gnomAD v4 |
| X | g.71223752G>C | CA516718546 | GJB1 | c.45G>C (p.Arg15=) | |
| X | g.71223752G= | CA2436388107 | GJB1 | c.45G= (p.Arg15=) | |
| X | g.71223752G>T | CA516718549 | GJB1 | c.45G>T (p.Arg15=) | |
| X | g.71223753C>A | CA413499529 | GJB1 | c.46C>A (p.His16Asn) | |
| X | g.71223753C>G | CA413499532 | GJB1 | c.46C>G (p.His16Asp) | ClinVar dbSNP |
| X | g.71223753C>T | CA413499533 | GJB1 | c.46C>T (p.His16Tyr) | |
| X | g.71223754A= | CA2436388108 | GJB1 | c.47A= (p.His16=) | |
| X | g.71223754A>C | CA413499537 | GJB1 | c.47A>C (p.His16Pro) | ClinVar dbSNP |
| X | g.71223754A>G | CA413499542 | GJB1 | c.47A>G (p.His16Arg) | ClinVar dbSNP |
| X | g.71223754A>T | CA413499545 | GJB1 | c.47A>T (p.His16Leu) | ClinVar dbSNP |
| X | g.71223755T>A | CA413499550 | GJB1 | c.48T>A (p.His16Gln) | |
| X | g.71223755T>C | CA516718561 | GJB1 | c.48T>C (p.His16=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223755T>G | CA413499547 | GJB1 | c.48T>G (p.His16Gln) | ClinVar dbSNP |
| X | g.71223755T= | CA2436388109 | GJB1 | c.48T= (p.His16=) | |
| X | g.71223756T>A | CA413499552 | GJB1 | c.49T>A (p.Ser17Thr) | |
| X | g.71223756T>C | CA413499555 | GJB1 | c.49T>C (p.Ser17Pro) | |
| X | g.71223756T>G | CA413499557 | GJB1 | c.49T>G (p.Ser17Ala) | |
| X | g.71223756_71223759delinsTCTA | CA2436388110 | GJB1 | c.49_52delinsTCTA (p.Ser17=) | |
| X | g.71223757C>A | CA413499560 | GJB1 | c.50C>A (p.Ser17Tyr) | ClinVar dbSNP |
| X | g.71223757C= | CA2436388111 | GJB1 | c.50C= (p.Ser17=) | |
| X | g.71223757C>G | CA413499562 | GJB1 | c.50C>G (p.Ser17Cys) | ClinVar dbSNP |
| X | g.71223757C>T | CA413499563 | GJB1 | c.50C>T (p.Ser17Phe) | |
| X | g.71223759_71223761del | CA916081269 | GJB1 | c.52_54del (p.Thr18del) | ClinVar dbSNP |
| X | g.71223758T>A | CA516718577 | GJB1 | c.51T>A (p.Ser17=) | |
| X | g.71223758T>C | CA516718580 | GJB1 | c.51T>C (p.Ser17=) | |
| X | g.71223758T>G | CA516718582 | GJB1 | c.51T>G (p.Ser17=) | |
| X | g.71223759A= | CA2436388112 | GJB1 | c.52A= (p.Thr18=) | |
| X | g.71223759A>C | CA413500635 | GJB1 | c.52A>C (p.Thr18Pro) | |
| X | g.71223759A>G | CA413500626 | GJB1 | c.52A>G (p.Thr18Ala) | ClinVar dbSNP |
| X | g.71223759A>T | CA413500633 | GJB1 | c.52A>T (p.Thr18Ser) | ClinVar |
| X | g.71223760C>A | CA413500637 | GJB1 | c.53C>A (p.Thr18Asn) | |
| X | g.71223760C= | CA2436388113 | GJB1 | c.53C= (p.Thr18=) | |
| X | g.71223760C>G | CA413500639 | GJB1 | c.53C>G (p.Thr18Ser) | ClinVar dbSNP |
| X | g.71223760C>T | CA413500641 | GJB1 | c.53C>T (p.Thr18Ile) | |
| X | g.71223761T>A | CA516820999 | GJB1 | c.54T>A (p.Thr18=) | |
| X | g.71223761T>C | CA516821003 | GJB1 | c.54T>C (p.Thr18=) | ClinVar gnomAD v4 |
| X | g.71223761T>G | CA516821004 | GJB1 | c.54T>G (p.Thr18=) | |
| X | g.71223762G>A | CA413500644 | GJB1 | c.55G>A (p.Ala19Thr) | |
| X | g.71223762G>C | CA413500647 | GJB1 | c.55G>C (p.Ala19Pro) | |
| X | g.71223762G>T | CA413500650 | GJB1 | c.55G>T (p.Ala19Ser) | |
| X | g.71223763C>A | CA413500655 | GJB1 | c.56C>A (p.Ala19Asp) | ClinVar gnomAD v4 |
| X | g.71223763C>G | CA413500658 | GJB1 | c.56C>G (p.Ala19Gly) | |
| X | g.71223763C>T | CA413500652 | GJB1 | c.56C>T (p.Ala19Val) | |
| X | g.71223764dup | CA2695234556 | GJB1 | c.57dup (p.Ile20HisfsTer27) | |
| X | g.71223764C>A | CA516821014 | GJB1 | c.57C>A (p.Ala19=) | |
| X | g.71223764C= | CA2436388114 | GJB1 | c.57C= (p.Ala19=) | |
| X | g.71223764C>G | CA516821015 | GJB1 | c.57C>G (p.Ala19=) | |
| X | g.71223764C>T | CA10445275 | GJB1 | c.57C>T (p.Ala19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71223765A= | CA2436388115 | GJB1 | c.58A= (p.Ile20=) | |
| X | g.71223765A>C | CA413500666 | GJB1 | c.58A>C (p.Ile20Leu) | |
