13 | g.20222637G>C | CA2622252264 | GJB6 | c.*58C>G (n.*58C>G)
| gnomAD v4 |
13 | g.20222637G>T | CA2622252265 | GJB6 | c.*58C>A (n.*58C>A)
| gnomAD v4 |
13 | g.20222638C= | CA2077159234 | GJB6 | c.*57G= (n.*57G=)
| |
13 | g.20222638C>T | CA608984161 | GJB6 | c.*57G>A (n.*57G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222639C= | CA2077159237 | GJB6 | c.*56G= (n.*56G=)
| |
13 | g.20222639C>T | CA2077159238 | GJB6 | c.*56G>A (n.*56G>A)
| dbSNP gnomAD v4 |
13 | g.20222641T>C | CA2575364814 | GJB6 | c.*54A>G (n.*54A>G)
| gnomAD v4 |
13 | g.20222643T>C | CA246490345 | GJB6 | c.*52A>G (n.*52A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222643T= | CA2077159239 | GJB6 | c.*52A= (n.*52A=)
| |
13 | g.20222645del | CA2575364816 | GJB6 | c.*51del (n.*51del)
| gnomAD v4 |
13 | g.20222645_20222647del | CA2575364815 | GJB6 | c.*49_*51del (n.*49_*51del)
| gnomAD v4 |
13 | g.20222645_20222652delinsGAGAAGAC | CA2077159241 | GJB6 | c.*43_*50delinsGTCTTCTC (n.*43_*50delinsGTCTTCTC)
| |
13 | g.20222646A= | CA2077159244 | GJB6 | c.*49T= (n.*49T=)
| |
13 | g.20222646A>G | CA2077159242 | GJB6 | c.*49T>C (n.*49T>C)
| dbSNP gnomAD v4 |
13 | g.20222651_20222657del | CA608984162 | GJB6 | c.*43_*49del (n.*43_*49del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222650del | CA2622252266 | GJB6 | c.*45del (n.*45del)
| gnomAD v4 |
13 | g.20222650G>T | CA2622252267 | GJB6 | c.*45C>A (n.*45C>A)
| gnomAD v4 |
13 | g.20222651A= | CA2077159245 | GJB6 | c.*44T= (n.*44T=)
| |
13 | g.20222651A>G | CA246490349 | GJB6 | c.*44T>C (n.*44T>C)
| dbSNP |
13 | g.20222652C= | CA2077159247 | GJB6 | c.*43G= (n.*43G=)
| |
13 | g.20222652C>T | CA6904353 | GJB6 | c.*43G>A (n.*43G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20222654G>A | CA6904354 | GJB6 | c.*41C>T (n.*41C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20222654G= | CA2077159250 | GJB6 | c.*41C= (n.*41C=)
| |
13 | g.20222655A>G | CA2622252269 | GJB6 | c.*40T>C (n.*40T>C)
| gnomAD v4 |
13 | g.20222656del | CA2575364817 | GJB6 | c.*40del (n.*40del)
| |
13 | g.20222656A= | CA2077159252 | GJB6 | c.*39T= (n.*39T=)
| |
13 | g.20222656A>C | CA6904355 | GJB6 | c.*39T>G (n.*39T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222657G= | CA2077159253 | GJB6 | c.*38C= (n.*38C=)
| |
13 | g.20222657G>T | CA2077159254 | GJB6 | c.*38C>A (n.*38C>A)
| dbSNP gnomAD v4 |
13 | g.20222660T>C | CA2622252270 | GJB6 | c.*35A>G (n.*35A>G)
| gnomAD v4 |
13 | g.20222661C>A | CA2798416935 | GJB6 | c.*34G>T (n.*34G>T)
| |
13 | g.20222665A= | CA2077159256 | GJB6 | c.*30T= (n.*30T=)
| |
13 | g.20222665A>G | CA6904356 | GJB6 | c.*30T>C (n.*30T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222666T>A | CA2622252271 | GJB6 | c.*29A>T (n.*29A>T)
| gnomAD v4 |
13 | g.20222666T>C | CA2575364818 | GJB6 | c.*29A>G (n.*29A>G)
| gnomAD v4 |
