| 1 | g.215728092_215728199delinsAGACCACACGGTAATGGGAGATAATGCCATTGGGAGATTCTGGCTTTGTCCAATTCAACAGAACTGAATGAGCACTCGTGGCTTGAGCCCAAGGAGCTGGAAAATCTT | CA1220396495 | USH2A | c.11897_12004delinsAAGATTTTCCAGCTCCTTGGGCTCAAGCCACGAGTGCTCATTCAGTTCTGTTGAATTGGACAAAGCCAGAATCTCCCAATGGCATTATCTCCCATTACCGTGTGGTCT (p.Gln3966=)
| |
| 1 | g.215728095_215728201del | CA1139656579 | USH2A | c.11897_12003del (p.Gln3966LeufsTer11)
| ClinVar dbSNP |
| 1 | g.215728199T>A | CA344828667 | USH2A | c.11897A>T (p.Gln3966Leu)
| |
| 1 | g.215728199T>C | CA344828671 | USH2A | c.11897A>G (p.Gln3966Arg)
| |
| 1 | g.215728199T>G | CA344828680 | USH2A | c.11897A>C (p.Gln3966Pro)
| |
| 1 | g.215728200G>A | CA344828685 | USH2A | c.11896C>T (p.Gln3966Ter)
| |
| 1 | g.215728200G>C | CA344828688 | USH2A | c.11896C>G (p.Gln3966Glu)
| |
| 1 | g.215728200G>T | CA344828683 | USH2A | c.11896C>A (p.Gln3966Lys)
| |
| 1 | g.215728200_215728201delinsGA | CA1220396524 | USH2A | c.11895_11896delinsTC (p.Pro3965=)
| |
| 1 | g.215728201del | CA916082119 | USH2A | c.11895del (p.Gln3966LysfsTer18)
| ClinVar dbSNP |
| 1 | g.215728201A>C | CA423430041 | USH2A | c.11895T>G (p.Pro3965=)
| |
| 1 | g.215728201A>G | CA423430042 | USH2A | c.11895T>C (p.Pro3965=)
| |
| 1 | g.215728201A>T | CA423430043 | USH2A | c.11895T>A (p.Pro3965=)
| |
| 1 | g.215728202G>A | CA1393602 | USH2A | c.11894C>T (p.Pro3965Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728202G>C | CA344828689 | USH2A | c.11894C>G (p.Pro3965Arg)
| |
| 1 | g.215728202G= | CA1141832499 | USH2A | c.11894C= (p.Pro3965=)
| |
| 1 | g.215728202G>T | CA344828690 | USH2A | c.11894C>A (p.Pro3965His)
| |
| 1 | g.215728203G>A | CA1393603 | USH2A | c.11893C>T (p.Pro3965Ser)
| dbSNP ExAC gnomAD v4 |
| 1 | g.215728203G>C | CA344828697 | USH2A | c.11893C>G (p.Pro3965Ala)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215728203G= | CA1148435507 | USH2A | c.11893C= (p.Pro3965=)
| |
| 1 | g.215728203G>T | CA344828699 | USH2A | c.11893C>A (p.Pro3965Thr)
| |
| 1 | g.215728204T>A | CA423430044 | USH2A | c.11892A>T (p.Pro3964=)
| |
| 1 | g.215728204T>C | CA423430045 | USH2A | c.11892A>G (p.Pro3964=)
| gnomAD v4 |
| 1 | g.215728204T>G | CA423430046 | USH2A | c.11892A>C (p.Pro3964=)
| dbSNP |
| 1 | g.215728204T= | CA1220396525 | USH2A | c.11892A= (p.Pro3964=)
| |
| 1 | g.215728205G>A | CA344828713 | USH2A | c.11891C>T (p.Pro3964Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728205G>C | CA344828706 | USH2A | c.11891C>G (p.Pro3964Arg)
| |
| 1 | g.215728205G= | CA1220396526 | USH2A | c.11891C= (p.Pro3964=)
| |
| 1 | g.215728205G>T | CA344828704 | USH2A | c.11891C>A (p.Pro3964Gln)
| |
| 1 | g.215728206G>A | CA344828716 | USH2A | c.11890C>T (p.Pro3964Ser)
| |
| 1 | g.215728206G>C | CA344828718 | USH2A | c.11890C>G (p.Pro3964Ala)
| |
| 1 | g.215728206G>T | CA344828729 | USH2A | c.11890C>A (p.Pro3964Thr)
| |
| 1 | g.215728207A>C | CA423430049 | USH2A | c.11889T>G (p.Ala3963=)
| gnomAD v4 |
| 1 | g.215728207A>G | CA423430047 | USH2A | c.11889T>C (p.Ala3963=)
| |
| 1 | g.215728207A>T | CA423430048 | USH2A | c.11889T>A (p.Ala3963=)
| |
| 1 | g.215728208G>A | CA344828732 | USH2A | c.11888C>T (p.Ala3963Val)
| |
| 1 | g.215728208G>C | CA344828737 | USH2A | c.11888C>G (p.Ala3963Gly)
| |
| 1 | g.215728208G>T | CA344828740 | USH2A | c.11888C>A (p.Ala3963Asp)
| COSMIC |
| 1 | g.215728209C>A | CA344828745 | USH2A | c.11887G>T (p.Ala3963Ser)
| |
| 1 | g.215728209C= | CA1145326385 | USH2A | c.11887G= (p.Ala3963=)
| |
| 1 | g.215728209C>G | CA344828762 | USH2A | c.11887G>C (p.Ala3963Pro)
| |
| 1 | g.215728209C>T | CA1393604 | USH2A | c.11887G>A (p.Ala3963Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728210T>A | CA344828764 | USH2A | c.11886A>T (p.Glu3962Asp)
| |
| 1 | g.215728210T>C | CA423430050 | USH2A | c.11886A>G (p.Glu3962=)
| |
| 1 | g.215728210T>G | CA344828767 | USH2A | c.11886A>C (p.Glu3962Asp)
| |
| 1 | g.215728211T>A | CA344828776 | USH2A | c.11885A>T (p.Glu3962Val)
| |
