Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.54627882G>A | CA4751787 | RP1 | c.4000G>A (p.Val1334Ile) c.787+5594G>A (n.787+5594G>A) c.4021G>A (p.Val1341Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627882G>C | CA370980935 | RP1 | c.4000G>C (p.Val1334Leu) c.787+5594G>C (n.787+5594G>C) c.4021G>C (p.Val1341Leu) | |
8 | g.54627882G= | CA1785188932 | RP1 | c.4000G= (p.Val1334=) c.787+5594G= (n.787+5594G=) c.4021G= (p.Val1341=) | |
8 | g.54627882G>T | CA370980938 | RP1 | c.4000G>T (p.Val1334Phe) c.787+5594G>T (n.787+5594G>T) c.4021G>T (p.Val1341Phe) | gnomAD v4 |
8 | g.54627883T>A | CA370980941 | RP1 | c.4001T>A (p.Val1334Asp) c.787+5595T>A (n.787+5595T>A) c.4022T>A (p.Val1341Asp) | |
8 | g.54627883T>C | CA370980943 | RP1 | c.4001T>C (p.Val1334Ala) c.787+5595T>C (n.787+5595T>C) c.4022T>C (p.Val1341Ala) | COSMIC |
8 | g.54627883T>G | CA370980945 | RP1 | c.4001T>G (p.Val1334Gly) c.787+5595T>G (n.787+5595T>G) c.4022T>G (p.Val1341Gly) | |
8 | g.54627884T>A | CA461099646 | RP1 | c.4002T>A (p.Val1334=) c.787+5596T>A (n.787+5596T>A) c.4023T>A (p.Val1341=) | |
8 | g.54627884T>C | CA461099647 | RP1 | c.4002T>C (p.Val1334=) c.787+5596T>C (n.787+5596T>C) c.4023T>C (p.Val1341=) | |
8 | g.54627884T>G | CA461099648 | RP1 | c.4002T>G (p.Val1334=) c.787+5596T>G (n.787+5596T>G) c.4023T>G (p.Val1341=) | |
8 | g.54627885C>A | CA370980948 | RP1 | c.4003C>A (p.Pro1335Thr) c.787+5597C>A (n.787+5597C>A) c.4024C>A (p.Pro1342Thr) | |
8 | g.54627885C>G | CA370980950 | RP1 | c.4003C>G (p.Pro1335Ala) c.787+5597C>G (n.787+5597C>G) c.4024C>G (p.Pro1342Ala) | gnomAD v4 |
8 | g.54627885C>T | CA370980953 | RP1 | c.4003C>T (p.Pro1335Ser) c.787+5597C>T (n.787+5597C>T) c.4024C>T (p.Pro1342Ser) | COSMIC |
8 | g.54627886C>A | CA370980956 | RP1 | c.4004C>A (p.Pro1335His) c.787+5598C>A (n.787+5598C>A) c.4025C>A (p.Pro1342His) | COSMIC |
8 | g.54627886C>G | CA370980960 | RP1 | c.4004C>G (p.Pro1335Arg) c.787+5598C>G (n.787+5598C>G) c.4025C>G (p.Pro1342Arg) | |
8 | g.54627886C>T | CA370980958 | RP1 | c.4004C>T (p.Pro1335Leu) c.787+5598C>T (n.787+5598C>T) c.4025C>T (p.Pro1342Leu) | COSMIC |
8 | g.54627887T>A | CA461099651 | RP1 | c.4005T>A (p.Pro1335=) c.787+5599T>A (n.787+5599T>A) c.4026T>A (p.Pro1342=) | |
8 | g.54627887T>C | CA461099652 | RP1 | c.4005T>C (p.Pro1335=) c.787+5599T>C (n.787+5599T>C) c.4026T>C (p.Pro1342=) | gnomAD v4 |
8 | g.54627887T>G | CA461099655 | RP1 | c.4005T>G (p.Pro1335=) c.787+5599T>G (n.787+5599T>G) c.4026T>G (p.Pro1342=) | |
8 | g.54627888G>A | CA370980963 | RP1 | c.4006G>A (p.Val1336Ile) c.787+5600G>A (n.787+5600G>A) c.4027G>A (p.Val1343Ile) | ClinVar |
8 | g.54627888G>C | CA370980966 | RP1 | c.4006G>C (p.Val1336Leu) c.787+5600G>C (n.787+5600G>C) c.4027G>C (p.Val1343Leu) | |
8 | g.54627888G>T | CA370980968 | RP1 | c.4006G>T (p.Val1336Phe) c.787+5600G>T (n.787+5600G>T) c.4027G>T (p.Val1343Phe) | |
8 | g.54627889T>A | CA370980971 | RP1 | c.4007T>A (p.Val1336Asp) c.787+5601T>A (n.787+5601T>A) c.4028T>A (p.Val1343Asp) | |
8 | g.54627889T>C | CA370980972 | RP1 | c.4007T>C (p.Val1336Ala) c.787+5601T>C (n.787+5601T>C) c.4028T>C (p.Val1343Ala) | |
8 | g.54627889T>G | CA370980975 | RP1 | c.4007T>G (p.Val1336Gly) c.787+5601T>G (n.787+5601T>G) c.4028T>G (p.Val1343Gly) | |
