| 1 | g.215670879_215670969del | CA2747717459 | USH2A | c.14133+12_14133+102del (n.14133+12_14133+102del)
| |
| 1 | g.215670930G>T | CA2650500197 | USH2A | c.14133+42C>A (n.14133+42C>A)
| gnomAD v4 |
| 1 | g.215670934_215670937del | CA2650500198 | USH2A | c.14133+38_14133+41del (n.14133+38_14133+41del)
| gnomAD v4 |
| 1 | g.215670932A>G | CA2650500199 | USH2A | c.14133+40T>C (n.14133+40T>C)
| gnomAD v4 |
| 1 | g.215670932A>T | CA2747717464 | USH2A | c.14133+40T>A (n.14133+40T>A)
| |
| 1 | g.215670933A= | CA1220372099 | USH2A | c.14133+39T= (n.14133+39T=)
| |
| 1 | g.215670933A>G | CA1012177366 | USH2A | c.14133+39T>C (n.14133+39T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215670934A>G | CA2573662642 | USH2A | c.14133+38T>C (n.14133+38T>C)
| |
| 1 | g.215670935C>A | CA2650500200 | USH2A | c.14133+37G>T (n.14133+37G>T)
| gnomAD v4 |
| 1 | g.215670936A= | CA1220372100 | USH2A | c.14133+36T= (n.14133+36T=)
| |
| 1 | g.215670936A>G | CA1393139 | USH2A | c.14133+36T>C (n.14133+36T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215670936A>T | CA2574000661 | USH2A | c.14133+36T>A (n.14133+36T>A)
| |
| 1 | g.215670937A>G | CA2573662643 | USH2A | c.14133+35T>C (n.14133+35T>C)
| gnomAD v4 |
| 1 | g.215670938T>G | CA2650500202 | USH2A | c.14133+34A>C (n.14133+34A>C)
| gnomAD v4 |
| 1 | g.215670939C= | CA1220372101 | USH2A | c.14133+33G= (n.14133+33G=)
| |
| 1 | g.215670939C>T | CA1220372102 | USH2A | c.14133+33G>A (n.14133+33G>A)
| dbSNP |
| 1 | g.215670940A>T | CA2747717465 | USH2A | c.14133+32T>A (n.14133+32T>A)
| |
| 1 | g.215670941G>A | CA1393140 | USH2A | c.14133+31C>T (n.14133+31C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215670941G= | CA1220372103 | USH2A | c.14133+31C= (n.14133+31C=)
| |
| 1 | g.215670944C= | CA1220372104 | USH2A | c.14133+28G= (n.14133+28G=)
| |
| 1 | g.215670944C>T | CA1393141 | USH2A | c.14133+28G>A (n.14133+28G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215670945G>A | CA1393142 | USH2A | c.14133+27C>T (n.14133+27C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215670945G= | CA1220372105 | USH2A | c.14133+27C= (n.14133+27C=)
| |
| 1 | g.215670945G>T | CA2574000667 | USH2A | c.14133+27C>A (n.14133+27C>A)
| gnomAD v4 |
| 1 | g.215670947A= | CA1220372106 | USH2A | c.14133+25T= (n.14133+25T=)
| |
| 1 | g.215670947A>C | CA529002001 | USH2A | c.14133+25T>G (n.14133+25T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215670948T>C | CA1393143 | USH2A | c.14133+24A>G (n.14133+24A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215670948T= | CA1220372107 | USH2A | c.14133+24A= (n.14133+24A=)
| |
| 1 | g.215670950G= | CA1149036537 | USH2A | c.14133+22C= (n.14133+22C=)
| |
