| 1 | g.216324306A= | CA1220652480 | USH2A | c.1190T= (p.Ile397=)
| |
| 1 | g.216324306A>C | CA344911959 | USH2A | c.1190T>G (p.Ile397Arg)
| |
| 1 | g.216324306A>G | CA344911961 | USH2A | c.1190T>C (p.Ile397Thr)
| dbSNP |
| 1 | g.216324306A>T | CA344911963 | USH2A | c.1190T>A (p.Ile397Lys)
| ClinVar dbSNP |
| 1 | g.216324307T>A | CA344911965 | USH2A | c.1189A>T (p.Ile397Leu)
| |
| 1 | g.216324307T>C | CA37898345 | USH2A | c.1189A>G (p.Ile397Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216324307T>G | CA344911968 | USH2A | c.1189A>C (p.Ile397Leu)
| |
| 1 | g.216324307T= | CA1220652481 | USH2A | c.1189A= (p.Ile397=)
| |
| 1 | g.216324308T>A | CA344911972 | USH2A | c.1188A>T (p.Glu396Asp)
| |
| 1 | g.216324308T>C | CA423397898 | USH2A | c.1188A>G (p.Glu396=)
| |
| 1 | g.216324308T>G | CA344911974 | USH2A | c.1188A>C (p.Glu396Asp)
| |
| 1 | g.216324309T>A | CA344911982 | USH2A | c.1187A>T (p.Glu396Val)
| |
| 1 | g.216324309T>C | CA344911979 | USH2A | c.1187A>G (p.Glu396Gly)
| |
| 1 | g.216324309T>G | CA344911976 | USH2A | c.1187A>C (p.Glu396Ala)
| |
| 1 | g.216324310C>A | CA344911985 | USH2A | c.1186G>T (p.Glu396Ter)
| |
| 1 | g.216324310C>G | CA344911987 | USH2A | c.1186G>C (p.Glu396Gln)
| |
| 1 | g.216324310C>T | CA344911989 | USH2A | c.1186G>A (p.Glu396Lys)
| COSMIC COSMIC COSMIC |
| 1 | g.216324311C>A | CA423397899 | USH2A | c.1185G>T (p.Thr395=)
| |
| 1 | g.216324311C= | CA1220652482 | USH2A | c.1185G= (p.Thr395=)
| |
| 1 | g.216324311C>G | CA423397900 | USH2A | c.1185G>C (p.Thr395=)
| |
| 1 | g.216324311C>T | CA37898347 | USH2A | c.1185G>A (p.Thr395=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216324312G>A | CA1396579 | USH2A | c.1184C>T (p.Thr395Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324312G>C | CA344911995 | USH2A | c.1184C>G (p.Thr395Arg)
| |
| 1 | g.216324312G= | CA1142125457 | USH2A | c.1184C= (p.Thr395=)
| |
| 1 | g.216324312G>T | CA344911998 | USH2A | c.1184C>A (p.Thr395Lys)
| |
| 1 | g.216324313T>A | CA344912001 | USH2A | c.1183A>T (p.Thr395Ser)
| |
| 1 | g.216324313T>C | CA37898351 | USH2A | c.1183A>G (p.Thr395Ala)
| dbSNP gnomAD v4 |
| 1 | g.216324313T>G | CA344912006 | USH2A | c.1183A>C (p.Thr395Pro)
| |
| 1 | g.216324313T= | CA1220652483 | USH2A | c.1183A= (p.Thr395=)
| |
| 1 | g.216324314T>A | CA423397901 | USH2A | c.1182A>T (p.Pro394=)
| |
| 1 | g.216324314T>C | CA423397902 | USH2A | c.1182A>G (p.Pro394=)
| |
| 1 | g.216324314T>G | CA423397903 | USH2A | c.1182A>C (p.Pro394=)
| |
| 1 | g.216324315G>A | CA344912008 | USH2A | c.1181C>T (p.Pro394Leu)
| gnomAD v4 |
| 1 | g.216324315G>C | CA1396580 | USH2A | c.1181C>G (p.Pro394Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216324315G= | CA1220652484 | USH2A | c.1181C= (p.Pro394=)
| |
| 1 | g.216324315G>T | CA344912013 | USH2A | c.1181C>A (p.Pro394Gln)
| |
| 1 | g.216324316G>A | CA344912022 | USH2A | c.1180C>T (p.Pro394Ser)
| dbSNP gnomAD v4 |
| 1 | g.216324316G>C | CA344912020 | USH2A | c.1180C>G (p.Pro394Ala)
| |
| 1 | g.216324316G= | CA1220652485 | USH2A | c.1180C= (p.Pro394=)
| |
| 1 | g.216324316G>T | CA344912018 | USH2A | c.1180C>A (p.Pro394Thr)
| ClinVar |
| 1 | g.216324317T>A | CA344912027 | USH2A | c.1179A>T (p.Gln393His)
| |
