Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189476_20189505dup | CA222248 | GJB2 | c.77_106dup (p.Ile35_Leu36insProValLeuPheIlePheArgIleMetIle) | ClinVar dbSNP |
13 | g.20189494del | CA2695217726 | GJB2 | c.88del (p.Ile30PhefsTer5) | |
13 | g.20189494T>A | CA387462020 | GJB2 | c.88A>T (p.Ile30Phe) | ClinVar |
13 | g.20189494T>C | CA6904323 | GJB2 | c.88A>G (p.Ile30Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189494T>G | CA387462022 | GJB2 | c.88A>C (p.Ile30Leu) | |
13 | g.20189494T= | CA2077140434 | GJB2 | c.88A= (p.Ile30=) | |
13 | g.20189494_20189497delinsTGAA | CA2077140436 | GJB2 | c.85_88delinsTTCA (p.Phe29=) | |
13 | g.20189495G>A | CA483153930 | GJB2 | c.87C>T (p.Phe29=) | |
13 | g.20189495G>C | CA387462024 | GJB2 | c.87C>G (p.Phe29Leu) | |
13 | g.20189495G>T | CA387462026 | GJB2 | c.87C>A (p.Phe29Leu) | |
13 | g.20189497_20189499del | CA658653811 | GJB2 | c.85_87del (p.Phe29del) | ClinVar dbSNP |
13 | g.20189496A>C | CA387462031 | GJB2 | c.86T>G (p.Phe29Cys) | |
13 | g.20189496A>G | CA387462030 | GJB2 | c.86T>C (p.Phe29Ser) | |
13 | g.20189496A>T | CA387462029 | GJB2 | c.86T>A (p.Phe29Tyr) | |
13 | g.20189497A>C | CA387462033 | GJB2 | c.85T>G (p.Phe29Val) | |
13 | g.20189497A>G | CA387462034 | GJB2 | c.85T>C (p.Phe29Leu) | |
13 | g.20189497A>T | CA387462036 | GJB2 | c.85T>A (p.Phe29Ile) | |
13 | g.20189498G>A | CA483153931 | GJB2 | c.84C>T (p.Leu28=) | |
13 | g.20189498G>C | CA483153933 | GJB2 | c.84C>G (p.Leu28=) | |
13 | g.20189498G>T | CA483153935 | GJB2 | c.84C>A (p.Leu28=) | |
13 | g.20189500_20189502del | CA2697551668 | GJB2 | c.82_84del (p.Leu28del) | ClinVar |
13 | g.20189499A>C | CA387462037 | GJB2 | c.83T>G (p.Leu28Arg) | |
13 | g.20189499A>G | CA387462038 | GJB2 | c.83T>C (p.Leu28Pro) | |
13 | g.20189499A>T | CA387462039 | GJB2 | c.83T>A (p.Leu28His) | |
13 | g.20189500G>A | CA387462041 | GJB2 | c.82C>T (p.Leu28Phe) | |
13 | g.20189500G>C | CA387462043 | GJB2 | c.82C>G (p.Leu28Val) | ClinVar |
13 | g.20189500G>T | CA387462045 | GJB2 | c.82C>A (p.Leu28Ile) | |
13 | g.20189500_20189503delinsTCT | CA2499221955 | GJB2 | c.79_82delinsAGA (p.Val27ArgfsTer8) | ClinVar dbSNP |
13 | g.20189501G>A | CA483153937 | GJB2 | c.81C>T (p.Val27=) | |
13 | g.20189501G>C | CA483153938 | GJB2 | c.81C>G (p.Val27=) | gnomAD v4 |
13 | g.20189501G>T | CA483153939 | GJB2 | c.81C>A (p.Val27=) | |
13 | g.20189502A>C | CA387462047 | GJB2 | c.80T>G (p.Val27Gly) | |
13 | g.20189502A>G | CA387462048 | GJB2 | c.80T>C (p.Val27Ala) | |
13 | g.20189502A>T | CA387462050 | GJB2 | c.80T>A (p.Val27Asp) | |
13 | g.20189503C>A | CA387462051 | GJB2 | c.79G>T (p.Val27Phe) | |
13 | g.20189503C= | CA2077140448 | GJB2 | c.79G= (p.Val27=) | |
13 | g.20189503C>G | CA387462053 | GJB2 | c.79G>C (p.Val27Leu) | |
13 | g.20189503C>T | CA134997 | GJB2 | c.79G>A (p.Val27Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189504G>A | CA6904324 | GJB2 | c.78C>T (p.Thr26=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189504G>C | CA483153940 | GJB2 | c.78C>G (p.Thr26=) | |
13 | g.20189504G= | CA2077140457 | GJB2 | c.78C= (p.Thr26=) | |
13 | g.20189504G>T | CA483153941 | GJB2 | c.78C>A (p.Thr26=) | |
13 | g.20189505G>A | CA387462056 | GJB2 | c.77C>T (p.Thr26Ile) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189505G>C | CA387462055 | GJB2 | c.77C>G (p.Thr26Ser) | |
13 | g.20189505G= | CA2077140461 | GJB2 | c.77C= (p.Thr26=) | |
13 | g.20189505G>T | CA387462057 | GJB2 | c.77C>A (p.Thr26Asn) | |
