Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.74919660C>A | CA502036640 | USH1G | c.1176G>T (p.Leu392=) c.*775G>T (n.*775G>T) c.867G>T (p.Leu289=) | |
17 | g.74919660C>G | CA502036641 | USH1G | c.1176G>C (p.Leu392=) c.*775G>C (n.*775G>C) c.867G>C (p.Leu289=) | |
17 | g.74919660C>T | CA502036642 | USH1G | c.1176G>A (p.Leu392=) c.*775G>A (n.*775G>A) c.867G>A (p.Leu289=) | |
17 | g.74919660_74919661insT | CA2576383326 | USH1G | c.1175_1176insA (p.Glu393GlyfsTer?) c.*774_*775insA (n.*774_*775insA) c.866_867insA (p.Glu290GlyfsTer?) | gnomAD v4 |
17 | g.74919661A>C | CA400961518 | USH1G | c.1175T>G (p.Leu392Arg) c.*774T>G (n.*774T>G) c.866T>G (p.Leu289Arg) | |
17 | g.74919661A>G | CA400961519 | USH1G | c.1175T>C (p.Leu392Pro) c.*774T>C (n.*774T>C) c.866T>C (p.Leu289Pro) | |
17 | g.74919661A>T | CA400961520 | USH1G | c.1175T>A (p.Leu392Gln) c.*774T>A (n.*774T>A) c.866T>A (p.Leu289Gln) | gnomAD v4 |
17 | g.74919661_74919662delinsAG | CA2275255196 | USH1G | c.1174_1175delinsCT (p.Leu392=) c.*773_*774delinsCT (n.*773_*774delinsCT) c.865_866delinsCT (p.Leu289=) | |
17 | g.74919662del | CA2275255197 | USH1G | c.1174del (p.Leu392TrpfsTer27) c.*773del (n.*773del) c.865del (p.Leu289TrpfsTer27) | dbSNP |
17 | g.74919662G>A | CA8753919 | USH1G | c.1174C>T (p.Leu392=) c.*773C>T (n.*773C>T) c.865C>T (p.Leu289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919662G>C | CA400961521 | USH1G | c.1174C>G (p.Leu392Val) c.*773C>G (n.*773C>G) c.865C>G (p.Leu289Val) | |
17 | g.74919662G= | CA2275255198 | USH1G | c.1174C= (p.Leu392=) c.*773C= (n.*773C=) c.865C= (p.Leu289=) | |
17 | g.74919662G>T | CA400961522 | USH1G | c.1174C>A (p.Leu392Met) c.*773C>A (n.*773C>A) c.865C>A (p.Leu289Met) | |
17 | g.74919663_74919664del | CA2576383327 | USH1G | c.1173_1174del (p.Leu392GlyfsTer?) c.*772_*773del (n.*772_*773del) c.864_865del (p.Leu289GlyfsTer?) | gnomAD v4 |
17 | g.74919663C>A | CA502036647 | USH1G | c.1173G>T (p.Pro391=) c.*772G>T (n.*772G>T) c.864G>T (p.Pro288=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919663C= | CA2275255199 | USH1G | c.1173G= (p.Pro391=) c.*772G= (n.*772G=) c.864G= (p.Pro288=) | |
17 | g.74919663C>G | CA502036648 | USH1G | c.1173G>C (p.Pro391=) c.*772G>C (n.*772G>C) c.864G>C (p.Pro288=) | gnomAD v4 |
17 | g.74919663C>T | CA502036649 | USH1G | c.1173G>A (p.Pro391=) c.*772G>A (n.*772G>A) c.864G>A (p.Pro288=) | COSMIC |
17 | g.74919669_74919679del | CA2639747145 | USH1G | c.1163_1173del (p.Glu388AlafsTer?) c.*762_*772del (n.*762_*772del) c.854_864del (p.Glu285AlafsTer?) | gnomAD v4 |
17 | g.74919664G>A | CA400961523 | USH1G | c.1172C>T (p.Pro391Leu) c.*771C>T (n.*771C>T) c.863C>T (p.Pro288Leu) | |
17 | g.74919664G>C | CA400961524 | USH1G | c.1172C>G (p.Pro391Arg) c.*771C>G (n.*771C>G) c.863C>G (p.Pro288Arg) | |
17 | g.74919664G>T | CA400961525 | USH1G | c.1172C>A (p.Pro391Gln) c.*771C>A (n.*771C>A) c.863C>A (p.Pro288Gln) | |
17 | g.74919665G>A | CA400961526 | USH1G | c.1171C>T (p.Pro391Ser) c.*770C>T (n.*770C>T) c.862C>T (p.Pro288Ser) | gnomAD v4 |
17 | g.74919665G>C | CA400961527 | USH1G | c.1171C>G (p.Pro391Ala) c.*770C>G (n.*770C>G) c.862C>G (p.Pro288Ala) | |
17 | g.74919665G>T | CA400961528 | USH1G | c.1171C>A (p.Pro391Thr) c.*770C>A (n.*770C>A) c.862C>A (p.Pro288Thr) | |
17 | g.74919665_74919667del | CA645598975 | USH1G | c.1169_1171del (p.Ser390_Pro391delinsThr) c.*768_*770del (n.*768_*770del) c.860_862del (p.Ser287_Pro288delinsThr) | COSMIC |
17 | g.74919666G>A | CA8753920 | USH1G | c.1170C>T (p.Ser390=) c.*769C>T (n.*769C>T) c.861C>T (p.Ser287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919666G>C | CA400961530 | USH1G | c.1170C>G (p.Ser390Arg) c.*769C>G (n.*769C>G) c.861C>G (p.Ser287Arg) | gnomAD v4 |
17 | g.74919666G= | CA2275255200 | USH1G | c.1170C= (p.Ser390=) c.*769C= (n.*769C=) c.861C= (p.Ser287=) | |
17 | g.74919666G>T | CA400961529 | USH1G | c.1170C>A (p.Ser390Arg) c.*769C>A (n.*769C>A) c.861C>A (p.Ser287Arg) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919667C>A | CA400961531 | USH1G | c.1169G>T (p.Ser390Ile) c.*768G>T (n.*768G>T) c.860G>T (p.Ser287Ile) | dbSNP gnomAD v4 |
17 | g.74919667C= | CA2275255201 | USH1G | c.1169G= (p.Ser390=) c.*768G= (n.*768G=) c.860G= (p.Ser287=) | |
17 | g.74919667C>G | CA400961532 | USH1G | c.1169G>C (p.Ser390Thr) c.*768G>C (n.*768G>C) c.860G>C (p.Ser287Thr) | |
17 | g.74919667C>T | CA400961533 | USH1G | c.1169G>A (p.Ser390Asn) c.*768G>A (n.*768G>A) c.860G>A (p.Ser287Asn) | gnomAD v4 |
17 | g.74919668T>A | CA400961534 | USH1G | c.1168A>T (p.Ser390Cys) c.*767A>T (n.*767A>T) c.859A>T (p.Ser287Cys) | |
17 | g.74919668T>C | CA400961535 | USH1G | c.1168A>G (p.Ser390Gly) c.*767A>G (n.*767A>G) c.859A>G (p.Ser287Gly) | |
17 | g.74919668T>G | CA400961536 | USH1G | c.1168A>C (p.Ser390Arg) c.*767A>C (n.*767A>C) c.859A>C (p.Ser287Arg) | |
17 | g.74919669A= | CA2275255202 | USH1G | c.1167T= (p.Thr389=) c.*766T= (n.*766T=) c.858T= (p.Thr286=) | |
17 | g.74919669A>C | CA502036660 | USH1G | c.1167T>G (p.Thr389=) c.*766T>G (n.*766T>G) c.858T>G (p.Thr286=) | |
17 | g.74919669A>G | CA502036659 | USH1G | c.1167T>C (p.Thr389=) c.*766T>C (n.*766T>C) c.858T>C (p.Thr286=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919669A>T | CA502036658 | USH1G | c.1167T>A (p.Thr389=) c.*766T>A (n.*766T>A) c.858T>A (p.Thr286=) | |
17 | g.74919670G>A | CA400961537 | USH1G | c.1166C>T (p.Thr389Ile) c.*765C>T (n.*765C>T) c.857C>T (p.Thr286Ile) | |
17 | g.74919670G>C | CA400961538 | USH1G | c.1166C>G (p.Thr389Ser) c.*765C>G (n.*765C>G) c.857C>G (p.Thr286Ser) | |
17 | g.74919670G>T | CA400961539 | USH1G | c.1166C>A (p.Thr389Asn) c.*765C>A (n.*765C>A) c.857C>A (p.Thr286Asn) | |
