| 1 | g.215671122C>A | CA423426376 | USH2A | c.13983G>T (p.Leu4661=)
| |
| 1 | g.215671122C>G | CA423426377 | USH2A | c.13983G>C (p.Leu4661=)
| |
| 1 | g.215671122C>T | CA423426378 | USH2A | c.13983G>A (p.Leu4661=)
| |
| 1 | g.215671123A>C | CA344840876 | USH2A | c.13982T>G (p.Leu4661Arg)
| |
| 1 | g.215671123A>G | CA344840878 | USH2A | c.13982T>C (p.Leu4661Pro)
| |
| 1 | g.215671123A>T | CA344840880 | USH2A | c.13982T>A (p.Leu4661Gln)
| |
| 1 | g.215671124G>A | CA423426381 | USH2A | c.13981C>T (p.Leu4661=)
| |
| 1 | g.215671124G>C | CA344840885 | USH2A | c.13981C>G (p.Leu4661Val)
| |
| 1 | g.215671124G>T | CA344840886 | USH2A | c.13981C>A (p.Leu4661Met)
| |
| 1 | g.215671125C>A | CA37410129 | USH2A | c.13980G>T (p.Pro4660=)
| ClinVar dbSNP gnomAD v2 |
| 1 | g.215671125C= | CA1143462559 | USH2A | c.13980G= (p.Pro4660=)
| |
| 1 | g.215671125C>G | CA423426382 | USH2A | c.13980G>C (p.Pro4660=)
| |
| 1 | g.215671125C>T | CA1393168 | USH2A | c.13980G>A (p.Pro4660=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671126G>A | CA1393171 | USH2A | c.13979C>T (p.Pro4660Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671126G>C | CA1393170 | USH2A | c.13979C>G (p.Pro4660Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671126G= | CA1220372163 | USH2A | c.13979C= (p.Pro4660=)
| |
| 1 | g.215671126G>T | CA1393169 | USH2A | c.13979C>A (p.Pro4660Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671127G>A | CA344840895 | USH2A | c.13978C>T (p.Pro4660Ser)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215671127G>C | CA344840897 | USH2A | c.13978C>G (p.Pro4660Ala)
| |
| 1 | g.215671127G= | CA1220372164 | USH2A | c.13978C= (p.Pro4660=)
| |
| 1 | g.215671127G>T | CA344840896 | USH2A | c.13978C>A (p.Pro4660Thr)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215671128T>A | CA423426388 | USH2A | c.13977A>T (p.Gly4659=)
| |
| 1 | g.215671128T>C | CA423426386 | USH2A | c.13977A>G (p.Gly4659=)
| gnomAD v4 |
| 1 | g.215671128T>G | CA423426385 | USH2A | c.13977A>C (p.Gly4659=)
| dbSNP |
| 1 | g.215671128T= | CA1220372165 | USH2A | c.13977A= (p.Gly4659=)
| |
| 1 | g.215671129C>A | CA344840900 | USH2A | c.13976G>T (p.Gly4659Val)
| |
| 1 | g.215671129C= | CA1220372166 | USH2A | c.13976G= (p.Gly4659=)
| |
| 1 | g.215671129C>G | CA344840903 | USH2A | c.13976G>C (p.Gly4659Ala)
| |
| 1 | g.215671129C>T | CA1393172 | USH2A | c.13976G>A (p.Gly4659Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671130C>A | CA344840919 | USH2A | c.13975G>T (p.Gly4659Ter)
| |
| 1 | g.215671130C>G | CA344840921 | USH2A | c.13975G>C (p.Gly4659Arg)
| |
| 1 | g.215671130C>T | CA344840924 | USH2A | c.13975G>A (p.Gly4659Arg)
| gnomAD v4 COSMIC |
| 1 | g.215671131T>A | CA423426389 | USH2A | c.13974A>T (p.Thr4658=)
| |
| 1 | g.215671131T>C | CA423426390 | USH2A | c.13974A>G (p.Thr4658=)
| |
| 1 | g.215671131T>G | CA423426391 | USH2A | c.13974A>C (p.Thr4658=)
| |
| 1 | g.215671132G>A | CA344840927 | USH2A | c.13973C>T (p.Thr4658Ile)
| |
| 1 | g.215671132G>C | CA344840939 | USH2A | c.13973C>G (p.Thr4658Arg)
| |
| 1 | g.215671132G>T | CA344840942 | USH2A | c.13973C>A (p.Thr4658Lys)
| |
| 1 | g.215671133T>A | CA344840964 | USH2A | c.13972A>T (p.Thr4658Ser)
| |
| 1 | g.215671133T>C | CA344840966 | USH2A | c.13972A>G (p.Thr4658Ala)
| |
| 1 | g.215671133T>G | CA344840967 | USH2A | c.13972A>C (p.Thr4658Pro)
| |
| 1 | g.215671134C>A | CA344840973 | USH2A | c.13971G>T (p.Trp4657Cys)
