| 1 | g.215779796_215779805dup | CA2650503001 | USH2A | c.10939+40_10939+49dup (n.10939+40_10939+49dup)
| gnomAD v4 |
| 1 | g.215779799G>A | CA1393874 | USH2A | c.10939+44C>T (n.10939+44C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779799G= | CA1140635524 | USH2A | c.10939+44C= (n.10939+44C=)
| |
| 1 | g.215779800A>G | CA2650503005 | USH2A | c.10939+43T>C (n.10939+43T>C)
| gnomAD v4 |
| 1 | g.215779801C= | CA1220414312 | USH2A | c.10939+42G= (n.10939+42G=)
| |
| 1 | g.215779801C>T | CA1393875 | USH2A | c.10939+42G>A (n.10939+42G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779802A>G | CA2650503006 | USH2A | c.10939+41T>C (n.10939+41T>C)
| gnomAD v4 |
| 1 | g.215779803_215779804dup | CA1220414314 | USH2A | c.10939+40_10939+41dup (n.10939+40_10939+41dup)
| dbSNP gnomAD v4 |
| 1 | g.215779803G>A | CA2650503007 | USH2A | c.10939+40C>T (n.10939+40C>T)
| gnomAD v4 |
| 1 | g.215779803G>T | CA2650503008 | USH2A | c.10939+40C>A (n.10939+40C>A)
| gnomAD v4 |
| 1 | g.215779804A= | CA1220414316 | USH2A | c.10939+39T= (n.10939+39T=)
| |
| 1 | g.215779804A>G | CA37435610 | USH2A | c.10939+39T>C (n.10939+39T>C)
| dbSNP gnomAD v4 |
| 1 | g.215779804A>T | CA528711278 | USH2A | c.10939+39T>A (n.10939+39T>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779805C= | CA1220414318 | USH2A | c.10939+38G= (n.10939+38G=)
| |
| 1 | g.215779805C>G | CA2747720732 | USH2A | c.10939+38G>C (n.10939+38G>C)
| |
| 1 | g.215779805C>T | CA528711280 | USH2A | c.10939+38G>A (n.10939+38G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779806T>C | CA2650503009 | USH2A | c.10939+37A>G (n.10939+37A>G)
| gnomAD v4 |
| 1 | g.215779807C>T | CA2650503010 | USH2A | c.10939+36G>A (n.10939+36G>A)
| gnomAD v4 |
| 1 | g.215779808C>A | CA2650503011 | USH2A | c.10939+35G>T (n.10939+35G>T)
| gnomAD v4 |
| 1 | g.215779808C= | CA1148460387 | USH2A | c.10939+35G= (n.10939+35G=)
| |
| 1 | g.215779808C>T | CA37435614 | USH2A | c.10939+35G>A (n.10939+35G>A)
| dbSNP |
| 1 | g.215779809del | CA2574132978 | USH2A | c.10939+34del (n.10939+34del)
| |
| 1 | g.215779810C>G | CA2512775316 | USH2A | c.10939+33G>C (n.10939+33G>C)
| |
| 1 | g.215779810C>T | CA2650503012 | USH2A | c.10939+33G>A (n.10939+33G>A)
| gnomAD v4 |
| 1 | g.215779812A= | CA1220414321 | USH2A | c.10939+31T= (n.10939+31T=)
| |
| 1 | g.215779812A>G | CA2574132979 | USH2A | c.10939+31T>C (n.10939+31T>C)
| |
| 1 | g.215779812A>T | CA1393876 | USH2A | c.10939+31T>A (n.10939+31T>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779813G>T | CA2650503013 | USH2A | c.10939+30C>A (n.10939+30C>A)
| gnomAD v4 |
| 1 | g.215779814T>C | CA1393877 | USH2A | c.10939+29A>G (n.10939+29A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779814T= | CA1220414325 | USH2A | c.10939+29A= (n.10939+29A=)
| |
| 1 | g.215779815A= | CA1220414328 | USH2A | c.10939+28T= (n.10939+28T=)
| |
| 1 | g.215779815A>G | CA528711281 | USH2A | c.10939+28T>C (n.10939+28T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779816G>A | CA2698064172 | USH2A | c.10939+27C>T (n.10939+27C>T)
| dbSNP |
| 1 | g.215779817G>A | CA2698064469 | USH2A | c.10939+26C>T (n.10939+26C>T)
| dbSNP |
| 1 | g.215779817G>T | CA2747720733 | USH2A | c.10939+26C>A (n.10939+26C>A)
| |