13 | g.20189506del | CA2573149179 | GJB2 | c.76del (p.Thr26ProfsTer9) | ClinVar dbSNP |
13 | g.20189506T>A | CA387462059 | GJB2 | c.76A>T (p.Thr26Ser) | |
13 | g.20189506T>C | CA387462061 | GJB2 | c.76A>G (p.Thr26Ala) | dbSNP gnomAD v4 |
13 | g.20189506T>G | CA387462063 | GJB2 | c.76A>C (p.Thr26Pro) | |
13 | g.20189507G>A | CA483154018 | GJB2 | c.75C>T (p.Leu25=) | |
13 | g.20189507G>C | CA483154019 | GJB2 | c.75C>G (p.Leu25=) | |
13 | g.20189507G>T | CA483154020 | GJB2 | c.75C>A (p.Leu25=) | |
13 | g.20189508A>C | CA387462065 | GJB2 | c.74T>G (p.Leu25Arg) | |
13 | g.20189508A>G | CA387462066 | GJB2 | c.74T>C (p.Leu25Pro) | |
13 | g.20189508A>T | CA387462068 | GJB2 | c.74T>A (p.Leu25His) | |
13 | g.20189509G>A | CA387462069 | GJB2 | c.73C>T (p.Leu25Phe) | ClinVar dbSNP |
13 | g.20189509G>C | CA387462070 | GJB2 | c.73C>G (p.Leu25Val) | |
13 | g.20189509G= | CA2077140465 | GJB2 | c.73C= (p.Leu25=) | |
13 | g.20189509G>T | CA387462072 | GJB2 | c.73C>A (p.Leu25Ile) | |
13 | g.20189510C>A | CA387462073 | GJB2 | c.72G>T (p.Trp24Cys) | |
13 | g.20189510C= | CA2077140470 | GJB2 | c.72G= (p.Trp24=) | |
13 | g.20189510C>G | CA6904325 | GJB2 | c.72G>C (p.Trp24Cys) | dbSNP ExAC |
13 | g.20189510C>T | CA387462076 | GJB2 | c.72G>A (p.Trp24Ter) | ClinVar dbSNP |
13 | g.20189511C>A | CA387462081 | GJB2 | c.71G>T (p.Trp24Leu) | |
13 | g.20189511C= | CA2077140478 | GJB2 | c.71G= (p.Trp24=) | |
13 | g.20189511C>G | CA387462079 | GJB2 | c.71G>C (p.Trp24Ser) | gnomAD v4 |
13 | g.20189511C>T | CA172240 | GJB2 | c.71G>A (p.Trp24Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189512A>C | CA387462083 | GJB2 | c.70T>G (p.Trp24Gly) | |
13 | g.20189512A>G | CA387462085 | GJB2 | c.70T>C (p.Trp24Arg) | |
13 | g.20189512A>T | CA387462087 | GJB2 | c.70T>A (p.Trp24Arg) | |
13 | g.20189513G>A | CA483154022 | GJB2 | c.69C>T (p.Ile23=) | ClinVar |
13 | g.20189513G>C | CA387462089 | GJB2 | c.69C>G (p.Ile23Met) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189513G= | CA2077140486 | GJB2 | c.69C= (p.Ile23=) | |
13 | g.20189513G>T | CA483154021 | GJB2 | c.69C>A (p.Ile23=) | |
13 | g.20189513_20189551delinsGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC | CA2077140484 | GJB2 | c.31_69delinsGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATC (p.Gly11=) | |
13 | g.20189514A>C | CA387462091 | GJB2 | c.68T>G (p.Ile23Ser) | |
13 | g.20189514A>G | CA387462092 | GJB2 | c.68T>C (p.Ile23Thr) | |
13 | g.20189514A>T | CA387462093 | GJB2 | c.68T>A (p.Ile23Asn) | |
13 | g.20189514_20189551del | CA261644 | GJB2 | c.31_68del (p.Gly11LeufsTer24) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189515T>A | CA387462096 | GJB2 | c.67A>T (p.Ile23Phe) | |
13 | g.20189515T>C | CA387462098 | GJB2 | c.67A>G (p.Ile23Val) | |
13 | g.20189515T>G | CA387462099 | GJB2 | c.67A>C (p.Ile23Leu) | |
13 | g.20189516C>A | CA10584002 | GJB2 | c.66G>T (p.Lys22Asn) | ClinVar dbSNP |
13 | g.20189516C= | CA2077140498 | GJB2 | c.66G= (p.Lys22=) | |
13 | g.20189516C>G | CA387462101 | GJB2 | c.66G>C (p.Lys22Asn) | |
13 | g.20189516C>T | CA483154023 | GJB2 | c.66G>A (p.Lys22=) | ClinVar dbSNP gnomAD v4 |
13 | g.20189517T>A | CA387462104 | GJB2 | c.65A>T (p.Lys22Met) | |
13 | g.20189517T>C | CA387462105 | GJB2 | c.65A>G (p.Lys22Arg) | |
13 | g.20189517T>G | CA387462107 | GJB2 | c.65A>C (p.Lys22Thr) | |
13 | g.20189519del | CA2575364825 | GJB2 | c.65del (p.Lys22ArgfsTer13) | |
13 | g.20189518T>A | CA387462113 | GJB2 | c.64A>T (p.Lys22Ter) | |
13 | g.20189518T>C | CA387462115 | GJB2 | c.64A>G (p.Lys22Glu) | |