| 1 | g.215728211T>C | CA344828781 | USH2A | c.11885A>G (p.Glu3962Gly)
| COSMIC COSMIC |
| 1 | g.215728211T>G | CA344828782 | USH2A | c.11885A>C (p.Glu3962Ala)
| |
| 1 | g.215728212C>A | CA344828791 | USH2A | c.11884G>T (p.Glu3962Ter)
| ClinVar dbSNP |
| 1 | g.215728212C= | CA1220396527 | USH2A | c.11884G= (p.Glu3962=)
| |
| 1 | g.215728212C>G | CA344828794 | USH2A | c.11884G>C (p.Glu3962Gln)
| |
| 1 | g.215728212C>T | CA344828796 | USH2A | c.11884G>A (p.Glu3962Lys)
| |
| 1 | g.215728213C>A | CA423430053 | USH2A | c.11883G>T (p.Leu3961=)
| |
| 1 | g.215728213C>G | CA423430051 | USH2A | c.11883G>C (p.Leu3961=)
| |
| 1 | g.215728213C>T | CA423430052 | USH2A | c.11883G>A (p.Leu3961=)
| |
| 1 | g.215728214A= | CA1220396528 | USH2A | c.11882T= (p.Leu3961=)
| |
| 1 | g.215728214A>C | CA1393605 | USH2A | c.11882T>G (p.Leu3961Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728214A>G | CA344828798 | USH2A | c.11882T>C (p.Leu3961Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728214A>T | CA344828801 | USH2A | c.11882T>A (p.Leu3961Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728216_215728217del | CA2697554901 | USH2A | c.11881_11882del (p.Leu3961GlyfsTer?)
| ClinVar |
| 1 | g.215728215G>A | CA423430054 | USH2A | c.11881C>T (p.Leu3961=)
| dbSNP |
| 1 | g.215728215G>C | CA344828805 | USH2A | c.11881C>G (p.Leu3961Val)
| |
| 1 | g.215728215G= | CA1220396529 | USH2A | c.11881C= (p.Leu3961=)
| |
| 1 | g.215728215G>T | CA1393606 | USH2A | c.11881C>A (p.Leu3961Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728216A>C | CA423430055 | USH2A | c.11880T>G (p.Thr3960=)
| |
| 1 | g.215728216A>G | CA423430056 | USH2A | c.11880T>C (p.Thr3960=)
| ClinVar |
| 1 | g.215728216A>T | CA423430057 | USH2A | c.11880T>A (p.Thr3960=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215728217G>A | CA344828817 | USH2A | c.11879C>T (p.Thr3960Ile)
| gnomAD v4 |
| 1 | g.215728217G>C | CA344828820 | USH2A | c.11879C>G (p.Thr3960Ser)
| |
| 1 | g.215728217G>T | CA344828823 | USH2A | c.11879C>A (p.Thr3960Asn)
| gnomAD v4 |
| 1 | g.215728218T>A | CA344828824 | USH2A | c.11878A>T (p.Thr3960Ser)
| |
| 1 | g.215728218T>C | CA344828825 | USH2A | c.11878A>G (p.Thr3960Ala)
| gnomAD v4 |
| 1 | g.215728218T>G | CA344828826 | USH2A | c.11878A>C (p.Thr3960Pro)
| dbSNP gnomAD v4 |
| 1 | g.215728218T= | CA1220396530 | USH2A | c.11878A= (p.Thr3960=)
| |
| 1 | g.215728219T>A | CA344828827 | USH2A | c.11877A>T (p.Gln3959His)
| gnomAD v4 |
| 1 | g.215728219T>C | CA423430058 | USH2A | c.11877A>G (p.Gln3959=)
| |
| 1 | g.215728219T>G | CA344828828 | USH2A | c.11877A>C (p.Gln3959His)
| |
| 1 | g.215728219_215728221delinsTTG | CA1220396531 | USH2A | c.11875_11877delinsCAA (p.Gln3959=)
| |
| 1 | g.215728220T>A | CA344828833 | USH2A | c.11876A>T (p.Gln3959Leu)
| |
| 1 | g.215728220T>C | CA344828835 | USH2A | c.11876A>G (p.Gln3959Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728220T>G | CA344828834 | USH2A | c.11876A>C (p.Gln3959Pro)
| |
| 1 | g.215728220T= | CA1220396532 | USH2A | c.11876A= (p.Gln3959=)
| |
| 1 | g.215728223_215728224del | CA275365 | USH2A | c.11875_11876del (p.Gln3959AsnfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728221del | CA2586968143 | USH2A | c.11875del (p.Gln3959LysfsTer25)
| |
| 1 | g.215728221G>A | CA344828836 | USH2A | c.11875C>T (p.Gln3959Ter)
| ClinVar dbSNP |
| 1 | g.215728221G>C | CA344828837 | USH2A | c.11875C>G (p.Gln3959Glu)
| |
| 1 | g.215728221G>T | CA344828838 | USH2A | c.11875C>A (p.Gln3959Lys)
| |
| 1 | g.215728222T>A | CA423430061 | USH2A | c.11874A>T (p.Thr3958=)
| |
| 1 | g.215728222T>C | CA423430060 | USH2A | c.11874A>G (p.Thr3958=)
| |
| 1 | g.215728222T>G | CA423430059 | USH2A | c.11874A>C (p.Thr3958=)
| |
| 1 | g.215728223G>A | CA344828839 | USH2A | c.11873C>T (p.Thr3958Ile)
| |
| 1 | g.215728223G>C | CA344828841 | USH2A | c.11873C>G (p.Thr3958Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728223G= | CA1220396533 | USH2A | c.11873C= (p.Thr3958=)
| |