| X | g.71223765A>G | CA413500671 | GJB1 | c.58A>G (p.Ile20Val) | ClinVar dbSNP |
| X | g.71223765A>T | CA413500669 | GJB1 | c.58A>T (p.Ile20Phe) | ClinVar |
| X | g.71223766T>A | CA413500674 | GJB1 | c.59T>A (p.Ile20Asn) | ClinVar dbSNP |
| X | g.71223766T>C | CA413500677 | GJB1 | c.59T>C (p.Ile20Thr) | ClinVar dbSNP |
| X | g.71223766T>G | CA413500679 | GJB1 | c.59T>G (p.Ile20Ser) | ClinVar dbSNP |
| X | g.71223766T= | CA2436388116 | GJB1 | c.59T= (p.Ile20=) | |
| X | g.71223767del | CA2579640065 | GJB1 | c.60del (p.Ile20MetfsTer?) | |
| X | g.71223766_71223768delinsATA | CA2695234557 | GJB1 | c.59_61delinsATA (p.Ile20_Gly21delinsAsnSer) | |
| X | g.71223767T>A | CA516821025 | GJB1 | c.60T>A (p.Ile20=) | |
| X | g.71223767T>C | CA516821024 | GJB1 | c.60T>C (p.Ile20=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.71223767T>G | CA413500682 | GJB1 | c.60T>G (p.Ile20Met) | |
| X | g.71223767T= | CA2436388118 | GJB1 | c.60T= (p.Ile20=) | |
| X | g.71223767_71223768delinsTG | CA2436388117 | GJB1 | c.60_61delinsTG (p.Ile20=) | |
| X | g.71223768G>A | CA413500684 | GJB1 | c.61G>A (p.Gly21Ser) | ClinVar dbSNP |
| X | g.71223768G>C | CA413500686 | GJB1 | c.61G>C (p.Gly21Arg) | |
| X | g.71223768G= | CA2436388119 | GJB1 | c.61G= (p.Gly21=) | |
| X | g.71223768G>T | CA413500687 | GJB1 | c.61G>T (p.Gly21Cys) | |
| X | g.71223769del | CA915951172 | GJB1 | c.62del (p.Gly21AlafsTer?) | ClinVar dbSNP |
| X | g.71223769G>A | CA413500689 | GJB1 | c.62G>A (p.Gly21Asp) | ClinVar dbSNP |
| X | g.71223769G>C | CA413500691 | GJB1 | c.62G>C (p.Gly21Ala) | |
| X | g.71223769G= | CA2436388120 | GJB1 | c.62G= (p.Gly21=) | |
| X | g.71223769G>T | CA413500693 | GJB1 | c.62G>T (p.Gly21Val) | ClinVar dbSNP |
| X | g.71223770C>A | CA516821033 | GJB1 | c.63C>A (p.Gly21=) | |
| X | g.71223770C>G | CA516821035 | GJB1 | c.63C>G (p.Gly21=) | |
| X | g.71223770C>T | CA516821037 | GJB1 | c.63C>T (p.Gly21=) | gnomAD v4 |
| X | g.71223771C>A | CA516821038 | GJB1 | c.64C>A (p.Arg22=) | |
| X | g.71223771C= | CA2436388121 | GJB1 | c.64C= (p.Arg22=) | |
| X | g.71223771C>G | CA413500694 | GJB1 | c.64C>G (p.Arg22Gly) | ClinVar dbSNP |
| X | g.71223771C>T | CA413500696 | GJB1 | c.64C>T (p.Arg22Ter) | ClinVar dbSNP |
| X | g.71223772G>A | CA16616533 | GJB1 | c.65G>A (p.Arg22Gln) | ClinVar dbSNP gnomAD v4 |
| X | g.71223772G>C | CA413500702 | GJB1 | c.65G>C (p.Arg22Pro) | ClinVar dbSNP |
| X | g.71223772G= | CA2436388122 | GJB1 | c.65G= (p.Arg22=) | |
| X | g.71223772G>T | CA413500700 | GJB1 | c.65G>T (p.Arg22Leu) | |
| X | g.71223773A>C | CA516821044 | GJB1 | c.66A>C (p.Arg22=) | |
| X | g.71223773A>G | CA516821046 | GJB1 | c.66A>G (p.Arg22=) | |
| X | g.71223773A>T | CA516821045 | GJB1 | c.66A>T (p.Arg22=) | |
| X | g.71223774G>A | CA413500705 | GJB1 | c.67G>A (p.Val23Ile) | |
| X | g.71223774G>C | CA413500715 | GJB1 | c.67G>C (p.Val23Leu) | |
| X | g.71223774G>T | CA413500718 | GJB1 | c.67G>T (p.Val23Leu) | |
| X | g.71223775T>A | CA413500723 | GJB1 | c.68T>A (p.Val23Glu) | ClinVar dbSNP |
| X | g.71223775T>C | CA413500724 | GJB1 | c.68T>C (p.Val23Ala) | ClinVar dbSNP |
| X | g.71223775T>G | CA413500725 | GJB1 | c.68T>G (p.Val23Gly) | |
| X | g.71223775T= | CA2436388123 | GJB1 | c.68T= (p.Val23=) | |
| X | g.71223776A= | CA2436388124 | GJB1 | c.69A= (p.Val23=) | |
| X | g.71223776A>C | CA516821054 | GJB1 | c.69A>C (p.Val23=) | |
| X | g.71223776A>G | CA10445276 | GJB1 | c.69A>G (p.Val23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71223776A>T | CA516821059 | GJB1 | c.69A>T (p.Val23=) | |
| X | g.71223777T>A | CA413500732 | GJB1 | c.70T>A (p.Trp24Arg) | |
| X | g.71223777T>C | CA413500734 | GJB1 | c.70T>C (p.Trp24Arg) | ClinVar dbSNP |