| 1 | g.215779818A>T | CA2574132980 | USH2A | c.10939+25T>A (n.10939+25T>A)
| |
| 1 | g.215779819T>A | CA2650503014 | USH2A | c.10939+24A>T (n.10939+24A>T)
| gnomAD v4 |
| 1 | g.215779819T>C | CA1393878 | USH2A | c.10939+24A>G (n.10939+24A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779819T>G | CA2747720734 | USH2A | c.10939+24A>C (n.10939+24A>C)
| |
| 1 | g.215779819T= | CA1220414330 | USH2A | c.10939+24A= (n.10939+24A=)
| |
| 1 | g.215779820T>C | CA2650503015 | USH2A | c.10939+23A>G (n.10939+23A>G)
| gnomAD v4 |
| 1 | g.215779822C>A | CA2650503016 | USH2A | c.10939+21G>T (n.10939+21G>T)
| gnomAD v4 |
| 1 | g.215779822_215779823insT | CA646412341 | USH2A | c.10939+20_10939+21insA (n.10939+20_10939+21insA)
| COSMIC |
| 1 | g.215779823C= | CA1220414337 | USH2A | c.10939+20G= (n.10939+20G=)
| |
| 1 | g.215779823C>T | CA528711283 | USH2A | c.10939+20G>A (n.10939+20G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779823_215779824delinsCT | CA1220414335 | USH2A | c.10939+19_10939+20delinsAG (n.10939+19_10939+20delinsAG)
| |
| 1 | g.215779823_215779824insA | CA1393882 | USH2A | c.10939+19_10939+20insT (n.10939+19_10939+20insT)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779823_215779824insGT | CA1393881 | USH2A | c.10939+19_10939+20insAC (n.10939+19_10939+20insAC)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779824T>A | CA1393883 | USH2A | c.10939+19A>T (n.10939+19A>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779824T>C | CA1220414348 | USH2A | c.10939+19A>G (n.10939+19A>G)
| ClinVar dbSNP |
| 1 | g.215779824T>G | CA2650503017 | USH2A | c.10939+19A>C (n.10939+19A>C)
| gnomAD v4 |
| 1 | g.215779824T= | CA1220414349 | USH2A | c.10939+19A= (n.10939+19A=)
| |
| 1 | g.215779832_215779833insTTTTTTTTTT | CA2650503021 | USH2A | c.10939+19_10939+20insAAAAAAAAAA (n.10939+19_10939+20insAAAAAAAAAA)
| gnomAD v4 |
| 1 | g.215779832_215779833insTTTTTTTTTTTTTT | CA2650503019 | USH2A | c.10939+19_10939+20insAAAAAAAAAAAAAA (n.10939+19_10939+20insAAAAAAAAAAAAAA)
| gnomAD v4 |
| 1 | g.215779832dup | CA1393880 | USH2A | c.10939+19dup (n.10939+19dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779831_215779832dup | CA2650503020 | USH2A | c.10939+18_10939+19dup (n.10939+18_10939+19dup)
| gnomAD v4 |
| 1 | g.215779824_215779832dup | CA916402741 | USH2A | c.10939+11_10939+19dup (n.10939+11_10939+19dup)
| dbSNP gnomAD v4 |
| 1 | g.215779832del | CA1393879 | USH2A | c.10939+19del (n.10939+19del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215779831_215779832del | CA2650503018 | USH2A | c.10939+18_10939+19del (n.10939+18_10939+19del)
| gnomAD v4 |
| 1 | g.215779825T>C | CA528711287 | USH2A | c.10939+18A>G (n.10939+18A>G)
| dbSNP gnomAD v2 |
| 1 | g.215779825T= | CA1220414358 | USH2A | c.10939+18A= (n.10939+18A=)
| |
| 1 | g.215779827T>C | CA2697554876 | USH2A | c.10939+16A>G (n.10939+16A>G)
| ClinVar |
| 1 | g.215779828T>G | CA2574132981 | USH2A | c.10939+15A>C (n.10939+15A>C)
| |
| 1 | g.215779830T>G | CA528711289 | USH2A | c.10939+13A>C (n.10939+13A>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779830T= | CA1220414361 | USH2A | c.10939+13A= (n.10939+13A=)
| |
| 1 | g.215779831T>A | CA1393884 | USH2A | c.10939+12A>T (n.10939+12A>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779831T>C | CA2580062040 | USH2A | c.10939+12A>G (n.10939+12A>G)