| 1 | g.215670950G>T | CA1393144 | USH2A | c.14133+22C>A (n.14133+22C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215670951T>C | CA1012177375 | USH2A | c.14133+21A>G (n.14133+21A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215670951T= | CA1220372108 | USH2A | c.14133+21A= (n.14133+21A=)
| |
| 1 | g.215670952T>C | CA2650500210 | USH2A | c.14133+20A>G (n.14133+20A>G)
| gnomAD v4 |
| 1 | g.215670954A= | CA1220372109 | USH2A | c.14133+18T= (n.14133+18T=)
| |
| 1 | g.215670954A>C | CA1220372110 | USH2A | c.14133+18T>G (n.14133+18T>G)
| dbSNP |
| 1 | g.215670957A>T | CA2739275669 | USH2A | c.14133+15T>A (n.14133+15T>A)
| ClinVar |
| 1 | g.215670958T>C | CA529002002 | USH2A | c.14133+14A>G (n.14133+14A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215670958T= | CA1220372111 | USH2A | c.14133+14A= (n.14133+14A=)
| |
| 1 | g.215670959A>G | CA2650500213 | USH2A | c.14133+13T>C (n.14133+13T>C)
| ClinVar gnomAD v4 |
| 1 | g.215670959A>T | CA2650500219 | USH2A | c.14133+13T>A (n.14133+13T>A)
| gnomAD v4 |
| 1 | g.215670962C>A | CA1393145 | USH2A | c.14133+10G>T (n.14133+10G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215670962C= | CA1144117285 | USH2A | c.14133+10G= (n.14133+10G=)
| |
| 1 | g.215670962C>G | CA731332402 | USH2A | c.14133+10G>C (n.14133+10G>C)
| dbSNP |
| 1 | g.215670962C>T | CA1393146 | USH2A | c.14133+10G>A (n.14133+10G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215670963A>G | CA2574000739 | USH2A | c.14133+9T>C (n.14133+9T>C)
| |
| 1 | g.215670963A>T | CA2573131542 | USH2A | c.14133+9T>A (n.14133+9T>A)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215670964T>C | CA2650500226 | USH2A | c.14133+8A>G (n.14133+8A>G)
| gnomAD v4 |
| 1 | g.215670965T>C | CA2573131544 | USH2A | c.14133+7A>G (n.14133+7A>G)
| ClinVar dbSNP |
| 1 | g.215670966T>C | CA2573662644 | USH2A | c.14133+6A>G (n.14133+6A>G)
| |
| 1 | g.215670967C>A | CA2573051475 | USH2A | c.14133+5G>T (n.14133+5G>T)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215670969T>A | CA2573662645 | USH2A | c.14133+3A>T (n.14133+3A>T)
| |
| 1 | g.215670970A>C | CA344839915 | USH2A | c.14133+2T>G (n.14133+2T>G)
| |
| 1 | g.215670970A>G | CA344839917 | USH2A | c.14133+2T>C (n.14133+2T>C)
| |
| 1 | g.215670970A>T | CA344839927 | USH2A | c.14133+2T>A (n.14133+2T>A)
| |
| 1 | g.215670971C>A | CA344839931 | USH2A | c.14133+1G>T (n.14133+1G>T)
| gnomAD v4 |
| 1 | g.215670971C>G | CA344839932 | USH2A | c.14133+1G>C (n.14133+1G>C)
| |
| 1 | g.215670971C>T | CA344839933 | USH2A | c.14133+1G>A (n.14133+1G>A)
| ClinVar |
| 1 | g.215670972C>A | CA344839939 | USH2A | c.14133G>T (p.Gln4711His)
| dbSNP gnomAD v4 |
| 1 | g.215670972C= | CA1220372112 | USH2A | c.14133G= (p.Gln4711=)
| |
| 1 | g.215670972C>G | CA344839937 | USH2A | c.14133G>C (p.Gln4711His)