| 1 | g.215728223G>T | CA344828840 | USH2A | c.11873C>A (p.Thr3958Lys)
| |
| 1 | g.215728224T>A | CA344828843 | USH2A | c.11872A>T (p.Thr3958Ser)
| |
| 1 | g.215728224T>C | CA344828846 | USH2A | c.11872A>G (p.Thr3958Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728224T>G | CA344828850 | USH2A | c.11872A>C (p.Thr3958Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728224T= | CA1220396534 | USH2A | c.11872A= (p.Thr3958=)
| |
| 1 | g.215728225T>A | CA344828853 | USH2A | c.11871A>T (p.Leu3957Phe)
| |
| 1 | g.215728225T>C | CA423430062 | USH2A | c.11871A>G (p.Leu3957=)
| |
| 1 | g.215728225T>G | CA344828854 | USH2A | c.11871A>C (p.Leu3957Phe)
| dbSNP |
| 1 | g.215728226A>C | CA344828855 | USH2A | c.11870T>G (p.Leu3957Ter)
| |
| 1 | g.215728226A>G | CA344828856 | USH2A | c.11870T>C (p.Leu3957Ser)
| |
| 1 | g.215728226A>T | CA344828857 | USH2A | c.11870T>A (p.Leu3957Ter)
| |
| 1 | g.215728227A= | CA1220396535 | USH2A | c.11869T= (p.Leu3957=)
| |
| 1 | g.215728227A>C | CA344828858 | USH2A | c.11869T>G (p.Leu3957Val)
| |
| 1 | g.215728227A>G | CA423430063 | USH2A | c.11869T>C (p.Leu3957=)
| dbSNP |
| 1 | g.215728227A>T | CA344828859 | USH2A | c.11869T>A (p.Leu3957Ile)
| |
| 1 | g.215728228T>A | CA423430064 | USH2A | c.11868A>T (p.Ser3956=)
| |
| 1 | g.215728228T>C | CA423430066 | USH2A | c.11868A>G (p.Ser3956=)
| |
| 1 | g.215728228T>G | CA423430065 | USH2A | c.11868A>C (p.Ser3956=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215728229G>A | CA344828861 | USH2A | c.11867C>T (p.Ser3956Leu)
| |
| 1 | g.215728229G>C | CA37395391 | USH2A | c.11867C>G (p.Ser3956Ter)
| ClinVar dbSNP |
| 1 | g.215728229G= | CA1220396536 | USH2A | c.11867C= (p.Ser3956=)
| |
| 1 | g.215728229G>T | CA344828865 | USH2A | c.11867C>A (p.Ser3956Ter)
| |
| 1 | g.215728230A>C | CA344828874 | USH2A | c.11866T>G (p.Ser3956Ala)
| |
| 1 | g.215728230A>G | CA344828876 | USH2A | c.11866T>C (p.Ser3956Pro)
| |
| 1 | g.215728230A>T | CA344828873 | USH2A | c.11866T>A (p.Ser3956Thr)
| |
| 1 | g.215728232_215728234dup | CA2739275628 | USH2A | c.11864_11866dup (p.Trp3955_Ser3956insTrp)
| ClinVar |
| 1 | g.215728231C>A | CA344828880 | USH2A | c.11865G>T (p.Trp3955Cys)
| |
| 1 | g.215728231C= | CA1220396537 | USH2A | c.11865G= (p.Trp3955=)
| |
| 1 | g.215728231C>G | CA344828878 | USH2A | c.11865G>C (p.Trp3955Cys)
| gnomAD v4 |
| 1 | g.215728231C>T | CA344828881 | USH2A | c.11865G>A (p.Trp3955Ter)
| dbSNP |
| 1 | g.215728232C>A | CA344828882 | USH2A | c.11864G>T (p.Trp3955Leu)
| |
| 1 | g.215728232C= | CA1141189289 | USH2A | c.11864G= (p.Trp3955=)
| |
| 1 | g.215728232C>G | CA344828883 | USH2A | c.11864G>C (p.Trp3955Ser)
| |
| 1 | g.215728232C>T | CA252235 | USH2A | c.11864G>A (p.Trp3955Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728233A= | CA1220396538 | USH2A | c.11863T= (p.Trp3955=)
| |
| 1 | g.215728233A>C | CA344828888 | USH2A | c.11863T>G (p.Trp3955Gly)
| |
| 1 | g.215728233A>G | CA344828890 | USH2A | c.11863T>C (p.Trp3955Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728233A>T | CA344828891 | USH2A | c.11863T>A (p.Trp3955Arg)
| |
| 1 | g.215728234C>A | CA423430067 | USH2A | c.11862G>T (p.Leu3954=)
| |
| 1 | g.215728234C= | CA1220396539 | USH2A | c.11862G= (p.Leu3954=)
| |
| 1 | g.215728234C>G | CA423430068 | USH2A | c.11862G>C (p.Leu3954=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728234C>T | CA423430069 | USH2A | c.11862G>A (p.Leu3954=)
| |
| 1 | g.215728235A>C | CA344828892 | USH2A | c.11861T>G (p.Leu3954Arg)
| |
| 1 | g.215728235A>G | CA344828893 | USH2A | c.11861T>C (p.Leu3954Pro)
| dbSNP |
| 1 | g.215728235A>T | CA344828894 | USH2A | c.11861T>A (p.Leu3954Gln)
| gnomAD v4 |
| 1 | g.215728236G>A | CA423430070 | USH2A | c.11860C>T (p.Leu3954=)
| gnomAD v4 |
| 1 | g.215728236G>C | CA344828895 | USH2A | c.11860C>G (p.Leu3954Val)
| |
| 1 | g.215728236G>T | CA344828896 | USH2A | c.11860C>A (p.Leu3954Met)
| |
| 1 | g.215728238_215728248del | CA2695199986 | USH2A | c.11850_11860del (p.Glu3952ValfsTer?)