| ClinVar |
| 1 | g.215779831T>G | CA2650503022 | USH2A | c.10939+12A>C (n.10939+12A>C)
| gnomAD v4 |
| 1 | g.215779831T= | CA1148420320 | USH2A | c.10939+12A= (n.10939+12A=)
| |
| 1 | g.215779832T>G | CA2650503023 | USH2A | c.10939+11A>C (n.10939+11A>C)
| gnomAD v4 |
| 1 | g.215779833del | CA2650503025 | USH2A | c.10939+10del (n.10939+10del)
| ClinVar gnomAD v4 |
| 1 | g.215779833G>A | CA2580062041 | USH2A | c.10939+10C>T (n.10939+10C>T)
| ClinVar |
| 1 | g.215779833G= | CA1220414369 | USH2A | c.10939+10C= (n.10939+10C=)
| |
| 1 | g.215779833G>T | CA1393885 | USH2A | c.10939+10C>A (n.10939+10C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779833dup | CA2650503024 | USH2A | c.10939+10dup (n.10939+10dup)
| gnomAD v4 |
| 1 | g.215779835T>G | CA2650503026 | USH2A | c.10939+8A>C (n.10939+8A>C)
| gnomAD v4 |
| 1 | g.215779837T>A | CA2650503027 | USH2A | c.10939+6A>T (n.10939+6A>T)
| gnomAD v4 |
| 1 | g.215779838C>A | CA2580062042 | USH2A | c.10939+5G>T (n.10939+5G>T)
| ClinVar |
| 1 | g.215779838C= | CA1220414372 | USH2A | c.10939+5G= (n.10939+5G=)
| |
| 1 | g.215779838C>T | CA1393886 | USH2A | c.10939+5G>A (n.10939+5G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779839T>C | CA2650503028 | USH2A | c.10939+4A>G (n.10939+4A>G)
| gnomAD v4 |
| 1 | g.215779840C= | CA1220414375 | USH2A | c.10939+3G= (n.10939+3G=)
| |
| 1 | g.215779840C>T | CA1012188880 | USH2A | c.10939+3G>A (n.10939+3G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215779841A= | CA1220414378 | USH2A | c.10939+2T= (n.10939+2T=)
| |
| 1 | g.215779841A>C | CA344832941 | USH2A | c.10939+2T>G (n.10939+2T>G)
| ClinVar dbSNP |
| 1 | g.215779841A>G | CA344832943 | USH2A | c.10939+2T>C (n.10939+2T>C)
| ClinVar dbSNP |
| 1 | g.215779841A>T | CA344832946 | USH2A | c.10939+2T>A (n.10939+2T>A)
| gnomAD v3 gnomAD v4 |
| 1 | g.215779842C>A | CA344832947 | USH2A | c.10939+1G>T (n.10939+1G>T)
| ClinVar |
| 1 | g.215779842C>G | CA344832948 | USH2A | c.10939+1G>C (n.10939+1G>C)
| |
| 1 | g.215779842C>T | CA344832949 | USH2A | c.10939+1G>A (n.10939+1G>A)
| |
| 1 | g.215779843C>A | CA344832954 | USH2A | c.10939G>T (p.Gly3647Cys)
| |
| 1 | g.215779843C>G | CA344832950 | USH2A | c.10939G>C (p.Gly3647Arg)
| |
| 1 | g.215779843C>T | CA344832951 | USH2A | c.10939G>A (p.Gly3647Ser)
| gnomAD v4 |
| 1 | g.215779844T>A | CA1393887 | USH2A | c.10938A>T (p.Thr3646=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779844T>C | CA423312872 | USH2A | c.10938A>G (p.Thr3646=)
| gnomAD v4 |
| 1 | g.215779844T>G | CA423312874 | USH2A | c.10938A>C (p.Thr3646=)
| |
| 1 | g.215779844T= | CA1148234038 | USH2A | c.10938A= (p.Thr3646=)
| |
| 1 | g.215779845G>A | CA344832960 | USH2A | c.10937C>T (p.Thr3646Ile)
| |
| 1 | g.215779845G>C | CA344832962 | USH2A | c.10937C>G (p.Thr3646Arg)
| |
| 1 | g.215779845G>T | CA344832963 | USH2A | c.10937C>A (p.Thr3646Lys)
| |
| 1 | g.215779846T>A | CA344832968 | USH2A | c.10936A>T (p.Thr3646Ser)
| |
| 1 | g.215779846T>C | CA344832972 | USH2A | c.10936A>G (p.Thr3646Ala)
| |
| 1 | g.215779846T>G | CA344832975 | USH2A | c.10936A>C (p.Thr3646Pro)
| |
| 1 | g.215779847G>A | CA423312876 | USH2A | c.10935C>T (p.Val3645=)
| |