| |
| 1 | g.215671134C>G | CA344840969 | USH2A | c.13971G>C (p.Trp4657Cys)
| |
| 1 | g.215671134C>T | CA344840971 | USH2A | c.13971G>A (p.Trp4657Ter)
| |
| 1 | g.215671135C>A | CA344840974 | USH2A | c.13970G>T (p.Trp4657Leu)
| |
| 1 | g.215671135C>G | CA344840975 | USH2A | c.13970G>C (p.Trp4657Ser)
| |
| 1 | g.215671135C>T | CA344840977 | USH2A | c.13970G>A (p.Trp4657Ter)
| |
| 1 | g.215671136A>C | CA344840979 | USH2A | c.13969T>G (p.Trp4657Gly)
| |
| 1 | g.215671136A>G | CA344840980 | USH2A | c.13969T>C (p.Trp4657Arg)
| ClinVar |
| 1 | g.215671136A>T | CA344840981 | USH2A | c.13969T>A (p.Trp4657Arg)
| COSMIC |
| 1 | g.215671137C>A | CA344840984 | USH2A | c.13968G>T (p.Leu4656Phe)
| COSMIC |
| 1 | g.215671137C>G | CA344840987 | USH2A | c.13968G>C (p.Leu4656Phe)
| |
| 1 | g.215671137C>T | CA423426394 | USH2A | c.13968G>A (p.Leu4656=)
| |
| 1 | g.215671138A>C | CA344840990 | USH2A | c.13967T>G (p.Leu4656Trp)
| |
| 1 | g.215671138A>G | CA344840992 | USH2A | c.13967T>C (p.Leu4656Ser)
| |
| 1 | g.215671138A>T | CA344840996 | USH2A | c.13967T>A (p.Leu4656Ter)
| |
| 1 | g.215671139A>C | CA344841005 | USH2A | c.13966T>G (p.Leu4656Val)
| |
| 1 | g.215671139A>G | CA423426396 | USH2A | c.13966T>C (p.Leu4656=)
| gnomAD v4 |
| 1 | g.215671139A>T | CA344841006 | USH2A | c.13966T>A (p.Leu4656Met)
| |
| 1 | g.215671140A>C | CA423426397 | USH2A | c.13965T>G (p.Leu4655=)
| |
| 1 | g.215671140A>G | CA423426398 | USH2A | c.13965T>C (p.Leu4655=)
| |
| 1 | g.215671140A>T | CA423426399 | USH2A | c.13965T>A (p.Leu4655=)
| |
| 1 | g.215671141A>C | CA344841007 | USH2A | c.13964T>G (p.Leu4655Arg)
| |
| 1 | g.215671141A>G | CA344841008 | USH2A | c.13964T>C (p.Leu4655Pro)
| ClinVar |
| 1 | g.215671141A>T | CA344841009 | USH2A | c.13964T>A (p.Leu4655His)
| |
| 1 | g.215671142G>A | CA344841010 | USH2A | c.13963C>T (p.Leu4655Phe)
| |
| 1 | g.215671142G>C | CA344841011 | USH2A | c.13963C>G (p.Leu4655Val)
| dbSNP |
| 1 | g.215671142G= | CA1220372167 | USH2A | c.13963C= (p.Leu4655=)
| |
| 1 | g.215671142G>T | CA344841012 | USH2A | c.13963C>A (p.Leu4655Ile)
| |
| 1 | g.215671143A>C | CA423426402 | USH2A | c.13962T>G (p.Ser4654=)
| |
| 1 | g.215671143A>G | CA423426403 | USH2A | c.13962T>C (p.Ser4654=)
| dbSNP |
| 1 | g.215671143A>T | CA423426401 | USH2A | c.13962T>A (p.Ser4654=)
| |
| 1 | g.215671144G>A | CA344841014 | USH2A | c.13961C>T (p.Ser4654Phe)
| |
| 1 | g.215671144G>C | CA344841015 | USH2A | c.13961C>G (p.Ser4654Cys)
| |
| 1 | g.215671144G>T | CA344841018 | USH2A | c.13961C>A (p.Ser4654Tyr)
| COSMIC COSMIC |
| 1 | g.215671145A= | CA1220372168 | USH2A | c.13960T= (p.Ser4654=)
| |
| 1 | g.215671145A>C | CA344841020 | USH2A | c.13960T>G (p.Ser4654Ala)
| |
| 1 | g.215671145A>G | CA344841021 | USH2A | c.13960T>C (p.Ser4654Pro)
| |
| 1 | g.215671145A>T | CA344841022 | USH2A | c.13960T>A (p.Ser4654Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671146A>C | CA423426404 | USH2A | c.13959T>G (p.Val4653=)
| |
| 1 | g.215671146A>G | CA423426405 | USH2A | c.13959T>C (p.Val4653=)
| |
| 1 | g.215671146A>T | CA423426406 | USH2A | c.13959T>A (p.Val4653=)
| |
| 1 | g.215671147A>C | CA344841031 | USH2A | c.13958T>G (p.Val4653Gly)
| |
| 1 | g.215671147A>G | CA344841027 | USH2A | c.13958T>C (p.Val4653Ala)
| |
| 1 | g.215671147A>T | CA344841029 | USH2A | c.13958T>A (p.Val4653Asp)
| |
| 1 | g.215671148C>A | CA344841033 | USH2A | c.13957G>T (p.Val4653Phe)
| |