| X | g.71223777T>G | CA413500742 | GJB1 | c.70T>G (p.Trp24Gly) | |
| X | g.71223777T= | CA2436388125 | GJB1 | c.70T= (p.Trp24=) | |
| X | g.71223778G>A | CA413500748 | GJB1 | c.71G>A (p.Trp24Ter) | |
| X | g.71223778G>C | CA413500751 | GJB1 | c.71G>C (p.Trp24Ser) | |
| X | g.71223778G>T | CA413500745 | GJB1 | c.71G>T (p.Trp24Leu) | |
| X | g.71223779G>A | CA413500759 | GJB1 | c.72G>A (p.Trp24Ter) | |
| X | g.71223779G>C | CA413500761 | GJB1 | c.72G>C (p.Trp24Cys) | ClinVar dbSNP |
| X | g.71223779G= | CA2436388126 | GJB1 | c.72G= (p.Trp24=) | |
| X | g.71223779G>T | CA413500765 | GJB1 | c.72G>T (p.Trp24Cys) | ClinVar dbSNP |
| X | g.71223780C>A | CA413500770 | GJB1 | c.73C>A (p.Leu25Ile) | |
| X | g.71223780C= | CA2436388127 | GJB1 | c.73C= (p.Leu25=) | |
| X | g.71223780C>G | CA413500772 | GJB1 | c.73C>G (p.Leu25Val) | |
| X | g.71223780C>T | CA413500774 | GJB1 | c.73C>T (p.Leu25Phe) | ClinVar dbSNP |
| X | g.71223781T>A | CA413500780 | GJB1 | c.74T>A (p.Leu25His) | |
| X | g.71223781T>C | CA413500781 | GJB1 | c.74T>C (p.Leu25Pro) | ClinVar dbSNP |
| X | g.71223781T>G | CA413500784 | GJB1 | c.74T>G (p.Leu25Arg) | |
| X | g.71223781T= | CA2436388128 | GJB1 | c.74T= (p.Leu25=) | |
| X | g.71223782C>A | CA516821065 | GJB1 | c.75C>A (p.Leu25=) | |
| X | g.71223782C= | CA2436388129 | GJB1 | c.75C= (p.Leu25=) | |
| X | g.71223782C>G | CA516821068 | GJB1 | c.75C>G (p.Leu25=) | ClinVar dbSNP |
| X | g.71223782C>T | CA516821069 | GJB1 | c.75C>T (p.Leu25=) | COSMIC |
| X | g.71223783T>A | CA413500789 | GJB1 | c.76T>A (p.Ser26Thr) | |
| X | g.71223783T>C | CA413500791 | GJB1 | c.76T>C (p.Ser26Pro) | |
| X | g.71223783T>G | CA413500795 | GJB1 | c.76T>G (p.Ser26Ala) | |
| X | g.71223783_71223784delinsTC | CA2436388130 | GJB1 | c.76_77delinsTC (p.Ser26=) | |
| X | g.71223784del | CA915951173 | GJB1 | c.77del (p.Ser26TrpfsTer?) | ClinVar dbSNP |
| X | g.71223784C>A | CA413500798 | GJB1 | c.77C>A (p.Ser26Ter) | ClinVar dbSNP |
| X | g.71223784C= | CA2436388131 | GJB1 | c.77C= (p.Ser26=) | |
| X | g.71223784C>G | CA413500799 | GJB1 | c.77C>G (p.Ser26Trp) | ClinVar dbSNP |
| X | g.71223784C>T | CA270646 | GJB1 | c.77C>T (p.Ser26Leu) | ClinVar dbSNP |
| X | g.71223785G>A | CA10445277 | GJB1 | c.78G>A (p.Ser26=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71223785G>C | CA516821075 | GJB1 | c.78G>C (p.Ser26=) | |
| X | g.71223785G= | CA2436388132 | GJB1 | c.78G= (p.Ser26=) | |
| X | g.71223785G>T | CA516821078 | GJB1 | c.78G>T (p.Ser26=) | |
| X | g.71223786G>A | CA413500803 | GJB1 | c.79G>A (p.Val27Ile) | |
| X | g.71223786G>C | CA413500804 | GJB1 | c.79G>C (p.Val27Leu) | |
| X | g.71223786G>T | CA413500806 | GJB1 | c.79G>T (p.Val27Phe) | |
| X | g.71223787T>A | CA413500811 | GJB1 | c.80T>A (p.Val27Asp) | COSMIC |
| X | g.71223787T>C | CA413500812 | GJB1 | c.80T>C (p.Val27Ala) | ClinVar dbSNP |
| X | g.71223787T>G | CA413500814 | GJB1 | c.80T>G (p.Val27Gly) | |
| X | g.71223787T= | CA2436388133 | GJB1 | c.80T= (p.Val27=) | |
| X | g.71223787_71223788insTCATCT | CA645608760 | GJB1 | c.80_81insTCATCT (p.Val27_Ile28insHisLeu) | COSMIC |
| X | g.71223796_71223801dup | CA2695234558 | GJB1 | c.89_94dup (p.Phe31_Arg32insIlePhe) | |
| X | g.71223788C>A | CA516821088 | GJB1 | c.81C>A (p.Val27=) | |
| X | g.71223788C= | CA2436388134 | GJB1 | c.81C= (p.Val27=) | |
| X | g.71223788C>G | CA516821086 | GJB1 | c.81C>G (p.Val27=) | |
| X | g.71223788C>T | CA516821087 | GJB1 | c.81C>T (p.Val27=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223789A>C | CA413500818 | GJB1 | c.82A>C (p.Ile28Leu) | |
| X | g.71223789A>G | CA413500822 | GJB1 | c.82A>G (p.Ile28Val) | |
| X | g.71223789A>T | CA413500820 | GJB1 | c.82A>T (p.Ile28Phe) | |