13 | g.20189518T>G | CA387462117 | GJB2 | c.64A>C (p.Lys22Gln) | |
13 | g.20189519T>A | CA483154024 | GJB2 | c.63A>T (p.Gly21=) | |
13 | g.20189519T>C | CA483154026 | GJB2 | c.63A>G (p.Gly21=) | |
13 | g.20189519T>G | CA483154025 | GJB2 | c.63A>C (p.Gly21=) | |
13 | g.20189520_20189530del | CA2499221956 | GJB2 | c.53_63del (p.Thr18LysfsTer26) | ClinVar dbSNP |
13 | g.20189519_20189531delinsTCCAATGCTGGTG | CA2077140504 | GJB2 | c.51_63delinsCACCAGCATTGGA (p.Ser17=) | |
13 | g.20189520C>A | CA387462123 | GJB2 | c.62G>T (p.Gly21Val) | |
13 | g.20189520C= | CA2077140512 | GJB2 | c.62G= (p.Gly21=) | |
13 | g.20189520C>G | CA387462119 | GJB2 | c.62G>C (p.Gly21Ala) | |
13 | g.20189520C>T | CA387462122 | GJB2 | c.62G>A (p.Gly21Glu) | dbSNP COSMIC |
13 | g.20189520_20189523del | CA2622252307 | GJB2 | c.59_62del (p.Ile20LysfsTer14) | gnomAD v4 |
13 | g.20189520_20189531delinsT | CA10575530 | GJB2 | c.51_62delinsA (p.Thr18LysfsTer26) | ClinVar dbSNP |
13 | g.20189521C>A | CA387462125 | GJB2 | c.61G>T (p.Gly21Ter) | |
13 | g.20189521C>G | CA387462127 | GJB2 | c.61G>C (p.Gly21Arg) | |
13 | g.20189521C>T | CA387462128 | GJB2 | c.61G>A (p.Gly21Arg) | dbSNP |
13 | g.20189522A= | CA2077140514 | GJB2 | c.60T= (p.Ile20=) | |
13 | g.20189522A>C | CA6904326 | GJB2 | c.60T>G (p.Ile20Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189522A>G | CA483154027 | GJB2 | c.60T>C (p.Ile20=) | |
13 | g.20189522A>T | CA483154028 | GJB2 | c.60T>A (p.Ile20=) | |
13 | g.20189523A= | CA2077140519 | GJB2 | c.59T= (p.Ile20=) | |
13 | g.20189523A>C | CA387462131 | GJB2 | c.59T>G (p.Ile20Ser) | |
13 | g.20189523A>G | CA16041595 | GJB2 | c.59T>C (p.Ile20Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.20189523A>T | CA387462132 | GJB2 | c.59T>A (p.Ile20Asn) | |
13 | g.20189524T>A | CA387462133 | GJB2 | c.58A>T (p.Ile20Phe) | |
13 | g.20189524T>C | CA387462135 | GJB2 | c.58A>G (p.Ile20Val) | |
13 | g.20189524T>G | CA387462136 | GJB2 | c.58A>C (p.Ile20Leu) | |
13 | g.20189525G>A | CA483154029 | GJB2 | c.57C>T (p.Ser19=) | dbSNP |
13 | g.20189525G>C | CA387462138 | GJB2 | c.57C>G (p.Ser19Arg) | |
13 | g.20189525G= | CA2077140521 | GJB2 | c.57C= (p.Ser19=) | |
13 | g.20189525G>T | CA387462140 | GJB2 | c.57C>A (p.Ser19Arg) | |
13 | g.20189525_20189526delinsAA | CA2825002101 | GJB2 | c.56_57delinsTT (p.Ser19Ile) | ClinVar |
13 | g.20189526_20189532del | CA2622252308 | GJB2 | c.51_57del (p.Thr18LeufsTer15) | gnomAD v4 |
13 | g.20189526C>A | CA6904327 | GJB2 | c.56G>T (p.Ser19Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189526C= | CA2077140524 | GJB2 | c.56G= (p.Ser19=) | |
13 | g.20189526C>G | CA342005 | GJB2 | c.56G>C (p.Ser19Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
13 | g.20189526C>T | CA387462144 | GJB2 | c.56G>A (p.Ser19Asn) | |
13 | g.20189527T>A | CA387462145 | GJB2 | c.55A>T (p.Ser19Cys) | |
13 | g.20189527T>C | CA387462146 | GJB2 | c.55A>G (p.Ser19Gly) | |
13 | g.20189527T>G | CA387462147 | GJB2 | c.55A>C (p.Ser19Arg) | |
13 | g.20189528G>A | CA483154032 | GJB2 | c.54C>T (p.Thr18=) | |
13 | g.20189528G>C | CA483154031 | GJB2 | c.54C>G (p.Thr18=) | gnomAD v4 |
13 | g.20189528G>T | CA483154030 | GJB2 | c.54C>A (p.Thr18=) | |
13 | g.20189529G>A | CA387462151 | GJB2 | c.53C>T (p.Thr18Ile) | |
13 | g.20189529G>C | CA387462150 | GJB2 | c.53C>G (p.Thr18Ser) | ClinVar dbSNP |
13 | g.20189529G= | CA2077140530 | GJB2 | c.53C= (p.Thr18=) | |
13 | g.20189529G>T | CA387462149 | GJB2 | c.53C>A (p.Thr18Asn) | |