| 1 | g.215671148C= | CA1220372169 | USH2A | c.13957G= (p.Val4653=)
| |
| 1 | g.215671148C>G | CA344841036 | USH2A | c.13957G>C (p.Val4653Leu)
| ClinVar gnomAD v4 COSMIC COSMIC |
| 1 | g.215671148C>T | CA344841041 | USH2A | c.13957G>A (p.Val4653Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671149A= | CA1220372170 | USH2A | c.13956T= (p.Thr4652=)
| |
| 1 | g.215671149A>C | CA423426408 | USH2A | c.13956T>G (p.Thr4652=)
| ClinVar gnomAD v4 |
| 1 | g.215671149A>G | CA423426410 | USH2A | c.13956T>C (p.Thr4652=)
| |
| 1 | g.215671149A>T | CA423426411 | USH2A | c.13956T>A (p.Thr4652=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671150G>A | CA344841044 | USH2A | c.13955C>T (p.Thr4652Ile)
| |
| 1 | g.215671150G>C | CA344841045 | USH2A | c.13955C>G (p.Thr4652Ser)
| |
| 1 | g.215671150G= | CA1142251615 | USH2A | c.13955C= (p.Thr4652=)
| |
| 1 | g.215671150G>T | CA1393173 | USH2A | c.13955C>A (p.Thr4652Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215671151T>A | CA344841046 | USH2A | c.13954A>T (p.Thr4652Ser)
| |
| 1 | g.215671151T>C | CA344841047 | USH2A | c.13954A>G (p.Thr4652Ala)
| COSMIC COSMIC |
| 1 | g.215671151T>G | CA344841048 | USH2A | c.13954A>C (p.Thr4652Pro)
| |
| 1 | g.215671152del | CA2586968120 | USH2A | c.13954del (p.Thr4652LeufsTer26)
| |
| 1 | g.215671152T>A | CA423426412 | USH2A | c.13953A>T (p.Pro4651=)
| |
| 1 | g.215671152T>C | CA423426413 | USH2A | c.13953A>G (p.Pro4651=)
| |
| 1 | g.215671152T>G | CA423426415 | USH2A | c.13953A>C (p.Pro4651=)
| |
| 1 | g.215671153G>A | CA344841049 | USH2A | c.13952C>T (p.Pro4651Leu)
| |
| 1 | g.215671153G>C | CA344841050 | USH2A | c.13952C>G (p.Pro4651Arg)
| |
| 1 | g.215671153G>T | CA344841052 | USH2A | c.13952C>A (p.Pro4651Gln)
| |
| 1 | g.215671154G>A | CA344841059 | USH2A | c.13951C>T (p.Pro4651Ser)
| COSMIC COSMIC |
| 1 | g.215671154G>C | CA1393174 | USH2A | c.13951C>G (p.Pro4651Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215671154G= | CA1145875076 | USH2A | c.13951C= (p.Pro4651=)
| |
| 1 | g.215671154G>T | CA344841056 | USH2A | c.13951C>A (p.Pro4651Thr)
| gnomAD v4 |
| 1 | g.215671155C>A | CA344841066 | USH2A | c.13950G>T (p.Gln4650His)
| COSMIC COSMIC |
| 1 | g.215671155C>G | CA344841064 | USH2A | c.13950G>C (p.Gln4650His)
| |
| 1 | g.215671155C>T | CA423426417 | USH2A | c.13950G>A (p.Gln4650=)
| |
| 1 | g.215671156T>A | CA344841069 | USH2A | c.13949A>T (p.Gln4650Leu)
| |
| 1 | g.215671156T>C | CA344841071 | USH2A | c.13949A>G (p.Gln4650Arg)
| |
| 1 | g.215671156T>G | CA344841075 | USH2A | c.13949A>C (p.Gln4650Pro)
| |
| 1 | g.215671157G>A | CA344841086 | USH2A | c.13948C>T (p.Gln4650Ter)
| ClinVar dbSNP |
| 1 | g.215671157G>C | CA344841090 | USH2A | c.13948C>G (p.Gln4650Glu)
| |
| 1 | g.215671157G= | CA1220372171 | USH2A | c.13948C= (p.Gln4650=)
| |
| 1 | g.215671157G>T | CA344841092 | USH2A | c.13948C>A (p.Gln4650Lys)
| |
| 1 | g.215671158G>A | CA37410145 | USH2A | c.13947C>T (p.Phe4649=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671158G>C | CA344841096 | USH2A | c.13947C>G (p.Phe4649Leu)
| |
| 1 | g.215671158G= | CA1220372172 | USH2A | c.13947C= (p.Phe4649=)
| |
| 1 | g.215671158G>T | CA344841099 | USH2A | c.13947C>A (p.Phe4649Leu)
| |
| 1 | g.215671159A>C | CA344841102 | USH2A | c.13946T>G (p.Phe4649Cys)
| |
| 1 | g.215671159A>G | CA344841104 | USH2A | c.13946T>C (p.Phe4649Ser)
| |
| 1 | g.215671159A>T | CA344841108 | USH2A | c.13946T>A (p.Phe4649Tyr)
| |