| |
| 1 | g.215670972C>T | CA423425387 | USH2A | c.14133G>A (p.Gln4711=)
| |
| 1 | g.215670972_215670973delinsCT | CA1220372113 | USH2A | c.14132_14133delinsAG (p.Gln4711=)
| |
| 1 | g.215670973del | CA1220372114 | USH2A | c.14132del (p.Gln4711ArgfsTer5)
| dbSNP |
| 1 | g.215670973T>A | CA344839941 | USH2A | c.14132A>T (p.Gln4711Leu)
| |
| 1 | g.215670973T>C | CA344839943 | USH2A | c.14132A>G (p.Gln4711Arg)
| |
| 1 | g.215670973T>G | CA344839954 | USH2A | c.14132A>C (p.Gln4711Pro)
| |
| 1 | g.215670974G>A | CA1393147 | USH2A | c.14131C>T (p.Gln4711Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215670974G>C | CA344839959 | USH2A | c.14131C>G (p.Gln4711Glu)
| |
| 1 | g.215670974G= | CA1148433557 | USH2A | c.14131C= (p.Gln4711=)
| |
| 1 | g.215670974G>T | CA344839961 | USH2A | c.14131C>A (p.Gln4711Lys)
| |
| 1 | g.215670975A>C | CA344839964 | USH2A | c.14130T>G (p.Tyr4710Ter)
| ClinVar |
| 1 | g.215670975A>G | CA423425389 | USH2A | c.14130T>C (p.Tyr4710=)
| |
| 1 | g.215670975A>T | CA344839970 | USH2A | c.14130T>A (p.Tyr4710Ter)
| |
| 1 | g.215670976T>A | CA344839972 | USH2A | c.14129A>T (p.Tyr4710Phe)
| gnomAD v4 |
| 1 | g.215670976T>C | CA344839973 | USH2A | c.14129A>G (p.Tyr4710Cys)
| |
| 1 | g.215670976T>G | CA16621585 | USH2A | c.14129A>C (p.Tyr4710Ser)
| ClinVar dbSNP |
| 1 | g.215670976T= | CA1220372115 | USH2A | c.14129A= (p.Tyr4710=)
| |
| 1 | g.215670977A= | CA1220372116 | USH2A | c.14128T= (p.Tyr4710=)
| |
| 1 | g.215670977A>C | CA344839975 | USH2A | c.14128T>G (p.Tyr4710Asp)
| |
| 1 | g.215670977A>G | CA344839976 | USH2A | c.14128T>C (p.Tyr4710His)
| dbSNP |
| 1 | g.215670977A>T | CA344839977 | USH2A | c.14128T>A (p.Tyr4710Asn)
| |
| 1 | g.215670978C>A | CA344839980 | USH2A | c.14127G>T (p.Glu4709Asp)
| |
| 1 | g.215670978C= | CA1220372117 | USH2A | c.14127G= (p.Glu4709=)
| |
| 1 | g.215670978C>G | CA344839979 | USH2A | c.14127G>C (p.Glu4709Asp)
| |
| 1 | g.215670978C>T | CA37409947 | USH2A | c.14127G>A (p.Glu4709=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215670979T>A | CA344839983 | USH2A | c.14126A>T (p.Glu4709Val)
| |
| 1 | g.215670979T>C | CA344839984 | USH2A | c.14126A>G (p.Glu4709Gly)
| |
| 1 | g.215670979T>G | CA344839986 | USH2A | c.14126A>C (p.Glu4709Ala)
| |
| 1 | g.215670979T= | CA1220372118 | USH2A | c.14126A= (p.Glu4709=)
| |
| 1 | g.215670980C>A | CA344839988 | USH2A | c.14125G>T (p.Glu4709Ter)
| dbSNP |
| 1 | g.215670980C= | CA1220372119 | USH2A | c.14125G= (p.Glu4709=)
| |
| 1 | g.215670980C>G | CA344839991 | USH2A | c.14125G>C (p.Glu4709Gln)
| |
| 1 | g.215670980C>T | CA344839993 | USH2A | c.14125G>A (p.Glu4709Lys)
| dbSNP gnomAD v4 |
| 1 | g.215670980dup | CA916082111 | USH2A | c.14125dup (p.Glu4709GlyfsTer16)