13 | g.20189530T>A | CA387462153 | GJB2 | c.52A>T (p.Thr18Ser) | |
13 | g.20189530T>C | CA387462155 | GJB2 | c.52A>G (p.Thr18Ala) | |
13 | g.20189530T>G | CA387462157 | GJB2 | c.52A>C (p.Thr18Pro) | |
13 | g.20189531G>A | CA483154033 | GJB2 | c.51C>T (p.Ser17=) | ClinVar dbSNP |
13 | g.20189531G>C | CA483154034 | GJB2 | c.51C>G (p.Ser17=) | |
13 | g.20189531G= | CA2077140533 | GJB2 | c.51C= (p.Ser17=) | |
13 | g.20189531G>T | CA483154035 | GJB2 | c.51C>A (p.Ser17=) | ClinVar dbSNP |
13 | g.20189531_20189533delinsGGA | CA2077140535 | GJB2 | c.49_51delinsTCC (p.Ser17=) | |
13 | g.20189532_20189534del | CA912980100 | GJB2 | c.49_51del (p.Ser17del) | |
13 | g.20189532G>A | CA127029 | GJB2 | c.50C>T (p.Ser17Phe) | ClinVar dbSNP |
13 | g.20189532G>C | CA185218 | GJB2 | c.50C>G (p.Ser17Cys) | ClinVar dbSNP |
13 | g.20189532G= | CA2077140543 | GJB2 | c.50C= (p.Ser17=) | |
13 | g.20189532G>T | CA387462161 | GJB2 | c.50C>A (p.Ser17Tyr) | |
13 | g.20189533_20189534del | CA658823500 | GJB2 | c.49_50del (p.Ser17HisfsTer30) | ClinVar dbSNP |
13 | g.20189533_20189536del | CA2622252310 | GJB2 | c.47_50del (p.His16ProfsTer18) | gnomAD v4 |
13 | g.20189533A>C | CA387462167 | GJB2 | c.49T>G (p.Ser17Ala) | |
13 | g.20189533A>G | CA387462163 | GJB2 | c.49T>C (p.Ser17Pro) | |
13 | g.20189533A>T | CA387462165 | GJB2 | c.49T>A (p.Ser17Thr) | |
13 | g.20189534G>A | CA483154036 | GJB2 | c.48C>T (p.His16=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189534G>C | CA387462169 | GJB2 | c.48C>G (p.His16Gln) | |
13 | g.20189534G= | CA2077140549 | GJB2 | c.48C= (p.His16=) | |
13 | g.20189534G>T | CA387462170 | GJB2 | c.48C>A (p.His16Gln) | |
13 | g.20189535T>A | CA387462172 | GJB2 | c.47A>T (p.His16Leu) | |
13 | g.20189535T>C | CA387462174 | GJB2 | c.47A>G (p.His16Arg) | |
13 | g.20189535T>G | CA387462175 | GJB2 | c.47A>C (p.His16Pro) | gnomAD v4 |
13 | g.20189536G>A | CA6904328 | GJB2 | c.46C>T (p.His16Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189536G>C | CA387462176 | GJB2 | c.46C>G (p.His16Asp) | |
13 | g.20189536G= | CA2077140554 | GJB2 | c.46C= (p.His16=) | |
13 | g.20189536G>T | CA387462178 | GJB2 | c.46C>A (p.His16Asn) | COSMIC |
13 | g.20189536_20189550delinsGTTTGTTCACACCCC | CA2077140555 | GJB2 | c.32_46delinsGGGGTGTGAACAAAC (p.Gly11=) | |
13 | g.20189537T>A | CA387462181 | GJB2 | c.45A>T (p.Lys15Asn) | |
13 | g.20189537T>C | CA483154037 | GJB2 | c.45A>G (p.Lys15=) | dbSNP |
13 | g.20189537T>G | CA387462182 | GJB2 | c.45A>C (p.Lys15Asn) | |
13 | g.20189537T= | CA2077140561 | GJB2 | c.45A= (p.Lys15=) | |
13 | g.20189537_20189550del | CA608984146 | GJB2 | c.32_45del (p.Gly11AlafsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189538T>A | CA387462185 | GJB2 | c.44A>T (p.Lys15Ile) | |
13 | g.20189538T>C | CA387462187 | GJB2 | c.44A>G (p.Lys15Arg) | |
13 | g.20189538T>G | CA261649 | GJB2 | c.44A>C (p.Lys15Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189538T= | CA2077109877 | GJB2 | c.44A= (p.Lys15=) | |
13 | g.20189538_20189551del | CA2695217727 | GJB2 | c.31_44del (p.Gly11ThrfsTer?) | |
13 | g.20189539T>A | CA387462189 | GJB2 | c.43A>T (p.Lys15Ter) | |
13 | g.20189539T>C | CA387462191 | GJB2 | c.43A>G (p.Lys15Glu) | |
13 | g.20189539T>G | CA387462192 | GJB2 | c.43A>C (p.Lys15Gln) | |
13 | g.20189540G>A | CA483154038 | GJB2 | c.42C>T (p.Asn14=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189540G>C | CA387462194 | GJB2 | c.42C>G (p.Asn14Lys) | |
13 | g.20189540G= | CA2077109907 | GJB2 | c.42C= (p.Asn14=) | |