| 1 | g.215779847G>C | CA423312877 | USH2A | c.10935C>G (p.Val3645=)
| gnomAD v4 |
| 1 | g.215779847G>T | CA423312878 | USH2A | c.10935C>A (p.Val3645=)
| gnomAD v4 |
| 1 | g.215779847_215779848dup | CA2697554877 | USH2A | c.10934_10935dup (p.Thr3646SerfsTer29)
| ClinVar |
| 1 | g.215779848A= | CA1220414384 | USH2A | c.10934T= (p.Val3645=)
| |
| 1 | g.215779848A>C | CA344832981 | USH2A | c.10934T>G (p.Val3645Gly)
| |
| 1 | g.215779848A>G | CA344832986 | USH2A | c.10934T>C (p.Val3645Ala)
| COSMIC COSMIC |
| 1 | g.215779848A>T | CA344832989 | USH2A | c.10934T>A (p.Val3645Asp)
| ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215779849C>A | CA344832990 | USH2A | c.10933G>T (p.Val3645Phe)
| |
| 1 | g.215779849C= | CA1144229147 | USH2A | c.10933G= (p.Val3645=)
| |
| 1 | g.215779849C>G | CA344832992 | USH2A | c.10933G>C (p.Val3645Leu)
| |
| 1 | g.215779849C>T | CA143241 | USH2A | c.10933G>A (p.Val3645Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779850C>A | CA423312882 | USH2A | c.10932G>T (p.Thr3644=)
| |
| 1 | g.215779850C= | CA1141715216 | USH2A | c.10932G= (p.Thr3644=)
| |
| 1 | g.215779850C>G | CA423312883 | USH2A | c.10932G>C (p.Thr3644=)
| ClinVar |
| 1 | g.215779850C>T | CA1393888 | USH2A | c.10932G>A (p.Thr3644=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215779851G>A | CA1393889 | USH2A | c.10931C>T (p.Thr3644Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215779851G>C | CA344833006 | USH2A | c.10931C>G (p.Thr3644Arg)
| COSMIC COSMIC |
| 1 | g.215779851G= | CA1142802152 | USH2A | c.10931C= (p.Thr3644=)
| |
| 1 | g.215779851G>T | CA1393890 | USH2A | c.10931C>A (p.Thr3644Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779852T>A | CA344833015 | USH2A | c.10930A>T (p.Thr3644Ser)
| dbSNP gnomAD v2 |
| 1 | g.215779852T>C | CA344833019 | USH2A | c.10930A>G (p.Thr3644Ala)
| |
| 1 | g.215779852T>G | CA344833024 | USH2A | c.10930A>C (p.Thr3644Pro)
| |
| 1 | g.215779852T= | CA1220414395 | USH2A | c.10930A= (p.Thr3644=)
| |
| 1 | g.215779853A>C | CA344833032 | USH2A | c.10929T>G (p.His3643Gln)
| |
| 1 | g.215779853A>G | CA423312886 | USH2A | c.10929T>C (p.His3643=)
| |
| 1 | g.215779853A>T | CA344833046 | USH2A | c.10929T>A (p.His3643Gln)
| |
| 1 | g.215779854del | CA2586968153 | USH2A | c.10928del (p.His3643LeufsTer?)
| |
| 1 | g.215779854T>A | CA344833050 | USH2A | c.10928A>T (p.His3643Leu)
| ClinVar |
| 1 | g.215779854T>C | CA1393891 | USH2A | c.10928A>G (p.His3643Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779854T>G | CA344833053 | USH2A | c.10928A>C (p.His3643Pro)
| |
| 1 | g.215779854T= | CA1220414412 | USH2A | c.10928A= (p.His3643=)
| |
| 1 | g.215779855G>A | CA344833067 | USH2A | c.10927C>T (p.His3643Tyr)
| dbSNP |
| 1 | g.215779855G>C | CA344833058 | USH2A | c.10927C>G (p.His3643Asp)
| |
| 1 | g.215779855G= | CA1220414416 | USH2A | c.10927C= (p.His3643=)
| |
| 1 | g.215779855G>T | CA344833063 | USH2A | c.10927C>A (p.His3643Asn)
| gnomAD v4 |
| 1 | g.215779856C>A | CA344833068 | USH2A | c.10926G>T (p.Gln3642His)
| |
| 1 | g.215779856C>G | CA344833069 | USH2A | c.10926G>C (p.Gln3642His)
| |
| 1 | g.215779856C>T | CA423312890 | USH2A | c.10926G>A (p.Gln3642=)
| gnomAD v4 |
| 1 | g.215779857T>A | CA344833074 | USH2A | c.10925A>T (p.Gln3642Leu)