| ClinVar |
| 1 | g.215728237A= | CA1141836284 | USH2A | c.11859T= (p.Ser3953=)
| |
| 1 | g.215728237A>C | CA344828908 | USH2A | c.11859T>G (p.Ser3953Arg)
| |
| 1 | g.215728237A>G | CA1393607 | USH2A | c.11859T>C (p.Ser3953=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728237A>T | CA344828905 | USH2A | c.11859T>A (p.Ser3953Arg)
| |
| 1 | g.215728238C>A | CA344828911 | USH2A | c.11858G>T (p.Ser3953Ile)
| |
| 1 | g.215728238C>G | CA344828913 | USH2A | c.11858G>C (p.Ser3953Thr)
| |
| 1 | g.215728238C>T | CA344828915 | USH2A | c.11858G>A (p.Ser3953Asn)
| |
| 1 | g.215728239T>A | CA344828918 | USH2A | c.11857A>T (p.Ser3953Cys)
| |
| 1 | g.215728239T>C | CA344828921 | USH2A | c.11857A>G (p.Ser3953Gly)
| COSMIC COSMIC |
| 1 | g.215728239T>G | CA344828922 | USH2A | c.11857A>C (p.Ser3953Arg)
| |
| 1 | g.215728240C>A | CA344828923 | USH2A | c.11856G>T (p.Glu3952Asp)
| ClinVar gnomAD v4 |
| 1 | g.215728240C= | CA1220396540 | USH2A | c.11856G= (p.Glu3952=)
| |
| 1 | g.215728240C>G | CA1393608 | USH2A | c.11856G>C (p.Glu3952Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728240C>T | CA423430071 | USH2A | c.11856G>A (p.Glu3952=)
| |
| 1 | g.215728241T>A | CA344828927 | USH2A | c.11855A>T (p.Glu3952Val)
| |
| 1 | g.215728241T>C | CA344828929 | USH2A | c.11855A>G (p.Glu3952Gly)
| |
| 1 | g.215728241T>G | CA344828931 | USH2A | c.11855A>C (p.Glu3952Ala)
| |
| 1 | g.215728242C>A | CA344828935 | USH2A | c.11854G>T (p.Glu3952Ter)
| |
| 1 | g.215728242C>G | CA344828936 | USH2A | c.11854G>C (p.Glu3952Gln)
| |
| 1 | g.215728242C>T | CA344828934 | USH2A | c.11854G>A (p.Glu3952Lys)
| |
| 1 | g.215728243C>A | CA423430072 | USH2A | c.11853G>T (p.Val3951=)
| |
| 1 | g.215728243C>G | CA423430073 | USH2A | c.11853G>C (p.Val3951=)
| |
| 1 | g.215728243C>T | CA423430074 | USH2A | c.11853G>A (p.Val3951=)
| |
| 1 | g.215728244A>C | CA344828937 | USH2A | c.11852T>G (p.Val3951Gly)
| |
| 1 | g.215728244A>G | CA344828938 | USH2A | c.11852T>C (p.Val3951Ala)
| |
| 1 | g.215728244A>T | CA344828939 | USH2A | c.11852T>A (p.Val3951Glu)
| |
| 1 | g.215728245C>A | CA344828941 | USH2A | c.11851G>T (p.Val3951Leu)
| gnomAD v4 |
| 1 | g.215728245C= | CA1220396541 | USH2A | c.11851G= (p.Val3951=)
| |
| 1 | g.215728245C>G | CA344828949 | USH2A | c.11851G>C (p.Val3951Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728245C>T | CA37395395 | USH2A | c.11851G>A (p.Val3951Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728249_215728271del | CA2573131554 | USH2A | c.11829_11851del (p.Arg3943SerfsTer?)