| 1 | g.215671160A>C | CA344841118 | USH2A | c.13945T>G (p.Phe4649Val)
| |
| 1 | g.215671160A>G | CA344841111 | USH2A | c.13945T>C (p.Phe4649Leu)
| |
| 1 | g.215671160A>T | CA344841114 | USH2A | c.13945T>A (p.Phe4649Ile)
| |
| 1 | g.215671161T>A | CA423426421 | USH2A | c.13944A>T (p.Gly4648=)
| |
| 1 | g.215671161T>C | CA423426422 | USH2A | c.13944A>G (p.Gly4648=)
| |
| 1 | g.215671161T>G | CA423426423 | USH2A | c.13944A>C (p.Gly4648=)
| |
| 1 | g.215671161_215671163delinsTCC | CA1220372173 | USH2A | c.13942_13944delinsGGA (p.Gly4648=)
| |
| 1 | g.215671162C>A | CA344841121 | USH2A | c.13943G>T (p.Gly4648Val)
| COSMIC COSMIC |
| 1 | g.215671162C>G | CA344841125 | USH2A | c.13943G>C (p.Gly4648Ala)
| |
| 1 | g.215671162C>T | CA344841132 | USH2A | c.13943G>A (p.Gly4648Glu)
| COSMIC COSMIC |
| 1 | g.215671162_215671163delinsA | CA916082112 | USH2A | c.13942_13943delinsT (p.Gly4648TyrfsTer30)
| ClinVar dbSNP |
| 1 | g.215671163del | CA529002011 | USH2A | c.13943del (p.Gly4648AspfsTer30)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671163C>A | CA344841138 | USH2A | c.13942G>T (p.Gly4648Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215671163C= | CA1220372174 | USH2A | c.13942G= (p.Gly4648=)
| |
| 1 | g.215671163C>G | CA344841140 | USH2A | c.13942G>C (p.Gly4648Arg)
| COSMIC COSMIC |
| 1 | g.215671163C>T | CA344841143 | USH2A | c.13942G>A (p.Gly4648Arg)
| gnomAD v4 |
| 1 | g.215671164T>A | CA423426427 | USH2A | c.13941A>T (p.Gly4647=)
| |
| 1 | g.215671164T>C | CA423426428 | USH2A | c.13941A>G (p.Gly4647=)
| |
| 1 | g.215671164T>G | CA423426429 | USH2A | c.13941A>C (p.Gly4647=)
| |
| 1 | g.215671165C>A | CA344841146 | USH2A | c.13940G>T (p.Gly4647Val)
| |
| 1 | g.215671165C= | CA1220372175 | USH2A | c.13940G= (p.Gly4647=)
| |
| 1 | g.215671165C>G | CA344841148 | USH2A | c.13940G>C (p.Gly4647Ala)
| |
| 1 | g.215671165C>T | CA344841152 | USH2A | c.13940G>A (p.Gly4647Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215671166C>A | CA344841159 | USH2A | c.13939G>T (p.Gly4647Ter)
| |
| 1 | g.215671166C= | CA1141997102 | USH2A | c.13939G= (p.Gly4647=)
| |
| 1 | g.215671166C>G | CA1393175 | USH2A | c.13939G>C (p.Gly4647Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671166C>T | CA344841164 | USH2A | c.13939G>A (p.Gly4647Arg)
| gnomAD v4 |
| 1 | g.215671167T>A | CA423426431 | USH2A | c.13938A>T (p.Pro4646=)
| |
| 1 | g.215671167T>C | CA423426432 | USH2A | c.13938A>G (p.Pro4646=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671167T>G | CA423426433 | USH2A | c.13938A>C (p.Pro4646=)
| |
| 1 | g.215671167T= | CA1220372176 | USH2A | c.13938A= (p.Pro4646=)
| |
| 1 | g.215671168G>A | CA344841181 | USH2A | c.13937C>T (p.Pro4646Leu)
| |
| 1 | g.215671168G>C | CA344841183 | USH2A | c.13937C>G (p.Pro4646Arg)
| |
| 1 | g.215671168G>T | CA344841180 | USH2A | c.13937C>A (p.Pro4646Gln)
| |
| 1 | g.215671169G>A | CA344841186 | USH2A | c.13936C>T (p.Pro4646Ser)
| gnomAD v4 |
| 1 | g.215671169G>C | CA344841190 | USH2A | c.13936C>G (p.Pro4646Ala)
| |
| 1 | g.215671169G= | CA1220372177 | USH2A | c.13936C= (p.Pro4646=)
| |
| 1 | g.215671169G>T | CA1393176 | USH2A | c.13936C>A (p.Pro4646Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671170A= | CA1220372178 | USH2A | c.13935T= (p.Ala4645=)
| |
| 1 | g.215671170A>C | CA423426438 | USH2A | c.13935T>G (p.Ala4645=)
| |
| 1 | g.215671170A>G | CA423426437 | USH2A | c.13935T>C (p.Ala4645=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671170A>T | CA423426435 | USH2A | c.13935T>A (p.Ala4645=)