13 | g.20189540G>T | CA387462196 | GJB2 | c.42C>A (p.Asn14Lys) | |
13 | g.20189541T>A | CA387462198 | GJB2 | c.41A>T (p.Asn14Ile) | |
13 | g.20189541T>C | CA387462199 | GJB2 | c.41A>G (p.Asn14Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189541T>G | CA387462201 | GJB2 | c.41A>C (p.Asn14Thr) | |
13 | g.20189542dup | CA696363988 | GJB2 | c.41dup (p.Asn14LysfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189542T>A | CA387462203 | GJB2 | c.40A>T (p.Asn14Tyr) | |
13 | g.20189542T>C | CA387462206 | GJB2 | c.40A>G (p.Asn14Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189542T>G | CA387462205 | GJB2 | c.40A>C (p.Asn14His) | |
13 | g.20189542T= | CA2077109926 | GJB2 | c.40A= (p.Asn14=) | |
13 | g.20189543C>A | CA483154039 | GJB2 | c.39G>T (p.Val13=) | |
13 | g.20189543C= | CA2077109935 | GJB2 | c.39G= (p.Val13=) | |
13 | g.20189543C>G | CA483154040 | GJB2 | c.39G>C (p.Val13=) | |
13 | g.20189543C>T | CA483154041 | GJB2 | c.39G>A (p.Val13=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189544A= | CA2077109938 | GJB2 | c.38T= (p.Val13=) | |
13 | g.20189544A>C | CA387462207 | GJB2 | c.38T>G (p.Val13Gly) | ClinVar dbSNP |
13 | g.20189544A>G | CA387462209 | GJB2 | c.38T>C (p.Val13Ala) | |
13 | g.20189544A>T | CA387462211 | GJB2 | c.38T>A (p.Val13Glu) | |
13 | g.20189544_20189545delinsAC | CA2077109941 | GJB2 | c.37_38delinsGT (p.Val13=) | |
13 | g.20189545del | CA919221233 | GJB2 | c.37del (p.Val13Ter) | dbSNP |
13 | g.20189545C>A | CA387462213 | GJB2 | c.37G>T (p.Val13Leu) | |
13 | g.20189545C= | CA2077109952 | GJB2 | c.37G= (p.Val13=) | |
13 | g.20189545C>G | CA387462214 | GJB2 | c.37G>C (p.Val13Leu) | |
13 | g.20189545C>T | CA6904329 | GJB2 | c.37G>A (p.Val13Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189546A>C | CA483154042 | GJB2 | c.36T>G (p.Gly12=) | ClinVar dbSNP gnomAD v4 |
13 | g.20189546A>G | CA483154043 | GJB2 | c.36T>C (p.Gly12=) | gnomAD v4 |
13 | g.20189546A>T | CA483154044 | GJB2 | c.36T>A (p.Gly12=) | |
13 | g.20189546dup | CA2695217728 | GJB2 | c.36dup (p.Val13CysfsTer?) | |
13 | g.20189546_20189547delinsAC | CA2077109957 | GJB2 | c.35_36delinsGT (p.Gly12=) | |
13 | g.20189547C>A | CA172228 | GJB2 | c.35G>T (p.Gly12Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189547C= | CA2018046961 | GJB2 | c.35G= (p.Gly12=) | |
13 | g.20189547C>G | CA387462219 | GJB2 | c.35G>C (p.Gly12Ala) | |
13 | g.20189547C>T | CA6904330 | GJB2 | c.35G>A (p.Gly12Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189552dup | CA222247 | GJB2 | c.35dup (p.Val13CysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189552del | CA127023 | GJB2 | c.35del (p.Gly12ValfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189548C>A | CA172224 | GJB2 | c.34G>T (p.Gly12Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189548C= | CA2077109991 | GJB2 | c.34G= (p.Gly12=) | |
13 | g.20189548C>G | CA127028 | GJB2 | c.34G>C (p.Gly12Arg) | ClinVar dbSNP |
13 | g.20189548C>T | CA387462222 | GJB2 | c.34G>A (p.Gly12Ser) | |
13 | g.20189549C>A | CA6904331 | GJB2 | c.33G>T (p.Gly11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189549C= | CA2077110002 | GJB2 | c.33G= (p.Gly11=) | |
13 | g.20189549C>G | CA483154045 | GJB2 | c.33G>C (p.Gly11=) | |
13 | g.20189549C>T | CA483154046 | GJB2 | c.33G>A (p.Gly11=) | |
13 | g.20189550C>A | CA387462224 | GJB2 | c.32G>T (p.Gly11Val) | |
13 | g.20189550C>G | CA387462225 | GJB2 | c.32G>C (p.Gly11Ala) | |
13 | g.20189550C>T | CA387462226 | GJB2 | c.32G>A (p.Gly11Glu) | |