| ClinVar dbSNP |
| 1 | g.215728246T>A | CA423430075 | USH2A | c.11850A>T (p.Ser3950=)
| |
| 1 | g.215728246T>C | CA423430076 | USH2A | c.11850A>G (p.Ser3950=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215728246T>G | CA423430077 | USH2A | c.11850A>C (p.Ser3950=)
| |
| 1 | g.215728247G>A | CA344828953 | USH2A | c.11849C>T (p.Ser3950Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728247G>C | CA344828954 | USH2A | c.11849C>G (p.Ser3950Ter)
| |
| 1 | g.215728247G= | CA1220396542 | USH2A | c.11849C= (p.Ser3950=)
| |
| 1 | g.215728247G>T | CA344828957 | USH2A | c.11849C>A (p.Ser3950Ter)
| |
| 1 | g.215728248A>C | CA344828961 | USH2A | c.11848T>G (p.Ser3950Ala)
| |
| 1 | g.215728248A>G | CA344828964 | USH2A | c.11848T>C (p.Ser3950Pro)
| |
| 1 | g.215728248A>T | CA344828965 | USH2A | c.11848T>A (p.Ser3950Thr)
| |
| 1 | g.215728249A>C | CA423430080 | USH2A | c.11847T>G (p.Gly3949=)
| |
| 1 | g.215728249A>G | CA423430078 | USH2A | c.11847T>C (p.Gly3949=)
| |
| 1 | g.215728249A>T | CA423430079 | USH2A | c.11847T>A (p.Gly3949=)
| |
| 1 | g.215728250C>A | CA344828968 | USH2A | c.11846G>T (p.Gly3949Val)
| ClinVar |
| 1 | g.215728250C= | CA1220396543 | USH2A | c.11846G= (p.Gly3949=)
| |
| 1 | g.215728250C>G | CA344828970 | USH2A | c.11846G>C (p.Gly3949Ala)
| |
| 1 | g.215728250C>T | CA344828967 | USH2A | c.11846G>A (p.Gly3949Asp)
| dbSNP gnomAD v4 |
| 1 | g.215728251C>A | CA344828975 | USH2A | c.11845G>T (p.Gly3949Cys)
| |
| 1 | g.215728251C>G | CA344828978 | USH2A | c.11845G>C (p.Gly3949Arg)
| gnomAD v4 |
| 1 | g.215728251C>T | CA344828983 | USH2A | c.11845G>A (p.Gly3949Ser)
| |
| 1 | g.215728252C>A | CA344828986 | USH2A | c.11844G>T (p.Lys3948Asn)
| |
| 1 | g.215728252C>G | CA344828988 | USH2A | c.11844G>C (p.Lys3948Asn)
| |
| 1 | g.215728252C>T | CA423430081 | USH2A | c.11844G>A (p.Lys3948=)
| |
| 1 | g.215728253_215728368dup | CA2650501610 | USH2A | c.11729_11844dup (p.Gly3949LysfsTer23)
| gnomAD v4 |
| 1 | g.215728253T>A | CA344828992 | USH2A | c.11843A>T (p.Lys3948Met)
| |
| 1 | g.215728253T>C | CA344828990 | USH2A | c.11843A>G (p.Lys3948Arg)
| dbSNP gnomAD v4 |
| 1 | g.215728253T>G | CA344828991 | USH2A | c.11843A>C (p.Lys3948Thr)
| |
| 1 | g.215728253T= | CA1220396544 | USH2A | c.11843A= (p.Lys3948=)
| |
| 1 | g.215728254T>A | CA344828993 | USH2A | c.11842A>T (p.Lys3948Ter)
| |
| 1 | g.215728254T>C | CA344828994 | USH2A | c.11842A>G (p.Lys3948Glu)
| ClinVar dbSNP |
| 1 | g.215728254T>G | CA344828995 | USH2A | c.11842A>C (p.Lys3948Gln)
| |
| 1 | g.215728254T= | CA1220396545 | USH2A | c.11842A= (p.Lys3948=)
| |
| 1 | g.215728255G>A | CA423430083 | USH2A | c.11841C>T (p.Ser3947=)
| ClinVar |
| 1 | g.215728255G>C | CA423430082 | USH2A | c.11841C>G (p.Ser3947=)
| |
| 1 | g.215728255G>T | CA423430084 | USH2A | c.11841C>A (p.Ser3947=)
| |
| 1 | g.215728256dup | CA2586968146 | USH2A | c.11841dup (p.Lys3948GlnfsTer?)
| |
| 1 | g.215728256G>A | CA1393609 | USH2A | c.11840C>T (p.Ser3947Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728256G>C | CA344828997 | USH2A | c.11840C>G (p.Ser3947Cys)
| gnomAD v4 |
| 1 | g.215728256G= | CA1220396546 | USH2A | c.11840C= (p.Ser3947=)
| |
| 1 | g.215728256G>T | CA344828999 | USH2A | c.11840C>A (p.Ser3947Tyr)
| |
| 1 | g.215728257A>C | CA344829008 | USH2A | c.11839T>G (p.Ser3947Ala)
| |
| 1 | g.215728257A>G | CA344829006 | USH2A | c.11839T>C (p.Ser3947Pro)
| |
| 1 | g.215728257A>T | CA344829001 | USH2A | c.11839T>A (p.Ser3947Thr)
| |
| 1 | g.215728258G>A | CA423430085 | USH2A | c.11838C>T (p.Asn3946=)
| |
| 1 | g.215728258G>C | CA344829018 | USH2A | c.11838C>G (p.Asn3946Lys)
| |
| 1 | g.215728258G>T | CA344829014 | USH2A | c.11838C>A (p.Asn3946Lys)
| |
| 1 | g.215728259T>A | CA344829025 | USH2A | c.11837A>T (p.Asn3946Ile)
| |
| 1 | g.215728259T>C | CA344829019 | USH2A | c.11837A>G (p.Asn3946Ser)
| |
| 1 | g.215728259T>G | CA344829023 | USH2A | c.11837A>C (p.Asn3946Thr)
| |
| 1 | g.215728260T>A | CA344829026 | USH2A | c.11836A>T (p.Asn3946Tyr)
| |
| 1 | g.215728260T>C | CA344829027 | USH2A | c.11836A>G (p.Asn3946Asp)
| |
| 1 | g.215728260T>G | CA344829028 | USH2A | c.11836A>C (p.Asn3946His)
| |
| 1 | g.215728260T= | CA1220396547 | USH2A | c.11836A= (p.Asn3946=)
| |
| 1 | g.215728260_215728261insCTG | CA1393610 | USH2A | c.11835_11836insCAG (p.Cys3945_Asn3946insGln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728260_215728261insCTGA | CA1220396549 | USH2A | c.11835_11836insTCAG (p.Asn3946SerfsTer?)
| dbSNP |
| 1 | g.215728261A= | CA1220396548 | USH2A | c.11835T= (p.Cys3945=)
| |
| 1 | g.215728261A>C | CA344829030 | USH2A | c.11835T>G (p.Cys3945Trp)
| dbSNP |
| 1 | g.215728261A>G | CA423430086 | USH2A | c.11835T>C (p.Cys3945=)
| |
| 1 | g.215728261A>T | CA344829043 | USH2A | c.11835T>A (p.Cys3945Ter)
| |
| 1 | g.215728261_215728263delinsCTGACCC | CA2695199987 | USH2A | c.11833_11835delinsGGGTCAG (p.Cys3945GlyfsTer?)