| |
| 1 | g.215779857T>C | CA344833079 | USH2A | c.10925A>G (p.Gln3642Arg)
| |
| 1 | g.215779857T>G | CA344833084 | USH2A | c.10925A>C (p.Gln3642Pro)
| |
| 1 | g.215779858G>A | CA344833089 | USH2A | c.10924C>T (p.Gln3642Ter)
| ClinVar dbSNP gnomAD v2 COSMIC COSMIC |
| 1 | g.215779858G>C | CA1393892 | USH2A | c.10924C>G (p.Gln3642Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779858G= | CA1220414419 | USH2A | c.10924C= (p.Gln3642=)
| |
| 1 | g.215779858G>T | CA344833097 | USH2A | c.10924C>A (p.Gln3642Lys)
| ClinVar |
| 1 | g.215779859T>A | CA344833098 | USH2A | c.10923A>T (p.Arg3641Ser)
| |
| 1 | g.215779859T>C | CA423312893 | USH2A | c.10923A>G (p.Arg3641=)
| ClinVar |
| 1 | g.215779859T>G | CA344833099 | USH2A | c.10923A>C (p.Arg3641Ser)
| |
| 1 | g.215779860C>A | CA344833101 | USH2A | c.10922G>T (p.Arg3641Ile)
| |
| 1 | g.215779860C= | CA1144229150 | USH2A | c.10922G= (p.Arg3641=)
| |
| 1 | g.215779860C>G | CA344833103 | USH2A | c.10922G>C (p.Arg3641Thr)
| |
| 1 | g.215779860C>T | CA143239 | USH2A | c.10922G>A (p.Arg3641Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779861T>A | CA344833112 | USH2A | c.10921A>T (p.Arg3641Ter)
| |
| 1 | g.215779861T>C | CA344833109 | USH2A | c.10921A>G (p.Arg3641Gly)
| |
| 1 | g.215779861T>G | CA423312895 | USH2A | c.10921A>C (p.Arg3641=)
| |
| 1 | g.215779862C>A | CA344833116 | USH2A | c.10920G>T (p.Arg3640Ser)
| COSMIC COSMIC |
| 1 | g.215779862C>G | CA344833121 | USH2A | c.10920G>C (p.Arg3640Ser)
| |
| 1 | g.215779862C>T | CA423312896 | USH2A | c.10920G>A (p.Arg3640=)
| COSMIC COSMIC |
| 1 | g.215779863C>A | CA344833124 | USH2A | c.10919G>T (p.Arg3640Met)
| |
| 1 | g.215779863C= | CA1220414430 | USH2A | c.10919G= (p.Arg3640=)
| |
| 1 | g.215779863C>G | CA344833127 | USH2A | c.10919G>C (p.Arg3640Thr)
| |
| 1 | g.215779863C>T | CA344833135 | USH2A | c.10919G>A (p.Arg3640Lys)
| dbSNP gnomAD v4 |
| 1 | g.215779864T>A | CA1393893 | USH2A | c.10918A>T (p.Arg3640Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779864T>C | CA344833150 | USH2A | c.10918A>G (p.Arg3640Gly)
| dbSNP COSMIC COSMIC |
| 1 | g.215779864T>G | CA423312903 | USH2A | c.10918A>C (p.Arg3640=)
| |
| 1 | g.215779864T= | CA1220414435 | USH2A | c.10918A= (p.Arg3640=)
| |
| 1 | g.215779865G>A | CA423312905 | USH2A | c.10917C>T (p.Asp3639=)
| |
| 1 | g.215779865G>C | CA344833154 | USH2A | c.10917C>G (p.Asp3639Glu)
| |
| 1 | g.215779865G>T | CA344833155 | USH2A | c.10917C>A (p.Asp3639Glu)
| |
| 1 | g.215779866T>A | CA344833156 | USH2A | c.10916A>T (p.Asp3639Val)
| |
| 1 | g.215779866T>C | CA344833160 | USH2A | c.10916A>G (p.Asp3639Gly)
| |
| 1 | g.215779866T>G | CA344833163 | USH2A | c.10916A>C (p.Asp3639Ala)
| |
| 1 | g.215779867C>A | CA344833169 | USH2A | c.10915G>T (p.Asp3639Tyr)
| |
| 1 | g.215779867C= | CA1220414439 | USH2A | c.10915G= (p.Asp3639=)
| |
| 1 | g.215779867C>G | CA344833174 | USH2A | c.10915G>C (p.Asp3639His)
| |
| 1 | g.215779867C>T | CA1393894 | USH2A | c.10915G>A (p.Asp3639Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779868A= | CA1220414443 | USH2A | c.10914T= (p.Thr3638=)
| |
| 1 | g.215779868A>C | CA423312907 | USH2A | c.10914T>G (p.Thr3638=)
| |