17 | g.74919671T>A | CA400961540 | USH1G | c.1165A>T (p.Thr389Ser) c.*764A>T (n.*764A>T) c.856A>T (p.Thr286Ser) | |
17 | g.74919671T>C | CA400961541 | USH1G | c.1165A>G (p.Thr389Ala) c.*764A>G (n.*764A>G) c.856A>G (p.Thr286Ala) | |
17 | g.74919671T>G | CA400961542 | USH1G | c.1165A>C (p.Thr389Pro) c.*764A>C (n.*764A>C) c.856A>C (p.Thr286Pro) | |
17 | g.74919672C>A | CA400961543 | USH1G | c.1164G>T (p.Glu388Asp) c.*763G>T (n.*763G>T) c.855G>T (p.Glu285Asp) | |
17 | g.74919672C= | CA2275255203 | USH1G | c.1164G= (p.Glu388=) c.*763G= (n.*763G=) c.855G= (p.Glu285=) | |
17 | g.74919672C>G | CA8753921 | USH1G | c.1164G>C (p.Glu388Asp) c.*763G>C (n.*763G>C) c.855G>C (p.Glu285Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919672C>T | CA502036665 | USH1G | c.1164G>A (p.Glu388=) c.*763G>A (n.*763G>A) c.855G>A (p.Glu285=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919673del | CA2639747147 | USH1G | c.1163del (p.Glu388GlyfsTer?) c.*762del (n.*762del) c.854del (p.Glu285GlyfsTer?) | gnomAD v4 |
17 | g.74919673T>A | CA400961544 | USH1G | c.1163A>T (p.Glu388Val) c.*762A>T (n.*762A>T) c.854A>T (p.Glu285Val) | |
17 | g.74919673T>C | CA400961545 | USH1G | c.1163A>G (p.Glu388Gly) c.*762A>G (n.*762A>G) c.854A>G (p.Glu285Gly) | gnomAD v4 |
17 | g.74919673T>G | CA400961546 | USH1G | c.1163A>C (p.Glu388Ala) c.*762A>C (n.*762A>C) c.854A>C (p.Glu285Ala) | |
17 | g.74919674C>A | CA8753923 | USH1G | c.1162G>T (p.Glu388Ter) c.*761G>T (n.*761G>T) c.853G>T (p.Glu285Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919674C= | CA2275255204 | USH1G | c.1162G= (p.Glu388=) c.*761G= (n.*761G=) c.853G= (p.Glu285=) | |
17 | g.74919674C>G | CA400961547 | USH1G | c.1162G>C (p.Glu388Gln) c.*761G>C (n.*761G>C) c.853G>C (p.Glu285Gln) | |
17 | g.74919674C>T | CA8753922 | USH1G | c.1162G>A (p.Glu388Lys) c.*761G>A (n.*761G>A) c.853G>A (p.Glu285Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.74919674_74919675insAA | CA2639747148 | USH1G | c.1161_1162insTT (p.Glu388LeufsTer?) c.*760_*761insTT (n.*760_*761insTT) c.852_853insTT (p.Glu285LeufsTer?) | gnomAD v4 |
17 | g.74919675G>A | CA502036673 | USH1G | c.1161C>T (p.Pro387=) c.*760C>T (n.*760C>T) c.852C>T (p.Pro284=) | |
17 | g.74919675G>C | CA502036674 | USH1G | c.1161C>G (p.Pro387=) c.*760C>G (n.*760C>G) c.852C>G (p.Pro284=) | dbSNP gnomAD v4 |
17 | g.74919675G= | CA2275255205 | USH1G | c.1161C= (p.Pro387=) c.*760C= (n.*760C=) c.852C= (p.Pro284=) | |
17 | g.74919675G>T | CA502036675 | USH1G | c.1161C>A (p.Pro387=) c.*760C>A (n.*760C>A) c.852C>A (p.Pro284=) | |
17 | g.74919676G>A | CA400961548 | USH1G | c.1160C>T (p.Pro387Leu) c.*759C>T (n.*759C>T) c.851C>T (p.Pro284Leu) | |
17 | g.74919676G>C | CA400961549 | USH1G | c.1160C>G (p.Pro387Arg) c.*759C>G (n.*759C>G) c.851C>G (p.Pro284Arg) | |
17 | g.74919676G>T | CA400961550 | USH1G | c.1160C>A (p.Pro387His) c.*759C>A (n.*759C>A) c.851C>A (p.Pro284His) | |
17 | g.74919677G>A | CA400961551 | USH1G | c.1159C>T (p.Pro387Ser) c.*758C>T (n.*758C>T) c.850C>T (p.Pro284Ser) | COSMIC |
17 | g.74919677G>C | CA400961552 | USH1G | c.1159C>G (p.Pro387Ala) c.*758C>G (n.*758C>G) c.850C>G (p.Pro284Ala) | gnomAD v4 |
17 | g.74919677G>T | CA400961553 | USH1G | c.1159C>A (p.Pro387Thr) c.*758C>A (n.*758C>A) c.850C>A (p.Pro284Thr) | |
17 | g.74919678C>A | CA293983566 | USH1G | c.1158G>T (p.Glu386Asp) c.*757G>T (n.*757G>T) c.849G>T (p.Glu283Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919678C= | CA2275255206 | USH1G | c.1158G= (p.Glu386=) c.*757G= (n.*757G=) c.849G= (p.Glu283=) | |
17 | g.74919678C>G | CA400961554 | USH1G | c.1158G>C (p.Glu386Asp) c.*757G>C (n.*757G>C) c.849G>C (p.Glu283Asp) | |
17 | g.74919678C>T | CA502036681 | USH1G | c.1158G>A (p.Glu386=) c.*757G>A (n.*757G>A) c.849G>A (p.Glu283=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919679T>A | CA400961555 | USH1G | c.1157A>T (p.Glu386Val) c.*756A>T (n.*756A>T) c.848A>T (p.Glu283Val) | |
17 | g.74919679T>C | CA400961557 | USH1G | c.1157A>G (p.Glu386Gly) c.*756A>G (n.*756A>G) c.848A>G (p.Glu283Gly) | gnomAD v4 |
17 | g.74919679T>G | CA400961556 | USH1G | c.1157A>C (p.Glu386Ala) c.*756A>C (n.*756A>C) c.848A>C (p.Glu283Ala) | |
17 | g.74919680C>A | CA400961558 | USH1G | c.1156G>T (p.Glu386Ter) c.*755G>T (n.*755G>T) c.847G>T (p.Glu283Ter) | |
17 | g.74919680C>G | CA400961559 | USH1G | c.1156G>C (p.Glu386Gln) c.*755G>C (n.*755G>C) c.847G>C (p.Glu283Gln) | gnomAD v4 |
17 | g.74919680C>T | CA400961560 | USH1G | c.1156G>A (p.Glu386Lys) c.*755G>A (n.*755G>A) c.847G>A (p.Glu283Lys) | |
17 | g.74919681C>A | CA502036687 | USH1G | c.1155G>T (p.Leu385=) c.*754G>T (n.*754G>T) c.846G>T (p.Leu282=) | |
17 | g.74919681C>G | CA502036688 | USH1G | c.1155G>C (p.Leu385=) c.*754G>C (n.*754G>C) c.846G>C (p.Leu282=) | |
17 | g.74919681C>T | CA502036689 | USH1G | c.1155G>A (p.Leu385=) c.*754G>A (n.*754G>A) c.846G>A (p.Leu282=) | gnomAD v4 |
17 | g.74919682A>C | CA400961561 | USH1G | c.1154T>G (p.Leu385Arg) c.*753T>G (n.*753T>G) c.845T>G (p.Leu282Arg) | |
17 | g.74919682A>G | CA400961562 | USH1G | c.1154T>C (p.Leu385Pro) c.*753T>C (n.*753T>C) c.845T>C (p.Leu282Pro) | gnomAD v4 |
17 | g.74919682A>T | CA400961563 | USH1G | c.1154T>A (p.Leu385Gln) c.*753T>A (n.*753T>A) c.845T>A (p.Leu282Gln) | |
17 | g.74919683G>A | CA502036693 | USH1G | c.1153C>T (p.Leu385=) c.*752C>T (n.*752C>T) c.844C>T (p.Leu282=) | gnomAD v4 |
17 | g.74919683G>C | CA400961564 | USH1G | c.1153C>G (p.Leu385Val) c.*752C>G (n.*752C>G) c.844C>G (p.Leu282Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919683G= | CA2275255207 | USH1G | c.1153C= (p.Leu385=) c.*752C= (n.*752C=) c.844C= (p.Leu282=) | |