| |
| 1 | g.215671171G>A | CA344841200 | USH2A | c.13934C>T (p.Ala4645Val)
| |
| 1 | g.215671171G>C | CA344841204 | USH2A | c.13934C>G (p.Ala4645Gly)
| dbSNP |
| 1 | g.215671171G= | CA1220372179 | USH2A | c.13934C= (p.Ala4645=)
| |
| 1 | g.215671171G>T | CA344841208 | USH2A | c.13934C>A (p.Ala4645Asp)
| |
| 1 | g.215671172C>A | CA344841218 | USH2A | c.13933G>T (p.Ala4645Ser)
| |
| 1 | g.215671172C>G | CA344841212 | USH2A | c.13933G>C (p.Ala4645Pro)
| |
| 1 | g.215671172C>T | CA344841216 | USH2A | c.13933G>A (p.Ala4645Thr)
| |
| 1 | g.215671173C>A | CA344841231 | USH2A | c.13932G>T (p.Met4644Ile)
| gnomAD v4 |
| 1 | g.215671173C>G | CA344841233 | USH2A | c.13932G>C (p.Met4644Ile)
| |
| 1 | g.215671173C>T | CA344841235 | USH2A | c.13932G>A (p.Met4644Ile)
| gnomAD v4 |
| 1 | g.215671174A>C | CA344841243 | USH2A | c.13931T>G (p.Met4644Arg)
| |
| 1 | g.215671174A>G | CA344841244 | USH2A | c.13931T>C (p.Met4644Thr)
| gnomAD v4 |
| 1 | g.215671174A>T | CA344841245 | USH2A | c.13931T>A (p.Met4644Lys)
| COSMIC COSMIC |
| 1 | g.215671175T>A | CA344841246 | USH2A | c.13930A>T (p.Met4644Leu)
| |
| 1 | g.215671175T>C | CA344841250 | USH2A | c.13930A>G (p.Met4644Val)
| |
| 1 | g.215671175T>G | CA344841248 | USH2A | c.13930A>C (p.Met4644Leu)
| |
| 1 | g.215671176T>A | CA344841253 | USH2A | c.13929A>T (p.Gln4643His)
| |
| 1 | g.215671176T>C | CA423426448 | USH2A | c.13929A>G (p.Gln4643=)
| |
| 1 | g.215671176T>G | CA344841255 | USH2A | c.13929A>C (p.Gln4643His)
| |
| 1 | g.215671177T>A | CA344841260 | USH2A | c.13928A>T (p.Gln4643Leu)
| |
| 1 | g.215671177T>C | CA344841262 | USH2A | c.13928A>G (p.Gln4643Arg)
| |
| 1 | g.215671177T>G | CA344841266 | USH2A | c.13928A>C (p.Gln4643Pro)
| |
| 1 | g.215671178G>A | CA344841270 | USH2A | c.13927C>T (p.Gln4643Ter)
| |
| 1 | g.215671178G>C | CA344841273 | USH2A | c.13927C>G (p.Gln4643Glu)
| |
| 1 | g.215671178G>T | CA344841276 | USH2A | c.13927C>A (p.Gln4643Lys)
| |
| 1 | g.215671179T>A | CA1393177 | USH2A | c.13926A>T (p.Val4642=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671179T>C | CA423426454 | USH2A | c.13926A>G (p.Val4642=)
| |
| 1 | g.215671179T>G | CA423426455 | USH2A | c.13926A>C (p.Val4642=)
| |
| 1 | g.215671179T= | CA1220372180 | USH2A | c.13926A= (p.Val4642=)
| |
| 1 | g.215671179dup | CA2586968121 | USH2A | c.13926dup (p.Gln4643ThrfsTer?)
| |
| 1 | g.215671179_215671180dup | CA2580062060 | USH2A | c.13925_13926dup (p.Gln4643TyrfsTer?)
| ClinVar |
| 1 | g.215671180A>C | CA344841282 | USH2A | c.13925T>G (p.Val4642Gly)
| |
| 1 | g.215671180A>G | CA344841288 | USH2A | c.13925T>C (p.Val4642Ala)
| gnomAD v4 |
| 1 | g.215671180A>T | CA344841290 | USH2A | c.13925T>A (p.Val4642Glu)
| |
| 1 | g.215671181C>A | CA344841293 | USH2A | c.13924G>T (p.Val4642Leu)
| |
| 1 | g.215671181C= | CA1220372181 | USH2A | c.13924G= (p.Val4642=)
| |
| 1 | g.215671181C>G | CA344841300 | USH2A | c.13924G>C (p.Val4642Leu)
| |
| 1 | g.215671181C>T | CA344841296 | USH2A | c.13924G>A (p.Val4642Ile)
| dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215671182C>A | CA344841302 | USH2A | c.13923G>T (p.Glu4641Asp)
| |
| 1 | g.215671182C>G | CA344841304 | USH2A | c.13923G>C (p.Glu4641Asp)
| |
| 1 | g.215671182C>T | CA423426457 | USH2A | c.13923G>A (p.Glu4641=)
| |
| 1 | g.215671183T>A | CA344841307 | USH2A | c.13922A>T (p.Glu4641Val)
| |