| X | g.71223790T>A | CA337772 | GJB1 | c.83T>A (p.Ile28Asn) | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.71223790T>C | CA10584633 | GJB1 | c.83T>C (p.Ile28Thr) | ClinVar dbSNP |
| X | g.71223790T>G | CA413500825 | GJB1 | c.83T>G (p.Ile28Ser) | |
| X | g.71223790T= | CA2436388136 | GJB1 | c.83T= (p.Ile28=) | |
| X | g.71223790_71223791delinsTC | CA2436388135 | GJB1 | c.83_84delinsTC (p.Ile28=) | |
| X | g.71223791del | CA915951174 | GJB1 | c.84del (p.Phe29SerfsTer?) | ClinVar dbSNP |
| X | g.71223791C>A | CA516821093 | GJB1 | c.84C>A (p.Ile28=) | |
| X | g.71223791C>G | CA413500828 | GJB1 | c.84C>G (p.Ile28Met) | |
| X | g.71223791C>T | CA516821094 | GJB1 | c.84C>T (p.Ile28=) | |
| X | g.71223792T>A | CA413500840 | GJB1 | c.85T>A (p.Phe29Ile) | |
| X | g.71223792T>C | CA413500833 | GJB1 | c.85T>C (p.Phe29Leu) | ClinVar dbSNP |
| X | g.71223792T>G | CA413500831 | GJB1 | c.85T>G (p.Phe29Val) | |
| X | g.71223792T= | CA2436388137 | GJB1 | c.85T= (p.Phe29=) | |
| X | g.71223793T>A | CA413500843 | GJB1 | c.86T>A (p.Phe29Tyr) | |
| X | g.71223793T>C | CA413500846 | GJB1 | c.86T>C (p.Phe29Ser) | |
| X | g.71223793T>G | CA413500845 | GJB1 | c.86T>G (p.Phe29Cys) | |
| X | g.71223794C>A | CA413500848 | GJB1 | c.87C>A (p.Phe29Leu) | |
| X | g.71223794C>G | CA413500852 | GJB1 | c.87C>G (p.Phe29Leu) | |
| X | g.71223794C>T | CA516821103 | GJB1 | c.87C>T (p.Phe29=) | |
| X | g.71223795A>C | CA413500855 | GJB1 | c.88A>C (p.Ile30Leu) | gnomAD v4 |
| X | g.71223795A>G | CA413500856 | GJB1 | c.88A>G (p.Ile30Val) | |
| X | g.71223795A>T | CA413500857 | GJB1 | c.88A>T (p.Ile30Phe) | ClinVar |
| X | g.71223796T>A | CA255242 | GJB1 | c.89T>A (p.Ile30Asn) | ClinVar dbSNP |
| X | g.71223796T>C | CA413500858 | GJB1 | c.89T>C (p.Ile30Thr) | ClinVar dbSNP |
| X | g.71223796T>G | CA413500859 | GJB1 | c.89T>G (p.Ile30Ser) | |
| X | g.71223796T= | CA2436388138 | GJB1 | c.89T= (p.Ile30=) | |
| X | g.71223797C>A | CA516821109 | GJB1 | c.90C>A (p.Ile30=) | |
| X | g.71223797C>G | CA413500861 | GJB1 | c.90C>G (p.Ile30Met) | ClinVar |
| X | g.71223797C>T | CA516821111 | GJB1 | c.90C>T (p.Ile30=) | |
| X | g.71223798T>A | CA413500866 | GJB1 | c.91T>A (p.Phe31Ile) | |
| X | g.71223798T>C | CA413500869 | GJB1 | c.91T>C (p.Phe31Leu) | ClinVar dbSNP |
| X | g.71223798T>G | CA413500871 | GJB1 | c.91T>G (p.Phe31Val) | |
| X | g.71223798T= | CA2436388139 | GJB1 | c.91T= (p.Phe31=) | |
| X | g.71223799T>A | CA413500876 | GJB1 | c.92T>A (p.Phe31Tyr) | |
| X | g.71223799T>C | CA413500875 | GJB1 | c.92T>C (p.Phe31Ser) | |
| X | g.71223799T>G | CA413500874 | GJB1 | c.92T>G (p.Phe31Cys) | ClinVar dbSNP |
| X | g.71223800C>A | CA413500877 | GJB1 | c.93C>A (p.Phe31Leu) | |
| X | g.71223800C= | CA2436388140 | GJB1 | c.93C= (p.Phe31=) | |
| X | g.71223800C>G | CA413500878 | GJB1 | c.93C>G (p.Phe31Leu) | |
| X | g.71223800C>T | CA516821118 | GJB1 | c.93C>T (p.Phe31=) | ClinVar dbSNP |
| X | g.71223801A= | CA2436388141 | GJB1 | c.94A= (p.Arg32=) | |
| X | g.71223801A>C | CA516821119 | GJB1 | c.94A>C (p.Arg32=) | |
| X | g.71223801A>G | CA413500880 | GJB1 | c.94A>G (p.Arg32Gly) | ClinVar dbSNP |
| X | g.71223801A>T | CA413500882 | GJB1 | c.94A>T (p.Arg32Ter) | |
| X | g.71223802G>A | CA413500892 | GJB1 | c.95G>A (p.Arg32Lys) | ClinVar |
| X | g.71223802G>C | CA413500894 | GJB1 | c.95G>C (p.Arg32Thr) | |
| X | g.71223802G>T | CA413500896 | GJB1 | c.95G>T (p.Arg32Ile) | |
| X | g.71223803A>C | CA413500899 | GJB1 | c.96A>C (p.Arg32Ser) | |
| X | g.71223803A>G | CA516821123 | GJB1 | c.96A>G (p.Arg32=) | gnomAD v4 |
| X | g.71223803A>T | CA413500901 | GJB1 | c.96A>T (p.Arg32Ser) | |
| X | g.71223804A>C | CA413500904 | GJB1 | c.97A>C (p.Ile33Leu) | |
| X | g.71223804A>G | CA413500907 | GJB1 | c.97A>G (p.Ile33Val) | |