13 | g.20222666T>G | CA2077159257 | GJB6 | c.*29A>C (n.*29A>C)
| dbSNP gnomAD v4 |
13 | g.20222666T= | CA2077159259 | GJB6 | c.*29A= (n.*29A=)
| |
13 | g.20222667G>T | CA2622252272 | GJB6 | c.*28C>A (n.*28C>A)
| gnomAD v4 |
13 | g.20222669C= | CA2077159260 | GJB6 | c.*26G= (n.*26G=)
| |
13 | g.20222669C>T | CA6904357 | GJB6 | c.*26G>A (n.*26G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20222670G>A | CA6904358 | GJB6 | c.*25C>T (n.*25C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222670G= | CA2077159262 | GJB6 | c.*25C= (n.*25C=)
| |
13 | g.20222672A>C | CA2622252273 | GJB6 | c.*23T>G (n.*23T>G)
| gnomAD v4 |
13 | g.20222673G>T | CA2622252274 | GJB6 | c.*22C>A (n.*22C>A)
| gnomAD v4 |
13 | g.20222674C>A | CA2077159264 | GJB6 | c.*21G>T (n.*21G>T)
| dbSNP |
13 | g.20222674C= | CA2077159263 | GJB6 | c.*21G= (n.*21G=)
| |
13 | g.20222677C= | CA2077159265 | GJB6 | c.*18G= (n.*18G=)
| |
13 | g.20222677C>T | CA6904359 | GJB6 | c.*18G>A (n.*18G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20222679T>C | CA953779299 | GJB6 | c.*16A>G (n.*16A>G)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20222679T>G | CA2077159268 | GJB6 | c.*16A>C (n.*16A>C)
| dbSNP |
13 | g.20222679T= | CA2077159267 | GJB6 | c.*16A= (n.*16A=)
| |
13 | g.20222681T>A | CA2622252275 | GJB6 | c.*14A>T (n.*14A>T)
| gnomAD v4 |
13 | g.20222682T>A | CA2622252276 | GJB6 | c.*13A>T (n.*13A>T)
| gnomAD v4 |
13 | g.20222682T>C | CA2575364819 | GJB6 | c.*13A>G (n.*13A>G)
| gnomAD v4 |
13 | g.20222684C>A | CA953779301 | GJB6 | c.*11G>T (n.*11G>T)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20222684C= | CA2077159269 | GJB6 | c.*11G= (n.*11G=)
| |
13 | g.20222684C>T | CA246490377 | GJB6 | c.*11G>A (n.*11G>A)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20222685C>T | CA2622252277 | GJB6 | c.*10G>A (n.*10G>A)
| gnomAD v4 |
13 | g.20222685_20222686delinsCT | CA2077159271 | GJB6 | c.*9_*10delinsAG (n.*9_*10delinsAG)
| |
13 | g.20222687del | CA6904360 | GJB6 | c.*9del (n.*9del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20222687T>G | CA6904361 | GJB6 | c.*8A>C (n.*8A>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20222687T= | CA2077159274 | GJB6 | c.*8A= (n.*8A=)
| |
13 | g.20222688G>C | CA2077159276 | GJB6 | c.*7C>G (n.*7C>G)
| dbSNP |
13 | g.20222688G= | CA2077159275 | GJB6 | c.*7C= (n.*7C=)
| |
13 | g.20222692T>C | CA2622252278 | GJB6 | c.*3A>G (n.*3A>G)
| gnomAD v4 |
13 | g.20222692_20222693delinsTG | CA2077159277 | GJB6 | c.*2_*3delinsCA (n.*2_*3delinsCA)
| |
13 | g.20222693del | CA608984163 | GJB6 | c.*2del (n.*2del)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20222693G>A | CA2077159280 | GJB6 | c.*2C>T (n.*2C>T)
| dbSNP |
13 | g.20222693G= | CA2077159279 | GJB6 | c.*2C= (n.*2C=)
| |
13 | g.20222694T>C | CA2077159283 | GJB6 | c.*1A>G (n.*1A>G)