17 | g.74919683G>T | CA293983567 | USH1G | c.1153C>A (p.Leu385Met) c.*752C>A (n.*752C>A) c.844C>A (p.Leu282Met) | dbSNP |
17 | g.74919684G>A | CA183405 | USH1G | c.1152C>T (p.Asp384=) c.*751C>T (n.*751C>T) c.843C>T (p.Asp281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919684G>C | CA400961565 | USH1G | c.1152C>G (p.Asp384Glu) c.*751C>G (n.*751C>G) c.843C>G (p.Asp281Glu) | |
17 | g.74919684G= | CA2275255208 | USH1G | c.1152C= (p.Asp384=) c.*751C= (n.*751C=) c.843C= (p.Asp281=) | |
17 | g.74919684G>T | CA400961566 | USH1G | c.1152C>A (p.Asp384Glu) c.*751C>A (n.*751C>A) c.843C>A (p.Asp281Glu) | |
17 | g.74919685T>A | CA400961569 | USH1G | c.1151A>T (p.Asp384Val) c.*750A>T (n.*750A>T) c.842A>T (p.Asp281Val) | |
17 | g.74919685T>C | CA400961568 | USH1G | c.1151A>G (p.Asp384Gly) c.*750A>G (n.*750A>G) c.842A>G (p.Asp281Gly) | |
17 | g.74919685T>G | CA400961567 | USH1G | c.1151A>C (p.Asp384Ala) c.*750A>C (n.*750A>C) c.842A>C (p.Asp281Ala) | |
17 | g.74919686C>A | CA400961570 | USH1G | c.1150G>T (p.Asp384Tyr) c.*749G>T (n.*749G>T) c.841G>T (p.Asp281Tyr) | dbSNP |
17 | g.74919686C= | CA2275255209 | USH1G | c.1150G= (p.Asp384=) c.*749G= (n.*749G=) c.841G= (p.Asp281=) | |
17 | g.74919686C>G | CA400961571 | USH1G | c.1150G>C (p.Asp384His) c.*749G>C (n.*749G>C) c.841G>C (p.Asp281His) | |
17 | g.74919686C>T | CA400961572 | USH1G | c.1150G>A (p.Asp384Asn) c.*749G>A (n.*749G>A) c.841G>A (p.Asp281Asn) | gnomAD v4 |
17 | g.74919687C>A | CA400961573 | USH1G | c.1149G>T (p.Glu383Asp) c.*748G>T (n.*748G>T) c.840G>T (p.Glu280Asp) | |
17 | g.74919687C= | CA2275255210 | USH1G | c.1149G= (p.Glu383=) c.*748G= (n.*748G=) c.840G= (p.Glu280=) | |
17 | g.74919687C>G | CA8753924 | USH1G | c.1149G>C (p.Glu383Asp) c.*748G>C (n.*748G>C) c.840G>C (p.Glu280Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919687C>T | CA8753925 | USH1G | c.1149G>A (p.Glu383=) c.*748G>A (n.*748G>A) c.840G>A (p.Glu280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919688T>A | CA8753926 | USH1G | c.1148A>T (p.Glu383Val) c.*747A>T (n.*747A>T) c.839A>T (p.Glu280Val) | dbSNP ExAC gnomAD v4 |
17 | g.74919688T>C | CA400961574 | USH1G | c.1148A>G (p.Glu383Gly) c.*747A>G (n.*747A>G) c.839A>G (p.Glu280Gly) | |
17 | g.74919688T>G | CA400961575 | USH1G | c.1148A>C (p.Glu383Ala) c.*747A>C (n.*747A>C) c.839A>C (p.Glu280Ala) | |
17 | g.74919688T= | CA2275255211 | USH1G | c.1148A= (p.Glu383=) c.*747A= (n.*747A=) c.839A= (p.Glu280=) | |
17 | g.74919689C>A | CA400961576 | USH1G | c.1147G>T (p.Glu383Ter) c.*746G>T (n.*746G>T) c.838G>T (p.Glu280Ter) | dbSNP |
17 | g.74919689C= | CA2275255212 | USH1G | c.1147G= (p.Glu383=) c.*746G= (n.*746G=) c.838G= (p.Glu280=) | |
17 | g.74919689C>G | CA400961577 | USH1G | c.1147G>C (p.Glu383Gln) c.*746G>C (n.*746G>C) c.838G>C (p.Glu280Gln) | |
17 | g.74919689C>T | CA400961578 | USH1G | c.1147G>A (p.Glu383Lys) c.*746G>A (n.*746G>A) c.838G>A (p.Glu280Lys) | gnomAD v4 |
17 | g.74919690G>A | CA8753927 | USH1G | c.1146C>T (p.Asp382=) c.*745C>T (n.*745C>T) c.837C>T (p.Asp279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919690G>C | CA400961580 | USH1G | c.1146C>G (p.Asp382Glu) c.*745C>G (n.*745C>G) c.837C>G (p.Asp279Glu) | gnomAD v4 |
17 | g.74919690G= | CA2275255213 | USH1G | c.1146C= (p.Asp382=) c.*745C= (n.*745C=) c.837C= (p.Asp279=) | |
17 | g.74919690G>T | CA400961579 | USH1G | c.1146C>A (p.Asp382Glu) c.*745C>A (n.*745C>A) c.837C>A (p.Asp279Glu) | gnomAD v4 |
17 | g.74919691T>A | CA400961581 | USH1G | c.1145A>T (p.Asp382Val) c.*744A>T (n.*744A>T) c.836A>T (p.Asp279Val) | COSMIC |
17 | g.74919691T>C | CA400961582 | USH1G | c.1145A>G (p.Asp382Gly) c.*744A>G (n.*744A>G) c.836A>G (p.Asp279Gly) | |
17 | g.74919691T>G | CA400961583 | USH1G | c.1145A>C (p.Asp382Ala) c.*744A>C (n.*744A>C) c.836A>C (p.Asp279Ala) | gnomAD v4 |
17 | g.74919692C>A | CA400961584 | USH1G | c.1144G>T (p.Asp382Tyr) c.*743G>T (n.*743G>T) c.835G>T (p.Asp279Tyr) | |
17 | g.74919692C>G | CA400961585 | USH1G | c.1144G>C (p.Asp382His) c.*743G>C (n.*743G>C) c.835G>C (p.Asp279His) | |
17 | g.74919692C>T | CA400961586 | USH1G | c.1144G>A (p.Asp382Asn) c.*743G>A (n.*743G>A) c.835G>A (p.Asp279Asn) | |
17 | g.74919693C>A | CA400961588 | USH1G | c.1143G>T (p.Leu381Phe) c.*742G>T (n.*742G>T) c.834G>T (p.Leu278Phe) | |
17 | g.74919693C= | CA2275255214 | USH1G | c.1143G= (p.Leu381=) c.*742G= (n.*742G=) c.834G= (p.Leu278=) | |
17 | g.74919693C>G | CA400961587 | USH1G | c.1143G>C (p.Leu381Phe) c.*742G>C (n.*742G>C) c.834G>C (p.Leu278Phe) | |
17 | g.74919693C>T | CA502036710 | USH1G | c.1143G>A (p.Leu381=) c.*742G>A (n.*742G>A) c.834G>A (p.Leu278=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919694A= | CA2275255215 | USH1G | c.1142T= (p.Leu381=) c.*741T= (n.*741T=) c.833T= (p.Leu278=) | |
17 | g.74919694A>C | CA400961589 | USH1G | c.1142T>G (p.Leu381Trp) c.*741T>G (n.*741T>G) c.833T>G (p.Leu278Trp) | |
17 | g.74919694A>G | CA400961590 | USH1G | c.1142T>C (p.Leu381Ser) c.*741T>C (n.*741T>C) c.833T>C (p.Leu278Ser) | ClinVar dbSNP gnomAD v4 |
17 | g.74919694A>T | CA400961591 | USH1G | c.1142T>A (p.Leu381Ter) c.*741T>A (n.*741T>A) c.833T>A (p.Leu278Ter) | |
17 | g.74919695A= | CA2275255216 | USH1G | c.1141T= (p.Leu381=) c.*740T= (n.*740T=) c.832T= (p.Leu278=) | |
17 | g.74919695A>C | CA400961592 | USH1G | c.1141T>G (p.Leu381Val) c.*740T>G (n.*740T>G) c.832T>G (p.Leu278Val) | |
17 | g.74919695A>G | CA8753928 | USH1G | c.1141T>C (p.Leu381=) c.*740T>C (n.*740T>C) c.832T>C (p.Leu278=) | dbSNP ExAC gnomAD v2 |
17 | g.74919695A>T | CA400961593 | USH1G | c.1141T>A (p.Leu381Met) c.*740T>A (n.*740T>A) c.832T>A (p.Leu278Met) | |