| X | g.71223804A>T | CA413500913 | GJB1 | c.97A>T (p.Ile33Phe) | |
| X | g.71223805T>A | CA413500920 | GJB1 | c.98T>A (p.Ile33Asn) | ClinVar dbSNP |
| X | g.71223805T>C | CA413500918 | GJB1 | c.98T>C (p.Ile33Thr) | |
| X | g.71223805T>G | CA413500916 | GJB1 | c.98T>G (p.Ile33Ser) | |
| X | g.71223805T= | CA2436388142 | GJB1 | c.98T= (p.Ile33=) | |
| X | g.71223806C>A | CA516821125 | GJB1 | c.99C>A (p.Ile33=) | |
| X | g.71223806C= | CA2436388143 | GJB1 | c.99C= (p.Ile33=) | |
| X | g.71223806C>G | CA413500922 | GJB1 | c.99C>G (p.Ile33Met) | |
| X | g.71223806C>T | CA516821126 | GJB1 | c.99C>T (p.Ile33=) | ClinVar dbSNP |
| X | g.71223806_71223810dup | CA915951175 | GJB1 | c.99_103dup (p.Val35AlafsTer?) | ClinVar dbSNP |
| X | g.71223807A= | CA2436388144 | GJB1 | c.100A= (p.Met34=) | |
| X | g.71223807A>C | CA413500924 | GJB1 | c.100A>C (p.Met34Leu) | |
| X | g.71223807A>G | CA413500925 | GJB1 | c.100A>G (p.Met34Val) | ClinVar dbSNP |
| X | g.71223807A>T | CA413500926 | GJB1 | c.100A>T (p.Met34Leu) | |
| X | g.71223808T>A | CA413500927 | GJB1 | c.101T>A (p.Met34Lys) | ClinVar dbSNP |
| X | g.71223808T>C | CA16616534 | GJB1 | c.101T>C (p.Met34Thr) | ClinVar dbSNP |
| X | g.71223808T>G | CA413500929 | GJB1 | c.101T>G (p.Met34Arg) | |
| X | g.71223808T= | CA2436388145 | GJB1 | c.101T= (p.Met34=) | |
| X | g.71223809G>A | CA16616704 | GJB1 | c.102G>A (p.Met34Ile) | ClinVar dbSNP |
| X | g.71223809G>C | CA413500932 | GJB1 | c.102G>C (p.Met34Ile) | |
| X | g.71223809G= | CA2436388146 | GJB1 | c.102G= (p.Met34=) | |
| X | g.71223809G>T | CA413500934 | GJB1 | c.102G>T (p.Met34Ile) | |
| X | g.71223810G>A | CA413500937 | GJB1 | c.103G>A (p.Val35Met) | ClinVar dbSNP |
| X | g.71223810G>C | CA413500938 | GJB1 | c.103G>C (p.Val35Leu) | |
| X | g.71223810G= | CA2436388147 | GJB1 | c.103G= (p.Val35=) | |
| X | g.71223810G>T | CA413500939 | GJB1 | c.103G>T (p.Val35Leu) | |
| X | g.71223811T>A | CA413500943 | GJB1 | c.104T>A (p.Val35Glu) | |
| X | g.71223811T>C | CA413500940 | GJB1 | c.104T>C (p.Val35Ala) | |
| X | g.71223811T>G | CA413500941 | GJB1 | c.104T>G (p.Val35Gly) | |
| X | g.71223812G>A | CA516821134 | GJB1 | c.105G>A (p.Val35=) | gnomAD v4 |
| X | g.71223812G>C | CA516821135 | GJB1 | c.105G>C (p.Val35=) | |
| X | g.71223812G>T | CA516821137 | GJB1 | c.105G>T (p.Val35=) | |
| X | g.71223813C>A | CA413500945 | GJB1 | c.106C>A (p.Leu36Met) | |
| X | g.71223813C= | CA2436388148 | GJB1 | c.106C= (p.Leu36=) | |
| X | g.71223813C>G | CA413500946 | GJB1 | c.106C>G (p.Leu36Val) | ClinVar dbSNP |
| X | g.71223813C>T | CA516821141 | GJB1 | c.106C>T (p.Leu36=) | COSMIC |
| X | g.71223814T>A | CA413500948 | GJB1 | c.107T>A (p.Leu36Gln) | |
| X | g.71223814T>C | CA413500951 | GJB1 | c.107T>C (p.Leu36Pro) | ClinVar dbSNP |
| X | g.71223814T>G | CA413500952 | GJB1 | c.107T>G (p.Leu36Arg) | |
| X | g.71223814T= | CA2436388149 | GJB1 | c.107T= (p.Leu36=) | |
| X | g.71223815G>A | CA516821144 | GJB1 | c.108G>A (p.Leu36=) | |
| X | g.71223815G>C | CA10445278 | GJB1 | c.108G>C (p.Leu36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223815G= | CA2436388150 | GJB1 | c.108G= (p.Leu36=) | |
| X | g.71223815G>T | CA516821145 | GJB1 | c.108G>T (p.Leu36=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71223816G>A | CA413500955 | GJB1 | c.109G>A (p.Val37Met) | ClinVar dbSNP |
| X | g.71223816G>C | CA413500957 | GJB1 | c.109G>C (p.Val37Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.71223816G= | CA2436388151 | GJB1 | c.109G= (p.Val37=) | |
| X | g.71223816G>T | CA16043599 | GJB1 | c.109G>T (p.Val37Leu) | ClinVar dbSNP |
| X | g.71223816_71223817delinsGT | CA2436388152 | GJB1 | c.109_110delinsGT (p.Val37=) | |