| 1 | g.216324317T>C | CA143271 | USH2A | c.1179A>G (p.Gln393=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324317T>G | CA344912029 | USH2A | c.1179A>C (p.Gln393His)
| |
| 1 | g.216324317T= | CA1142241288 | USH2A | c.1179A= (p.Gln393=)
| |
| 1 | g.216324318T>A | CA344912032 | USH2A | c.1178A>T (p.Gln393Leu)
| |
| 1 | g.216324318T>C | CA344912033 | USH2A | c.1178A>G (p.Gln393Arg)
| |
| 1 | g.216324318T>G | CA344912035 | USH2A | c.1178A>C (p.Gln393Pro)
| |
| 1 | g.216324320_216324321del | CA2698063140 | USH2A | c.1177_1178del (p.Gln393ThrfsTer13)
| dbSNP |
| 1 | g.216324318_216324319insATTTCCG | CA2573132654 | USH2A | c.1177_1178insCGGAAAT (p.Gln393ProfsTer16)
| dbSNP |
| 1 | g.216324319G>A | CA344912039 | USH2A | c.1177C>T (p.Gln393Ter)
| gnomAD v4 |
| 1 | g.216324319G>C | CA344912041 | USH2A | c.1177C>G (p.Gln393Glu)
| |
| 1 | g.216324319G>T | CA344912043 | USH2A | c.1177C>A (p.Gln393Lys)
| |
| 1 | g.216324320T>A | CA423397904 | USH2A | c.1176A>T (p.Pro392=)
| |
| 1 | g.216324320T>C | CA423397905 | USH2A | c.1176A>G (p.Pro392=)
| |
| 1 | g.216324320T>G | CA423397906 | USH2A | c.1176A>C (p.Pro392=)
| |
| 1 | g.216324320_216324326del | CA2580062223 | USH2A | c.1170_1176del (p.Ser391AsnfsTer5)
| ClinVar |
| 1 | g.216324321G>A | CA344912050 | USH2A | c.1175C>T (p.Pro392Leu)
| |
| 1 | g.216324321G>C | CA344912046 | USH2A | c.1175C>G (p.Pro392Arg)
| |
| 1 | g.216324321G>T | CA344912048 | USH2A | c.1175C>A (p.Pro392Gln)
| gnomAD v4 |
| 1 | g.216324322G>A | CA37898355 | USH2A | c.1174C>T (p.Pro392Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324322G>C | CA344912056 | USH2A | c.1174C>G (p.Pro392Ala)
| |
| 1 | g.216324322G= | CA1146976935 | USH2A | c.1174C= (p.Pro392=)
| |
| 1 | g.216324322G>T | CA344912058 | USH2A | c.1174C>A (p.Pro392Thr)
| |
| 1 | g.216324323A= | CA1144378885 | USH2A | c.1173T= (p.Ser391=)
| |
| 1 | g.216324323A>C | CA344912061 | USH2A | c.1173T>G (p.Ser391Arg)
| |
| 1 | g.216324323A>G | CA423397907 | USH2A | c.1173T>C (p.Ser391=)
| |
| 1 | g.216324323A>T | CA1396581 | USH2A | c.1173T>A (p.Ser391Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324324C>A | CA37898360 | USH2A | c.1172G>T (p.Ser391Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216324324C= | CA1220652486 | USH2A | c.1172G= (p.Ser391=)
| |
| 1 | g.216324324C>G | CA344912070 | USH2A | c.1172G>C (p.Ser391Thr)
| |
| 1 | g.216324324C>T | CA344912067 | USH2A | c.1172G>A (p.Ser391Asn)
| |
| 1 | g.216324325T>A | CA344912073 | USH2A | c.1171A>T (p.Ser391Cys)
| |
| 1 | g.216324325T>C | CA344912074 | USH2A | c.1171A>G (p.Ser391Gly)
| |
| 1 | g.216324325T>G | CA344912077 | USH2A | c.1171A>C (p.Ser391Arg)
| |
| 1 | g.216324326A= | CA1220652487 | USH2A | c.1170T= (p.Phe390=)
| |
| 1 | g.216324326A>C | CA1396582 | USH2A | c.1170T>G (p.Phe390Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324326A>G | CA423397908 | USH2A | c.1170T>C (p.Phe390=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216324326A>T | CA344912081 | USH2A | c.1170T>A (p.Phe390Leu)
| |
| 1 | g.216324327A= | CA1220652488 | USH2A | c.1169T= (p.Phe390=)
| |
| 1 | g.216324327A>C | CA344912084 | USH2A | c.1169T>G (p.Phe390Cys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216324327A>G | CA344912087 | USH2A | c.1169T>C (p.Phe390Ser)