13 | g.20189551C>A | CA387462228 | GJB2 | c.31G>T (p.Gly11Trp) | |
13 | g.20189551C>G | CA387462229 | GJB2 | c.31G>C (p.Gly11Arg) | |
13 | g.20189551C>T | CA387462231 | GJB2 | c.31G>A (p.Gly11Arg) | COSMIC |
13 | g.20189552C>A | CA483154047 | GJB2 | c.30G>T (p.Leu10=) | |
13 | g.20189552C= | CA2077110008 | GJB2 | c.30G= (p.Leu10=) | |
13 | g.20189552C>G | CA483154048 | GJB2 | c.30G>C (p.Leu10=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189552C>T | CA483154049 | GJB2 | c.30G>A (p.Leu10=) | dbSNP |
13 | g.20189553del | CA645587649 | GJB2 | c.29del (p.Leu10ArgfsTer4) | COSMIC |
13 | g.20189553A= | CA2077110012 | GJB2 | c.29T= (p.Leu10=) | |
13 | g.20189553A>C | CA387462232 | GJB2 | c.29T>G (p.Leu10Arg) | |
13 | g.20189553A>G | CA387462233 | GJB2 | c.29T>C (p.Leu10Pro) | ClinVar dbSNP |
13 | g.20189553A>T | CA387462234 | GJB2 | c.29T>A (p.Leu10Gln) | |
13 | g.20189553_20189554delinsAG | CA2077110011 | GJB2 | c.28_29delinsCT (p.Leu10=) | |
13 | g.20189553_20189554delinsCA | CA1139532488 | GJB2 | c.28_29delinsTG (p.Leu10Trp) | |
13 | g.20189554G>A | CA483154050 | GJB2 | c.28C>T (p.Leu10=) | |
13 | g.20189554G>C | CA387462235 | GJB2 | c.28C>G (p.Leu10Val) | |
13 | g.20189554G>T | CA387462236 | GJB2 | c.28C>A (p.Leu10Met) | COSMIC |
13 | g.20189555del | CA608984147 | GJB2 | c.28del (p.Leu10TrpfsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189555G>A | CA483154051 | GJB2 | c.27C>T (p.Ile9=) | |
13 | g.20189555G>C | CA387462238 | GJB2 | c.27C>G (p.Ile9Met) | |
13 | g.20189555G= | CA2077110015 | GJB2 | c.27C= (p.Ile9=) | |
13 | g.20189555G>T | CA483154052 | GJB2 | c.27C>A (p.Ile9=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189556A>C | CA387462245 | GJB2 | c.26T>G (p.Ile9Ser) | |
13 | g.20189556A>G | CA387462241 | GJB2 | c.26T>C (p.Ile9Thr) | gnomAD v4 |
13 | g.20189556A>T | CA387462247 | GJB2 | c.26T>A (p.Ile9Asn) | gnomAD v4 |
13 | g.20189557T>A | CA387462249 | GJB2 | c.25A>T (p.Ile9Phe) | |
13 | g.20189557T>C | CA387462251 | GJB2 | c.25A>G (p.Ile9Val) | gnomAD v4 |
13 | g.20189557T>G | CA387462250 | GJB2 | c.25A>C (p.Ile9Leu) | |
13 | g.20189558C>A | CA483154053 | GJB2 | c.24G>T (p.Thr8=) | gnomAD v4 |
13 | g.20189558C= | CA2077110018 | GJB2 | c.24G= (p.Thr8=) | |
13 | g.20189558C>G | CA483154054 | GJB2 | c.24G>C (p.Thr8=) | ClinVar dbSNP gnomAD v4 |
13 | g.20189558C>T | CA274828 | GJB2 | c.24G>A (p.Thr8=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189558_20189559insT | CA2695217729 | GJB2 | c.23_24insA (p.Ile9AspfsTer?) | |
13 | g.20189559G>A | CA6904332 | GJB2 | c.23C>T (p.Thr8Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189559G>C | CA387462252 | GJB2 | c.23C>G (p.Thr8Arg) | |
13 | g.20189559G= | CA2077110028 | GJB2 | c.23C= (p.Thr8=) | |
13 | g.20189559G>T | CA387462253 | GJB2 | c.23C>A (p.Thr8Lys) | |
13 | g.20189560T>A | CA387462254 | GJB2 | c.22A>T (p.Thr8Ser) | |
13 | g.20189560T>C | CA387462255 | GJB2 | c.22A>G (p.Thr8Ala) | |
13 | g.20189560T>G | CA387462256 | GJB2 | c.22A>C (p.Thr8Pro) | |
13 | g.20189561C>A | CA387462257 | GJB2 | c.21G>T (p.Gln7His) | |
13 | g.20189561C= | CA2077110035 | GJB2 | c.21G= (p.Gln7=) | |
13 | g.20189561C>G | CA387462258 | GJB2 | c.21G>C (p.Gln7His) | |
13 | g.20189561C>T | CA182152 | GJB2 | c.21G>A (p.Gln7=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189562T>A | CA387462259 | GJB2 | c.20A>T (p.Gln7Leu) | |
13 | g.20189562T>C | CA387462260 | GJB2 | c.20A>G (p.Gln7Arg) | |
13 | g.20189562T>G | CA387462261 | GJB2 | c.20A>C (p.Gln7Pro) | gnomAD v4 |
