| 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)
| |
| 1 | g.215671031C>A | CA344840269 | USH2A | c.14074G>T (p.Gly4692Ter)
| |
| 1 | g.215671031C= | CA1140615963 | USH2A | c.14074G= (p.Gly4692=)
| |
| 1 | g.215671031C>G | CA344840271 | USH2A | c.14074G>C (p.Gly4692Arg)
| |
| 1 | g.215671031C>T | CA143334 | USH2A | c.14074G>A (p.Gly4692Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.[215671031C>T;215675519del] | CA658832924 | USH2A | c.[12394del;14074G>A] (p.Leu4132TrpfsTer35)
| |
| 1 | g.215671032G>A | CA1393155 | USH2A | c.14073C>T (p.Asn4691=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215671032G>C | CA344840283 | USH2A | c.14073C>G (p.Asn4691Lys)
| |
| 1 | g.215671032G= | CA1143725073 | USH2A | c.14073C= (p.Asn4691=)
| |
| 1 | g.215671032G>T | CA344840276 | USH2A | c.14073C>A (p.Asn4691Lys)
| gnomAD v4 |
| 1 | g.215671033T>A | CA344840287 | USH2A | c.14072A>T (p.Asn4691Ile)
| |
| 1 | g.215671033T>C | CA344840288 | USH2A | c.14072A>G (p.Asn4691Ser)
| |
| 1 | g.215671033T>G | CA344840292 | USH2A | c.14072A>C (p.Asn4691Thr)
| |
| 1 | g.215671034T>A | CA344840295 | USH2A | c.14071A>T (p.Asn4691Tyr)
| |
| 1 | g.215671034T>C | CA344840297 | USH2A | c.14071A>G (p.Asn4691Asp)
| |
| 1 | g.215671034T>G | CA344840298 | USH2A | c.14071A>C (p.Asn4691His)
| |
| 1 | g.215671035A>C | CA344840300 | USH2A | c.14070T>G (p.Tyr4690Ter)
| |
| 1 | g.215671035A>G | CA423425456 | USH2A | c.14070T>C (p.Tyr4690=)
| gnomAD v4 |
| 1 | g.215671035A>T | CA344840303 | USH2A | c.14070T>A (p.Tyr4690Ter)
| |
| 1 | g.215671036T>A | CA344840308 | USH2A | c.14069A>T (p.Tyr4690Phe)
| |
| 1 | g.215671036T>C | CA1393156 | USH2A | c.14069A>G (p.Tyr4690Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671036T>G | CA344840310 | USH2A | c.14069A>C (p.Tyr4690Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671036T= | CA1142354644 | USH2A | c.14069A= (p.Tyr4690=)
| |
| 1 | g.215671037A>C | CA344840315 | USH2A | c.14068T>G (p.Tyr4690Asp)
| |
| 1 | g.215671037A>G | CA344840316 | USH2A | c.14068T>C (p.Tyr4690His)
| |
| 1 | g.215671037A>T | CA344840312 | USH2A | c.14068T>A (p.Tyr4690Asn)
| |
| 1 | g.215671038G>A | CA423425458 | USH2A | c.14067C>T (p.Ile4689=)
| |
| 1 | g.215671038G>C | CA344840317 | USH2A | c.14067C>G (p.Ile4689Met)
| |
| 1 | g.215671038G>T | CA423425459 | USH2A | c.14067C>A (p.Ile4689=)
| dbSNP |
| 1 | g.215671039A>C | CA344840318 | USH2A | c.14066T>G (p.Ile4689Ser)
| |
| 1 | g.215671039A>G | CA344840319 | USH2A | c.14066T>C (p.Ile4689Thr)
| ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215671039A>T | CA344840320 | USH2A | c.14066T>A (p.Ile4689Asn)
| |
| 1 | g.215671040T>A | CA344840324 | USH2A | c.14065A>T (p.Ile4689Phe)
| |