| |
| 1 | g.216324327A>T | CA344912088 | USH2A | c.1169T>A (p.Phe390Tyr)
| |
| 1 | g.216324328A>C | CA344912089 | USH2A | c.1168T>G (p.Phe390Val)
| |
| 1 | g.216324328A>G | CA344912090 | USH2A | c.1168T>C (p.Phe390Leu)
| |
| 1 | g.216324328A>T | CA344912091 | USH2A | c.1168T>A (p.Phe390Ile)
| |
| 1 | g.216324329G>A | CA423397909 | USH2A | c.1167C>T (p.Phe389=)
| |
| 1 | g.216324329G>C | CA344912092 | USH2A | c.1167C>G (p.Phe389Leu)
| |
| 1 | g.216324329G= | CA1220652489 | USH2A | c.1167C= (p.Phe389=)
| |
| 1 | g.216324329G>T | CA344912093 | USH2A | c.1167C>A (p.Phe389Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216324330A>C | CA344912094 | USH2A | c.1166T>G (p.Phe389Cys)
| |
| 1 | g.216324330A>G | CA344912095 | USH2A | c.1166T>C (p.Phe389Ser)
| |
| 1 | g.216324330A>T | CA344912096 | USH2A | c.1166T>A (p.Phe389Tyr)
| |
| 1 | g.216324331A>C | CA344912097 | USH2A | c.1165T>G (p.Phe389Val)
| |
| 1 | g.216324331A>G | CA344912098 | USH2A | c.1165T>C (p.Phe389Leu)
| |
| 1 | g.216324331A>T | CA344912099 | USH2A | c.1165T>A (p.Phe389Ile)
| |
| 1 | g.216324332C>A | CA344912100 | USH2A | c.1164G>T (p.Gln388His)
| |
| 1 | g.216324332C>G | CA344912101 | USH2A | c.1164G>C (p.Gln388His)
| gnomAD v4 |
| 1 | g.216324332C>T | CA423397910 | USH2A | c.1164G>A (p.Gln388=)
| |
| 1 | g.216324333T>A | CA344912102 | USH2A | c.1163A>T (p.Gln388Leu)
| |
| 1 | g.216324333T>C | CA344912103 | USH2A | c.1163A>G (p.Gln388Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216324333T>G | CA344912104 | USH2A | c.1163A>C (p.Gln388Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216324333T= | CA1220652490 | USH2A | c.1163A= (p.Gln388=)
| |
| 1 | g.216324334G>A | CA344912105 | USH2A | c.1162C>T (p.Gln388Ter)
| |
| 1 | g.216324334G>C | CA344912106 | USH2A | c.1162C>G (p.Gln388Glu)
| |
| 1 | g.216324334G>T | CA344912107 | USH2A | c.1162C>A (p.Gln388Lys)
| |
| 1 | g.216324335A>C | CA344912108 | USH2A | c.1161T>G (p.Ile387Met)
| |
| 1 | g.216324335A>G | CA423397912 | USH2A | c.1161T>C (p.Ile387=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216324335A>T | CA423397911 | USH2A | c.1161T>A (p.Ile387=)
| |
| 1 | g.216324336A>C | CA344912109 | USH2A | c.1160T>G (p.Ile387Ser)
| |
| 1 | g.216324336A>G | CA344912110 | USH2A | c.1160T>C (p.Ile387Thr)
| ClinVar gnomAD v4 |
| 1 | g.216324336A>T | CA344912111 | USH2A | c.1160T>A (p.Ile387Asn)
| |
| 1 | g.216324336_216324337insCT | CA2747737985 | USH2A | c.1159_1160insAG (p.Ile387LysfsTer12)
| |
| 1 | g.216324337T>A | CA344912112 | USH2A | c.1159A>T (p.Ile387Phe)
| |
| 1 | g.216324337T>C | CA1396583 | USH2A | c.1159A>G (p.Ile387Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324337T>G | CA344912113 | USH2A | c.1159A>C (p.Ile387Leu)
| COSMIC COSMIC COSMIC |
| 1 | g.216324337T= | CA1220652491 | USH2A | c.1159A= (p.Ile387=)
| |
| 1 | g.216324338G>A | CA423397913 | USH2A | c.1158C>T (p.Ile386=)
| |
| 1 | g.216324338G>C | CA344912114 | USH2A | c.1158C>G (p.Ile386Met)
| gnomAD v4 |
| 1 | g.216324338G= | CA1220652492 | USH2A | c.1158C= (p.Ile386=)
| |
| 1 | g.216324338G>T | CA37898366 | USH2A | c.1158C>A (p.Ile386=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324339A= | CA1145402229 | USH2A | c.1157T= (p.Ile386=)