| 1 | g.215779868A>G | CA423312908 | USH2A | c.10914T>C (p.Thr3638=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779868A>T | CA423312909 | USH2A | c.10914T>A (p.Thr3638=)
| |
| 1 | g.215779869G>A | CA344833190 | USH2A | c.10913C>T (p.Thr3638Ile)
| |
| 1 | g.215779869G>C | CA344833182 | USH2A | c.10913C>G (p.Thr3638Ser)
| |
| 1 | g.215779869G>T | CA344833187 | USH2A | c.10913C>A (p.Thr3638Asn)
| |
| 1 | g.215779870T>A | CA344833197 | USH2A | c.10912A>T (p.Thr3638Ser)
| |
| 1 | g.215779870T>C | CA344833199 | USH2A | c.10912A>G (p.Thr3638Ala)
| |
| 1 | g.215779870T>G | CA344833201 | USH2A | c.10912A>C (p.Thr3638Pro)
| |
| 1 | g.215779871G>A | CA423312913 | USH2A | c.10911C>T (p.Thr3637=)
| gnomAD v4 |
| 1 | g.215779871G>C | CA423312914 | USH2A | c.10911C>G (p.Thr3637=)
| |
| 1 | g.215779871G= | CA1220414446 | USH2A | c.10911C= (p.Thr3637=)
| |
| 1 | g.215779871G>T | CA423312912 | USH2A | c.10911C>A (p.Thr3637=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779872G>A | CA344833204 | USH2A | c.10910C>T (p.Thr3637Ile)
| gnomAD v4 |
| 1 | g.215779872G>C | CA344833207 | USH2A | c.10910C>G (p.Thr3637Ser)
| |
| 1 | g.215779872G>T | CA344833209 | USH2A | c.10910C>A (p.Thr3637Asn)
| |
| 1 | g.215779873T>A | CA344833215 | USH2A | c.10909A>T (p.Thr3637Ser)
| |
| 1 | g.215779873T>C | CA344833218 | USH2A | c.10909A>G (p.Thr3637Ala)
| |
| 1 | g.215779873T>G | CA344833219 | USH2A | c.10909A>C (p.Thr3637Pro)
| ClinVar |
| 1 | g.215779874G>A | CA423312921 | USH2A | c.10908C>T (p.Asp3636=)
| |
| 1 | g.215779874G>C | CA344833228 | USH2A | c.10908C>G (p.Asp3636Glu)
| |
| 1 | g.215779874G>T | CA344833231 | USH2A | c.10908C>A (p.Asp3636Glu)
| |
| 1 | g.215779875T>A | CA1393895 | USH2A | c.10907A>T (p.Asp3636Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779875T>C | CA344833257 | USH2A | c.10907A>G (p.Asp3636Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779875T>G | CA344833237 | USH2A | c.10907A>C (p.Asp3636Ala)
| |
| 1 | g.215779875T= | CA1220414448 | USH2A | c.10907A= (p.Asp3636=)
| |
| 1 | g.215779876C>A | CA344833263 | USH2A | c.10906G>T (p.Asp3636Tyr)
| gnomAD v4 |
| 1 | g.215779876C>G | CA344833275 | USH2A | c.10906G>C (p.Asp3636His)
| gnomAD v4 |
| 1 | g.215779876C>T | CA344833281 | USH2A | c.10906G>A (p.Asp3636Asn)
| |
| 1 | g.215779877A>C | CA423312927 | USH2A | c.10905T>G (p.Thr3635=)
| |
| 1 | g.215779877A>G | CA423312929 | USH2A | c.10905T>C (p.Thr3635=)
| |
| 1 | g.215779877A>T | CA423312928 | USH2A | c.10905T>A (p.Thr3635=)
| |
| 1 | g.215779878G>A | CA37435689 | USH2A | c.10904C>T (p.Thr3635Ile)
| dbSNP gnomAD v4 |
| 1 | g.215779878G>C | CA344833287 | USH2A | c.10904C>G (p.Thr3635Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779878G= | CA1148224982 | USH2A | c.10904C= (p.Thr3635=)
| |
| 1 | g.215779878G>T | CA185250 | USH2A | c.10904C>A (p.Thr3635Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779879T>A | CA344833302 | USH2A | c.10903A>T (p.Thr3635Ser)
| |
| 1 | g.215779879T>C | CA344833297 | USH2A | c.10903A>G (p.Thr3635Ala)
| |
| 1 | g.215779879T>G | CA1393896 | USH2A | c.10903A>C (p.Thr3635Pro)
| ClinVar dbSNP ExAC |
| 1 | g.215779879T= | CA1220414458 | USH2A | c.10903A= (p.Thr3635=)
| |
| 1 | g.215779879_215779880insC | CA2586968154 | USH2A | c.10902_10903insG (p.Thr3635AspfsTer2)
| |