| ClinVar |
| 1 | g.215728262C>A | CA344829054 | USH2A | c.11834G>T (p.Cys3945Phe)
| |
| 1 | g.215728262C>G | CA344829055 | USH2A | c.11834G>C (p.Cys3945Ser)
| |
| 1 | g.215728262C>T | CA344829058 | USH2A | c.11834G>A (p.Cys3945Tyr)
| ClinVar |
| 1 | g.215728262dup | CA1393611 | USH2A | c.11834dup (p.Cys3945TrpfsTer2)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728263A= | CA1220396550 | USH2A | c.11833T= (p.Cys3945=)
| |
| 1 | g.215728263A>C | CA1393612 | USH2A | c.11833T>G (p.Cys3945Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728263A>G | CA344829060 | USH2A | c.11833T>C (p.Cys3945Arg)
| |
| 1 | g.215728263A>T | CA344829059 | USH2A | c.11833T>A (p.Cys3945Ser)
| |
| 1 | g.215728264G>A | CA423430087 | USH2A | c.11832C>T (p.Ala3944=)
| ClinVar dbSNP |
| 1 | g.215728264G>C | CA423430088 | USH2A | c.11832C>G (p.Ala3944=)
| |
| 1 | g.215728264G>T | CA423430089 | USH2A | c.11832C>A (p.Ala3944=)
| |
| 1 | g.215728265G>A | CA344829061 | USH2A | c.11831C>T (p.Ala3944Val)
| gnomAD v4 |
| 1 | g.215728265G>C | CA344829063 | USH2A | c.11831C>G (p.Ala3944Gly)
| |
| 1 | g.215728265G= | CA1220396551 | USH2A | c.11831C= (p.Ala3944=)
| |
| 1 | g.215728265G>T | CA344829065 | USH2A | c.11831C>A (p.Ala3944Asp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728266C>A | CA344829067 | USH2A | c.11830G>T (p.Ala3944Ser)
| |
| 1 | g.215728266C>G | CA344829069 | USH2A | c.11830G>C (p.Ala3944Pro)
| gnomAD v4 |
| 1 | g.215728266C>T | CA344829071 | USH2A | c.11830G>A (p.Ala3944Thr)
| |
| 1 | g.215728267T>A | CA344829074 | USH2A | c.11829A>T (p.Arg3943Ser)
| |
| 1 | g.215728267T>C | CA423430090 | USH2A | c.11829A>G (p.Arg3943=)
| |
| 1 | g.215728267T>G | CA344829076 | USH2A | c.11829A>C (p.Arg3943Ser)
| |
| 1 | g.215728268C>A | CA344829080 | USH2A | c.11828G>T (p.Arg3943Ile)
| |
| 1 | g.215728268C= | CA1220396552 | USH2A | c.11828G= (p.Arg3943=)
| |
| 1 | g.215728268C>G | CA344829082 | USH2A | c.11828G>C (p.Arg3943Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728268C>T | CA344829086 | USH2A | c.11828G>A (p.Arg3943Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728269T>A | CA344829087 | USH2A | c.11827A>T (p.Arg3943Ter)
| |
| 1 | g.215728269T>C | CA344829088 | USH2A | c.11827A>G (p.Arg3943Gly)
| |
| 1 | g.215728269T>G | CA423430091 | USH2A | c.11827A>C (p.Arg3943=)
| |
| 1 | g.215728270G>A | CA423430093 | USH2A | c.11826C>T (p.Val3942=)
| |
| 1 | g.215728270G>C | CA423430092 | USH2A | c.11826C>G (p.Val3942=)
| |
| 1 | g.215728270G= | CA1143999664 | USH2A | c.11826C= (p.Val3942=)
| |
| 1 | g.215728270G>T | CA1393613 | USH2A | c.11826C>A (p.Val3942=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728271A= | CA1220396553 | USH2A | c.11825T= (p.Val3942=)
| |
| 1 | g.215728271A>C | CA344829094 | USH2A | c.11825T>G (p.Val3942Gly)
| |
| 1 | g.215728271A>G | CA344829089 | USH2A | c.11825T>C (p.Val3942Ala)
| |
| 1 | g.215728271A>T | CA344829091 | USH2A | c.11825T>A (p.Val3942Asp)
| |
| 1 | g.215728272C>A | CA344829099 | USH2A | c.11824G>T (p.Val3942Phe)
| |
| 1 | g.215728272C= | CA1220396554 | USH2A | c.11824G= (p.Val3942=)
| |
| 1 | g.215728272C>G | CA344829101 | USH2A | c.11824G>C (p.Val3942Leu)
| dbSNP gnomAD v4 |
| 1 | g.215728272C>T | CA344829106 | USH2A | c.11824G>A (p.Val3942Ile)
| ClinVar dbSNP |
| 1 | g.215728274dup | CA916082120 | USH2A | c.11824dup (p.Val3942GlyfsTer5)
| ClinVar dbSNP |
| 1 | g.215728274del | CA2580062171 | USH2A | c.11824del (p.Val3942SerfsTer16)
| ClinVar |
| 1 | g.215728273C>A | CA423430094 | USH2A | c.11823G>T (p.Arg3941=)
| |
| 1 | g.215728273C= | CA1220396555 | USH2A | c.11823G= (p.Arg3941=)
| |
| 1 | g.215728273C>G | CA423430095 | USH2A | c.11823G>C (p.Arg3941=)
| |
| 1 | g.215728273C>T | CA423430096 | USH2A | c.11823G>A (p.Arg3941=)
| |
| 1 | g.215728274C>A | CA344829109 | USH2A | c.11822G>T (p.Arg3941Leu)
| dbSNP |
| 1 | g.215728274C= | CA1148224968 | USH2A | c.11822G= (p.Arg3941=)