| 1 | g.215671040T>C | CA1393157 | USH2A | c.14065A>G (p.Ile4689Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671040T>G | CA344840321 | USH2A | c.14065A>C (p.Ile4689Leu)
| |
| 1 | g.215671040T= | CA1144095853 | USH2A | c.14065A= (p.Ile4689=)
| |
| 1 | g.215671041del | CA2586968112 | USH2A | c.14065del (p.Ile4689SerfsTer10)
| |
| 1 | g.215671041T>A | CA423426251 | USH2A | c.14064A>T (p.Leu4688=)
| |
| 1 | g.215671041T>C | CA423426252 | USH2A | c.14064A>G (p.Leu4688=)
| |
| 1 | g.215671041T>G | CA423426253 | USH2A | c.14064A>C (p.Leu4688=)
| |
| 1 | g.215671041_215671042delinsTA | CA1220372132 | USH2A | c.14063_14064delinsTA (p.Leu4688=)
| |
| 1 | g.215671042del | CA1220372133 | USH2A | c.14063del (p.Leu4688GlnfsTer11)
| dbSNP |
| 1 | g.215671042A>C | CA344840326 | USH2A | c.14063T>G (p.Leu4688Arg)
| |
| 1 | g.215671042A>G | CA344840328 | USH2A | c.14063T>C (p.Leu4688Pro)
| gnomAD v4 |
| 1 | g.215671042A>T | CA344840330 | USH2A | c.14063T>A (p.Leu4688Gln)
| |
| 1 | g.215671043G>A | CA423426261 | USH2A | c.14062C>T (p.Leu4688=)
| |
| 1 | g.215671043G>C | CA344840332 | USH2A | c.14062C>G (p.Leu4688Val)
| |
| 1 | g.215671043G>T | CA344840334 | USH2A | c.14062C>A (p.Leu4688Ile)
| |
| 1 | g.215671043_215671095del | CA2586968113 | USH2A | c.14010_14062del (p.Glu4671AsnfsTer3)
| |
| 1 | g.215671044G>A | CA1393158 | USH2A | c.14061C>T (p.Val4687=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671044G>C | CA423426265 | USH2A | c.14061C>G (p.Val4687=)
| |
| 1 | g.215671044G= | CA1220372134 | USH2A | c.14061C= (p.Val4687=)
| |
| 1 | g.215671044G>T | CA1393159 | USH2A | c.14061C>A (p.Val4687=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671045A>C | CA344840343 | USH2A | c.14060T>G (p.Val4687Gly)
| |
| 1 | g.215671045A>G | CA344840342 | USH2A | c.14060T>C (p.Val4687Ala)
| gnomAD v4 |
| 1 | g.215671045A>T | CA344840340 | USH2A | c.14060T>A (p.Val4687Asp)
| |
| 1 | g.215671046C>A | CA344840350 | USH2A | c.14059G>T (p.Val4687Phe)
| gnomAD v4 |
| 1 | g.215671046C>G | CA344840347 | USH2A | c.14059G>C (p.Val4687Leu)
| |
| 1 | g.215671046C>T | CA344840353 | USH2A | c.14059G>A (p.Val4687Ile)
| |
| 1 | g.215671047del | CA2586968114 | USH2A | c.14058del (p.Val4687SerfsTer2)
| |
| 1 | g.215671047T>A | CA1393160 | USH2A | c.14058A>T (p.Pro4686=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671047T>C | CA423426267 | USH2A | c.14058A>G (p.Pro4686=)
| gnomAD v4 |
| 1 | g.215671047T>G | CA423426268 | USH2A | c.14058A>C (p.Pro4686=)
| |
| 1 | g.215671047T= | CA1220372135 | USH2A | c.14058A= (p.Pro4686=)
| |
| 1 | g.215671048G>A | CA344840360 | USH2A | c.14057C>T (p.Pro4686Leu)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215671048G>C | CA344840363 | USH2A | c.14057C>G (p.Pro4686Arg)