| |
| 1 | g.216324339A>C | CA344912115 | USH2A | c.1157T>G (p.Ile386Ser)
| |
| 1 | g.216324339A>G | CA344912116 | USH2A | c.1157T>C (p.Ile386Thr)
| gnomAD v4 |
| 1 | g.216324339A>T | CA37898368 | USH2A | c.1157T>A (p.Ile386Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216324343_216324347del | CA2573132655 | USH2A | c.1153_1157del (p.Ile385HisfsTer5)
| ClinVar dbSNP |
| 1 | g.216324340T>A | CA344912117 | USH2A | c.1156A>T (p.Ile386Phe)
| |
| 1 | g.216324340T>C | CA344912118 | USH2A | c.1156A>G (p.Ile386Val)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216324340T>G | CA344912119 | USH2A | c.1156A>C (p.Ile386Leu)
| |
| 1 | g.216324340T= | CA1220652493 | USH2A | c.1156A= (p.Ile386=)
| |
| 1 | g.216324341A= | CA1220652494 | USH2A | c.1155T= (p.Ile385=)
| |
| 1 | g.216324341A>C | CA344912120 | USH2A | c.1155T>G (p.Ile385Met)
| |
| 1 | g.216324341A>G | CA423397914 | USH2A | c.1155T>C (p.Ile385=)
| dbSNP gnomAD v4 |
| 1 | g.216324341A>T | CA423397915 | USH2A | c.1155T>A (p.Ile385=)
| |
| 1 | g.216324342A>C | CA344912123 | USH2A | c.1154T>G (p.Ile385Ser)
| |
| 1 | g.216324342A>G | CA344912122 | USH2A | c.1154T>C (p.Ile385Thr)
| gnomAD v4 |
| 1 | g.216324342A>T | CA344912121 | USH2A | c.1154T>A (p.Ile385Asn)
| |
| 1 | g.216324343T>A | CA344912124 | USH2A | c.1153A>T (p.Ile385Phe)
| gnomAD v4 |
| 1 | g.216324343T>C | CA344912126 | USH2A | c.1153A>G (p.Ile385Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216324343T>G | CA344912125 | USH2A | c.1153A>C (p.Ile385Leu)
| |
| 1 | g.216324343T= | CA1220652495 | USH2A | c.1153A= (p.Ile385=)
| |
| 1 | g.216324344A>C | CA344912127 | USH2A | c.1152T>G (p.Tyr384Ter)
| ClinVar |
| 1 | g.216324344A>G | CA423397916 | USH2A | c.1152T>C (p.Tyr384=)
| ClinVar gnomAD v4 |
| 1 | g.216324344A>T | CA344912128 | USH2A | c.1152T>A (p.Tyr384Ter)
| |
| 1 | g.216324345T>A | CA344912129 | USH2A | c.1151A>T (p.Tyr384Phe)
| |
| 1 | g.216324345T>C | CA1396584 | USH2A | c.1151A>G (p.Tyr384Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216324345T>G | CA344912130 | USH2A | c.1151A>C (p.Tyr384Ser)
| |
| 1 | g.216324345T= | CA1220652496 | USH2A | c.1151A= (p.Tyr384=)
| |
| 1 | g.216324346A= | CA1220652497 | USH2A | c.1150T= (p.Tyr384=)
| |
| 1 | g.216324346A>C | CA344912131 | USH2A | c.1150T>G (p.Tyr384Asp)
| |
| 1 | g.216324346A>G | CA344912132 | USH2A | c.1150T>C (p.Tyr384His)
| ClinVar dbSNP |
| 1 | g.216324346A>T | CA344912133 | USH2A | c.1150T>A (p.Tyr384Asn)
| |
| 1 | g.216324347A>C | CA344912134 | USH2A | c.1149T>G (p.Phe383Leu)
| |
| 1 | g.216324347A>G | CA423397917 | USH2A | c.1149T>C (p.Phe383=)
| |
| 1 | g.216324347A>T | CA344912135 | USH2A | c.1149T>A (p.Phe383Leu)
| |
| 1 | g.216324348A>C | CA344912136 | USH2A | c.1148T>G (p.Phe383Cys)
| |
| 1 | g.216324348A>G | CA344912137 | USH2A | c.1148T>C (p.Phe383Ser)
| |
| 1 | g.216324348A>T | CA344912138 | USH2A | c.1148T>A (p.Phe383Tyr)
| |
| 1 | g.216324349A>C | CA344912141 | USH2A | c.1147T>G (p.Phe383Val)
| |
| 1 | g.216324349A>G | CA344912140 | USH2A | c.1147T>C (p.Phe383Leu)
| |
| 1 | g.216324349A>T | CA344912139 | USH2A | c.1147T>A (p.Phe383Ile)
| gnomAD v4 |