| dbSNP |
13 | g.20222694T= | CA2077159282 | GJB6 | c.*1A= (n.*1A=)
| |
13 | g.20222695T>A | CA387467009 | GJB6 | c.786A>T (p.Ter262Tyr)
| |
13 | g.20222695T>C | CA483154066 | GJB6 | c.786A>G (p.Ter262=)
| |
13 | g.20222695T>G | CA387467010 | GJB6 | c.786A>C (p.Ter262Tyr)
| |
13 | g.20222696T>A | CA387467011 | GJB6 | c.785A>T (p.Ter262Leu)
| |
13 | g.20222696T>C | CA6904362 | GJB6 | c.785A>G (p.Ter262=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222696T>G | CA387467012 | GJB6 | c.785A>C (p.Ter262Ser)
| |
13 | g.20222696T= | CA2077159285 | GJB6 | c.785A= (p.Ter262=)
| |
13 | g.20222697A>C | CA387467013 | GJB6 | c.784T>G (p.Ter262Glu)
| |
13 | g.20222697A>G | CA387467014 | GJB6 | c.784T>C (p.Ter262Gln)
| |
13 | g.20222697A>T | CA387467015 | GJB6 | c.784T>A (p.Ter262Lys)
| |
13 | g.20222698G>A | CA483154067 | GJB6 | c.783C>T (p.Ser261=)
| |
13 | g.20222698G>C | CA387467016 | GJB6 | c.783C>G (p.Ser261Arg)
| gnomAD v4 |
13 | g.20222698G>T | CA387467017 | GJB6 | c.783C>A (p.Ser261Arg)
| |
13 | g.20222699C>A | CA387467018 | GJB6 | c.782G>T (p.Ser261Ile)
| |
13 | g.20222699C>G | CA387467020 | GJB6 | c.782G>C (p.Ser261Thr)
| |
13 | g.20222699C>T | CA387467019 | GJB6 | c.782G>A (p.Ser261Asn)
| |
13 | g.20222700T>A | CA6904364 | GJB6 | c.781A>T (p.Ser261Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20222700T>C | CA6904363 | GJB6 | c.781A>G (p.Ser261Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222700T>G | CA387467022 | GJB6 | c.781A>C (p.Ser261Arg)
| |
13 | g.20222700T= | CA2077159288 | GJB6 | c.781A= (p.Ser261=)
| |
13 | g.20222701T>A | CA483154068 | GJB6 | c.780A>T (p.Pro260=)
| |
13 | g.20222701T>C | CA483154070 | GJB6 | c.780A>G (p.Pro260=)
| |
13 | g.20222701T>G | CA483154069 | GJB6 | c.780A>C (p.Pro260=)
| |
13 | g.20222702G>A | CA387467024 | GJB6 | c.779C>T (p.Pro260Leu)
| |
13 | g.20222702G>C | CA387467026 | GJB6 | c.779C>G (p.Pro260Arg)
| |
13 | g.20222702G>T | CA387467027 | GJB6 | c.779C>A (p.Pro260Gln)
| gnomAD v4 COSMIC |
13 | g.20222703G>A | CA387467033 | GJB6 | c.778C>T (p.Pro260Ser)
| |
13 | g.20222703G>C | CA387467029 | GJB6 | c.778C>G (p.Pro260Ala)
| |
13 | g.20222703G>T | CA387467031 | GJB6 | c.778C>A (p.Pro260Thr)
| |
13 | g.20222704G>A | CA483154071 | GJB6 | c.777C>T (p.Phe259=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222704G>C | CA387467034 | GJB6 | c.777C>G (p.Phe259Leu)
| |
13 | g.20222704G= | CA2077159297 | GJB6 | c.777C= (p.Phe259=)
| |
13 | g.20222704G>T | CA387467035 | GJB6 | c.777C>A (p.Phe259Leu)
| |
13 | g.20222705A>C | CA387467038 | GJB6 | c.776T>G (p.Phe259Cys)
| |
13 | g.20222705A>G | CA387467039 | GJB6 | c.776T>C (p.Phe259Ser)
| |
13 | g.20222705A>T | CA387467041 | GJB6 | c.776T>A (p.Phe259Tyr)
| |
13 | g.20222706A= | CA2077159300 | GJB6 | c.775T= (p.Phe259=)
| |
13 | g.20222706A>C | CA387467045 | GJB6 | c.775T>G (p.Phe259Val)