| ClinVar dbSNP |
| 1 | g.215670981A>C | CA344839995 | USH2A | c.14124T>G (p.Tyr4708Ter)
| ClinVar dbSNP |
| 1 | g.215670981A>G | CA423425393 | USH2A | c.14124T>C (p.Tyr4708=)
| ClinVar |
| 1 | g.215670981A>T | CA344839997 | USH2A | c.14124T>A (p.Tyr4708Ter)
| |
| 1 | g.215670982T>A | CA344839999 | USH2A | c.14123A>T (p.Tyr4708Phe)
| |
| 1 | g.215670982T>C | CA1393148 | USH2A | c.14123A>G (p.Tyr4708Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215670982T>G | CA344840002 | USH2A | c.14123A>C (p.Tyr4708Ser)
| |
| 1 | g.215670982T= | CA1220372120 | USH2A | c.14123A= (p.Tyr4708=)
| |
| 1 | g.215670983A>C | CA344840006 | USH2A | c.14122T>G (p.Tyr4708Asp)
| |
| 1 | g.215670983A>G | CA344840007 | USH2A | c.14122T>C (p.Tyr4708His)
| |
| 1 | g.215670983A>T | CA344840008 | USH2A | c.14122T>A (p.Tyr4708Asn)
| |
| 1 | g.215670984C>A | CA344840013 | USH2A | c.14121G>T (p.Glu4707Asp)
| gnomAD v4 |
| 1 | g.215670984C>G | CA344840010 | USH2A | c.14121G>C (p.Glu4707Asp)
| |
| 1 | g.215670984C>T | CA423425395 | USH2A | c.14121G>A (p.Glu4707=)
| |
| 1 | g.215670985T>A | CA344840020 | USH2A | c.14120A>T (p.Glu4707Val)
| |
| 1 | g.215670985T>C | CA344840022 | USH2A | c.14120A>G (p.Glu4707Gly)
| |
| 1 | g.215670985T>G | CA344840024 | USH2A | c.14120A>C (p.Glu4707Ala)
| |
| 1 | g.215670986C>A | CA344840026 | USH2A | c.14119G>T (p.Glu4707Ter)
| |
| 1 | g.215670986C>G | CA344840027 | USH2A | c.14119G>C (p.Glu4707Gln)
| COSMIC COSMIC |
| 1 | g.215670986C>T | CA344840030 | USH2A | c.14119G>A (p.Glu4707Lys)
| |
| 1 | g.215670987T>A | CA423425399 | USH2A | c.14118A>T (p.Thr4706=)
| |
| 1 | g.215670987T>C | CA423425397 | USH2A | c.14118A>G (p.Thr4706=)
| |
| 1 | g.215670987T>G | CA423425398 | USH2A | c.14118A>C (p.Thr4706=)
| |
| 1 | g.215670989_215670990del | CA2650500241 | USH2A | c.14117_14118del (p.Thr4706ArgfsTer3)
| gnomAD v4 |
| 1 | g.215670988G>A | CA344840035 | USH2A | c.14117C>T (p.Thr4706Ile)
| |
| 1 | g.215670988G>C | CA344840032 | USH2A | c.14117C>G (p.Thr4706Arg)
| |
| 1 | g.215670988G>T | CA344840033 | USH2A | c.14117C>A (p.Thr4706Lys)
| |
| 1 | g.215670989T>A | CA344840038 | USH2A | c.14116A>T (p.Thr4706Ser)
| |
| 1 | g.215670989T>C | CA344840041 | USH2A | c.14116A>G (p.Thr4706Ala)
| |
| 1 | g.215670989T>G | CA344840042 | USH2A | c.14116A>C (p.Thr4706Pro)
| |
| 1 | g.215670990G>A | CA423425401 | USH2A | c.14115C>T (p.Phe4705=)
| |
| 1 | g.215670990G>C | CA344840050 | USH2A | c.14115C>G (p.Phe4705Leu)
| |
| 1 | g.215670990G>T | CA344840052 | USH2A | c.14115C>A (p.Phe4705Leu)
| |
| 1 | g.215670991A>C | CA344840058 | USH2A | c.14114T>G (p.Phe4705Cys)
| |
| 1 | g.215670991A>G | CA344840055 | USH2A | c.14114T>C (p.Phe4705Ser)
| |