8 | g.54627890C>A | CA461099659 | RP1 | c.4008C>A (p.Val1336=) c.787+5602C>A (n.787+5602C>A) c.4029C>A (p.Val1343=) | |
8 | g.54627890C>G | CA461099660 | RP1 | c.4008C>G (p.Val1336=) c.787+5602C>G (n.787+5602C>G) c.4029C>G (p.Val1343=) | dbSNP |
8 | g.54627890C>T | CA461099661 | RP1 | c.4008C>T (p.Val1336=) c.787+5602C>T (n.787+5602C>T) c.4029C>T (p.Val1343=) | |
8 | g.54627891A>C | CA370980977 | RP1 | c.4009A>C (p.Asn1337His) c.787+5603A>C (n.787+5603A>C) c.4030A>C (p.Asn1344His) | |
8 | g.54627891A>G | CA370980979 | RP1 | c.4009A>G (p.Asn1337Asp) c.787+5603A>G (n.787+5603A>G) c.4030A>G (p.Asn1344Asp) | |
8 | g.54627891A>T | CA370980981 | RP1 | c.4009A>T (p.Asn1337Tyr) c.787+5603A>T (n.787+5603A>T) c.4030A>T (p.Asn1344Tyr) | |
8 | g.54627892A>C | CA370980983 | RP1 | c.4010A>C (p.Asn1337Thr) c.787+5604A>C (n.787+5604A>C) c.4031A>C (p.Asn1344Thr) | |
8 | g.54627892A>G | CA370980984 | RP1 | c.4010A>G (p.Asn1337Ser) c.787+5604A>G (n.787+5604A>G) c.4031A>G (p.Asn1344Ser) | gnomAD v4 |
8 | g.54627892A>T | CA370980986 | RP1 | c.4010A>T (p.Asn1337Ile) c.787+5604A>T (n.787+5604A>T) c.4031A>T (p.Asn1344Ile) | |
8 | g.54627893T>A | CA370980991 | RP1 | c.4011T>A (p.Asn1337Lys) c.787+5605T>A (n.787+5605T>A) c.4032T>A (p.Asn1344Lys) | |
8 | g.54627893T>C | CA4751788 | RP1 | c.4011T>C (p.Asn1337=) c.787+5605T>C (n.787+5605T>C) c.4032T>C (p.Asn1344=) | dbSNP ExAC gnomAD v2 COSMIC |
8 | g.54627893T>G | CA370980989 | RP1 | c.4011T>G (p.Asn1337Lys) c.787+5605T>G (n.787+5605T>G) c.4032T>G (p.Asn1344Lys) | |
8 | g.54627893T= | CA1785188933 | RP1 | c.4011T= (p.Asn1337=) c.787+5605T= (n.787+5605T=) c.4032T= (p.Asn1344=) | |
8 | g.54627894G>A | CA370980995 | RP1 | c.4012G>A (p.Val1338Ile) c.787+5606G>A (n.787+5606G>A) c.4033G>A (p.Val1345Ile) | |
8 | g.54627894G>C | CA370980996 | RP1 | c.4012G>C (p.Val1338Leu) c.787+5606G>C (n.787+5606G>C) c.4033G>C (p.Val1345Leu) | |
8 | g.54627894G>T | CA370980999 | RP1 | c.4012G>T (p.Val1338Phe) c.787+5606G>T (n.787+5606G>T) c.4033G>T (p.Val1345Phe) | |
8 | g.54627895T>A | CA370981000 | RP1 | c.4013T>A (p.Val1338Asp) c.787+5607T>A (n.787+5607T>A) c.4034T>A (p.Val1345Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627895T>C | CA370981003 | RP1 | c.4013T>C (p.Val1338Ala) c.787+5607T>C (n.787+5607T>C) c.4034T>C (p.Val1345Ala) | COSMIC |
8 | g.54627895T>G | CA4751789 | RP1 | c.4013T>G (p.Val1338Gly) c.787+5607T>G (n.787+5607T>G) c.4034T>G (p.Val1345Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54627895T= | CA1785188934 | RP1 | c.4013T= (p.Val1338=) c.787+5607T= (n.787+5607T=) c.4034T= (p.Val1345=) | |
8 | g.54627896C>A | CA461099675 | RP1 | c.4014C>A (p.Val1338=) c.787+5608C>A (n.787+5608C>A) c.4035C>A (p.Val1345=) | |
8 | g.54627896C>G | CA461099673 | RP1 | c.4014C>G (p.Val1338=) c.787+5608C>G (n.787+5608C>G) c.4035C>G (p.Val1345=) | gnomAD v4 |
8 | g.54627896C>T | CA461099674 | RP1 | c.4014C>T (p.Val1338=) c.787+5608C>T (n.787+5608C>T) c.4035C>T (p.Val1345=) | |
8 | g.54627897T>A | CA370981008 | RP1 | c.4015T>A (p.Cys1339Ser) c.787+5609T>A (n.787+5609T>A) c.4036T>A (p.Cys1346Ser) | |
8 | g.54627897T>C | CA370981011 | RP1 | c.4015T>C (p.Cys1339Arg) c.787+5609T>C (n.787+5609T>C) c.4036T>C (p.Cys1346Arg) |