17 | g.74919696G>A | CA293983599 | USH1G | c.1140C>T (p.Gly380=) c.*739C>T (n.*739C>T) c.831C>T (p.Gly277=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919696G>C | CA502036713 | USH1G | c.1140C>G (p.Gly380=) c.*739C>G (n.*739C>G) c.831C>G (p.Gly277=) | |
17 | g.74919696G= | CA2275255217 | USH1G | c.1140C= (p.Gly380=) c.*739C= (n.*739C=) c.831C= (p.Gly277=) | |
17 | g.74919696G>T | CA502036715 | USH1G | c.1140C>A (p.Gly380=) c.*739C>A (n.*739C>A) c.831C>A (p.Gly277=) | |
17 | g.74919697C>A | CA400961594 | USH1G | c.1139G>T (p.Gly380Val) c.*738G>T (n.*738G>T) c.830G>T (p.Gly277Val) | |
17 | g.74919697C= | CA2275255218 | USH1G | c.1139G= (p.Gly380=) c.*738G= (n.*738G=) c.830G= (p.Gly277=) | |
17 | g.74919697C>G | CA293983603 | USH1G | c.1139G>C (p.Gly380Ala) c.*738G>C (n.*738G>C) c.830G>C (p.Gly277Ala) | dbSNP |
17 | g.74919697C>T | CA8753929 | USH1G | c.1139G>A (p.Gly380Asp) c.*738G>A (n.*738G>A) c.830G>A (p.Gly277Asp) | dbSNP ExAC gnomAD v2 |
17 | g.74919697_74919704del | CA2639747151 | USH1G | c.1132_1139del (p.Asp378LeufsTer10) c.*731_*738del (n.*731_*738del) c.823_830del (p.Asp275LeufsTer10) | gnomAD v4 |
17 | g.74919698C>A | CA400961595 | USH1G | c.1138G>T (p.Gly380Cys) c.*737G>T (n.*737G>T) c.829G>T (p.Gly277Cys) | |
17 | g.74919698C>G | CA400961596 | USH1G | c.1138G>C (p.Gly380Arg) c.*737G>C (n.*737G>C) c.829G>C (p.Gly277Arg) | |
17 | g.74919698C>T | CA400961597 | USH1G | c.1138G>A (p.Gly380Ser) c.*737G>A (n.*737G>A) c.829G>A (p.Gly277Ser) | |
17 | g.74919699T>A | CA400961598 | USH1G | c.1137A>T (p.Leu379Phe) c.*736A>T (n.*736A>T) c.828A>T (p.Leu276Phe) | gnomAD v4 |
17 | g.74919699T>C | CA502036724 | USH1G | c.1137A>G (p.Leu379=) c.*736A>G (n.*736A>G) c.828A>G (p.Leu276=) | |
17 | g.74919699T>G | CA400961599 | USH1G | c.1137A>C (p.Leu379Phe) c.*736A>C (n.*736A>C) c.828A>C (p.Leu276Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919699T= | CA2275255219 | USH1G | c.1137A= (p.Leu379=) c.*736A= (n.*736A=) c.828A= (p.Leu276=) | |
17 | g.74919700A= | CA2275255220 | USH1G | c.1136T= (p.Leu379=) c.*735T= (n.*735T=) c.827T= (p.Leu276=) | |
17 | g.74919700A>C | CA400961600 | USH1G | c.1136T>G (p.Leu379Ter) c.*735T>G (n.*735T>G) c.827T>G (p.Leu276Ter) | |
17 | g.74919700A>G | CA293983614 | USH1G | c.1136T>C (p.Leu379Ser) c.*735T>C (n.*735T>C) c.827T>C (p.Leu276Ser) | dbSNP gnomAD v4 COSMIC |
17 | g.74919700A>T | CA400961601 | USH1G | c.1136T>A (p.Leu379Ter) c.*735T>A (n.*735T>A) c.827T>A (p.Leu276Ter) | |
17 | g.74919701A>C | CA400961602 | USH1G | c.1135T>G (p.Leu379Val) c.*734T>G (n.*734T>G) c.826T>G (p.Leu276Val) | |
17 | g.74919701A>G | CA502036731 | USH1G | c.1135T>C (p.Leu379=) c.*734T>C (n.*734T>C) c.826T>C (p.Leu276=) | |
17 | g.74919701A>T | CA400961603 | USH1G | c.1135T>A (p.Leu379Ile) c.*734T>A (n.*734T>A) c.826T>A (p.Leu276Ile) | |
17 | g.74919702A>C | CA400961604 | USH1G | c.1134T>G (p.Asp378Glu) c.*733T>G (n.*733T>G) c.825T>G (p.Asp275Glu) | |
17 | g.74919702A>G | CA502036734 | USH1G | c.1134T>C (p.Asp378=) c.*733T>C (n.*733T>C) c.825T>C (p.Asp275=) | dbSNP |
17 | g.74919702A>T | CA400961605 | USH1G | c.1134T>A (p.Asp378Glu) c.*733T>A (n.*733T>A) c.825T>A (p.Asp275Glu) | |
17 | g.74919703T>A | CA400961608 | USH1G | c.1133A>T (p.Asp378Val) c.*732A>T (n.*732A>T) c.824A>T (p.Asp275Val) | |
17 | g.74919703T>C | CA400961607 | USH1G | c.1133A>G (p.Asp378Gly) c.*732A>G (n.*732A>G) c.824A>G (p.Asp275Gly) | |
17 | g.74919703T>G | CA400961606 | USH1G | c.1133A>C (p.Asp378Ala) c.*732A>C (n.*732A>C) c.824A>C (p.Asp275Ala) | |
17 | g.74919704C>A | CA400961609 | USH1G | c.1132G>T (p.Asp378Tyr) c.*731G>T (n.*731G>T) c.823G>T (p.Asp275Tyr) | |
17 | g.74919704C= | CA2275255221 | USH1G | c.1132G= (p.Asp378=) c.*731G= (n.*731G=) c.823G= (p.Asp275=) | |
17 | g.74919704C>G | CA8753930 | USH1G | c.1132G>C (p.Asp378His) c.*731G>C (n.*731G>C) c.823G>C (p.Asp275His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919704C>T | CA400961610 | USH1G | c.1132G>A (p.Asp378Asn) c.*731G>A (n.*731G>A) c.823G>A (p.Asp275Asn) | ClinVar dbSNP COSMIC |
17 | g.74919705G>A | CA502036739 | USH1G | c.1131C>T (p.Leu377=) c.*730C>T (n.*730C>T) c.822C>T (p.Leu274=) | |
17 | g.74919705G>C | CA502036741 | USH1G | c.1131C>G (p.Leu377=) c.*730C>G (n.*730C>G) c.822C>G (p.Leu274=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919705G= | CA2275255222 | USH1G | c.1131C= (p.Leu377=) c.*730C= (n.*730C=) c.822C= (p.Leu274=) | |
17 | g.74919705G>T | CA502036740 | USH1G | c.1131C>A (p.Leu377=) c.*730C>A (n.*730C>A) c.822C>A (p.Leu274=) | gnomAD v4 |
17 | g.74919706del | CA2639747154 | USH1G | c.1130del (p.Leu377ProfsTer3) c.*729del (n.*729del) c.821del (p.Leu274ProfsTer3) | gnomAD v4 |
17 | g.74919706A>C | CA400961611 | USH1G | c.1130T>G (p.Leu377Arg) c.*729T>G (n.*729T>G) c.821T>G (p.Leu274Arg) | |
17 | g.74919706A>G | CA400961613 | USH1G | c.1130T>C (p.Leu377Pro) c.*729T>C (n.*729T>C) c.821T>C (p.Leu274Pro) | |
17 | g.74919706A>T | CA400961612 | USH1G | c.1130T>A (p.Leu377His) c.*729T>A (n.*729T>A) c.821T>A (p.Leu274His) | |
17 | g.74919707G>A | CA400961614 | USH1G | c.1129C>T (p.Leu377Phe) c.*728C>T (n.*728C>T) c.820C>T (p.Leu274Phe) | |
17 | g.74919707G>C | CA400961616 | USH1G | c.1129C>G (p.Leu377Val) c.*728C>G (n.*728C>G) c.820C>G (p.Leu274Val) | gnomAD v4 |
17 | g.74919707G>T | CA400961615 | USH1G | c.1129C>A (p.Leu377Ile) c.*728C>A (n.*728C>A) c.820C>A (p.Leu274Ile) | dbSNP |
17 | g.74919707_74919708insGTTACAGTGATTGTGCCACTGCACTCCAGC | CA2810423892 | USH1G | c.1128_1129insGCTGGAGTGCAGTGGCACAATCACTGTAAC (p.Glu376_Leu377insAlaGlyValGlnTrpHisAsnHisCysAsn) c.*727_*728insGCTGGAGTGCAGTGGCACAATCACTGTAAC (n.*727_*728insGCTGGAGTGCAGTGGCACAATCACTGTAAC) c.819_820insGCTGGAGTGCAGTGGCACAATCACTGTAAC (p.Glu273_Leu274insAlaGlyValGlnTrpHisAsnHisCysAsn) | |