| 1 | g.215671183T>C | CA344841312 | USH2A | c.13922A>G (p.Glu4641Gly)
| |
| 1 | g.215671183T>G | CA344841309 | USH2A | c.13922A>C (p.Glu4641Ala)
| |
| 1 | g.215671184C>A | CA344841314 | USH2A | c.13921G>T (p.Glu4641Ter)
| |
| 1 | g.215671184C>G | CA344841318 | USH2A | c.13921G>C (p.Glu4641Gln)
| |
| 1 | g.215671184C>T | CA344841315 | USH2A | c.13921G>A (p.Glu4641Lys)
| gnomAD v4 |
| 1 | g.215671185C>A | CA423426459 | USH2A | c.13920G>T (p.Leu4640=)
| |
| 1 | g.215671185C>G | CA423426460 | USH2A | c.13920G>C (p.Leu4640=)
| |
| 1 | g.215671185C>T | CA423426458 | USH2A | c.13920G>A (p.Leu4640=)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215671186A>C | CA344841323 | USH2A | c.13919T>G (p.Leu4640Arg)
| |
| 1 | g.215671186A>G | CA344841333 | USH2A | c.13919T>C (p.Leu4640Pro)
| gnomAD v4 |
| 1 | g.215671186A>T | CA344841336 | USH2A | c.13919T>A (p.Leu4640Gln)
| |
| 1 | g.215671187G>A | CA423426464 | USH2A | c.13918C>T (p.Leu4640=)
| |
| 1 | g.215671187G>C | CA344841343 | USH2A | c.13918C>G (p.Leu4640Val)
| |
| 1 | g.215671187G>T | CA344841351 | USH2A | c.13918C>A (p.Leu4640Met)
| |
| 1 | g.215671188A= | CA1220372182 | USH2A | c.13917T= (p.His4639=)
| |
| 1 | g.215671188A>C | CA344841355 | USH2A | c.13917T>G (p.His4639Gln)
| |
| 1 | g.215671188A>G | CA423426466 | USH2A | c.13917T>C (p.His4639=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671188A>T | CA344841357 | USH2A | c.13917T>A (p.His4639Gln)
| |
| 1 | g.215671189T>A | CA37410157 | USH2A | c.13916A>T (p.His4639Leu)
| dbSNP gnomAD v4 |
| 1 | g.215671189T>C | CA344841361 | USH2A | c.13916A>G (p.His4639Arg)
| gnomAD v4 |
| 1 | g.215671189T>G | CA344841362 | USH2A | c.13916A>C (p.His4639Pro)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215671189T= | CA1220372183 | USH2A | c.13916A= (p.His4639=)
| |
| 1 | g.215671190G>A | CA344841363 | USH2A | c.13915C>T (p.His4639Tyr)
| dbSNP gnomAD v2 |
| 1 | g.215671190G>C | CA344841364 | USH2A | c.13915C>G (p.His4639Asp)
| |
| 1 | g.215671190G= | CA1143386857 | USH2A | c.13915C= (p.His4639=)
| |
| 1 | g.215671190G>T | CA1393178 | USH2A | c.13915C>A (p.His4639Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671191T>A | CA423426469 | USH2A | c.13914A>T (p.Pro4638=)
| |
| 1 | g.215671191T>C | CA423426470 | USH2A | c.13914A>G (p.Pro4638=)
| gnomAD v4 |
| 1 | g.215671191T>G | CA423426471 | USH2A | c.13914A>C (p.Pro4638=)
| |
| 1 | g.215671192G>A | CA344841367 | USH2A | c.13913C>T (p.Pro4638Leu)
| |
| 1 | g.215671192G>C | CA344841365 | USH2A | c.13913C>G (p.Pro4638Arg)
| |
| 1 | g.215671192G>T | CA344841366 | USH2A | c.13913C>A (p.Pro4638Gln)
| gnomAD v4 |
| 1 | g.215671193G>A | CA344841368 | USH2A | c.13912C>T (p.Pro4638Ser)
| gnomAD v4 |
| 1 | g.215671193G>C | CA344841369 | USH2A | c.13912C>G (p.Pro4638Ala)
| |
| 1 | g.215671193G>T | CA344841370 | USH2A | c.13912C>A (p.Pro4638Thr)
| COSMIC COSMIC |
| 1 | g.215671194A>C | CA423426477 | USH2A | c.13911T>G (p.Pro4637=)
| ClinVar gnomAD v4 |
| 1 | g.215671194A>G | CA423426478 | USH2A | c.13911T>C (p.Pro4637=)
| ClinVar dbSNP |
| 1 | g.215671194A>T | CA423426479 | USH2A | c.13911T>A (p.Pro4637=)
| |
| 1 | g.215671195G>A | CA344841372 | USH2A | c.13910C>T (p.Pro4637Leu)
| |
| 1 | g.215671195G>C | CA344841374 | USH2A | c.13910C>G (p.Pro4637Arg)
| |
| 1 | g.215671195G>T | CA344841377 | USH2A | c.13910C>A (p.Pro4637His)
| |
| 1 | g.215671199del | CA423426480 | USH2A | c.13910del (p.Pro4637LeufsTer?)