| |
| 1 | g.215671048G= | CA1220372136 | USH2A | c.14057C= (p.Pro4686=)
| |
| 1 | g.215671048G>T | CA344840366 | USH2A | c.14057C>A (p.Pro4686Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671049G>A | CA344840369 | USH2A | c.14056C>T (p.Pro4686Ser)
| COSMIC COSMIC |
| 1 | g.215671049G>C | CA344840370 | USH2A | c.14056C>G (p.Pro4686Ala)
| |
| 1 | g.215671049G>T | CA344840373 | USH2A | c.14056C>A (p.Pro4686Thr)
| |
| 1 | g.215671050A>C | CA344840375 | USH2A | c.14055T>G (p.Asn4685Lys)
| |
| 1 | g.215671050A>G | CA423426275 | USH2A | c.14055T>C (p.Asn4685=)
| |
| 1 | g.215671050A>T | CA344840377 | USH2A | c.14055T>A (p.Asn4685Lys)
| |
| 1 | g.215671051T>A | CA1393161 | USH2A | c.14054A>T (p.Asn4685Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671051T>C | CA344840383 | USH2A | c.14054A>G (p.Asn4685Ser)
| dbSNP |
| 1 | g.215671051T>G | CA344840388 | USH2A | c.14054A>C (p.Asn4685Thr)
| |
| 1 | g.215671051T= | CA1143012833 | USH2A | c.14054A= (p.Asn4685=)
| |
| 1 | g.215671052T>A | CA344840395 | USH2A | c.14053A>T (p.Asn4685Tyr)
| |
| 1 | g.215671052T>C | CA344840391 | USH2A | c.14053A>G (p.Asn4685Asp)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215671052T>G | CA344840393 | USH2A | c.14053A>C (p.Asn4685His)
| gnomAD v4 |
| 1 | g.215671052T= | CA1220372137 | USH2A | c.14053A= (p.Asn4685=)
| |
| 1 | g.215671053G>A | CA423426280 | USH2A | c.14052C>T (p.Ser4684=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671053G>C | CA423426281 | USH2A | c.14052C>G (p.Ser4684=)
| |
| 1 | g.215671053G= | CA1220372138 | USH2A | c.14052C= (p.Ser4684=)
| |
| 1 | g.215671053G>T | CA423426282 | USH2A | c.14052C>A (p.Ser4684=)
| |
| 1 | g.215671054G>A | CA1393162 | USH2A | c.14051C>T (p.Ser4684Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671054G>C | CA344840399 | USH2A | c.14051C>G (p.Ser4684Cys)
| |
| 1 | g.215671054G= | CA1220372139 | USH2A | c.14051C= (p.Ser4684=)
| |
| 1 | g.215671054G>T | CA344840401 | USH2A | c.14051C>A (p.Ser4684Tyr)
| |
| 1 | g.215671055A= | CA1220372140 | USH2A | c.14050T= (p.Ser4684=)
| |
| 1 | g.215671055A>C | CA344840405 | USH2A | c.14050T>G (p.Ser4684Ala)
| |
| 1 | g.215671055A>G | CA344840408 | USH2A | c.14050T>C (p.Ser4684Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671055A>T | CA344840410 | USH2A | c.14050T>A (p.Ser4684Thr)
| |
| 1 | g.215671056T>A | CA344840412 | USH2A | c.14049A>T (p.Lys4683Asn)
| |
| 1 | g.215671056T>C | CA423426285 | USH2A | c.14049A>G (p.Lys4683=)
| |
| 1 | g.215671056T>G | CA344840414 | USH2A | c.14049A>C (p.Lys4683Asn)
| |
| 1 | g.215671059del | CA2580062045 | USH2A | c.14049del (p.Lys4683AsnfsTer6)
| ClinVar |
| 1 | g.215671057T>A | CA344840417 | USH2A | c.14048A>T (p.Lys4683Ile)
| |