17 | g.74919708C>A | CA400961617 | USH1G | c.1128G>T (p.Glu376Asp) c.*727G>T (n.*727G>T) c.819G>T (p.Glu273Asp) | |
17 | g.74919708C= | CA2275255223 | USH1G | c.1128G= (p.Glu376=) c.*727G= (n.*727G=) c.819G= (p.Glu273=) | |
17 | g.74919708C>G | CA400961618 | USH1G | c.1128G>C (p.Glu376Asp) c.*727G>C (n.*727G>C) c.819G>C (p.Glu273Asp) | |
17 | g.74919708C>T | CA293983628 | USH1G | c.1128G>A (p.Glu376=) c.*727G>A (n.*727G>A) c.819G>A (p.Glu273=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919709T>A | CA400961619 | USH1G | c.1127A>T (p.Glu376Val) c.*726A>T (n.*726A>T) c.818A>T (p.Glu273Val) | |
17 | g.74919709T>C | CA400961620 | USH1G | c.1127A>G (p.Glu376Gly) c.*726A>G (n.*726A>G) c.818A>G (p.Glu273Gly) | |
17 | g.74919709T>G | CA400961621 | USH1G | c.1127A>C (p.Glu376Ala) c.*726A>C (n.*726A>C) c.818A>C (p.Glu273Ala) | |
17 | g.74919710C>A | CA400961622 | USH1G | c.1126G>T (p.Glu376Ter) c.*725G>T (n.*725G>T) c.817G>T (p.Glu273Ter) | |
17 | g.74919710C>G | CA400961623 | USH1G | c.1126G>C (p.Glu376Gln) c.*725G>C (n.*725G>C) c.817G>C (p.Glu273Gln) | |
17 | g.74919710C>T | CA400961624 | USH1G | c.1126G>A (p.Glu376Lys) c.*725G>A (n.*725G>A) c.817G>A (p.Glu273Lys) | |
17 | g.74919711A>C | CA400961625 | USH1G | c.1125T>G (p.Asp375Glu) c.*724T>G (n.*724T>G) c.816T>G (p.Asp272Glu) | gnomAD v4 |
17 | g.74919711A>G | CA502036756 | USH1G | c.1125T>C (p.Asp375=) c.*724T>C (n.*724T>C) c.816T>C (p.Asp272=) | gnomAD v4 |
17 | g.74919711A>T | CA400961626 | USH1G | c.1125T>A (p.Asp375Glu) c.*724T>A (n.*724T>A) c.816T>A (p.Asp272Glu) | |
17 | g.74919712T>A | CA400961629 | USH1G | c.1124A>T (p.Asp375Val) c.*723A>T (n.*723A>T) c.815A>T (p.Asp272Val) | |
17 | g.74919712T>C | CA400961627 | USH1G | c.1124A>G (p.Asp375Gly) c.*723A>G (n.*723A>G) c.815A>G (p.Asp272Gly) | gnomAD v4 |
17 | g.74919712T>G | CA400961628 | USH1G | c.1124A>C (p.Asp375Ala) c.*723A>C (n.*723A>C) c.815A>C (p.Asp272Ala) | |
17 | g.74919713C>A | CA400961630 | USH1G | c.1123G>T (p.Asp375Tyr) c.*722G>T (n.*722G>T) c.814G>T (p.Asp272Tyr) | |
17 | g.74919713C>G | CA400961631 | USH1G | c.1123G>C (p.Asp375His) c.*722G>C (n.*722G>C) c.814G>C (p.Asp272His) | |
17 | g.74919713C>T | CA400961632 | USH1G | c.1123G>A (p.Asp375Asn) c.*722G>A (n.*722G>A) c.814G>A (p.Asp272Asn) | |
17 | g.74919714C>A | CA400961633 | USH1G | c.1122G>T (p.Trp374Cys) c.*721G>T (n.*721G>T) c.813G>T (p.Trp271Cys) | |
17 | g.74919714C>G | CA400961634 | USH1G | c.1122G>C (p.Trp374Cys) c.*721G>C (n.*721G>C) c.813G>C (p.Trp271Cys) | |
17 | g.74919714C>T | CA400961636 | USH1G | c.1122G>A (p.Trp374Ter) c.*721G>A (n.*721G>A) c.813G>A (p.Trp271Ter) | |
17 | g.74919715C>A | CA400961638 | USH1G | c.1121G>T (p.Trp374Leu) c.*720G>T (n.*720G>T) c.812G>T (p.Trp271Leu) | |
17 | g.74919715C>G | CA400961640 | USH1G | c.1121G>C (p.Trp374Ser) c.*720G>C (n.*720G>C) c.812G>C (p.Trp271Ser) | |
17 | g.74919715C>T | CA400961641 | USH1G | c.1121G>A (p.Trp374Ter) c.*720G>A (n.*720G>A) c.812G>A (p.Trp271Ter) | |
17 | g.74919716A= | CA2275255224 | USH1G | c.1120T= (p.Trp374=) c.*719T= (n.*719T=) c.811T= (p.Trp271=) | |
17 | g.74919716A>C | CA400961646 | USH1G | c.1120T>G (p.Trp374Gly) c.*719T>G (n.*719T>G) c.811T>G (p.Trp271Gly) | dbSNP gnomAD v4 |
17 | g.74919716A>G | CA400961647 | USH1G | c.1120T>C (p.Trp374Arg) c.*719T>C (n.*719T>C) c.811T>C (p.Trp271Arg) | |
17 | g.74919716A>T | CA400961644 | USH1G | c.1120T>A (p.Trp374Arg) c.*719T>A (n.*719T>A) c.811T>A (p.Trp271Arg) | |
17 | g.74919717G>A | CA502036763 | USH1G | c.1119C>T (p.Pro373=) c.*718C>T (n.*718C>T) c.810C>T (p.Pro270=) | |
17 | g.74919717G>C | CA502036765 | USH1G | c.1119C>G (p.Pro373=) c.*718C>G (n.*718C>G) c.810C>G (p.Pro270=) | dbSNP gnomAD v4 |
17 | g.74919717G= | CA2275255225 | USH1G | c.1119C= (p.Pro373=) c.*718C= (n.*718C=) c.810C= (p.Pro270=) | |
17 | g.74919717G>T | CA502036766 | USH1G | c.1119C>A (p.Pro373=) c.*718C>A (n.*718C>A) c.810C>A (p.Pro270=) | gnomAD v4 COSMIC |
17 | g.74919718G>A | CA293983645 | USH1G | c.1118C>T (p.Pro373Leu) c.*717C>T (n.*717C>T) c.809C>T (p.Pro270Leu) | dbSNP gnomAD v4 |
17 | g.74919718G>C | CA400961650 | USH1G | c.1118C>G (p.Pro373Arg) c.*717C>G (n.*717C>G) c.809C>G (p.Pro270Arg) | dbSNP |
17 | g.74919718G= | CA2275255226 | USH1G | c.1118C= (p.Pro373=) c.*717C= (n.*717C=) c.809C= (p.Pro270=) | |
17 | g.74919718G>T | CA400961651 | USH1G | c.1118C>A (p.Pro373His) c.*717C>A (n.*717C>A) c.809C>A (p.Pro270His) | |
17 | g.74919719G>A | CA293983652 | USH1G | c.1117C>T (p.Pro373Ser) c.*716C>T (n.*716C>T) c.808C>T (p.Pro270Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919719G>C | CA400961652 | USH1G | c.1117C>G (p.Pro373Ala) c.*716C>G (n.*716C>G) c.808C>G (p.Pro270Ala) | |
17 | g.74919719G= | CA2275255227 | USH1G | c.1117C= (p.Pro373=) c.*716C= (n.*716C=) c.808C= (p.Pro270=) | |
17 | g.74919719G>T | CA400961654 | USH1G | c.1117C>A (p.Pro373Thr) c.*716C>A (n.*716C>A) c.808C>A (p.Pro270Thr) | |
17 | g.74919720C>A | CA502036772 | USH1G | c.1116G>T (p.Leu372=) c.*715G>T (n.*715G>T) c.807G>T (p.Leu269=) | gnomAD v4 |
17 | g.74919720C= | CA2275255228 | USH1G | c.1116G= (p.Leu372=) c.*715G= (n.*715G=) c.807G= (p.Leu269=) | |
17 | g.74919720C>G | CA502036773 | USH1G | c.1116G>C (p.Leu372=) c.*715G>C (n.*715G>C) c.807G>C (p.Leu269=) | |
17 | g.74919720C>T | CA502036775 | USH1G | c.1116G>A (p.Leu372=) c.*715G>A (n.*715G>A) c.807G>A (p.Leu269=) | dbSNP gnomAD v4 |
17 | g.74919721A>C | CA400961656 | USH1G | c.1115T>G (p.Leu372Arg) c.*714T>G (n.*714T>G) c.806T>G (p.Leu269Arg) | |