| |
13 | g.20222706A>G | CA6904365 | GJB6 | c.775T>C (p.Phe259Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20222706A>T | CA387467043 | GJB6 | c.775T>A (p.Phe259Ile)
| |
13 | g.20222707A>C | CA483154072 | GJB6 | c.774T>G (p.Gly258=)
| |
13 | g.20222707A>G | CA483154073 | GJB6 | c.774T>C (p.Gly258=)
| gnomAD v4 |
13 | g.20222707A>T | CA483154074 | GJB6 | c.774T>A (p.Gly258=)
| |
13 | g.20222708C>A | CA387467047 | GJB6 | c.773G>T (p.Gly258Val)
| gnomAD v4 |
13 | g.20222708C= | CA2077159302 | GJB6 | c.773G= (p.Gly258=)
| |
13 | g.20222708C>G | CA6904366 | GJB6 | c.773G>C (p.Gly258Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222708C>T | CA387467048 | GJB6 | c.773G>A (p.Gly258Asp)
| |
13 | g.20222709C>A | CA387467050 | GJB6 | c.772G>T (p.Gly258Cys)
| gnomAD v4 |
13 | g.20222709C= | CA2077159305 | GJB6 | c.772G= (p.Gly258=)
| |
13 | g.20222709C>G | CA387467052 | GJB6 | c.772G>C (p.Gly258Arg)
| |
13 | g.20222709C>T | CA6904367 | GJB6 | c.772G>A (p.Gly258Ser)
| dbSNP ExAC gnomAD v2 |
13 | g.20222710T>A | CA483154075 | GJB6 | c.771A>T (p.Thr257=)
| |
13 | g.20222710T>C | CA483154076 | GJB6 | c.771A>G (p.Thr257=)
| dbSNP COSMIC |
13 | g.20222710T>G | CA483154077 | GJB6 | c.771A>C (p.Thr257=)
| |
13 | g.20222711G>A | CA387467055 | GJB6 | c.770C>T (p.Thr257Ile)
| dbSNP |
13 | g.20222711G>C | CA387467057 | GJB6 | c.770C>G (p.Thr257Arg)
| |
13 | g.20222711G= | CA2077159308 | GJB6 | c.770C= (p.Thr257=)
| |
13 | g.20222711G>T | CA387467058 | GJB6 | c.770C>A (p.Thr257Lys)
| |
13 | g.20222712T>A | CA387467060 | GJB6 | c.769A>T (p.Thr257Ser)
| |
13 | g.20222712T>C | CA387467062 | GJB6 | c.769A>G (p.Thr257Ala)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20222712T>G | CA387467064 | GJB6 | c.769A>C (p.Thr257Pro)
| |
13 | g.20222712T= | CA2077159310 | GJB6 | c.769A= (p.Thr257=)
| |
13 | g.20222713G>A | CA483154078 | GJB6 | c.768C>T (p.Ile256=)
| |
13 | g.20222713G>C | CA387467065 | GJB6 | c.768C>G (p.Ile256Met)
| |
13 | g.20222713G>T | CA483154079 | GJB6 | c.768C>A (p.Ile256=)
| |
13 | g.20222714A= | CA2077159312 | GJB6 | c.767T= (p.Ile256=)
| |
13 | g.20222714A>C | CA387467068 | GJB6 | c.767T>G (p.Ile256Ser)
| |
13 | g.20222714A>G | CA387467071 | GJB6 | c.767T>C (p.Ile256Thr)
| dbSNP |
13 | g.20222714A>T | CA387467069 | GJB6 | c.767T>A (p.Ile256Asn)
| |
13 | g.20222715T>A | CA387467072 | GJB6 | c.766A>T (p.Ile256Phe)
| |
13 | g.20222715T>C | CA6904368 | GJB6 | c.766A>G (p.Ile256Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222715T>G | CA387467074 | GJB6 | c.766A>C (p.Ile256Leu)
| |
13 | g.20222715T= | CA2077159314 | GJB6 | c.766A= (p.Ile256=)
| |
13 | g.20222716T>A | CA483154082 | GJB6 | c.765A>T (p.Ala255=)
| |
13 | g.20222716T>C | CA483154081 | GJB6 | c.765A>G (p.Ala255=)
| |
13 | g.20222716T>G | CA483154080 | GJB6 | c.765A>C (p.Ala255=)