| 1 | g.215779880G>A | CA423312932 | USH2A | c.10902C>T (p.His3634=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779880G>C | CA344833305 | USH2A | c.10902C>G (p.His3634Gln)
| |
| 1 | g.215779880G= | CA1220414461 | USH2A | c.10902C= (p.His3634=)
| |
| 1 | g.215779880G>T | CA344833307 | USH2A | c.10902C>A (p.His3634Gln)
| |
| 1 | g.215779881T>A | CA344833310 | USH2A | c.10901A>T (p.His3634Leu)
| |
| 1 | g.215779881T>C | CA344833312 | USH2A | c.10901A>G (p.His3634Arg)
| ClinVar dbSNP |
| 1 | g.215779881T>G | CA344833315 | USH2A | c.10901A>C (p.His3634Pro)
| |
| 1 | g.215779881T= | CA1220414464 | USH2A | c.10901A= (p.His3634=)
| |
| 1 | g.215779882G>A | CA344833319 | USH2A | c.10900C>T (p.His3634Tyr)
| |
| 1 | g.215779882G>C | CA344833326 | USH2A | c.10900C>G (p.His3634Asp)
| |
| 1 | g.215779882G>T | CA344833323 | USH2A | c.10900C>A (p.His3634Asn)
| |
| 1 | g.215779882_215779883insT | CA2564439479 | USH2A | c.10899_10900insA (p.His3634ThrfsTer3)
| |
| 1 | g.215779883G>A | CA423312933 | USH2A | c.10899C>T (p.Ile3633=)
| gnomAD v4 |
| 1 | g.215779883G>C | CA344833330 | USH2A | c.10899C>G (p.Ile3633Met)
| |
| 1 | g.215779883G>T | CA423312934 | USH2A | c.10899C>A (p.Ile3633=)
| |
| 1 | g.215779883_215779884insTTTGAT | CA2513813738 | USH2A | c.10898_10899insATCAAA (p.Ile3633_His3634insSerAsn)
| |
| 1 | g.215779884A= | CA1220414468 | USH2A | c.10898T= (p.Ile3633=)
| |
| 1 | g.215779884A>C | CA344833339 | USH2A | c.10898T>G (p.Ile3633Ser)
| |
| 1 | g.215779884A>G | CA344833341 | USH2A | c.10898T>C (p.Ile3633Thr)
| dbSNP gnomAD v2 |
| 1 | g.215779884A>T | CA344833344 | USH2A | c.10898T>A (p.Ile3633Asn)
| |
| 1 | g.215779885T>A | CA344833348 | USH2A | c.10897A>T (p.Ile3633Phe)
| |
| 1 | g.215779885T>C | CA344833352 | USH2A | c.10897A>G (p.Ile3633Val)
| gnomAD v4 |
| 1 | g.215779885T>G | CA344833358 | USH2A | c.10897A>C (p.Ile3633Leu)
| gnomAD v4 |
| 1 | g.215779886G>A | CA183666 | USH2A | c.10896C>T (p.Leu3632=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779886G>C | CA423312935 | USH2A | c.10896C>G (p.Leu3632=)
| |
| 1 | g.215779886G= | CA1143407795 | USH2A | c.10896C= (p.Leu3632=)
| |
| 1 | g.215779886G>T | CA423312936 | USH2A | c.10896C>A (p.Leu3632=)
| |
| 1 | g.215779887A= | CA1220414478 | USH2A | c.10895T= (p.Leu3632=)
| |
| 1 | g.215779887A>C | CA344833368 | USH2A | c.10895T>G (p.Leu3632Arg)
| |
| 1 | g.215779887A>G | CA344833370 | USH2A | c.10895T>C (p.Leu3632Pro)
| dbSNP |
| 1 | g.215779887A>T | CA344833373 | USH2A | c.10895T>A (p.Leu3632His)
| |
| 1 | g.215779887_215779888insTATAT | CA1220414481 | USH2A | c.10894_10895insATATA (p.Leu3632HisfsTer?)
| dbSNP |
| 1 | g.215779888G>A | CA344833382 | USH2A | c.10894C>T (p.Leu3632Phe)
| gnomAD v4 |
| 1 | g.215779888G>C | CA344833380 | USH2A | c.10894C>G (p.Leu3632Val)
| |
| 1 | g.215779888G= | CA1220414482 | USH2A | c.10894C= (p.Leu3632=)
| |
| 1 | g.215779888G>T | CA344833379 | USH2A | c.10894C>A (p.Leu3632Ile)
| |
| 1 | g.215779889A>C | CA423312937 | USH2A | c.10893T>G (p.Gly3631=)
| |
| 1 | g.215779889A>G | CA423312938 | USH2A | c.10893T>C (p.Gly3631=)
| |
| 1 | g.215779889A>T | CA423312939 | USH2A | c.10893T>A (p.Gly3631=)
| |
| 1 | g.215779889_215779890insGGTCA | CA1220414484 | USH2A | c.10893_10894insGACCT (p.Leu3632AspfsTer?)