| COSMIC |
| 1 | g.215671196G>A | CA1393179 | USH2A | c.13909C>T (p.Pro4637Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671196G>C | CA344841383 | USH2A | c.13909C>G (p.Pro4637Ala)
| |
| 1 | g.215671196G= | CA1220372184 | USH2A | c.13909C= (p.Pro4637=)
| |
| 1 | g.215671196G>T | CA344841384 | USH2A | c.13909C>A (p.Pro4637Thr)
| COSMIC COSMIC |
| 1 | g.215671197G>A | CA423426482 | USH2A | c.13908C>T (p.Pro4636=)
| |
| 1 | g.215671197G>C | CA423426483 | USH2A | c.13908C>G (p.Pro4636=)
| ClinVar dbSNP |
| 1 | g.215671197G>T | CA423426485 | USH2A | c.13908C>A (p.Pro4636=)
| |
| 1 | g.215671198G>A | CA1393180 | USH2A | c.13907C>T (p.Pro4636Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671198G>C | CA344841387 | USH2A | c.13907C>G (p.Pro4636Arg)
| gnomAD v4 |
| 1 | g.215671198G= | CA1142374476 | USH2A | c.13907C= (p.Pro4636=)
| |
| 1 | g.215671198G>T | CA344841390 | USH2A | c.13907C>A (p.Pro4636His)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215671199G>A | CA1393181 | USH2A | c.13906C>T (p.Pro4636Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671199G>C | CA344841397 | USH2A | c.13906C>G (p.Pro4636Ala)
| |
| 1 | g.215671199G= | CA1220372185 | USH2A | c.13906C= (p.Pro4636=)
| |
| 1 | g.215671199G>T | CA344841395 | USH2A | c.13906C>A (p.Pro4636Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671200T>A | CA344841399 | USH2A | c.13905A>T (p.Gln4635His)
| |
| 1 | g.215671200T>C | CA423426487 | USH2A | c.13905A>G (p.Gln4635=)
| COSMIC COSMIC |
| 1 | g.215671200T>G | CA344841401 | USH2A | c.13905A>C (p.Gln4635His)
| dbSNP |
| 1 | g.215671200T= | CA1220372186 | USH2A | c.13905A= (p.Gln4635=)
| |
| 1 | g.215671201T>A | CA344841404 | USH2A | c.13904A>T (p.Gln4635Leu)
| |
| 1 | g.215671201T>C | CA344841406 | USH2A | c.13904A>G (p.Gln4635Arg)
| |
| 1 | g.215671201T>G | CA344841410 | USH2A | c.13904A>C (p.Gln4635Pro)
| |
| 1 | g.215671202G>A | CA344841416 | USH2A | c.13903C>T (p.Gln4635Ter)
| |
| 1 | g.215671202G>C | CA344841418 | USH2A | c.13903C>G (p.Gln4635Glu)
| |
| 1 | g.215671202G>T | CA344841420 | USH2A | c.13903C>A (p.Gln4635Lys)
| |
| 1 | g.215671203C>A | CA344841424 | USH2A | c.13902G>T (p.Met4634Ile)
| |
| 1 | g.215671203C>G | CA344841428 | USH2A | c.13902G>C (p.Met4634Ile)
| |
| 1 | g.215671203C>T | CA344841430 | USH2A | c.13902G>A (p.Met4634Ile)
| |
| 1 | g.215671205_215671221del | CA2499214435 | USH2A | c.13886_13902del (p.Glu4629AlafsTer?)
| ClinVar dbSNP |
| 1 | g.215671204A>C | CA344841440 | USH2A | c.13901T>G (p.Met4634Arg)
| gnomAD v4 |
| 1 | g.215671204A>G | CA344841433 | USH2A | c.13901T>C (p.Met4634Thr)
| |
| 1 | g.215671204A>T | CA344841437 | USH2A | c.13901T>A (p.Met4634Lys)
| |
| 1 | g.215671205T>A | CA344841443 | USH2A | c.13900A>T (p.Met4634Leu)
| |
| 1 | g.215671205T>C | CA344841447 | USH2A | c.13900A>G (p.Met4634Val)
| |
| 1 | g.215671205T>G | CA344841449 | USH2A | c.13900A>C (p.Met4634Leu)
| |
| 1 | g.215671206C>A | CA344841452 | USH2A | c.13899G>T (p.Leu4633Phe)
| COSMIC COSMIC |
| 1 | g.215671206C>G | CA344841456 | USH2A | c.13899G>C (p.Leu4633Phe)
| |
| 1 | g.215671206C>T | CA423426496 | USH2A | c.13899G>A (p.Leu4633=)
| |
| 1 | g.215671206_215671207del | CA913072748 | USH2A | c.13898_13899del (p.Leu4633TyrfsTer?)
| |
| 1 | g.215671206_215671207delinsCA | CA1220372187 | USH2A | c.13898_13899delinsTG (p.Leu4633=)
| |
| 1 | g.215671207A>C | CA344841461 | USH2A | c.13898T>G (p.Leu4633Trp)
| |
| 1 | g.215671207A>G | CA344841463 | USH2A | c.13898T>C (p.Leu4633Ser)
| |
| 1 | g.215671207A>T | CA344841466 | USH2A | c.13898T>A (p.Leu4633Ter)
| |
| 1 | g.215671209del | CA658822638 | USH2A | c.13898del (p.Leu4633Ter)
| ClinVar dbSNP |
| 1 | g.215671208A= | CA1220372188 | USH2A | c.13897T= (p.Leu4633=)
| |
| 1 | g.215671208A>C | CA344841469 | USH2A | c.13897T>G (p.Leu4633Val)
| |
| 1 | g.215671208A>G | CA1393182 | USH2A | c.13897T>C (p.Leu4633=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671208A>T | CA344841474 | USH2A | c.13897T>A (p.Leu4633Met)
| |
| 1 | g.215671209A>C | CA423426498 | USH2A | c.13896T>G (p.Pro4632=)
| |
| 1 | g.215671209A>G | CA423426499 | USH2A | c.13896T>C (p.Pro4632=)
| |