| |
13 | g.20222717G>A | CA387467076 | GJB6 | c.764C>T (p.Ala255Val)
| gnomAD v4 |
13 | g.20222717G>C | CA387467077 | GJB6 | c.764C>G (p.Ala255Gly)
| |
13 | g.20222717G>T | CA387467078 | GJB6 | c.764C>A (p.Ala255Glu)
| |
13 | g.20222718C>A | CA387467084 | GJB6 | c.763G>T (p.Ala255Ser)
| |
13 | g.20222718C>G | CA387467080 | GJB6 | c.763G>C (p.Ala255Pro)
| |
13 | g.20222718C>T | CA387467082 | GJB6 | c.763G>A (p.Ala255Thr)
| |
13 | g.20222719A>C | CA387467085 | GJB6 | c.762T>G (p.Asn254Lys)
| |
13 | g.20222719A>G | CA483154083 | GJB6 | c.762T>C (p.Asn254=)
| gnomAD v4 |
13 | g.20222719A>T | CA387467087 | GJB6 | c.762T>A (p.Asn254Lys)
| |
13 | g.20222720T>A | CA387467089 | GJB6 | c.761A>T (p.Asn254Ile)
| |
13 | g.20222720T>C | CA387467091 | GJB6 | c.761A>G (p.Asn254Ser)
| |
13 | g.20222720T>G | CA387467092 | GJB6 | c.761A>C (p.Asn254Thr)
| |
13 | g.20222721T>A | CA387467094 | GJB6 | c.760A>T (p.Asn254Tyr)
| |
13 | g.20222721T>C | CA387467098 | GJB6 | c.760A>G (p.Asn254Asp)
| |
13 | g.20222721T>G | CA387467096 | GJB6 | c.760A>C (p.Asn254His)
| |
13 | g.20222722T>A | CA387467099 | GJB6 | c.759A>T (p.Gln253His)
| |
13 | g.20222722T>C | CA483154084 | GJB6 | c.759A>G (p.Gln253=)
| |
13 | g.20222722T>G | CA387467101 | GJB6 | c.759A>C (p.Gln253His)
| |
13 | g.20222723T>A | CA387467103 | GJB6 | c.758A>T (p.Gln253Leu)
| |
13 | g.20222723T>C | CA387467104 | GJB6 | c.758A>G (p.Gln253Arg)
| |
13 | g.20222723T>G | CA387467106 | GJB6 | c.758A>C (p.Gln253Pro)
| |
13 | g.20222724G>A | CA387467107 | GJB6 | c.757C>T (p.Gln253Ter)
| dbSNP |
13 | g.20222724G>C | CA387467108 | GJB6 | c.757C>G (p.Gln253Glu)
| |
13 | g.20222724G= | CA2077159317 | GJB6 | c.757C= (p.Gln253=)
| |
13 | g.20222724G>T | CA387467109 | GJB6 | c.757C>A (p.Gln253Lys)
| |
13 | g.20222725A= | CA2077159322 | GJB6 | c.756T= (p.Gly252=)
| |
13 | g.20222725A>C | CA483154085 | GJB6 | c.756T>G (p.Gly252=)
| |
13 | g.20222725A>G | CA6904370 | GJB6 | c.756T>C (p.Gly252=)
| dbSNP ExAC gnomAD v4 |
13 | g.20222725A>T | CA483154086 | GJB6 | c.756T>A (p.Gly252=)
| |
13 | g.20222725_20222726insTGCAA | CA6904369 | GJB6 | c.756_757insTGCAT (p.Gln253CysfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20222726C>A | CA387467116 | GJB6 | c.755G>T (p.Gly252Val)
| |
13 | g.20222726C= | CA2077159325 | GJB6 | c.755G= (p.Gly252=)
| |
13 | g.20222726C>G | CA387467113 | GJB6 | c.755G>C (p.Gly252Ala)
| |
13 | g.20222726C>T | CA6904371 | GJB6 | c.755G>A (p.Gly252Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222727C>A | CA387467117 | GJB6 | c.754G>T (p.Gly252Cys)
| |
13 | g.20222727C>G | CA387467119 | GJB6 | c.754G>C (p.Gly252Arg)
| |
13 | g.20222727C>T | CA387467120 | GJB6 | c.754G>A (p.Gly252Ser)
| |
13 | g.20222727_20222731delinsCACTA | CA2077159328 | GJB6 | c.750_754delinsTAGTG (p.Asp250=)
| |