| 1 | g.215670991A>T | CA344840056 | USH2A | c.14114T>A (p.Phe4705Tyr)
| |
| 1 | g.215670992A= | CA1220372121 | USH2A | c.14113T= (p.Phe4705=)
| |
| 1 | g.215670992A>C | CA344840059 | USH2A | c.14113T>G (p.Phe4705Val)
| |
| 1 | g.215670992A>G | CA344840062 | USH2A | c.14113T>C (p.Phe4705Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215670992A>T | CA344840060 | USH2A | c.14113T>A (p.Phe4705Ile)
| |
| 1 | g.215670993A>C | CA423425406 | USH2A | c.14112T>G (p.Pro4704=)
| |
| 1 | g.215670993A>G | CA423425404 | USH2A | c.14112T>C (p.Pro4704=)
| gnomAD v4 |
| 1 | g.215670993A>T | CA423425405 | USH2A | c.14112T>A (p.Pro4704=)
| |
| 1 | g.215670994G>A | CA344840065 | USH2A | c.14111C>T (p.Pro4704Leu)
| COSMIC COSMIC |
| 1 | g.215670994G>C | CA344840066 | USH2A | c.14111C>G (p.Pro4704Arg)
| |
| 1 | g.215670994G>T | CA344840069 | USH2A | c.14111C>A (p.Pro4704His)
| |
| 1 | g.215670994_215670995insT | CA2573131545 | USH2A | c.14110_14111insA (p.Pro4704HisfsTer6)
| ClinVar dbSNP |
| 1 | g.215670995G>A | CA344840072 | USH2A | c.14110C>T (p.Pro4704Ser)
| dbSNP gnomAD v4 |
| 1 | g.215670995G>C | CA344840073 | USH2A | c.14110C>G (p.Pro4704Ala)
| |
| 1 | g.215670995G= | CA1220372122 | USH2A | c.14110C= (p.Pro4704=)
| |
| 1 | g.215670995G>T | CA344840076 | USH2A | c.14110C>A (p.Pro4704Thr)
| |
| 1 | g.215670996C>A | CA344840078 | USH2A | c.14109G>T (p.Leu4703Phe)
| gnomAD v4 |
| 1 | g.215670996C>G | CA344840079 | USH2A | c.14109G>C (p.Leu4703Phe)
| |
| 1 | g.215670996C>T | CA423425407 | USH2A | c.14109G>A (p.Leu4703=)
| gnomAD v4 |
| 1 | g.215670997A= | CA1143668973 | USH2A | c.14108T= (p.Leu4703=)
| |
| 1 | g.215670997A>C | CA344840082 | USH2A | c.14108T>G (p.Leu4703Trp)
| |
| 1 | g.215670997A>G | CA179505 | USH2A | c.14108T>C (p.Leu4703Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215670997A>T | CA344840085 | USH2A | c.14108T>A (p.Leu4703Ter)
| |
| 1 | g.215670998A= | CA1220372123 | USH2A | c.14107T= (p.Leu4703=)
| |
| 1 | g.215670998A>C | CA344840087 | USH2A | c.14107T>G (p.Leu4703Val)
| |
| 1 | g.215670998A>G | CA1393149 | USH2A | c.14107T>C (p.Leu4703=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215670998A>T | CA344840099 | USH2A | c.14107T>A (p.Leu4703Met)
| |
| 1 | g.215670999T>A | CA423425408 | USH2A | c.14106A>T (p.Leu4702=)
| |
| 1 | g.215670999T>C | CA1393150 | USH2A | c.14106A>G (p.Leu4702=)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.215670999T>G | CA423425410 | USH2A | c.14106A>C (p.Leu4702=)
| |
| 1 | g.215670999T= | CA1220372124 | USH2A | c.14106A= (p.Leu4702=)
| |
| 1 | g.215671000A>C | CA344840103 | USH2A | c.14105T>G (p.Leu4702Arg)
| gnomAD v4 |
| 1 | g.215671000A>G | CA344840104 | USH2A | c.14105T>C (p.Leu4702Pro)
| gnomAD v4 |