| 1 | g.215671209A>T | CA423426501 | USH2A | c.13896T>A (p.Pro4632=)
| |
| 1 | g.215671210G>A | CA344841479 | USH2A | c.13895C>T (p.Pro4632Leu)
| |
| 1 | g.215671210G>C | CA344841483 | USH2A | c.13895C>G (p.Pro4632Arg)
| |
| 1 | g.215671210G>T | CA344841476 | USH2A | c.13895C>A (p.Pro4632His)
| gnomAD v4 |
| 1 | g.215671211G>A | CA344841491 | USH2A | c.13894C>T (p.Pro4632Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671211G>C | CA344841488 | USH2A | c.13894C>G (p.Pro4632Ala)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215671211G= | CA1220372189 | USH2A | c.13894C= (p.Pro4632=)
| |
| 1 | g.215671211G>T | CA344841490 | USH2A | c.13894C>A (p.Pro4632Thr)
| gnomAD v4 |
| 1 | g.215671212T>A | CA423426503 | USH2A | c.13893A>T (p.Ala4631=)
| |
| 1 | g.215671212T>C | CA423426504 | USH2A | c.13893A>G (p.Ala4631=)
| COSMIC COSMIC |
| 1 | g.215671212T>G | CA423426505 | USH2A | c.13893A>C (p.Ala4631=)
| |
| 1 | g.215671213G>A | CA344841493 | USH2A | c.13892C>T (p.Ala4631Val)
| |
| 1 | g.215671213G>C | CA344841496 | USH2A | c.13892C>G (p.Ala4631Gly)
| |
| 1 | g.215671213G>T | CA344841499 | USH2A | c.13892C>A (p.Ala4631Glu)
| |
| 1 | g.215671214C>A | CA344841501 | USH2A | c.13891G>T (p.Ala4631Ser)
| |
| 1 | g.215671214C= | CA1149060914 | USH2A | c.13891G= (p.Ala4631=)
| |
| 1 | g.215671214C>G | CA344841502 | USH2A | c.13891G>C (p.Ala4631Pro)
| |
| 1 | g.215671214C>T | CA1393183 | USH2A | c.13891G>A (p.Ala4631Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671215A= | CA1220372190 | USH2A | c.13890T= (p.Ile4630=)
| |
| 1 | g.215671215A>C | CA344841506 | USH2A | c.13890T>G (p.Ile4630Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671215A>G | CA423426507 | USH2A | c.13890T>C (p.Ile4630=)
| |
| 1 | g.215671215A>T | CA423426508 | USH2A | c.13890T>A (p.Ile4630=)
| |
| 1 | g.215671216A= | CA1220372191 | USH2A | c.13889T= (p.Ile4630=)
| |
| 1 | g.215671216A>C | CA344841509 | USH2A | c.13889T>G (p.Ile4630Ser)
| |
| 1 | g.215671216A>G | CA344841522 | USH2A | c.13889T>C (p.Ile4630Thr)
| dbSNP |
| 1 | g.215671216A>T | CA344841524 | USH2A | c.13889T>A (p.Ile4630Asn)
| |
| 1 | g.215671217T>A | CA344841540 | USH2A | c.13888A>T (p.Ile4630Phe)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671217T>C | CA344841529 | USH2A | c.13888A>G (p.Ile4630Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671217T>G | CA344841538 | USH2A | c.13888A>C (p.Ile4630Leu)
| |
| 1 | g.215671217T= | CA1220372192 | USH2A | c.13888A= (p.Ile4630=)
| |
| 1 | g.215671218C>A | CA344841544 | USH2A | c.13887G>T (p.Glu4629Asp)
| ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215671218C= | CA1220372193 | USH2A | c.13887G= (p.Glu4629=)
| |
| 1 | g.215671218C>G | CA344841547 | USH2A | c.13887G>C (p.Glu4629Asp)
| |
| 1 | g.215671218C>T | CA423426514 | USH2A | c.13887G>A (p.Glu4629=)
| |
| 1 | g.215671219T>A | CA344841552 | USH2A | c.13886A>T (p.Glu4629Val)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215671219T>C | CA344841554 | USH2A | c.13886A>G (p.Glu4629Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671219T>G | CA344841563 | USH2A | c.13886A>C (p.Glu4629Ala)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215671219T= | CA1220372194 | USH2A | c.13886A= (p.Glu4629=)
| |
| 1 | g.215671220C>A | CA344841566 | USH2A | c.13885G>T (p.Glu4629Ter)
| |
| 1 | g.215671220C= | CA1220372195 | USH2A | c.13885G= (p.Glu4629=)
| |
| 1 | g.215671220C>G | CA344841568 | USH2A | c.13885G>C (p.Glu4629Gln)
| |
| 1 | g.215671220C>T | CA37410195 | USH2A | c.13885G>A (p.Glu4629Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671221A>C | CA423426519 | USH2A | c.13884T>G (p.Pro4628=)
| |
| 1 | g.215671221A>G | CA423426520 | USH2A | c.13884T>C (p.Pro4628=)
| |
| 1 | g.215671221A>T | CA423426521 | USH2A | c.13884T>A (p.Pro4628=)
| COSMIC COSMIC |
| 1 | g.215671222G>A | CA344841570 | USH2A | c.13883C>T (p.Pro4628Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671222G>C | CA344841572 | USH2A | c.13883C>G (p.Pro4628Arg)
| |
| 1 | g.215671222G= | CA1220372196 | USH2A | c.13883C= (p.Pro4628=)
| |
| 1 | g.215671222G>T | CA344841574 | USH2A | c.13883C>A (p.Pro4628His)
| |