17 | g.74919721A>G | CA400961660 | USH1G | c.1115T>C (p.Leu372Pro) c.*714T>C (n.*714T>C) c.806T>C (p.Leu269Pro) | |
17 | g.74919721A>T | CA400961658 | USH1G | c.1115T>A (p.Leu372Gln) c.*714T>A (n.*714T>A) c.806T>A (p.Leu269Gln) | |
17 | g.74919722G>A | CA502036779 | USH1G | c.1114C>T (p.Leu372=) c.*713C>T (n.*713C>T) c.805C>T (p.Leu269=) | gnomAD v4 |
17 | g.74919722G>C | CA400961662 | USH1G | c.1114C>G (p.Leu372Val) c.*713C>G (n.*713C>G) c.805C>G (p.Leu269Val) | |
17 | g.74919722G>T | CA400961663 | USH1G | c.1114C>A (p.Leu372Met) c.*713C>A (n.*713C>A) c.805C>A (p.Leu269Met) | |
17 | g.74919723C>A | CA400961665 | USH1G | c.1113G>T (p.Glu371Asp) c.*712G>T (n.*712G>T) c.804G>T (p.Glu268Asp) | |
17 | g.74919723C= | CA2275255229 | USH1G | c.1113G= (p.Glu371=) c.*712G= (n.*712G=) c.804G= (p.Glu268=) | |
17 | g.74919723C>G | CA400961667 | USH1G | c.1113G>C (p.Glu371Asp) c.*712G>C (n.*712G>C) c.804G>C (p.Glu268Asp) | |
17 | g.74919723C>T | CA502036782 | USH1G | c.1113G>A (p.Glu371=) c.*712G>A (n.*712G>A) c.804G>A (p.Glu268=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919724T>A | CA400961669 | USH1G | c.1112A>T (p.Glu371Val) c.*711A>T (n.*711A>T) c.803A>T (p.Glu268Val) | |
17 | g.74919724T>C | CA400961673 | USH1G | c.1112A>G (p.Glu371Gly) c.*711A>G (n.*711A>G) c.803A>G (p.Glu268Gly) | |
17 | g.74919724T>G | CA400961671 | USH1G | c.1112A>C (p.Glu371Ala) c.*711A>C (n.*711A>C) c.803A>C (p.Glu268Ala) | |
17 | g.74919725C>A | CA400961675 | USH1G | c.1111G>T (p.Glu371Ter) c.*710G>T (n.*710G>T) c.802G>T (p.Glu268Ter) | |
17 | g.74919725C= | CA2275255230 | USH1G | c.1111G= (p.Glu371=) c.*710G= (n.*710G=) c.802G= (p.Glu268=) | |
17 | g.74919725C>G | CA400961676 | USH1G | c.1111G>C (p.Glu371Gln) c.*710G>C (n.*710G>C) c.802G>C (p.Glu268Gln) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919725C>T | CA400961678 | USH1G | c.1111G>A (p.Glu371Lys) c.*710G>A (n.*710G>A) c.802G>A (p.Glu268Lys) | |
17 | g.74919726C>A | CA400961680 | USH1G | c.1110G>T (p.Glu370Asp) c.*709G>T (n.*709G>T) c.801G>T (p.Glu267Asp) | |
17 | g.74919726C= | CA2275255231 | USH1G | c.1110G= (p.Glu370=) c.*709G= (n.*709G=) c.801G= (p.Glu267=) | |
17 | g.74919726C>G | CA400961682 | USH1G | c.1110G>C (p.Glu370Asp) c.*709G>C (n.*709G>C) c.801G>C (p.Glu267Asp) | ClinVar dbSNP gnomAD v4 |
17 | g.74919726C>T | CA502036788 | USH1G | c.1110G>A (p.Glu370=) c.*709G>A (n.*709G>A) c.801G>A (p.Glu267=) | |
17 | g.74919727T>A | CA400961684 | USH1G | c.1109A>T (p.Glu370Val) c.*708A>T (n.*708A>T) c.800A>T (p.Glu267Val) | |
17 | g.74919727T>C | CA400961686 | USH1G | c.1109A>G (p.Glu370Gly) c.*708A>G (n.*708A>G) c.800A>G (p.Glu267Gly) | |
17 | g.74919727T>G | CA400961688 | USH1G | c.1109A>C (p.Glu370Ala) c.*708A>C (n.*708A>C) c.800A>C (p.Glu267Ala) | |
17 | g.74919728C>A | CA400961690 | USH1G | c.1108G>T (p.Glu370Ter) c.*707G>T (n.*707G>T) c.799G>T (p.Glu267Ter) | |
17 | g.74919728C= | CA2275255232 | USH1G | c.1108G= (p.Glu370=) c.*707G= (n.*707G=) c.799G= (p.Glu267=) | |
17 | g.74919728C>G | CA400961691 | USH1G | c.1108G>C (p.Glu370Gln) c.*707G>C (n.*707G>C) c.799G>C (p.Glu267Gln) | |
17 | g.74919728C>T | CA400961693 | USH1G | c.1108G>A (p.Glu370Lys) c.*707G>A (n.*707G>A) c.799G>A (p.Glu267Lys) | dbSNP |
17 | g.74919729C>A | CA502036795 | USH1G | c.1107G>T (p.Gly369=) c.*706G>T (n.*706G>T) c.798G>T (p.Gly266=) | |
17 | g.74919729C>G | CA502036796 | USH1G | c.1107G>C (p.Gly369=) c.*706G>C (n.*706G>C) c.798G>C (p.Gly266=) | |
17 | g.74919729C>T | CA502036799 | USH1G | c.1107G>A (p.Gly369=) c.*706G>A (n.*706G>A) c.798G>A (p.Gly266=) | |
17 | g.74919730C>A | CA400961695 | USH1G | c.1106G>T (p.Gly369Val) c.*705G>T (n.*705G>T) c.797G>T (p.Gly266Val) | gnomAD v4 |
17 | g.74919730C>G | CA400961697 | USH1G | c.1106G>C (p.Gly369Ala) c.*705G>C (n.*705G>C) c.797G>C (p.Gly266Ala) | |
17 | g.74919730C>T | CA400961694 | USH1G | c.1106G>A (p.Gly369Glu) c.*705G>A (n.*705G>A) c.797G>A (p.Gly266Glu) | |
17 | g.74919731C>A | CA400961702 | USH1G | c.1105G>T (p.Gly369Trp) c.*704G>T (n.*704G>T) c.796G>T (p.Gly266Trp) | gnomAD v4 |
17 | g.74919731C= | CA2275255233 | USH1G | c.1105G= (p.Gly369=) c.*704G= (n.*704G=) c.796G= (p.Gly266=) | |
17 | g.74919731C>G | CA400961698 | USH1G | c.1105G>C (p.Gly369Arg) c.*704G>C (n.*704G>C) c.796G>C (p.Gly266Arg) | |
17 | g.74919731C>T | CA400961700 | USH1G | c.1105G>A (p.Gly369Arg) c.*704G>A (n.*704G>A) c.796G>A (p.Gly266Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919732A>C | CA400961705 | USH1G | c.1104T>G (p.Cys368Trp) c.*703T>G (n.*703T>G) c.795T>G (p.Cys265Trp) | |
17 | g.74919732A>G | CA502036808 | USH1G | c.1104T>C (p.Cys368=) c.*703T>C (n.*703T>C) c.795T>C (p.Cys265=) | |
17 | g.74919732A>T | CA400961707 | USH1G | c.1104T>A (p.Cys368Ter) c.*703T>A (n.*703T>A) c.795T>A (p.Cys265Ter) | |
17 | g.74919733C>A | CA400961709 | USH1G | c.1103G>T (p.Cys368Phe) c.*702G>T (n.*702G>T) c.794G>T (p.Cys265Phe) | |
17 | g.74919733C= | CA2275255234 | USH1G | c.1103G= (p.Cys368=) c.*702G= (n.*702G=) c.794G= (p.Cys265=) | |
17 | g.74919733C>G | CA400961711 | USH1G | c.1103G>C (p.Cys368Ser) c.*702G>C (n.*702G>C) c.794G>C (p.Cys265Ser) | |
17 | g.74919733C>T | CA400961713 | USH1G | c.1103G>A (p.Cys368Tyr) c.*702G>A (n.*702G>A) c.794G>A (p.Cys265Tyr) | ClinVar dbSNP |
17 | g.74919734A>C | CA400961716 | USH1G | c.1102T>G (p.Cys368Gly) c.*701T>G (n.*701T>G) c.793T>G (p.Cys265Gly) | |
17 | g.74919734A>G | CA400961718 | USH1G | c.1102T>C (p.Cys368Arg) c.*701T>C (n.*701T>C) c.793T>C (p.Cys265Arg) | |
17 | g.74919734A>T | CA400961720 | USH1G | c.1102T>A (p.Cys368Ser) c.*701T>A (n.*701T>A) c.793T>A (p.Cys265Ser) | |