| 1 | g.216324350C>A | CA423397918 | USH2A | c.1146G>T (p.Val382=)
| |
| 1 | g.216324350C= | CA1220652498 | USH2A | c.1146G= (p.Val382=)
| |
| 1 | g.216324350C>G | CA423397920 | USH2A | c.1146G>C (p.Val382=)
| |
| 1 | g.216324350C>T | CA423397919 | USH2A | c.1146G>A (p.Val382=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216324351A>C | CA344912142 | USH2A | c.1145T>G (p.Val382Gly)
| COSMIC COSMIC COSMIC |
| 1 | g.216324351A>G | CA344912143 | USH2A | c.1145T>C (p.Val382Ala)
| |
| 1 | g.216324351A>T | CA344912144 | USH2A | c.1145T>A (p.Val382Glu)
| |
| 1 | g.216324352C>A | CA344912145 | USH2A | c.1144G>T (p.Val382Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216324352C= | CA1220652499 | USH2A | c.1144G= (p.Val382=)
| |
| 1 | g.216324352C>G | CA344912146 | USH2A | c.1144G>C (p.Val382Leu)
| |
| 1 | g.216324352C>T | CA1396585 | USH2A | c.1144G>A (p.Val382Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324353C>A | CA344912147 | USH2A | c.1144-1G>T (n.1144-1G>T)
| dbSNP |
| 1 | g.216324353C= | CA1220652500 | USH2A | c.1144-1G= (n.1144-1G=)
| |
| 1 | g.216324353C>G | CA344912148 | USH2A | c.1144-1G>C (n.1144-1G>C)
| |
| 1 | g.216324353C>T | CA344912149 | USH2A | c.1144-1G>A (n.1144-1G>A)
| dbSNP gnomAD v2 |
| 1 | g.216324354T>A | CA344912150 | USH2A | c.1144-2A>T (n.1144-2A>T)
| ClinVar dbSNP |
| 1 | g.216324354T>C | CA344912151 | USH2A | c.1144-2A>G (n.1144-2A>G)
| gnomAD v4 |
| 1 | g.216324354T>G | CA344912152 | USH2A | c.1144-2A>C (n.1144-2A>C)
| |
| 1 | g.216324354T= | CA1220652501 | USH2A | c.1144-2A= (n.1144-2A=)
| |
| 1 | g.216324355_216324356del | CA2747737986 | USH2A | c.1144-4_1144-3del (n.1144-4_1144-3del)
| |
| 1 | g.216324356A= | CA1220652502 | USH2A | c.1144-4T= (n.1144-4T=)
| |
| 1 | g.216324356A>G | CA1396586 | USH2A | c.1144-4T>C (n.1144-4T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216324357_216324358insCC | CA2747737987 | USH2A | c.1144-6_1144-5insGG (n.1144-6_1144-5insGG)
| |
| 1 | g.216324358A= | CA1220652503 | USH2A | c.1144-6T= (n.1144-6T=)
| |
| 1 | g.216324358A>C | CA1396587 | USH2A | c.1144-6T>G (n.1144-6T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216324359A= | CA1220652504 | USH2A | c.1144-7T= (n.1144-7T=)
| |
| 1 | g.216324359A>G | CA1220652505 | USH2A | c.1144-7T>C (n.1144-7T>C)
| ClinVar dbSNP |
| 1 | g.216324361G>A | CA529004292 | USH2A | c.1144-9C>T (n.1144-9C>T)
| dbSNP gnomAD v2 |
| 1 | g.216324361G= | CA1220652506 | USH2A | c.1144-9C= (n.1144-9C=)
| |
| 1 | g.216324362G>A | CA1396588 | USH2A | c.1144-10C>T (n.1144-10C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216324362G= | CA1149074870 | USH2A | c.1144-10C= (n.1144-10C=)
| |
| 1 | g.216324362G>T | CA2650501533 | USH2A | c.1144-10C>A (n.1144-10C>A)
| gnomAD v4 |
| 1 | g.216324363A>G | CA2650501534 | USH2A | c.1144-11T>C (n.1144-11T>C)
| gnomAD v4 |
| 1 | g.216324365dup | CA2607178753 | USH2A | c.1144-11dup (n.1144-11dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216324364A= | CA1220652507 | USH2A | c.1144-12T= (n.1144-12T=)
| |
| 1 | g.216324364A>G | CA1220652508 | USH2A | c.1144-12T>C (n.1144-12T>C)
| dbSNP gnomAD v4 |
| 1 | g.216324365A= | CA1220652509 | USH2A | c.1144-13T= (n.1144-13T=)
| |