| 1 | g.215671000A>T | CA344840107 | USH2A | c.14105T>A (p.Leu4702Gln)
| |
| 1 | g.215671001G>A | CA423425411 | USH2A | c.14104C>T (p.Leu4702=)
| gnomAD v4 |
| 1 | g.215671001G>C | CA344840109 | USH2A | c.14104C>G (p.Leu4702Val)
| |
| 1 | g.215671001G>T | CA344840111 | USH2A | c.14104C>A (p.Leu4702Ile)
| |
| 1 | g.215671002T>A | CA344840115 | USH2A | c.14103A>T (p.Glu4701Asp)
| |
| 1 | g.215671002T>C | CA423425412 | USH2A | c.14103A>G (p.Glu4701=)
| ClinVar gnomAD v4 |
| 1 | g.215671002T>G | CA344840116 | USH2A | c.14103A>C (p.Glu4701Asp)
| |
| 1 | g.215671003T>A | CA344840118 | USH2A | c.14102A>T (p.Glu4701Val)
| |
| 1 | g.215671003T>C | CA344840119 | USH2A | c.14102A>G (p.Glu4701Gly)
| |
| 1 | g.215671003T>G | CA344840121 | USH2A | c.14102A>C (p.Glu4701Ala)
| |
| 1 | g.215671004C>A | CA344840124 | USH2A | c.14101G>T (p.Glu4701Ter)
| ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215671004C= | CA1143897242 | USH2A | c.14101G= (p.Glu4701=)
| |
| 1 | g.215671004C>G | CA344840128 | USH2A | c.14101G>C (p.Glu4701Gln)
| |
| 1 | g.215671004C>T | CA143336 | USH2A | c.14101G>A (p.Glu4701Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215671005G>A | CA1393151 | USH2A | c.14100C>T (p.Ser4700=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671005G>C | CA423425417 | USH2A | c.14100C>G (p.Ser4700=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215671005G= | CA1220372125 | USH2A | c.14100C= (p.Ser4700=)
| |
| 1 | g.215671005G>T | CA423425418 | USH2A | c.14100C>A (p.Ser4700=)
| |
| 1 | g.215671006G>A | CA344840138 | USH2A | c.14099C>T (p.Ser4700Phe)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215671006G>C | CA344840132 | USH2A | c.14099C>G (p.Ser4700Cys)
| |
| 1 | g.215671006G>T | CA344840135 | USH2A | c.14099C>A (p.Ser4700Tyr)
| |
| 1 | g.215671007A>C | CA344840141 | USH2A | c.14098T>G (p.Ser4700Ala)
| |
| 1 | g.215671007A>G | CA344840143 | USH2A | c.14098T>C (p.Ser4700Pro)
| |
| 1 | g.215671007A>T | CA344840146 | USH2A | c.14098T>A (p.Ser4700Thr)
| |
| 1 | g.215671008A>C | CA344840147 | USH2A | c.14097T>G (p.Asp4699Glu)
| |
| 1 | g.215671008A>G | CA423425420 | USH2A | c.14097T>C (p.Asp4699=)
| |
| 1 | g.215671008A>T | CA344840149 | USH2A | c.14097T>A (p.Asp4699Glu)
| |
| 1 | g.215671009T>A | CA344840151 | USH2A | c.14096A>T (p.Asp4699Val)
| dbSNP |
| 1 | g.215671009T>C | CA344840153 | USH2A | c.14096A>G (p.Asp4699Gly)
| |
| 1 | g.215671009T>G | CA1393152 | USH2A | c.14096A>C (p.Asp4699Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671009T= | CA1220372126 | USH2A | c.14096A= (p.Asp4699=)
| |
| 1 | g.215671010C>A | CA344840155 | USH2A | c.14095G>T (p.Asp4699Tyr)
| |
| 1 | g.215671010C>G | CA344840156 | USH2A | c.14095G>C (p.Asp4699His)
| |