17 | g.74919735G>A | CA502036821 | USH1G | c.1101C>T (p.Ser367=) c.*700C>T (n.*700C>T) c.792C>T (p.Ser264=) | |
17 | g.74919735G>C | CA400961723 | USH1G | c.1101C>G (p.Ser367Arg) c.*700C>G (n.*700C>G) c.792C>G (p.Ser264Arg) | |
17 | g.74919735G>T | CA400961725 | USH1G | c.1101C>A (p.Ser367Arg) c.*700C>A (n.*700C>A) c.792C>A (p.Ser264Arg) | |
17 | g.74919736C>A | CA400961730 | USH1G | c.1100G>T (p.Ser367Ile) c.*699G>T (n.*699G>T) c.791G>T (p.Ser264Ile) | |
17 | g.74919736C>G | CA400961726 | USH1G | c.1100G>C (p.Ser367Thr) c.*699G>C (n.*699G>C) c.791G>C (p.Ser264Thr) | |
17 | g.74919736C>T | CA400961727 | USH1G | c.1100G>A (p.Ser367Asn) c.*699G>A (n.*699G>A) c.791G>A (p.Ser264Asn) | |
17 | g.74919737T>A | CA400961732 | USH1G | c.1099A>T (p.Ser367Cys) c.*698A>T (n.*698A>T) c.790A>T (p.Ser264Cys) | |
17 | g.74919737T>C | CA400961734 | USH1G | c.1099A>G (p.Ser367Gly) c.*698A>G (n.*698A>G) c.790A>G (p.Ser264Gly) | |
17 | g.74919737T>G | CA400961736 | USH1G | c.1099A>C (p.Ser367Arg) c.*698A>C (n.*698A>C) c.790A>C (p.Ser264Arg) | |
17 | g.74919738G>A | CA502036827 | USH1G | c.1098C>T (p.Arg366=) c.*697C>T (n.*697C>T) c.789C>T (p.Arg263=) | |
17 | g.74919738G>C | CA502036828 | USH1G | c.1098C>G (p.Arg366=) c.*697C>G (n.*697C>G) c.789C>G (p.Arg263=) | |
17 | g.74919738G>T | CA502036829 | USH1G | c.1098C>A (p.Arg366=) c.*697C>A (n.*697C>A) c.789C>A (p.Arg263=) | |
17 | g.74919739C>A | CA400961738 | USH1G | c.1097G>T (p.Arg366Leu) c.*696G>T (n.*696G>T) c.788G>T (p.Arg263Leu) | |
17 | g.74919739C= | CA2275255235 | USH1G | c.1097G= (p.Arg366=) c.*696G= (n.*696G=) c.788G= (p.Arg263=) | |
17 | g.74919739C>G | CA400961740 | USH1G | c.1097G>C (p.Arg366Pro) c.*696G>C (n.*696G>C) c.788G>C (p.Arg263Pro) | |
17 | g.74919739C>T | CA400961742 | USH1G | c.1097G>A (p.Arg366His) c.*696G>A (n.*696G>A) c.788G>A (p.Arg263His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919740G>A | CA400961745 | USH1G | c.1096C>T (p.Arg366Cys) c.*695C>T (n.*695C>T) c.787C>T (p.Arg263Cys) | |
17 | g.74919740G>C | CA400961746 | USH1G | c.1096C>G (p.Arg366Gly) c.*695C>G (n.*695C>G) c.787C>G (p.Arg263Gly) | dbSNP |
17 | g.74919740G= | CA2275255236 | USH1G | c.1096C= (p.Arg366=) c.*695C= (n.*695C=) c.787C= (p.Arg263=) | |
17 | g.74919740G>T | CA400961748 | USH1G | c.1096C>A (p.Arg366Ser) c.*695C>A (n.*695C>A) c.787C>A (p.Arg263Ser) | gnomAD v4 |
17 | g.74919741G>A | CA502036834 | USH1G | c.1095C>T (p.Asp365=) c.*694C>T (n.*694C>T) c.786C>T (p.Asp262=) | gnomAD v4 |
17 | g.74919741G>C | CA400961751 | USH1G | c.1095C>G (p.Asp365Glu) c.*694C>G (n.*694C>G) c.786C>G (p.Asp262Glu) | gnomAD v4 |
17 | g.74919741G>T | CA400961752 | USH1G | c.1095C>A (p.Asp365Glu) c.*694C>A (n.*694C>A) c.786C>A (p.Asp262Glu) | |
17 | g.74919742T>A | CA400961757 | USH1G | c.1094A>T (p.Asp365Val) c.*693A>T (n.*693A>T) c.785A>T (p.Asp262Val) | gnomAD v4 |
17 | g.74919742T>C | CA400961759 | USH1G | c.1094A>G (p.Asp365Gly) c.*693A>G (n.*693A>G) c.785A>G (p.Asp262Gly) | |
17 | g.74919742T>G | CA400961755 | USH1G | c.1094A>C (p.Asp365Ala) c.*693A>C (n.*693A>C) c.785A>C (p.Asp262Ala) | |
17 | g.74919743C>A | CA400961761 | USH1G | c.1093G>T (p.Asp365Tyr) c.*692G>T (n.*692G>T) c.784G>T (p.Asp262Tyr) | |
17 | g.74919743C= | CA2275255237 | USH1G | c.1093G= (p.Asp365=) c.*692G= (n.*692G=) c.784G= (p.Asp262=) | |
17 | g.74919743C>G | CA400961762 | USH1G | c.1093G>C (p.Asp365His) c.*692G>C (n.*692G>C) c.784G>C (p.Asp262His) | |
17 | g.74919743C>T | CA8753931 | USH1G | c.1093G>A (p.Asp365Asn) c.*692G>A (n.*692G>A) c.784G>A (p.Asp262Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919744C>A | CA400961766 | USH1G | c.1092G>T (p.Gln364His) c.*691G>T (n.*691G>T) c.783G>T (p.Gln261His) | |
17 | g.74919744C= | CA2275255238 | USH1G | c.1092G= (p.Gln364=) c.*691G= (n.*691G=) c.783G= (p.Gln261=) | |
17 | g.74919744C>G | CA400961767 | USH1G | c.1092G>C (p.Gln364His) c.*691G>C (n.*691G>C) c.783G>C (p.Gln261His) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919744C>T | CA502036848 | USH1G | c.1092G>A (p.Gln364=) c.*691G>A (n.*691G>A) c.783G>A (p.Gln261=) | |
17 | g.74919745T>A | CA400961770 | USH1G | c.1091A>T (p.Gln364Leu) c.*690A>T (n.*690A>T) c.782A>T (p.Gln261Leu) | |
17 | g.74919745T>C | CA400961771 | USH1G | c.1091A>G (p.Gln364Arg) c.*690A>G (n.*690A>G) c.782A>G (p.Gln261Arg) | gnomAD v4 |
17 | g.74919745T>G | CA400961772 | USH1G | c.1091A>C (p.Gln364Pro) c.*690A>C (n.*690A>C) c.782A>C (p.Gln261Pro) | |
17 | g.74919746G>A | CA400961773 | USH1G | c.1090C>T (p.Gln364Ter) c.*689C>T (n.*689C>T) c.781C>T (p.Gln261Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919746G>C | CA400961775 | USH1G | c.1090C>G (p.Gln364Glu) c.*689C>G (n.*689C>G) c.781C>G (p.Gln261Glu) | |
17 | g.74919746G= | CA2275255239 | USH1G | c.1090C= (p.Gln364=) c.*689C= (n.*689C=) c.781C= (p.Gln261=) | |
17 | g.74919746G>T | CA400961777 | USH1G | c.1090C>A (p.Gln364Lys) c.*689C>A (n.*689C>A) c.781C>A (p.Gln261Lys) | gnomAD v4 |
17 | g.74919747C>A | CA502036853 | USH1G | c.1089G>T (p.Leu363=) c.*688G>T (n.*688G>T) c.780G>T (p.Leu260=) | |
17 | g.74919747C= | CA2275255240 | USH1G | c.1089G= (p.Leu363=) c.*688G= (n.*688G=) c.780G= (p.Leu260=) | |
17 | g.74919747C>G | CA502036854 | USH1G | c.1089G>C (p.Leu363=) c.*688G>C (n.*688G>C) c.780G>C (p.Leu260=) | dbSNP gnomAD v4 |
17 | g.74919747C>T | CA502036855 | USH1G | c.1089G>A (p.Leu363=) c.*688G>A (n.*688G>A) c.780G>A (p.Leu260=) | |
17 | g.74919748A>C | CA400961779 | USH1G | c.1088T>G (p.Leu363Arg) c.*687T>G (n.*687T>G) c.779T>G (p.Leu260Arg) | |
17 | g.74919748A>G | CA400961781 | USH1G | c.1088T>C (p.Leu363Pro) c.*687T>C (n.*687T>C) c.779T>C (p.Leu260Pro) | |