| 1 | g.216324365A>G | CA1396589 | USH2A | c.1144-13T>C (n.1144-13T>C)
| dbSNP ExAC |
| 1 | g.216324366G>A | CA2574133697 | USH2A | c.1144-14C>T (n.1144-14C>T)
| gnomAD v4 |
| 1 | g.216324366G>C | CA1220652511 | USH2A | c.1144-14C>G (n.1144-14C>G)
| dbSNP gnomAD v4 |
| 1 | g.216324366G= | CA1220652510 | USH2A | c.1144-14C= (n.1144-14C=)
| |
| 1 | g.216324366G>T | CA2650501535 | USH2A | c.1144-14C>A (n.1144-14C>A)
| gnomAD v4 |
| 1 | g.216324366_216324367insACA | CA2747737988 | USH2A | c.1144-15_1144-14insTGT (n.1144-15_1144-14insTGT)
| |
| 1 | g.216324366_216324367insACT | CA2747737989 | USH2A | c.1144-15_1144-14insAGT (n.1144-15_1144-14insAGT)
| |
| 1 | g.216324366_216324367insAGA | CA2747737990 | USH2A | c.1144-15_1144-14insTCT (n.1144-15_1144-14insTCT)
| |
| 1 | g.216324367T>A | CA2747737991 | USH2A | c.1144-15A>T (n.1144-15A>T)
| |
| 1 | g.216324367T>C | CA2650501536 | USH2A | c.1144-15A>G (n.1144-15A>G)
| gnomAD v4 |
| 1 | g.216324372_216324375del | CA2574133698 | USH2A | c.1144-18_1144-15del (n.1144-18_1144-15del)
| gnomAD v4 |
| 1 | g.216324367_216324368insAG | CA2747737992 | USH2A | c.1144-16_1144-15insCT (n.1144-16_1144-15insCT)
| |
| 1 | g.216324368T>A | CA37898379 | USH2A | c.1144-16A>T (n.1144-16A>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324368T>C | CA2650501537 | USH2A | c.1144-16A>G (n.1144-16A>G)
| gnomAD v4 |
| 1 | g.216324368T>G | CA529004293 | USH2A | c.1144-16A>C (n.1144-16A>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324368T= | CA1220652512 | USH2A | c.1144-16A= (n.1144-16A=)
| |
| 1 | g.216324369A>G | CA2650501538 | USH2A | c.1144-17T>C (n.1144-17T>C)
| gnomAD v4 |
| 1 | g.216324370A= | CA1220652513 | USH2A | c.1144-18T= (n.1144-18T=)
| |
| 1 | g.216324370A>C | CA2747737993 | USH2A | c.1144-18T>G (n.1144-18T>G)
| |
| 1 | g.216324370A>G | CA37898382 | USH2A | c.1144-18T>C (n.1144-18T>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324370A>T | CA2650501539 | USH2A | c.1144-18T>A (n.1144-18T>A)
| gnomAD v4 |
| 1 | g.216324371T>C | CA37898384 | USH2A | c.1144-19A>G (n.1144-19A>G)
| dbSNP |
| 1 | g.216324371T= | CA1147796264 | USH2A | c.1144-19A= (n.1144-19A=)
| |
| 1 | g.216324372del | CA2650501540 | USH2A | c.1144-19del (n.1144-19del)
| gnomAD v4 |
| 1 | g.216324371_216324372insACA | CA2747737994 | USH2A | c.1144-20_1144-19insTGT (n.1144-20_1144-19insTGT)
| |
| 1 | g.216324372T>A | CA2574133699 | USH2A | c.1144-20A>T (n.1144-20A>T)
| |
| 1 | g.216324373_216324374insC | CA2650501541 | USH2A | c.1144-22_1144-21insG (n.1144-22_1144-21insG)
| gnomAD v4 |
| 1 | g.216324375_216324378del | CA2650501542 | USH2A | c.1144-25_1144-22del (n.1144-25_1144-22del)
| gnomAD v4 |
| 1 | g.216324375T>C | CA731447111 | USH2A | c.1144-23A>G (n.1144-23A>G)
| dbSNP gnomAD v4 |
| 1 | g.216324375T= | CA1220652514 | USH2A | c.1144-23A= (n.1144-23A=)
| |
| 1 | g.216324375_216324376insACA | CA2747737995 | USH2A | c.1144-24_1144-23insTGT (n.1144-24_1144-23insTGT)
| |
| 1 | g.216324376del | CA2650501543 | USH2A | c.1144-24del (n.1144-24del)
| gnomAD v4 |
| 1 | g.216324376G>A | CA2747737996 | USH2A | c.1144-24C>T (n.1144-24C>T)
| |
| 1 | g.216324376G>T | CA2650501544 | USH2A | c.1144-24C>A (n.1144-24C>A)
| gnomAD v4 |