| dbSNP |
| 1 | g.215779890C>A | CA37435691 | USH2A | c.10892G>T (p.Gly3631Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215779890C= | CA1220414487 | USH2A | c.10892G= (p.Gly3631=)
| |
| 1 | g.215779890C>G | CA344833392 | USH2A | c.10892G>C (p.Gly3631Ala)
| |
| 1 | g.215779890C>T | CA344833390 | USH2A | c.10892G>A (p.Gly3631Asp)
| |
| 1 | g.215779891C>A | CA344833397 | USH2A | c.10891G>T (p.Gly3631Cys)
| |
| 1 | g.215779891C= | CA1220414491 | USH2A | c.10891G= (p.Gly3631=)
| |
| 1 | g.215779891C>G | CA344833400 | USH2A | c.10891G>C (p.Gly3631Arg)
| |
| 1 | g.215779891C>T | CA344833405 | USH2A | c.10891G>A (p.Gly3631Ser)
| dbSNP |
| 1 | g.215779892T>A | CA344833408 | USH2A | c.10890A>T (p.Lys3630Asn)
| |
| 1 | g.215779892T>C | CA423312940 | USH2A | c.10890A>G (p.Lys3630=)
| ClinVar dbSNP |
| 1 | g.215779892T>G | CA344833412 | USH2A | c.10890A>C (p.Lys3630Asn)
| |
| 1 | g.215779892T= | CA1220414494 | USH2A | c.10890A= (p.Lys3630=)
| |
| 1 | g.215779894del | CA2586968156 | USH2A | c.10890del (p.Gly3631ValfsTer?)
| |
| 1 | g.215779893T>A | CA344833416 | USH2A | c.10889A>T (p.Lys3630Ile)
| |
| 1 | g.215779893T>C | CA344833419 | USH2A | c.10889A>G (p.Lys3630Arg)
| |
| 1 | g.215779893T>G | CA344833421 | USH2A | c.10889A>C (p.Lys3630Thr)
| gnomAD v4 |
| 1 | g.215779894T>A | CA344833428 | USH2A | c.10888A>T (p.Lys3630Ter)
| |
| 1 | g.215779894T>C | CA344833432 | USH2A | c.10888A>G (p.Lys3630Glu)
| gnomAD v4 |
| 1 | g.215779894T>G | CA344833435 | USH2A | c.10888A>C (p.Lys3630Gln)
| |
| 1 | g.215779895C>A | CA423312941 | USH2A | c.10887G>T (p.Gly3629=)
| gnomAD v4 |
| 1 | g.215779895C>G | CA423312943 | USH2A | c.10887G>C (p.Gly3629=)
| |
| 1 | g.215779895C>T | CA423312942 | USH2A | c.10887G>A (p.Gly3629=)
| |
| 1 | g.215779896C>A | CA344833445 | USH2A | c.10886G>T (p.Gly3629Val)
| |
| 1 | g.215779896C= | CA1143537215 | USH2A | c.10886G= (p.Gly3629=)
| |
| 1 | g.215779896C>G | CA344833442 | USH2A | c.10886G>C (p.Gly3629Ala)
| |
| 1 | g.215779896C>T | CA1393897 | USH2A | c.10886G>A (p.Gly3629Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215779897C>A | CA344833448 | USH2A | c.10885G>T (p.Gly3629Trp)
| |
| 1 | g.215779897C>G | CA344833452 | USH2A | c.10885G>C (p.Gly3629Arg)
| |
| 1 | g.215779897C>T | CA344833455 | USH2A | c.10885G>A (p.Gly3629Arg)
| |
| 1 | g.215779898A= | CA1220414497 | USH2A | c.10884T= (p.Val3628=)
| |
| 1 | g.215779898A>C | CA423312946 | USH2A | c.10884T>G (p.Val3628=)
| dbSNP |
| 1 | g.215779898A>G | CA423312945 | USH2A | c.10884T>C (p.Val3628=)
| |
| 1 | g.215779898A>T | CA423312944 | USH2A | c.10884T>A (p.Val3628=)
| |
| 1 | g.215779899A= | CA1220414499 | USH2A | c.10883T= (p.Val3628=)
| |
| 1 | g.215779899A>C | CA344833459 | USH2A | c.10883T>G (p.Val3628Gly)
| |
| 1 | g.215779899A>G | CA1393898 | USH2A | c.10883T>C (p.Val3628Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779899A>T | CA344833465 | USH2A | c.10883T>A (p.Val3628Asp)
| dbSNP |