17 | g.74919748A>T | CA400961783 | USH1G | c.1088T>A (p.Leu363Gln) c.*687T>A (n.*687T>A) c.779T>A (p.Leu260Gln) | |
17 | g.74919749G>A | CA502036859 | USH1G | c.1087C>T (p.Leu363=) c.*686C>T (n.*686C>T) c.778C>T (p.Leu260=) | COSMIC |
17 | g.74919749G>C | CA400961784 | USH1G | c.1087C>G (p.Leu363Val) c.*686C>G (n.*686C>G) c.778C>G (p.Leu260Val) | |
17 | g.74919749G= | CA2275255241 | USH1G | c.1087C= (p.Leu363=) c.*686C= (n.*686C=) c.778C= (p.Leu260=) | |
17 | g.74919749G>T | CA293983674 | USH1G | c.1087C>A (p.Leu363Met) c.*686C>A (n.*686C>A) c.778C>A (p.Leu260Met) | dbSNP |
17 | g.74919750G>A | CA8753932 | USH1G | c.1086C>T (p.Ser362=) c.*685C>T (n.*685C>T) c.777C>T (p.Ser259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919750G>C | CA400961788 | USH1G | c.1086C>G (p.Ser362Arg) c.*685C>G (n.*685C>G) c.777C>G (p.Ser259Arg) | |
17 | g.74919750G= | CA2275255242 | USH1G | c.1086C= (p.Ser362=) c.*685C= (n.*685C=) c.777C= (p.Ser259=) | |
17 | g.74919750G>T | CA400961791 | USH1G | c.1086C>A (p.Ser362Arg) c.*685C>A (n.*685C>A) c.777C>A (p.Ser259Arg) | |
17 | g.74919751C>A | CA8753933 | USH1G | c.1085G>T (p.Ser362Ile) c.*684G>T (n.*684G>T) c.776G>T (p.Ser259Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919751C= | CA2275255243 | USH1G | c.1085G= (p.Ser362=) c.*684G= (n.*684G=) c.776G= (p.Ser259=) | |
17 | g.74919751C>G | CA400961794 | USH1G | c.1085G>C (p.Ser362Thr) c.*684G>C (n.*684G>C) c.776G>C (p.Ser259Thr) | |
17 | g.74919751C>T | CA400961796 | USH1G | c.1085G>A (p.Ser362Asn) c.*684G>A (n.*684G>A) c.776G>A (p.Ser259Asn) | |
17 | g.74919752T>A | CA400961798 | USH1G | c.1084A>T (p.Ser362Cys) c.*683A>T (n.*683A>T) c.775A>T (p.Ser259Cys) | |
17 | g.74919752T>C | CA400961800 | USH1G | c.1084A>G (p.Ser362Gly) c.*683A>G (n.*683A>G) c.775A>G (p.Ser259Gly) | |
17 | g.74919752T>G | CA400961802 | USH1G | c.1084A>C (p.Ser362Arg) c.*683A>C (n.*683A>C) c.775A>C (p.Ser259Arg) | |
17 | g.74919753G>A | CA502036866 | USH1G | c.1083C>T (p.Asn361=) c.*682C>T (n.*682C>T) c.774C>T (p.Asn258=) | |
17 | g.74919753G>C | CA400961804 | USH1G | c.1083C>G (p.Asn361Lys) c.*682C>G (n.*682C>G) c.774C>G (p.Asn258Lys) | |
17 | g.74919753G>T | CA400961806 | USH1G | c.1083C>A (p.Asn361Lys) c.*682C>A (n.*682C>A) c.774C>A (p.Asn258Lys) | |
17 | g.74919754T>A | CA400961808 | USH1G | c.1082A>T (p.Asn361Ile) c.*681A>T (n.*681A>T) c.773A>T (p.Asn258Ile) | |
17 | g.74919754T>C | CA8753934 | USH1G | c.1082A>G (p.Asn361Ser) c.*681A>G (n.*681A>G) c.773A>G (p.Asn258Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919754T>G | CA8753935 | USH1G | c.1082A>C (p.Asn361Thr) c.*681A>C (n.*681A>C) c.773A>C (p.Asn258Thr) | dbSNP ExAC gnomAD v2 |
17 | g.74919754T= | CA2275255244 | USH1G | c.1082A= (p.Asn361=) c.*681A= (n.*681A=) c.773A= (p.Asn258=) | |
17 | g.74919755T>A | CA400961814 | USH1G | c.1081A>T (p.Asn361Tyr) c.*680A>T (n.*680A>T) c.772A>T (p.Asn258Tyr) | gnomAD v4 |
17 | g.74919755T>C | CA400961816 | USH1G | c.1081A>G (p.Asn361Asp) c.*680A>G (n.*680A>G) c.772A>G (p.Asn258Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919755T>G | CA400961812 | USH1G | c.1081A>C (p.Asn361His) c.*680A>C (n.*680A>C) c.772A>C (p.Asn258His) | |
17 | g.74919755T= | CA2275255245 | USH1G | c.1081A= (p.Asn361=) c.*680A= (n.*680A=) c.772A= (p.Asn258=) | |
17 | g.74919756G>A | CA502036879 | USH1G | c.1080C>T (p.Ala360=) c.*679C>T (n.*679C>T) c.771C>T (p.Ala257=) | |
17 | g.74919756G>C | CA502036880 | USH1G | c.1080C>G (p.Ala360=) c.*679C>G (n.*679C>G) c.771C>G (p.Ala257=) | |
17 | g.74919756G>T | CA502036881 | USH1G | c.1080C>A (p.Ala360=) c.*679C>A (n.*679C>A) c.771C>A (p.Ala257=) | |
17 | g.74919756_74919773dup | CA2639747161 | USH1G | c.1063_1080dup (p.Ala360_Asn361insAspSerLeuGlySerAla) c.*662_*679dup (n.*662_*679dup) c.754_771dup (p.Ala257_Asn258insAspSerLeuGlySerAla) | gnomAD v4 |
17 | g.74919757G>A | CA8753936 | USH1G | c.1079C>T (p.Ala360Val) c.*678C>T (n.*678C>T) c.770C>T (p.Ala257Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919757G>C | CA400961817 | USH1G | c.1079C>G (p.Ala360Gly) c.*678C>G (n.*678C>G) c.770C>G (p.Ala257Gly) | |
17 | g.74919757G= | CA2275255246 | USH1G | c.1079C= (p.Ala360=) c.*678C= (n.*678C=) c.770C= (p.Ala257=) | |
17 | g.74919757G>T | CA400961819 | USH1G | c.1079C>A (p.Ala360Asp) c.*678C>A (n.*678C>A) c.770C>A (p.Ala257Asp) | |
17 | g.74919758C>A | CA400961823 | USH1G | c.1078G>T (p.Ala360Ser) c.*677G>T (n.*677G>T) c.769G>T (p.Ala257Ser) | |
17 | g.74919758C>G | CA400961825 | USH1G | c.1078G>C (p.Ala360Pro) c.*677G>C (n.*677G>C) c.769G>C (p.Ala257Pro) | |
17 | g.74919758C>T | CA400961826 | USH1G | c.1078G>A (p.Ala360Thr) c.*677G>A (n.*677G>A) c.769G>A (p.Ala257Thr) | |
17 | g.74919759A= | CA2275255247 | USH1G | c.1077T= (p.Ser359=) c.*676T= (n.*676T=) c.768T= (p.Ser256=) | |
17 | g.74919759A>C | CA400961829 | USH1G | c.1077T>G (p.Ser359Arg) c.*676T>G (n.*676T>G) c.768T>G (p.Ser256Arg) | |
17 | g.74919759A>G | CA8753937 | USH1G | c.1077T>C (p.Ser359=) c.*676T>C (n.*676T>C) c.768T>C (p.Ser256=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919759A>T | CA400961832 | USH1G | c.1077T>A (p.Ser359Arg) c.*676T>A (n.*676T>A) c.768T>A (p.Ser256Arg) | |
17 | g.74919760C>A | CA400961834 | USH1G | c.1076G>T (p.Ser359Ile) c.*675G>T (n.*675G>T) c.767G>T (p.Ser256Ile) | |
17 | g.74919760C= | CA2275255248 | USH1G | c.1076G= (p.Ser359=) c.*675G= (n.*675G=) c.767G= (p.Ser256=) | |
17 | g.74919760C>G | CA400961837 | USH1G | c.1076G>C (p.Ser359Thr) c.*675G>C (n.*675G>C) c.767G>C (p.Ser256Thr) | ClinVar dbSNP |
17 | g.74919760C>T | CA8753938 | USH1G | c.1076G>A (p.Ser359Asn) c.*675G>A (n.*675G>A) c.767G>A (p.Ser256Asn) | dbSNP ExAC gnomAD v4 |