| X | g.71223817del | CA915951176 | GJB1 | c.110del (p.Val37GlyfsTer?) | ClinVar dbSNP |
| X | g.71223817T>A | CA413500959 | GJB1 | c.110T>A (p.Val37Glu) | ClinVar |
| X | g.71223817T>C | CA413500961 | GJB1 | c.110T>C (p.Val37Ala) | |
| X | g.71223817T>G | CA413500963 | GJB1 | c.110T>G (p.Val37Gly) | |
| X | g.71223817T= | CA2436388153 | GJB1 | c.110T= (p.Val37=) | |
| X | g.71223818G>A | CA516821151 | GJB1 | c.111G>A (p.Val37=) | dbSNP |
| X | g.71223818G>C | CA516821152 | GJB1 | c.111G>C (p.Val37=) | |
| X | g.71223818G= | CA2436388154 | GJB1 | c.111G= (p.Val37=) | |
| X | g.71223818G>T | CA516821154 | GJB1 | c.111G>T (p.Val37=) | |
| X | g.71223818_71223819dup | CA1139667644 | GJB1 | c.111_112dup (p.Val38GlyfsTer?) | ClinVar dbSNP |
| X | g.71223819G>A | CA10584634 | GJB1 | c.112G>A (p.Val38Met) | ClinVar dbSNP |
| X | g.71223819G>C | CA413500966 | GJB1 | c.112G>C (p.Val38Leu) | |
| X | g.71223819G= | CA2436388155 | GJB1 | c.112G= (p.Val38=) | |
| X | g.71223819G>T | CA413500964 | GJB1 | c.112G>T (p.Val38Leu) | |
| X | g.71223820T>A | CA413500968 | GJB1 | c.113T>A (p.Val38Glu) | |
| X | g.71223820T>C | CA413500975 | GJB1 | c.113T>C (p.Val38Ala) | ClinVar dbSNP |
| X | g.71223820T>G | CA338636 | GJB1 | c.113T>G (p.Val38Gly) | ClinVar dbSNP |
| X | g.71223820T= | CA2436388156 | GJB1 | c.113T= (p.Val38=) | |
| X | g.71223820_71223821delinsTG | CA2436388157 | GJB1 | c.113_114delinsTG (p.Val38=) | |
| X | g.71223821G>A | CA516821157 | GJB1 | c.114G>A (p.Val38=) | |
| X | g.71223821G>C | CA516821158 | GJB1 | c.114G>C (p.Val38=) | |
| X | g.71223821G= | CA2436388158 | GJB1 | c.114G= (p.Val38=) | |
| X | g.71223821G>T | CA516821160 | GJB1 | c.114G>T (p.Val38=) | |
| X | g.71223822del | CA915951177 | GJB1 | c.115del (p.Ala39LeufsTer?) | ClinVar dbSNP |
| X | g.71223821_71223822insC | CA915951178 | GJB1 | c.114_115insC (p.Ala39ArgfsTer8) | ClinVar dbSNP |
| X | g.71223822G>A | CA413500977 | GJB1 | c.115G>A (p.Ala39Thr) | ClinVar gnomAD v4 |
| X | g.71223822G>C | CA413500982 | GJB1 | c.115G>C (p.Ala39Pro) | ClinVar dbSNP |
| X | g.71223822G= | CA2436388159 | GJB1 | c.115G= (p.Ala39=) | |
| X | g.71223822G>T | CA413500980 | GJB1 | c.115G>T (p.Ala39Ser) | |
| X | g.71223822_71223823delinsGC | CA2436388160 | GJB1 | c.115_116delinsGC (p.Ala39=) | |
| X | g.71223823del | CA915951179 | GJB1 | c.116del (p.Ala39ValfsTer?) | ClinVar dbSNP |
| X | g.71223823C>A | CA413500984 | GJB1 | c.116C>A (p.Ala39Asp) | |
| X | g.71223823C= | CA2436388161 | GJB1 | c.116C= (p.Ala39=) | |
| X | g.71223823C>G | CA413500987 | GJB1 | c.116C>G (p.Ala39Gly) | ClinVar dbSNP |
| X | g.71223823C>T | CA334139 | GJB1 | c.116C>T (p.Ala39Val) | ClinVar dbSNP gnomAD v4 |
| X | g.71223824T>A | CA516821166 | GJB1 | c.117T>A (p.Ala39=) | |
| X | g.71223824T>C | CA516821167 | GJB1 | c.117T>C (p.Ala39=) | |
| X | g.71223824T>G | CA516821168 | GJB1 | c.117T>G (p.Ala39=) | |
| X | g.71223825G>A | CA413500989 | GJB1 | c.118G>A (p.Ala40Thr) | ClinVar dbSNP |
| X | g.71223825G>C | CA413500991 | GJB1 | c.118G>C (p.Ala40Pro) | |
| X | g.71223825G= | CA2436388162 | GJB1 | c.118G= (p.Ala40=) | |
| X | g.71223825G>T | CA413500990 | GJB1 | c.118G>T (p.Ala40Ser) | ClinVar dbSNP |
| X | g.71223826C>A | CA413500992 | GJB1 | c.119C>A (p.Ala40Glu) | |
| X | g.71223826C= | CA2436388163 | GJB1 | c.119C= (p.Ala40=) | |
| X | g.71223826C>G | CA413500996 | GJB1 | c.119C>G (p.Ala40Gly) | |
| X | g.71223826C>T | CA413500994 | GJB1 | c.119C>T (p.Ala40Val) | ClinVar dbSNP |
| X | g.71223826_71223828delinsCAG | CA2436388164 | GJB1 | c.119_121delinsCAG (p.Ala40=) | |
| X | g.71223827A= | CA2436388165 | GJB1 | c.120A= (p.Ala40=) | |
| X | g.71223827A>C | CA516821174 | GJB1 | c.120A>C (p.Ala40=) | |