| 1 | g.215671057T>C | CA344840418 | USH2A | c.14048A>G (p.Lys4683Arg)
| |
| 1 | g.215671057T>G | CA344840421 | USH2A | c.14048A>C (p.Lys4683Thr)
| |
| 1 | g.215671058T>A | CA344840426 | USH2A | c.14047A>T (p.Lys4683Ter)
| |
| 1 | g.215671058T>C | CA344840428 | USH2A | c.14047A>G (p.Lys4683Glu)
| |
| 1 | g.215671058T>G | CA344840424 | USH2A | c.14047A>C (p.Lys4683Gln)
| |
| 1 | g.215671059T>A | CA344840431 | USH2A | c.14046A>T (p.Arg4682Ser)
| |
| 1 | g.215671059T>C | CA423426290 | USH2A | c.14046A>G (p.Arg4682=)
| |
| 1 | g.215671059T>G | CA344840432 | USH2A | c.14046A>C (p.Arg4682Ser)
| |
| 1 | g.215671060C>A | CA344840435 | USH2A | c.14045G>T (p.Arg4682Ile)
| |
| 1 | g.215671060C>G | CA344840437 | USH2A | c.14045G>C (p.Arg4682Thr)
| COSMIC COSMIC |
| 1 | g.215671060C>T | CA344840441 | USH2A | c.14045G>A (p.Arg4682Lys)
| |
| 1 | g.215671061T>A | CA344840444 | USH2A | c.14044A>T (p.Arg4682Ter)
| |
| 1 | g.215671061T>C | CA344840446 | USH2A | c.14044A>G (p.Arg4682Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671061T>G | CA423426293 | USH2A | c.14044A>C (p.Arg4682=)
| |
| 1 | g.215671061T= | CA1220372141 | USH2A | c.14044A= (p.Arg4682=)
| |
| 1 | g.215671062A>C | CA423426297 | USH2A | c.14043T>G (p.Pro4681=)
| |
| 1 | g.215671062A>G | CA423426299 | USH2A | c.14043T>C (p.Pro4681=)
| |
| 1 | g.215671062A>T | CA423426301 | USH2A | c.14043T>A (p.Pro4681=)
| COSMIC COSMIC |
| 1 | g.215671063G>A | CA344840449 | USH2A | c.14042C>T (p.Pro4681Leu)
| gnomAD v4 |
| 1 | g.215671063G>C | CA344840452 | USH2A | c.14042C>G (p.Pro4681Arg)
| |
| 1 | g.215671063G>T | CA344840457 | USH2A | c.14042C>A (p.Pro4681His)
| |
| 1 | g.215671063_215671065del | CA645519366 | USH2A | c.14040_14042del (p.Gln4680_Pro4681delinsHis)
| COSMIC COSMIC |
| 1 | g.215671064G>A | CA344840458 | USH2A | c.14041C>T (p.Pro4681Ser)
| |
| 1 | g.215671064G>C | CA344840460 | USH2A | c.14041C>G (p.Pro4681Ala)
| |
| 1 | g.215671064G= | CA1220372142 | USH2A | c.14041C= (p.Pro4681=)
| |
| 1 | g.215671064G>T | CA344840463 | USH2A | c.14041C>A (p.Pro4681Thr)
| dbSNP gnomAD v2 |
| 1 | g.215671065C>A | CA344840471 | USH2A | c.14040G>T (p.Gln4680His)
| |
| 1 | g.215671065C>G | CA344840468 | USH2A | c.14040G>C (p.Gln4680His)
| |
| 1 | g.215671065C>T | CA423426302 | USH2A | c.14040G>A (p.Gln4680=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215671066T>A | CA344840472 | USH2A | c.14039A>T (p.Gln4680Leu)
| |
| 1 | g.215671066T>C | CA344840474 | USH2A | c.14039A>G (p.Gln4680Arg)
| |
| 1 | g.215671066T>G | CA344840476 | USH2A | c.14039A>C (p.Gln4680Pro)
| |
| 1 | g.215671066_215671067delinsAA | CA645519367 | USH2A | c.14038_14039delinsTT (p.Gln4680Leu)
| COSMIC COSMIC |
| 1 | g.215671067G>A | CA344840479 | USH2A | c.14038C>T (p.Gln4680Ter)