| |
| 1 | g.215728274C>G | CA344829113 | USH2A | c.11822G>C (p.Arg3941Pro)
| |
| 1 | g.215728274C>T | CA183417 | USH2A | c.11822G>A (p.Arg3941Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728276_215728282dup | CA1139656580 | USH2A | c.11816_11822dup (p.Val3942IlefsTer7)
| ClinVar dbSNP |
| 1 | g.215728275G>A | CA1393614 | USH2A | c.11821C>T (p.Arg3941Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.215728275G>C | CA344829133 | USH2A | c.11821C>G (p.Arg3941Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728275G= | CA1149155713 | USH2A | c.11821C= (p.Arg3941=)
| |
| 1 | g.215728275G>T | CA37395450 | USH2A | c.11821C>A (p.Arg3941=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215728276A>C | CA344829138 | USH2A | c.11820T>G (p.Tyr3940Ter)
| |
| 1 | g.215728276A>G | CA423430097 | USH2A | c.11820T>C (p.Tyr3940=)
| |
| 1 | g.215728276A>T | CA344829141 | USH2A | c.11820T>A (p.Tyr3940Ter)
| |
| 1 | g.215728277T>A | CA344829151 | USH2A | c.11819A>T (p.Tyr3940Phe)
| gnomAD v4 |
| 1 | g.215728277T>C | CA344829154 | USH2A | c.11819A>G (p.Tyr3940Cys)
| |
| 1 | g.215728277T>G | CA344829145 | USH2A | c.11819A>C (p.Tyr3940Ser)
| |
| 1 | g.215728278A>C | CA344829160 | USH2A | c.11818T>G (p.Tyr3940Asp)
| |
| 1 | g.215728278A>G | CA344829166 | USH2A | c.11818T>C (p.Tyr3940His)
| COSMIC |
| 1 | g.215728278A>T | CA344829171 | USH2A | c.11818T>A (p.Tyr3940Asn)
| |
| 1 | g.215728279T>A | CA344829173 | USH2A | c.11817A>T (p.Glu3939Asp)
| |
| 1 | g.215728279T>C | CA423430098 | USH2A | c.11817A>G (p.Glu3939=)
| gnomAD v4 |
| 1 | g.215728279T>G | CA344829176 | USH2A | c.11817A>C (p.Glu3939Asp)
| |
| 1 | g.215728280dup | CA913072762 | USH2A | c.11817dup (p.Tyr3940IlefsTer7)
| |
| 1 | g.215728279_215728281dup | CA2499214463 | USH2A | c.11815_11817dup (p.Glu3939_Tyr3940insGlu)
| ClinVar dbSNP |
| 1 | g.215728280T>A | CA344829191 | USH2A | c.11816A>T (p.Glu3939Val)
| |
| 1 | g.215728280T>C | CA344829186 | USH2A | c.11816A>G (p.Glu3939Gly)
| gnomAD v4 |
| 1 | g.215728280T>G | CA344829190 | USH2A | c.11816A>C (p.Glu3939Ala)
| |
| 1 | g.215728280T= | CA1220396556 | USH2A | c.11816A= (p.Glu3939=)
| |
| 1 | g.215728280_215728281dup | CA2499214464 | USH2A | c.11815_11816dup (p.Tyr3940AsnfsTer19)
| ClinVar dbSNP |
| 1 | g.215728281C>A | CA344829192 | USH2A | c.11815G>T (p.Glu3939Ter)
| gnomAD v4 |
| 1 | g.215728281C= | CA1142105223 | USH2A | c.11815G= (p.Glu3939=)
| |
| 1 | g.215728281C>G | CA344829193 | USH2A | c.11815G>C (p.Glu3939Gln)
| |
| 1 | g.215728281C>T | CA182588 | USH2A | c.11815G>A (p.Glu3939Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728281dup | CA658821850 | USH2A | c.11815dup (p.Glu3939GlyfsTer8)
| ClinVar dbSNP |
| 1 | g.215728282G>A | CA1393615 | USH2A | c.11814C>T (p.Tyr3938=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728282G>C | CA344829197 | USH2A | c.11814C>G (p.Tyr3938Ter)
| |
| 1 | g.215728282G= | CA1220396557 | USH2A | c.11814C= (p.Tyr3938=)
| |
| 1 | g.215728282G>T | CA344829205 | USH2A | c.11814C>A (p.Tyr3938Ter)
| |
| 1 | g.215728283T>A | CA344829213 | USH2A | c.11813A>T (p.Tyr3938Phe)
| |
| 1 | g.215728283T>C | CA344829216 | USH2A | c.11813A>G (p.Tyr3938Cys)
| ClinVar |
| 1 | g.215728283T>G | CA344829210 | USH2A | c.11813A>C (p.Tyr3938Ser)
| |
| 1 | g.215728283_215728285delinsTAG | CA1220396558 | USH2A | c.11811_11813delinsCTA (p.Leu3937=)
| |
| 1 | g.215728284A= | CA1220396559 | USH2A | c.11812T= (p.Tyr3938=)
| |
| 1 | g.215728284A>C | CA344829230 | USH2A | c.11812T>G (p.Tyr3938Asp)
| |
| 1 | g.215728284A>G | CA1393616 | USH2A | c.11812T>C (p.Tyr3938His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728284A>T | CA344829233 | USH2A | c.11812T>A (p.Tyr3938Asn)
| |
| 1 | g.215728286_215728287del | CA731342103 | USH2A | c.11811_11812del (p.Tyr3938ArgfsTer8)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215728285G>A | CA423430099 | USH2A | c.11811C>T (p.Leu3937=)
| |
