1 | g.215640720_215640724del | CA2695199970 | USH2A | c.14804_14808del (p.Arg4935ProfsTer17)
| ClinVar |
1 | g.215640719_215640726delinsGCTCGGTA | CA1220359738 | USH2A | c.14800_14807delinsTACCGAGC (p.Tyr4934=)
| |
1 | g.215640720_215640728delinsCTCGGTACT | CA1149063982 | USH2A | c.14798_14806delinsAGTACCGAG (p.Gln4933=)
| |
1 | g.215640722_215640728del | CA1392910 | USH2A | c.14800_14806del (p.Tyr4934ProfsTer14)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215640723G>A | CA273457 | USH2A | c.14803C>T (p.Arg4935Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.215640723G>C | CA344828583 | USH2A | c.14803C>G (p.Arg4935Gly)
| gnomAD v4 |
1 | g.215640723G= | CA1142134043 | USH2A | c.14803C= (p.Arg4935=)
| |
1 | g.215640723G>T | CA423306924 | USH2A | c.14803C>A (p.Arg4935=)
| ClinVar dbSNP |
1 | g.215640724G>A | CA423306925 | USH2A | c.14802C>T (p.Tyr4934=)
| |
1 | g.215640724G>C | CA344828586 | USH2A | c.14802C>G (p.Tyr4934Ter)
| ClinVar |
1 | g.215640724G>T | CA344828588 | USH2A | c.14802C>A (p.Tyr4934Ter)
| ClinVar |
1 | g.215640725T>A | CA344828594 | USH2A | c.14801A>T (p.Tyr4934Phe)
| |
1 | g.215640725T>C | CA344828598 | USH2A | c.14801A>G (p.Tyr4934Cys)
| COSMIC COSMIC |
1 | g.215640725T>G | CA344828595 | USH2A | c.14801A>C (p.Tyr4934Ser)
| |
1 | g.215640726A>C | CA344828606 | USH2A | c.14800T>G (p.Tyr4934Asp)
| |
1 | g.215640726A>G | CA344828610 | USH2A | c.14800T>C (p.Tyr4934His)
| |
1 | g.215640726A>T | CA344828614 | USH2A | c.14800T>A (p.Tyr4934Asn)
| |
1 | g.215640727C>A | CA344828618 | USH2A | c.14799G>T (p.Gln4933His)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215640727C= | CA1220359741 | USH2A | c.14799G= (p.Gln4933=)
| |
1 | g.215640727C>G | CA344828622 | USH2A | c.14799G>C (p.Gln4933His)
| |
1 | g.215640727C>T | CA423306926 | USH2A | c.14799G>A (p.Gln4933=)
| |
1 | g.215640728T>A | CA1392912 | USH2A | c.14798A>T (p.Gln4933Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215640728T>C | CA344828626 | USH2A | c.14798A>G (p.Gln4933Arg)
| |
1 | g.215640728T>G | CA344828627 | USH2A | c.14798A>C (p.Gln4933Pro)
| gnomAD v4 |
1 | g.215640728T= | CA1220359742 | USH2A | c.14798A= (p.Gln4933=)
| |
1 | g.215640729G>A | CA344828629 | USH2A | c.14797C>T (p.Gln4933Ter)
| COSMIC COSMIC |
1 | g.215640729G>C | CA344828630 | USH2A | c.14797C>G (p.Gln4933Glu)
| gnomAD v4 |
1 | g.215640729G>T | CA344828634 | USH2A | c.14797C>A (p.Gln4933Lys)
| |
1 | g.215640730A= | CA1220359743 | USH2A | c.14796T= (p.Pro4932=)
| |
1 | g.215640730A>C | CA423306927 | USH2A | c.14796T>G (p.Pro4932=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215640730A>G | CA423306928 | USH2A | c.14796T>C (p.Pro4932=)
| |
1 | g.215640730A>T | CA423306929 | USH2A | c.14796T>A (p.Pro4932=)
| dbSNP |
1 | g.215640731G>A | CA344828648 | USH2A | c.14795C>T (p.Pro4932Leu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215640731G>C | CA344828644 | USH2A | c.14795C>G (p.Pro4932Arg)
| |
1 | g.215640731G= | CA1220359744 | USH2A | c.14795C= (p.Pro4932=)
| |
1 | g.215640731G>T | CA344828641 | USH2A | c.14795C>A (p.Pro4932His)
| |
1 | g.215640732G>A | CA344828653 | USH2A | c.14794C>T (p.Pro4932Ser)
| |
1 | g.215640732G>C | CA344828655 | USH2A | c.14794C>G (p.Pro4932Ala)
| |
1 | g.215640732G>T | CA344828654 | USH2A | c.14794C>A (p.Pro4932Thr)
| |
1 | g.215640733C>A | CA344828656 | USH2A | c.14793G>T (p.Leu4931Phe)
| |
1 | g.215640733C>G | CA344828658 | USH2A | c.14793G>C (p.Leu4931Phe)
| |
1 | g.215640733C>T | CA423306930 | USH2A | c.14793G>A (p.Leu4931=)
| |
1 | g.215640734A= | CA1220359745 | USH2A | c.14792T= (p.Leu4931=)
| |
1 | g.215640734A>C | CA344828660 | USH2A | c.14792T>G (p.Leu4931Trp)
| |
1 | g.215640734A>G | CA344828668 | USH2A | c.14792T>C (p.Leu4931Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215640734A>T | CA344828669 | USH2A | c.14792T>A (p.Leu4931Ter)
| |
1 | g.215640734dup | CA2586968102 | USH2A | c.14792dup (p.Leu4931PhefsTer23)
| |
1 | g.215640735C>A | CA344828672 | USH2A | c.14792-1G>T (n.14792-1G>T)
| ClinVar |
1 | g.215640735C>G | CA344828673 | USH2A | c.14792-1G>C (n.14792-1G>C)
| |
1 | g.215640735C>T | CA344828674 | USH2A | c.14792-1G>A (n.14792-1G>A)
| ClinVar |