| 1 | g.215671010C>T | CA344840158 | USH2A | c.14095G>A (p.Asp4699Asn)
| COSMIC COSMIC |
| 1 | g.215671011T>A | CA423425423 | USH2A | c.14094A>T (p.Ile4698=)
| |
| 1 | g.215671011T>C | CA344840160 | USH2A | c.14094A>G (p.Ile4698Met)
| |
| 1 | g.215671011T>G | CA423425425 | USH2A | c.14094A>C (p.Ile4698=)
| |
| 1 | g.215671012A>C | CA344840161 | USH2A | c.14093T>G (p.Ile4698Arg)
| |
| 1 | g.215671012A>G | CA344840165 | USH2A | c.14093T>C (p.Ile4698Thr)
| |
| 1 | g.215671012A>T | CA344840164 | USH2A | c.14093T>A (p.Ile4698Lys)
| COSMIC COSMIC |
| 1 | g.215671013T>A | CA344840167 | USH2A | c.14092A>T (p.Ile4698Leu)
| |
| 1 | g.215671013T>C | CA344840168 | USH2A | c.14092A>G (p.Ile4698Val)
| |
| 1 | g.215671013T>G | CA344840172 | USH2A | c.14092A>C (p.Ile4698Leu)
| |
| 1 | g.215671014A= | CA1220372127 | USH2A | c.14091T= (p.Phe4697=)
| |
| 1 | g.215671014A>C | CA344840173 | USH2A | c.14091T>G (p.Phe4697Leu)
| |
| 1 | g.215671014A>G | CA423425426 | USH2A | c.14091T>C (p.Phe4697=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671014A>T | CA344840177 | USH2A | c.14091T>A (p.Phe4697Leu)
| |
| 1 | g.215671017del | CA2499214434 | USH2A | c.14091del (p.Phe4697LeufsTer2)
| ClinVar dbSNP |
| 1 | g.215671015A>C | CA344840186 | USH2A | c.14090T>G (p.Phe4697Cys)
| |
| 1 | g.215671015A>G | CA344840188 | USH2A | c.14090T>C (p.Phe4697Ser)
| COSMIC COSMIC |
| 1 | g.215671015A>T | CA344840189 | USH2A | c.14090T>A (p.Phe4697Tyr)
| |
| 1 | g.215671016A>C | CA344840190 | USH2A | c.14089T>G (p.Phe4697Val)
| |
| 1 | g.215671016A>G | CA344840192 | USH2A | c.14089T>C (p.Phe4697Leu)
| |
| 1 | g.215671016A>T | CA344840194 | USH2A | c.14089T>A (p.Phe4697Ile)
| |
| 1 | g.215671017A>C | CA423425428 | USH2A | c.14088T>G (p.Ser4696=)
| |
| 1 | g.215671017A>G | CA423425430 | USH2A | c.14088T>C (p.Ser4696=)
| ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215671017A>T | CA423425431 | USH2A | c.14088T>A (p.Ser4696=)
| gnomAD v4 |
| 1 | g.215671018del | CA645519365 | USH2A | c.14087del (p.Ser4696PhefsTer3)
| ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215671018G>A | CA344840200 | USH2A | c.14087C>T (p.Ser4696Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671018G>C | CA344840195 | USH2A | c.14087C>G (p.Ser4696Cys)
| gnomAD v4 |
| 1 | g.215671018G= | CA1220372128 | USH2A | c.14087C= (p.Ser4696=)
| |
| 1 | g.215671018G>T | CA344840198 | USH2A | c.14087C>A (p.Ser4696Tyr)
| COSMIC |
| 1 | g.215671019A= | CA1220372129 | USH2A | c.14086T= (p.Ser4696=)
| |
| 1 | g.215671019A>C | CA344840202 | USH2A | c.14086T>G (p.Ser4696Ala)
| |
| 1 | g.215671019A>G | CA1393153 | USH2A | c.14086T>C (p.Ser4696Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671019A>T | CA344840205 | USH2A | c.14086T>A (p.Ser4696Thr)
| |