13 | g.20189563G>A | CA261641 | GJB2 | c.19C>T (p.Gln7Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189563G>C | CA387462262 | GJB2 | c.19C>G (p.Gln7Glu) | |
13 | g.20189563G= | CA2077110044 | GJB2 | c.19C= (p.Gln7=) | |
13 | g.20189563G>T | CA387462263 | GJB2 | c.19C>A (p.Gln7Lys) | |
13 | g.20189564C>A | CA483154055 | GJB2 | c.18G>T (p.Leu6=) | gnomAD v4 |
13 | g.20189564C>G | CA483154057 | GJB2 | c.18G>C (p.Leu6=) | |
13 | g.20189564C>T | CA483154056 | GJB2 | c.18G>A (p.Leu6=) | |
13 | g.20189565A>C | CA387462264 | GJB2 | c.17T>G (p.Leu6Arg) | |
13 | g.20189565A>G | CA387462265 | GJB2 | c.17T>C (p.Leu6Pro) | |
13 | g.20189565A>T | CA387462266 | GJB2 | c.17T>A (p.Leu6Gln) | |
13 | g.20189566G>A | CA483154058 | GJB2 | c.16C>T (p.Leu6=) | |
13 | g.20189566G>C | CA387462267 | GJB2 | c.16C>G (p.Leu6Val) | |
13 | g.20189566G>T | CA387462268 | GJB2 | c.16C>A (p.Leu6Met) | |
13 | g.20189567C>A | CA483154059 | GJB2 | c.15G>T (p.Thr5=) | |
13 | g.20189567C= | CA2077110051 | GJB2 | c.15G= (p.Thr5=) | |
13 | g.20189567C>G | CA483154060 | GJB2 | c.15G>C (p.Thr5=) | ClinVar dbSNP gnomAD v4 |
13 | g.20189567C>T | CA6904333 | GJB2 | c.15G>A (p.Thr5=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189568G>A | CA6904334 | GJB2 | c.14C>T (p.Thr5Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189568G>C | CA387462269 | GJB2 | c.14C>G (p.Thr5Arg) | |
13 | g.20189568G= | CA2077110061 | GJB2 | c.14C= (p.Thr5=) | |
13 | g.20189568G>T | CA387462270 | GJB2 | c.14C>A (p.Thr5Lys) | |
13 | g.20189569T>A | CA387462271 | GJB2 | c.13A>T (p.Thr5Ser) | |
13 | g.20189569T>C | CA387462272 | GJB2 | c.13A>G (p.Thr5Ala) | |
13 | g.20189569T>G | CA387462273 | GJB2 | c.13A>C (p.Thr5Pro) | |
13 | g.20189570G>A | CA483154061 | GJB2 | c.12C>T (p.Gly4=) | COSMIC |
13 | g.20189570G>C | CA483154062 | GJB2 | c.12C>G (p.Gly4=) | |
13 | g.20189570G>T | CA483154063 | GJB2 | c.12C>A (p.Gly4=) | |
13 | g.20189570_20189571delinsGC | CA2077110069 | GJB2 | c.11_12delinsGC (p.Gly4=) | |
13 | g.20189571C>A | CA6904335 | GJB2 | c.11G>T (p.Gly4Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189571C= | CA2077110082 | GJB2 | c.11G= (p.Gly4=) | |
13 | g.20189571C>G | CA387462274 | GJB2 | c.11G>C (p.Gly4Ala) | |
13 | g.20189571C>T | CA134947 | GJB2 | c.11G>A (p.Gly4Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189574del | CA483154064 | GJB2 | c.11del (p.Gly4AlafsTer10) | ClinVar dbSNP gnomAD v4 |
13 | g.20189572C>A | CA387462275 | GJB2 | c.10G>T (p.Gly4Cys) | |
13 | g.20189572C= | CA2077110089 | GJB2 | c.10G= (p.Gly4=) | |
13 | g.20189572C>G | CA387462276 | GJB2 | c.10G>C (p.Gly4Arg) | |
13 | g.20189572C>T | CA387462277 | GJB2 | c.10G>A (p.Gly4Ser) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189573C>A | CA387462278 | GJB2 | c.9G>T (p.Trp3Cys) | ClinVar dbSNP |
13 | g.20189573C= | CA2077110092 | GJB2 | c.9G= (p.Trp3=) | |
13 | g.20189573C>G | CA387462279 | GJB2 | c.9G>C (p.Trp3Cys) | |
13 | g.20189573C>T | CA261655 | GJB2 | c.9G>A (p.Trp3Ter) | ClinVar dbSNP |
13 | g.20189574C>A | CA387462280 | GJB2 | c.8G>T (p.Trp3Leu) | |
13 | g.20189574C>G | CA387462281 | GJB2 | c.8G>C (p.Trp3Ser) | ClinVar |
13 | g.20189574C>T | CA387462282 | GJB2 | c.8G>A (p.Trp3Ter) | |
13 | g.20189575A>C | CA387462283 | GJB2 | c.7T>G (p.Trp3Gly) | |
13 | g.20189575A>G | CA387462284 | GJB2 | c.7T>C (p.Trp3Arg) | |
13 | g.20189575A>T | CA387462285 | GJB2 | c.7T>A (p.Trp3Arg) | |
13 | g.20189576dup | CA2695217730 | GJB2 | c.7dup (p.Trp3LeufsTer?) | |