13 | g.20222728A= | CA2077159333 | GJB6 | c.753T= (p.Ser251=)
| |
13 | g.20222728A>C | CA6904373 | GJB6 | c.753T>G (p.Ser251Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20222728A>G | CA483154087 | GJB6 | c.753T>C (p.Ser251=)
| gnomAD v4 |
13 | g.20222728A>T | CA387467123 | GJB6 | c.753T>A (p.Ser251Arg)
| |
13 | g.20222728_20222731del | CA6904372 | GJB6 | c.750_753del (p.Asp250GlufsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20222729_20222731del | CA2622252280 | GJB6 | c.751_753del (p.Ser251del)
| gnomAD v4 |
13 | g.20222729C>A | CA387467125 | GJB6 | c.752G>T (p.Ser251Ile)
| |
13 | g.20222729C>G | CA387467127 | GJB6 | c.752G>C (p.Ser251Thr)
| |
13 | g.20222729C>T | CA387467129 | GJB6 | c.752G>A (p.Ser251Asn)
| |
13 | g.20222730T>A | CA387467130 | GJB6 | c.751A>T (p.Ser251Cys)
| |
13 | g.20222730T>C | CA387467131 | GJB6 | c.751A>G (p.Ser251Gly)
| |
13 | g.20222730T>G | CA387467133 | GJB6 | c.751A>C (p.Ser251Arg)
| |
13 | g.20222731A>C | CA387467135 | GJB6 | c.750T>G (p.Asp250Glu)
| |
13 | g.20222731A>G | CA483154088 | GJB6 | c.750T>C (p.Asp250=)
| |
13 | g.20222731A>T | CA387467136 | GJB6 | c.750T>A (p.Asp250Glu)
| |
13 | g.20222732T>A | CA6904374 | GJB6 | c.749A>T (p.Asp250Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20222732T>C | CA387467139 | GJB6 | c.749A>G (p.Asp250Gly)
| gnomAD v4 |
13 | g.20222732T>G | CA387467137 | GJB6 | c.749A>C (p.Asp250Ala)
| |
13 | g.20222732T= | CA2077159338 | GJB6 | c.749A= (p.Asp250=)
| |
13 | g.20222733C>A | CA387467142 | GJB6 | c.748G>T (p.Asp250Tyr)
| |
13 | g.20222733C= | CA2077159340 | GJB6 | c.748G= (p.Asp250=)
| |
13 | g.20222733C>G | CA6904375 | GJB6 | c.748G>C (p.Asp250His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20222733C>T | CA387467144 | GJB6 | c.748G>A (p.Asp250Asn)
| |
13 | g.20222734T>A | CA483154089 | GJB6 | c.747A>T (p.Ser249=)
| |
13 | g.20222734T>C | CA483154090 | GJB6 | c.747A>G (p.Ser249=)
| |
13 | g.20222734T>G | CA483154091 | GJB6 | c.747A>C (p.Ser249=)
| |
13 | g.20222735G>A | CA387467146 | GJB6 | c.746C>T (p.Ser249Leu)
| |
13 | g.20222735G>C | CA387467148 | GJB6 | c.746C>G (p.Ser249Ter)
| |
13 | g.20222735G>T | CA387467149 | GJB6 | c.746C>A (p.Ser249Ter)
| |
13 | g.20222736A= | CA2077159343 | GJB6 | c.745T= (p.Ser249=)
| |
13 | g.20222736A>C | CA387467152 | GJB6 | c.745T>G (p.Ser249Ala)
| |
13 | g.20222736A>G | CA387467153 | GJB6 | c.745T>C (p.Ser249Pro)
| |
13 | g.20222736A>T | CA387467154 | GJB6 | c.745T>A (p.Ser249Thr)
| COSMIC |
13 | g.20222736_20222737insTGAATG | CA6904376 | GJB6 | c.744_745insCATTCA (p.Ile248_Ser249insHisSer)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20222737A>C | CA387467157 | GJB6 | c.744T>G (p.Ile248Met)
| |
13 | g.20222737A>G | CA483154093 | GJB6 | c.744T>C (p.Ile248=)
| |
13 | g.20222737A>T | CA483154092 | GJB6 | c.744T>A (p.Ile248=)
| |