| 1 | g.215671020T>A | CA423425433 | USH2A | c.14085A>T (p.Thr4695=)
| |
| 1 | g.215671020T>C | CA423425434 | USH2A | c.14085A>G (p.Thr4695=)
| ClinVar gnomAD v4 |
| 1 | g.215671020T>G | CA423425435 | USH2A | c.14085A>C (p.Thr4695=)
| dbSNP |
| 1 | g.215671021G>A | CA344840210 | USH2A | c.14084C>T (p.Thr4695Ile)
| |
| 1 | g.215671021G>C | CA344840214 | USH2A | c.14084C>G (p.Thr4695Arg)
| |
| 1 | g.215671021G>T | CA344840211 | USH2A | c.14084C>A (p.Thr4695Lys)
| |
| 1 | g.215671022T>A | CA344840219 | USH2A | c.14083A>T (p.Thr4695Ser)
| |
| 1 | g.215671022T>C | CA344840221 | USH2A | c.14083A>G (p.Thr4695Ala)
| |
| 1 | g.215671022T>G | CA344840222 | USH2A | c.14083A>C (p.Thr4695Pro)
| |
| 1 | g.215671023T>A | CA423425439 | USH2A | c.14082A>T (p.Ser4694=)
| |
| 1 | g.215671023T>C | CA423425440 | USH2A | c.14082A>G (p.Ser4694=)
| |
| 1 | g.215671023T>G | CA423425441 | USH2A | c.14082A>C (p.Ser4694=)
| gnomAD v4 |
| 1 | g.215671024G>A | CA344840223 | USH2A | c.14081C>T (p.Ser4694Leu)
| |
| 1 | g.215671024G>C | CA344840224 | USH2A | c.14081C>G (p.Ser4694Ter)
| |
| 1 | g.215671024G>T | CA344840225 | USH2A | c.14081C>A (p.Ser4694Ter)
| |
| 1 | g.215671025A>C | CA344840228 | USH2A | c.14080T>G (p.Ser4694Ala)
| |
| 1 | g.215671025A>G | CA344840232 | USH2A | c.14080T>C (p.Ser4694Pro)
| ClinVar dbSNP |
| 1 | g.215671025A>T | CA344840233 | USH2A | c.14080T>A (p.Ser4694Thr)
| COSMIC |
| 1 | g.215671026G>A | CA1393154 | USH2A | c.14079C>T (p.Ser4693=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671026G>C | CA344840238 | USH2A | c.14079C>G (p.Ser4693Arg)
| |
| 1 | g.215671026G= | CA1220372130 | USH2A | c.14079C= (p.Ser4693=)
| |
| 1 | g.215671026G>T | CA344840241 | USH2A | c.14079C>A (p.Ser4693Arg)
| |
| 1 | g.215671027C>A | CA344840243 | USH2A | c.14078G>T (p.Ser4693Ile)
| |
| 1 | g.215671027C>G | CA344840249 | USH2A | c.14078G>C (p.Ser4693Thr)
| |
| 1 | g.215671027C>T | CA344840245 | USH2A | c.14078G>A (p.Ser4693Asn)
| gnomAD v4 |
| 1 | g.215671028T>A | CA344840251 | USH2A | c.14077A>T (p.Ser4693Cys)
| COSMIC |
| 1 | g.215671028T>C | CA344840253 | USH2A | c.14077A>G (p.Ser4693Gly)
| |
| 1 | g.215671028T>G | CA344840256 | USH2A | c.14077A>C (p.Ser4693Arg)
| |
| 1 | g.215671029T>A | CA423425447 | USH2A | c.14076A>T (p.Gly4692=)
| |
| 1 | g.215671029T>C | CA423425449 | USH2A | c.14076A>G (p.Gly4692=)
| |
| 1 | g.215671029T>G | CA423425452 | USH2A | c.14076A>C (p.Gly4692=)
| dbSNP gnomAD v4 |
| 1 | g.215671029T= | CA1220372131 | USH2A | c.14076A= (p.Gly4692=)
| |
| 1 | g.215671030C>A | CA344840257 | USH2A | c.14075G>T (p.Gly4692Val)
| |
| 1 | g.215671030C>G | CA344840261 | USH2A | c.14075G>C (p.Gly4692Ala)
| |
| 1 | g.215671030C>T | CA344840267 | USH2A | c.14075G>A (p.Gly4692Glu)
| |