| 1 | g.216324377T>A | CA2747737997 | USH2A | c.1144-25A>T (n.1144-25A>T)
| |
| 1 | g.216324377T>C | CA2747737998 | USH2A | c.1144-25A>G (n.1144-25A>G)
| |
| 1 | g.216324378A>C | CA2650501545 | USH2A | c.1144-26T>G (n.1144-26T>G)
| gnomAD v4 |
| 1 | g.216324379A>T | CA2747737999 | USH2A | c.1144-27T>A (n.1144-27T>A)
| |
| 1 | g.216324380T>G | CA2499214538 | USH2A | c.1144-28A>C (n.1144-28A>C)
| ClinVar dbSNP |
| 1 | g.216324381T>A | CA2747738000 | USH2A | c.1144-29A>T (n.1144-29A>T)
| |
| 1 | g.216324382A>C | CA2747738001 | USH2A | c.1144-30T>G (n.1144-30T>G)
| |
| 1 | g.216324383A= | CA1220652515 | USH2A | c.1144-31T= (n.1144-31T=)
| |
| 1 | g.216324383A>C | CA529004294 | USH2A | c.1144-31T>G (n.1144-31T>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216324384A= | CA1220652516 | USH2A | c.1144-32T= (n.1144-32T=)
| |
| 1 | g.216324384A>C | CA2650501546 | USH2A | c.1144-32T>G (n.1144-32T>G)
| gnomAD v4 |
| 1 | g.216324384A>G | CA731447112 | USH2A | c.1144-32T>C (n.1144-32T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216324385G>A | CA529004295 | USH2A | c.1144-33C>T (n.1144-33C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216324385G>C | CA1396590 | USH2A | c.1144-33C>G (n.1144-33C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324385G= | CA1144109361 | USH2A | c.1144-33C= (n.1144-33C=)
| |
| 1 | g.216324385G>T | CA2650501547 | USH2A | c.1144-33C>A (n.1144-33C>A)
| gnomAD v4 |
| 1 | g.216324386T>G | CA1396591 | USH2A | c.1144-34A>C (n.1144-34A>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216324386T= | CA1148475309 | USH2A | c.1144-34A= (n.1144-34A=)
| |
| 1 | g.216324389del | CA2650501548 | USH2A | c.1144-34del (n.1144-34del)
| gnomAD v4 |
| 1 | g.216324387T>C | CA2574133700 | USH2A | c.1144-35A>G (n.1144-35A>G)
| |
| 1 | g.216324387_216324388insACA | CA2747738002 | USH2A | c.1144-36_1144-35insTGT (n.1144-36_1144-35insTGT)
| |
| 1 | g.216324388T>C | CA1396592 | USH2A | c.1144-36A>G (n.1144-36A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324388T= | CA1220652517 | USH2A | c.1144-36A= (n.1144-36A=)
| |
| 1 | g.216324388_216324389insACA | CA2747738003 | USH2A | c.1144-37_1144-36insTGT (n.1144-37_1144-36insTGT)
| |
| 1 | g.216324389T>A | CA2574133701 | USH2A | c.1144-37A>T (n.1144-37A>T)
| gnomAD v4 |
| 1 | g.216324389T>G | CA2650501549 | USH2A | c.1144-37A>C (n.1144-37A>C)
| gnomAD v4 |
| 1 | g.216324389_216324390del | CA2747738004 | USH2A | c.1144-38_1144-37del (n.1144-38_1144-37del)
| |
| 1 | g.216324390A>C | CA646416120 | USH2A | c.1144-38T>G (n.1144-38T>G)
| COSMIC |
| 1 | g.216324391A= | CA1220652518 | USH2A | c.1144-39T= (n.1144-39T=)
| |
| 1 | g.216324391A>C | CA37898391 | USH2A | c.1144-39T>G (n.1144-39T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324391A>G | CA2650501550 | USH2A | c.1144-39T>C (n.1144-39T>C)
| gnomAD v4 |
| 1 | g.216324393T>A | CA1220652520 | USH2A | c.1144-41A>T (n.1144-41A>T)
| dbSNP |
| 1 | g.216324393T>C | CA1220652521 | USH2A | c.1144-41A>G (n.1144-41A>G)
| dbSNP gnomAD v4 |
| 1 | g.216324393T= | CA1220652519 | USH2A | c.1144-41A= (n.1144-41A=)
| |
| 1 | g.216324394_216324395del | CA2747738005 | USH2A | c.1144-42_1144-41del (n.1144-42_1144-41del)
| |
| 1 | g.216324394T>A | CA2747738006 | USH2A | c.1144-42A>T (n.1144-42A>T)