| X | g.71223827A>G | CA516821176 | GJB1 | c.120A>G (p.Ala40=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223827A>T | CA516821175 | GJB1 | c.120A>T (p.Ala40=) | |
| X | g.71223831_71223832del | CA915951180 | GJB1 | c.124_125del (p.Ser42CysfsTer4) | ClinVar dbSNP |
| X | g.71223827_71223828insCCACCAGCT | CA891844218 | GJB1 | c.120_121insCCACCAGCT (p.Ala40_Glu41insProProAla) | ClinVar dbSNP |
| X | g.71223828G>A | CA413500999 | GJB1 | c.121G>A (p.Glu41Lys) | ClinVar dbSNP |
| X | g.71223828G>C | CA413501001 | GJB1 | c.121G>C (p.Glu41Gln) | |
| X | g.71223828G= | CA2436388166 | GJB1 | c.121G= (p.Glu41=) | |
| X | g.71223828G>T | CA413501003 | GJB1 | c.121G>T (p.Glu41Ter) | COSMIC |
| X | g.71223829A>C | CA413501005 | GJB1 | c.122A>C (p.Glu41Ala) | |
| X | g.71223829A>G | CA413501007 | GJB1 | c.122A>G (p.Glu41Gly) | |
| X | g.71223829A>T | CA413501008 | GJB1 | c.122A>T (p.Glu41Val) | |
| X | g.71223830G>A | CA516821181 | GJB1 | c.123G>A (p.Glu41=) | |
| X | g.71223830G>C | CA341591 | GJB1 | c.123G>C (p.Glu41Asp) | ClinVar dbSNP |
| X | g.71223830G= | CA2436388167 | GJB1 | c.123G= (p.Glu41=) | |
| X | g.71223830G>T | CA413501011 | GJB1 | c.123G>T (p.Glu41Asp) | COSMIC |
| X | g.71223831del | CA2695234559 | GJB1 | c.124del (p.Ser42ValfsTer?) | |
| X | g.71223831A= | CA2436388168 | GJB1 | c.124A= (p.Ser42=) | |
| X | g.71223831A>C | CA413501013 | GJB1 | c.124A>C (p.Ser42Arg) | |
| X | g.71223831A>G | CA413501014 | GJB1 | c.124A>G (p.Ser42Gly) | ClinVar |
| X | g.71223831A>T | CA413501016 | GJB1 | c.124A>T (p.Ser42Cys) | ClinVar dbSNP |
| X | g.71223832G>A | CA413501021 | GJB1 | c.125G>A (p.Ser42Asn) | |
| X | g.71223832G>C | CA413501018 | GJB1 | c.125G>C (p.Ser42Thr) | |
| X | g.71223832G>T | CA413501019 | GJB1 | c.125G>T (p.Ser42Ile) | |
| X | g.71223833T>A | CA413501022 | GJB1 | c.126T>A (p.Ser42Arg) | |
| X | g.71223833T>C | CA516821183 | GJB1 | c.126T>C (p.Ser42=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223833T>G | CA413501024 | GJB1 | c.126T>G (p.Ser42Arg) | |
| X | g.71223833T= | CA2436388169 | GJB1 | c.126T= (p.Ser42=) | |
| X | g.71223834G>A | CA413501026 | GJB1 | c.127G>A (p.Val43Met) | ClinVar dbSNP |
| X | g.71223834G>C | CA413501027 | GJB1 | c.127G>C (p.Val43Leu) | ClinVar dbSNP |
| X | g.71223834G= | CA2436388170 | GJB1 | c.127G= (p.Val43=) | |
| X | g.71223834G>T | CA413501028 | GJB1 | c.127G>T (p.Val43Leu) | |
| X | g.71223835T>A | CA413501030 | GJB1 | c.128T>A (p.Val43Glu) | ClinVar dbSNP |
| X | g.71223835T>C | CA413501032 | GJB1 | c.128T>C (p.Val43Ala) | |
| X | g.71223835T>G | CA413501033 | GJB1 | c.128T>G (p.Val43Gly) | |
| X | g.71223835T= | CA2436388171 | GJB1 | c.128T= (p.Val43=) | |
| X | g.71223836G>A | CA516821187 | GJB1 | c.129G>A (p.Val43=) | ClinVar dbSNP |
| X | g.71223836G>C | CA516821188 | GJB1 | c.129G>C (p.Val43=) | |
| X | g.71223836G>T | CA516821190 | GJB1 | c.129G>T (p.Val43=) | |
| X | g.71223837T>A | CA413501040 | GJB1 | c.130T>A (p.Trp44Arg) | |
| X | g.71223837T>C | CA413501042 | GJB1 | c.130T>C (p.Trp44Arg) | |
| X | g.71223837T>G | CA413501044 | GJB1 | c.130T>G (p.Trp44Gly) | |
| X | g.71223838G>A | CA10581119 | GJB1 | c.131G>A (p.Trp44Ter) | ClinVar dbSNP |
| X | g.71223838G>C | CA413501049 | GJB1 | c.131G>C (p.Trp44Ser) | |
| X | g.71223838G= | CA2436388172 | GJB1 | c.131G= (p.Trp44=) | |
| X | g.71223838G>T | CA413501047 | GJB1 | c.131G>T (p.Trp44Leu) | ClinVar dbSNP |
| X | g.71223841dup | CA2697553165 | GJB1 | c.134dup (p.Asp46Ter) | ClinVar |
| X | g.71223841del | CA2695234560 | GJB1 | c.134del (p.Gly45ValfsTer?) | |
| X | g.71223839G>A | CA413501057 | GJB1 | c.132G>A (p.Trp44Ter) | ClinVar dbSNP COSMIC |
| X | g.71223839G>C | CA10584635 | GJB1 | c.132G>C (p.Trp44Cys) | ClinVar dbSNP |