13 | g.20189576A= | CA2077110104 | GJB2 | c.6T= (p.Asp2=) | |
13 | g.20189576A>C | CA387462287 | GJB2 | c.6T>G (p.Asp2Glu) | |
13 | g.20189576A>G | CA483154065 | GJB2 | c.6T>C (p.Asp2=) | ClinVar dbSNP |
13 | g.20189576A>T | CA387462286 | GJB2 | c.6T>A (p.Asp2Glu) | |
13 | g.20189577T>A | CA387462288 | GJB2 | c.5A>T (p.Asp2Val) | |
13 | g.20189577T>C | CA387462289 | GJB2 | c.5A>G (p.Asp2Gly) | |
13 | g.20189577T>G | CA387462291 | GJB2 | c.5A>C (p.Asp2Ala) | |
13 | g.20189578C>A | CA387462294 | GJB2 | c.4G>T (p.Asp2Tyr) | |
13 | g.20189578C>G | CA387462295 | GJB2 | c.4G>C (p.Asp2His) | |
13 | g.20189578C>T | CA387462296 | GJB2 | c.4G>A (p.Asp2Asn) | gnomAD v4 |
13 | g.20189579C>A | CA387462298 | GJB2 | c.3G>T (p.Met1Ile) | |
13 | g.20189579C>G | CA387462300 | GJB2 | c.3G>C (p.Met1Ile) | |
13 | g.20189579C>T | CA387462302 | GJB2 | c.3G>A (p.Met1Ile) | ClinVar |
13 | g.20189580A= | CA2077110108 | GJB2 | c.2T= (p.Met1=) | |
13 | g.20189580A>C | CA387462304 | GJB2 | c.2T>G (p.Met1Arg) | ClinVar dbSNP |
13 | g.20189580A>G | CA6904336 | GJB2 | c.2T>C (p.Met1Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189580A>T | CA387462307 | GJB2 | c.2T>A (p.Met1Lys) | |
13 | g.20189581T>A | CA387462311 | GJB2 | c.1A>T (p.Met1Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.20189581T>C | CA198806 | GJB2 | c.1A>G (p.Met1Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189581T>G | CA387462309 | GJB2 | c.1A>C (p.Met1Leu) | |
13 | g.20189581T= | CA2077110115 | GJB2 | c.1A= (p.Met1=) | |
13 | g.20189582C>A | CA2077110121 | GJB2 | c.-1G>T (n.-1G>T) | dbSNP |
13 | g.20189582C= | CA2077110118 | GJB2 | c.-1G= (n.-1G=) | |
13 | g.20189582C>T | CA6904337 | GJB2 | c.-1G>A (n.-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189584T>C | CA6904338 | GJB2 | c.-3A>G (n.-3A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189584T= | CA2077110126 | GJB2 | c.-3A= (n.-3A=) | |
13 | g.20189586T>C | CA2798416347 | GJB2 | c.-5A>G (n.-5A>G) | |
13 | g.20189587A= | CA2077110130 | GJB2 | c.-6T= (n.-6T=) | |
13 | g.20189587A>T | CA134946 | GJB2 | c.-6T>A (n.-6T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189588C= | CA2077110138 | GJB2 | c.-7G= (n.-7G=) | |
13 | g.20189588C>G | CA6904339 | GJB2 | c.-7G>C (n.-7G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189588C>T | CA222243 | GJB2 | c.-7G>A (n.-7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189589T>C | CA6904340 | GJB2 | c.-8A>G (n.-8A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189589T= | CA2077110154 | GJB2 | c.-8A= (n.-8A=) | |
13 | g.20189595_20189676del | CA2622252312 | GJB2 | c.-89_-8del (n.-89_-8del) c.-22-67_-8del | gnomAD v4 |
13 | g.20189591T>C | CA246461148 | GJB2 | c.-10A>G (n.-10A>G) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189591T= | CA2077110158 | GJB2 | c.-10A= (n.-10A=) | |
13 | g.20189591_20189592delinsTG | CA2077110161 | GJB2 | c.-11_-10delinsCA (n.-11_-10delinsCA) | |
13 | g.20189592G>A | CA2622252313 | GJB2 | c.-11C>T (n.-11C>T) | gnomAD v4 |
13 | g.20189594del | CA6904341 | GJB2 | c.-11del (n.-11del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189593G>A | CA2077110164 | GJB2 | c.-12C>T (n.-12C>T) | ClinVar dbSNP |
13 | g.20189593G= | CA2077110167 | GJB2 | c.-12C= (n.-12C=) | |
13 | g.20189594G>A | CA696364163 | GJB2 | c.-13C>T (n.-13C>T) | dbSNP |
13 | g.20189594G= | CA2077110174 | GJB2 | c.-13C= (n.-13C=) | |
13 | g.20189594G>T | CA953782246 | GJB2 | c.-13C>A (n.-13C>A) | dbSNP gnomAD v3 gnomAD v4 |