| |
| 1 | g.216324394T>G | CA2650501551 | USH2A | c.1144-42A>C (n.1144-42A>C)
| gnomAD v4 |
| 1 | g.216324395T>A | CA2747738007 | USH2A | c.1144-43A>T (n.1144-43A>T)
| |
| 1 | g.216324395T>C | CA37898393 | USH2A | c.1144-43A>G (n.1144-43A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324395T= | CA1220652522 | USH2A | c.1144-43A= (n.1144-43A=)
| |
| 1 | g.216324396A>C | CA2747738008 | USH2A | c.1144-44T>G (n.1144-44T>G)
| |
| 1 | g.216324397_216324403del | CA2747738009 | USH2A | c.1144-50_1144-44del (n.1144-50_1144-44del)
| |
| 1 | g.216324397A= | CA1220652523 | USH2A | c.1144-45T= (n.1144-45T=)
| |
| 1 | g.216324397A>G | CA1220652524 | USH2A | c.1144-45T>C (n.1144-45T>C)
| dbSNP |
| 1 | g.216324397_216324401del | CA2747738010 | USH2A | c.1144-49_1144-45del (n.1144-49_1144-45del)
| |
| 1 | g.216324398C>A | CA2747738011 | USH2A | c.1144-46G>T (n.1144-46G>T)
| |
| 1 | g.216324398_216324401delinsCCAT | CA1220652525 | USH2A | c.1144-49_1144-46delinsATGG (n.1144-49_1144-46delinsATGG)
| |
| 1 | g.216324399C>T | CA2650501552 | USH2A | c.1144-47G>A (n.1144-47G>A)
| gnomAD v4 |
| 1 | g.216324401_216324403del | CA731447122 | USH2A | c.1144-49_1144-47del (n.1144-49_1144-47del)
| dbSNP gnomAD v4 |
| 1 | g.216324400A>G | CA2650501553 | USH2A | c.1144-48T>C (n.1144-48T>C)
| gnomAD v4 |
| 1 | g.216324401del | CA2747738013 | USH2A | c.1144-49del (n.1144-49del)
| |
| 1 | g.216324401T>A | CA1220652527 | USH2A | c.1144-49A>T (n.1144-49A>T)
| dbSNP |
| 1 | g.216324401T>C | CA1012230158 | USH2A | c.1144-49A>G (n.1144-49A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216324401T= | CA1220652526 | USH2A | c.1144-49A= (n.1144-49A=)
| |
| 1 | g.216324401_216324402del | CA2747738012 | USH2A | c.1144-50_1144-49del (n.1144-50_1144-49del)
| |
| 1 | g.216324402_216324405del | CA2747738014 | USH2A | c.1144-52_1144-49del (n.1144-52_1144-49del)
| |
| 1 | g.216324401_216324402insAGA | CA2747738015 | USH2A | c.1144-50_1144-49insTCT (n.1144-50_1144-49insTCT)
| |
| 1 | g.216324402C>A | CA1396593 | USH2A | c.1144-50G>T (n.1144-50G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216324402C= | CA1220652528 | USH2A | c.1144-50G= (n.1144-50G=)
| |
| 1 | g.216324402C>T | CA2747738016 | USH2A | c.1144-50G>A (n.1144-50G>A)
| |
| 1 | g.216324403A>G | CA2747738017 | USH2A | c.1144-51T>C (n.1144-51T>C)
| |
| 1 | g.216324403_216324404insACT | CA2747738018 | USH2A | c.1144-52_1144-51insAGT (n.1144-52_1144-51insAGT)
| |
| 1 | g.216324404G>A | CA1396594 | USH2A | c.1144-52C>T (n.1144-52C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216324404G= | CA1148403738 | USH2A | c.1144-52C= (n.1144-52C=)
| |
| 1 | g.216324404G>T | CA2650501554 | USH2A | c.1144-52C>A (n.1144-52C>A)
| gnomAD v4 |
| 1 | g.216324405T>A | CA2747738019 | USH2A | c.1144-53A>T (n.1144-53A>T)
| |
| 1 | g.216324405T>C | CA2574133702 | USH2A | c.1144-53A>G (n.1144-53A>G)
| gnomAD v4 |
| 1 | g.216324406A= | CA1220652529 | USH2A | c.1144-54T= (n.1144-54T=)
| |
| 1 | g.216324406A>G | CA2650501555 | USH2A | c.1144-54T>C (n.1144-54T>C)
| gnomAD v4 |
| 1 | g.216324406A>T | CA529004296 | USH2A | c.1144-54T>A (n.1144-54T>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