| X | g.71223839G= | CA2436388173 | GJB1 | c.132G= (p.Trp44=) | |
| X | g.71223839G>T | CA413501055 | GJB1 | c.132G>T (p.Trp44Cys) | COSMIC |
| X | g.71223840G>A | CA413501060 | GJB1 | c.133G>A (p.Gly45Ser) | gnomAD v4 |
| X | g.71223840G>C | CA413501062 | GJB1 | c.133G>C (p.Gly45Arg) | ClinVar |
| X | g.71223840G>T | CA413501064 | GJB1 | c.133G>T (p.Gly45Cys) | |
| X | g.71223841G>A | CA413501066 | GJB1 | c.134G>A (p.Gly45Asp) | gnomAD v4 |
| X | g.71223841G>C | CA413501067 | GJB1 | c.134G>C (p.Gly45Ala) | |
| X | g.71223841G>T | CA413501069 | GJB1 | c.134G>T (p.Gly45Val) | |
| X | g.71223842T>A | CA516821195 | GJB1 | c.135T>A (p.Gly45=) | |
| X | g.71223842T>C | CA516821197 | GJB1 | c.135T>C (p.Gly45=) | dbSNP gnomAD v3 |
| X | g.71223842T>G | CA516821199 | GJB1 | c.135T>G (p.Gly45=) | ClinVar dbSNP |
| X | g.71223842T= | CA2436388174 | GJB1 | c.135T= (p.Gly45=) | |
| X | g.71223843G>A | CA413501073 | GJB1 | c.136G>A (p.Asp46Asn) | ClinVar |
| X | g.71223843G>C | CA413501075 | GJB1 | c.136G>C (p.Asp46His) | |
| X | g.71223843G>T | CA413501077 | GJB1 | c.136G>T (p.Asp46Tyr) | |
| X | g.71223844A= | CA2436388175 | GJB1 | c.137A= (p.Asp46=) | |
| X | g.71223844A>C | CA413501084 | GJB1 | c.137A>C (p.Asp46Ala) | |
| X | g.71223844A>G | CA413501083 | GJB1 | c.137A>G (p.Asp46Gly) | ClinVar dbSNP |
| X | g.71223844A>T | CA413501081 | GJB1 | c.137A>T (p.Asp46Val) | ClinVar dbSNP |
| X | g.71223845T>A | CA413501085 | GJB1 | c.138T>A (p.Asp46Glu) | |
| X | g.71223845T>C | CA516821202 | GJB1 | c.138T>C (p.Asp46=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223845T>G | CA413501086 | GJB1 | c.138T>G (p.Asp46Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.71223845T= | CA2436388176 | GJB1 | c.138T= (p.Asp46=) | |
| X | g.71223846G>A | CA413501088 | GJB1 | c.139G>A (p.Glu47Lys) | ClinVar dbSNP |
| X | g.71223846G>C | CA413501092 | GJB1 | c.139G>C (p.Glu47Gln) | |
| X | g.71223846G= | CA2436388177 | GJB1 | c.139G= (p.Glu47=) | |
| X | g.71223846G>T | CA413501093 | GJB1 | c.139G>T (p.Glu47Ter) | |
| X | g.71223847A= | CA2436388178 | GJB1 | c.140A= (p.Glu47=) | |
| X | g.71223847A>C | CA413501095 | GJB1 | c.140A>C (p.Glu47Ala) | |
| X | g.71223847A>G | CA413501096 | GJB1 | c.140A>G (p.Glu47Gly) | ClinVar dbSNP |
| X | g.71223847A>T | CA413501098 | GJB1 | c.140A>T (p.Glu47Val) | ClinVar dbSNP |
| X | g.71223848_71223850dup | CA915951181 | GJB1 | c.141_143dup (p.Lys48_Ser49insLys) | ClinVar dbSNP |
| X | g.71223848G>A | CA516821206 | GJB1 | c.141G>A (p.Glu47=) | gnomAD v4 |
| X | g.71223848G>C | CA413501100 | GJB1 | c.141G>C (p.Glu47Asp) | |
| X | g.71223848G>T | CA413501103 | GJB1 | c.141G>T (p.Glu47Asp) | |
| X | g.71223849A>C | CA413501105 | GJB1 | c.142A>C (p.Lys48Gln) | |
| X | g.71223849A>G | CA413501106 | GJB1 | c.142A>G (p.Lys48Glu) | |
| X | g.71223849A>T | CA413501109 | GJB1 | c.142A>T (p.Lys48Ter) | |
| X | g.71223850A>C | CA413501115 | GJB1 | c.143A>C (p.Lys48Thr) | |
| X | g.71223850A>G | CA413501117 | GJB1 | c.143A>G (p.Lys48Arg) | |
| X | g.71223850A>T | CA413501112 | GJB1 | c.143A>T (p.Lys48Ile) | |
| X | g.71223851A= | CA2436388179 | GJB1 | c.144A= (p.Lys48=) | |
| X | g.71223851A>C | CA413501119 | GJB1 | c.144A>C (p.Lys48Asn) | |
| X | g.71223851A>G | CA516821209 | GJB1 | c.144A>G (p.Lys48=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223851A>T | CA413501122 | GJB1 | c.144A>T (p.Lys48Asn) | |
| X | g.71223852T>A | CA413501125 | GJB1 | c.145T>A (p.Ser49Thr) | |
| X | g.71223852T>C | CA341595 | GJB1 | c.145T>C (p.Ser49Pro) | ClinVar dbSNP |
| X | g.71223852T>G | CA413501126 | GJB1 | c.145T>G (p.Ser49Ala) | |
| X | g.71223852T= | CA2436388180 | GJB1 | c.145T= (p.Ser49=) |