| ClinVar dbSNP |
| 1 | g.215671067G>C | CA344840483 | USH2A | c.14038C>G (p.Gln4680Glu)
| |
| 1 | g.215671067G= | CA1220372143 | USH2A | c.14038C= (p.Gln4680=)
| |
| 1 | g.215671067G>T | CA344840493 | USH2A | c.14038C>A (p.Gln4680Lys)
| |
| 1 | g.215671068A>C | CA423426308 | USH2A | c.14037T>G (p.Thr4679=)
| |
| 1 | g.215671068A>G | CA423426310 | USH2A | c.14037T>C (p.Thr4679=)
| |
| 1 | g.215671068A>T | CA423426309 | USH2A | c.14037T>A (p.Thr4679=)
| |
| 1 | g.215671069G>A | CA344840502 | USH2A | c.14036C>T (p.Thr4679Ile)
| gnomAD v4 |
| 1 | g.215671069G>C | CA344840497 | USH2A | c.14036C>G (p.Thr4679Ser)
| |
| 1 | g.215671069G= | CA1220372144 | USH2A | c.14036C= (p.Thr4679=)
| |
| 1 | g.215671069G>T | CA1393163 | USH2A | c.14036C>A (p.Thr4679Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671070T>A | CA344840503 | USH2A | c.14035A>T (p.Thr4679Ser)
| dbSNP |
| 1 | g.215671070T>C | CA344840505 | USH2A | c.14035A>G (p.Thr4679Ala)
| |
| 1 | g.215671070T>G | CA344840509 | USH2A | c.14035A>C (p.Thr4679Pro)
| |
| 1 | g.215671070T= | CA1220372145 | USH2A | c.14035A= (p.Thr4679=)
| |
| 1 | g.215671071T>A | CA423426315 | USH2A | c.14034A>T (p.Ala4678=)
| |
| 1 | g.215671071T>C | CA423426316 | USH2A | c.14034A>G (p.Ala4678=)
| |
| 1 | g.215671071T>G | CA423426317 | USH2A | c.14034A>C (p.Ala4678=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671071T= | CA1220372146 | USH2A | c.14034A= (p.Ala4678=)
| |
| 1 | g.215671072G>A | CA37410076 | USH2A | c.14033C>T (p.Ala4678Val)
| dbSNP gnomAD v4 |
| 1 | g.215671072G>C | CA37410080 | USH2A | c.14033C>G (p.Ala4678Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671072G= | CA1142076640 | USH2A | c.14033C= (p.Ala4678=)
| |
| 1 | g.215671072G>T | CA344840517 | USH2A | c.14033C>A (p.Ala4678Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671073C>A | CA344840523 | USH2A | c.14032G>T (p.Ala4678Ser)
| |
| 1 | g.215671073C= | CA1220372147 | USH2A | c.14032G= (p.Ala4678=)
| |
| 1 | g.215671073C>G | CA344840528 | USH2A | c.14032G>C (p.Ala4678Pro)
| ClinVar dbSNP |
| 1 | g.215671073C>T | CA344840520 | USH2A | c.14032G>A (p.Ala4678Thr)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215671074T>A | CA423426320 | USH2A | c.14031A>T (p.Ile4677=)
| |
| 1 | g.215671074T>C | CA344840531 | USH2A | c.14031A>G (p.Ile4677Met)
| |
| 1 | g.215671074T>G | CA423426322 | USH2A | c.14031A>C (p.Ile4677=)
| |
| 1 | g.215671074T= | CA1144229157 | USH2A | c.14031A= (p.Ile4677=)
| |
| 1 | g.215671074dup | CA262088 | USH2A | c.14031dup (p.Ala4678SerfsTer5)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215671075_215671078del | CA2650500256 | USH2A | c.14028_14031del (p.Ile4677GlnfsTer11)
| gnomAD v4 |