| 1 | g.215728285G>C | CA423430100 | USH2A | c.11811C>G (p.Leu3937=)
| |
| 1 | g.215728285G>T | CA423430101 | USH2A | c.11811C>A (p.Leu3937=)
| |
| 1 | g.215728286A>C | CA344829244 | USH2A | c.11810T>G (p.Leu3937Arg)
| |
| 1 | g.215728286A>G | CA344829247 | USH2A | c.11810T>C (p.Leu3937Pro)
| |
| 1 | g.215728286A>T | CA344829251 | USH2A | c.11810T>A (p.Leu3937His)
| |
| 1 | g.215728287G>A | CA344829253 | USH2A | c.11809C>T (p.Leu3937Phe)
| gnomAD v4 |
| 1 | g.215728287G>C | CA344829256 | USH2A | c.11809C>G (p.Leu3937Val)
| |
| 1 | g.215728287G>T | CA344829260 | USH2A | c.11809C>A (p.Leu3937Ile)
| |
| 1 | g.215728288T>A | CA423430102 | USH2A | c.11808A>T (p.Thr3936=)
| |
| 1 | g.215728288T>C | CA423430103 | USH2A | c.11808A>G (p.Thr3936=)
| |
| 1 | g.215728288T>G | CA423430104 | USH2A | c.11808A>C (p.Thr3936=)
| |
| 1 | g.215728289G>A | CA1393617 | USH2A | c.11807C>T (p.Thr3936Ile)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215728289G>C | CA344829265 | USH2A | c.11807C>G (p.Thr3936Arg)
| |
| 1 | g.215728289G= | CA1220396560 | USH2A | c.11807C= (p.Thr3936=)
| |
| 1 | g.215728289G>T | CA344829275 | USH2A | c.11807C>A (p.Thr3936Lys)
| |
| 1 | g.215728290T>A | CA344829282 | USH2A | c.11806A>T (p.Thr3936Ser)
| |
| 1 | g.215728290T>C | CA344829286 | USH2A | c.11806A>G (p.Thr3936Ala)
| |
| 1 | g.215728290T>G | CA344829290 | USH2A | c.11806A>C (p.Thr3936Pro)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215728291G>A | CA423430105 | USH2A | c.11805C>T (p.Phe3935=)
| |
| 1 | g.215728291G>C | CA344829301 | USH2A | c.11805C>G (p.Phe3935Leu)
| |
| 1 | g.215728291G= | CA1220396561 | USH2A | c.11805C= (p.Phe3935=)
| |
| 1 | g.215728291G>T | CA1393618 | USH2A | c.11805C>A (p.Phe3935Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728292A>C | CA344829309 | USH2A | c.11804T>G (p.Phe3935Cys)
| |
| 1 | g.215728292A>G | CA344829314 | USH2A | c.11804T>C (p.Phe3935Ser)
| |
| 1 | g.215728292A>T | CA344829312 | USH2A | c.11804T>A (p.Phe3935Tyr)
| |
| 1 | g.215728293A= | CA1220396562 | USH2A | c.11803T= (p.Phe3935=)
| |
| 1 | g.215728293A>C | CA344829317 | USH2A | c.11803T>G (p.Phe3935Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728293A>G | CA344829323 | USH2A | c.11803T>C (p.Phe3935Leu)
| |
| 1 | g.215728293A>T | CA344829330 | USH2A | c.11803T>A (p.Phe3935Ile)
| |
| 1 | g.215728294A>C | CA423430106 | USH2A | c.11802T>G (p.Pro3934=)
| |
| 1 | g.215728294A>G | CA423430107 | USH2A | c.11802T>C (p.Pro3934=)
| |
| 1 | g.215728294A>T | CA423430108 | USH2A | c.11802T>A (p.Pro3934=)
| |
| 1 | g.215728295G>A | CA344829332 | USH2A | c.11801C>T (p.Pro3934Leu)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215728295G>C | CA344829334 | USH2A | c.11801C>G (p.Pro3934Arg)
| |
| 1 | g.215728295G>T | CA344829337 | USH2A | c.11801C>A (p.Pro3934His)
| |
| 1 | g.215728296G>A | CA344829338 | USH2A | c.11800C>T (p.Pro3934Ser)
| COSMIC |
| 1 | g.215728296G>C | CA344829339 | USH2A | c.11800C>G (p.Pro3934Ala)
| |
| 1 | g.215728296G>T | CA344829340 | USH2A | c.11800C>A (p.Pro3934Thr)
| |
| 1 | g.215728297C>A | CA344829341 | USH2A | c.11799G>T (p.Arg3933Ser)
| |
| 1 | g.215728297C>G | CA344829342 | USH2A | c.11799G>C (p.Arg3933Ser)
| |
| 1 | g.215728297C>T | CA423430109 | USH2A | c.11799G>A (p.Arg3933=)
| |
| 1 | g.215728300_215728312del | CA2695199988 | USH2A | c.11787_11799del (p.Asp3930LeufsTer24)
| ClinVar |
| 1 | g.215728298C>A | CA344829343 | USH2A | c.11798G>T (p.Arg3933Met)
| |
| 1 | g.215728298C= | CA1220396563 | USH2A | c.11798G= (p.Arg3933=)
| |
| 1 | g.215728298C>G | CA344829354 | USH2A | c.11798G>C (p.Arg3933Thr)
| |
| 1 | g.215728298C>T | CA344829346 | USH2A | c.11798G>A (p.Arg3933Lys)
| dbSNP |
| 1 | g.215728299T>A | CA344829355 | USH2A | c.11797A>T (p.Arg3933Trp)
| |
| 1 | g.215728299T>C | CA344829363 | USH2A | c.11797A>G (p.Arg3933Gly)
| |
| 1 | g.215728299T>G | CA423430110 | USH2A | c.11797A>C (p.Arg3933=)
| |
