Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.21560705C>A | CA338877611 | ALPL | c.141C>A (p.Asn47Lys) n.201C>A c.26C>A (p.Thr9Lys) c.-25C>A (n.-25C>A) | |
1 | g.21560705C>G | CA338877612 | ALPL | c.141C>G (p.Asn47Lys) n.201C>G c.26C>G (p.Thr9Arg) c.-25C>G (n.-25C>G) | |
1 | g.21560705C>T | CA338877613 | ALPL | c.141C>T (p.Asn47=) n.201C>T c.26C>T (p.Thr9Ile) c.-25C>T (n.-25C>T) | |
1 | g.21560706A>C | CA338877614 | ALPL | c.142A>C (p.Thr48Pro) n.202A>C c.27A>C (p.Thr9=) c.-24A>C (n.-24A>C) | |
1 | g.21560706A>G | CA338877615 | ALPL | c.142A>G (p.Thr48Ala) n.202A>G c.27A>G (p.Thr9=) c.-24A>G (n.-24A>G) | |
1 | g.21560706A>T | CA338877616 | ALPL | c.142A>T (p.Thr48Ser) n.202A>T c.27A>T (p.Thr9=) c.-24A>T (n.-24A>T) | |
1 | g.21560707C>A | CA338877619 | ALPL | c.143C>A (p.Thr48Asn) n.203C>A c.28C>A (p.Pro10Thr) c.-23C>A (n.-23C>A) | |
1 | g.21560707C= | CA1158013053 | ALPL | c.143C= (p.Thr48=) n.203C= c.28C= (p.Pro10=) c.-23C= (n.-23C=) | |
1 | g.21560707C>G | CA338877618 | ALPL | c.143C>G (p.Thr48Ser) n.203C>G c.28C>G (p.Pro10Ala) c.-23C>G (n.-23C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21560707C>T | CA338877617 | ALPL | c.143C>T (p.Thr48Ile) n.203C>T c.28C>T (p.Pro10Ser) c.-23C>T (n.-23C>T) | ClinVar dbSNP |
1 | g.21560708C>A | CA338877620 | ALPL | c.144C>A (p.Thr48=) n.204C>A c.29C>A (p.Pro10Gln) c.-22C>A (n.-22C>A) | |
1 | g.21560708C>G | CA338877622 | ALPL | c.144C>G (p.Thr48=) n.204C>G c.29C>G (p.Pro10Arg) c.-22C>G (n.-22C>G) | |
1 | g.21560708C>T | CA338877621 | ALPL | c.144C>T (p.Thr48=) n.204C>T c.29C>T (p.Pro10Leu) c.-22C>T (n.-22C>T) | |
1 | g.21560708_21560712dup | CA2586966215 | ALPL | c.144_148dup (p.Val50AlafsTer20) n.204_208dup c.29_33dup (p.Trp12GlnfsTer4) c.-22_-18dup (n.-22_-18dup) | |
1 | g.21560709A= | CA1158013054 | ALPL | c.145A= (p.Asn49=) n.205A= c.30A= (p.Pro10=) c.-21A= (n.-21A=) | |
1 | g.21560709A>C | CA338877623 | ALPL | c.145A>C (p.Asn49His) n.205A>C c.30A>C (p.Pro10=) c.-21A>C (n.-21A>C) | |
1 | g.21560709A>G | CA338877624 | ALPL | c.145A>G (p.Asn49Asp) n.205A>G c.30A>G (p.Pro10=) c.-21A>G (n.-21A>G) | ClinVar dbSNP |
1 | g.21560709A>T | CA338877625 | ALPL | c.145A>T (p.Asn49Tyr) n.205A>T c.30A>T (p.Pro10=) c.-21A>T (n.-21A>T) | |
1 | g.21560710dup | CA2572364558 | ALPL | c.146dup (p.Asn49LysfsTer4) n.206dup c.31dup (p.Thr11AsnfsTer22) c.-20dup (n.-20dup) c.31dup (p.Thr11AsnfsTer?) | |
1 | g.21560710A= | CA1158013055 | ALPL | c.146A= (p.Asn49=) n.206A= c.31A= (p.Thr11=) c.-20A= (n.-20A=) | |
1 | g.21560710A>C | CA338877626 | ALPL | c.146A>C (p.Asn49Thr) n.206A>C c.31A>C (p.Thr11Pro) c.-20A>C (n.-20A>C) | |
1 | g.21560710A>G | CA19088109 | ALPL | c.146A>G (p.Asn49Ser) n.206A>G c.31A>G (p.Thr11Ala) c.-20A>G (n.-20A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21560710A>T | CA338877627 | ALPL | c.146A>T (p.Asn49Ile) n.206A>T c.31A>T (p.Thr11Ser) c.-20A>T (n.-20A>T) | ClinVar dbSNP |
1 | g.21560711C>A | CA666405 | ALPL | c.147C>A (p.Asn49Lys) n.207C>A c.32C>A (p.Thr11Lys) c.-19C>A (n.-19C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21560711C= | CA1145196812 | ALPL | c.147C= (p.Asn49=) n.207C= c.32C= (p.Thr11=) c.-19C= (n.-19C=) | |
1 | g.21560711C>G | CA338877628 | ALPL | c.147C>G (p.Asn49Lys) n.207C>G c.32C>G (p.Thr11Arg) c.-19C>G (n.-19C>G) | dbSNP gnomAD v4 |
1 | g.21560711C>T | CA666404 | ALPL | c.147C>T (p.Asn49=) n.207C>T c.32C>T (p.Thr11Met) c.-19C>T (n.-19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21560712G>A | CA666406 | ALPL | c.148G>A (p.Val50Met) n.208G>A c.33G>A (p.Thr11=) c.-18G>A (n.-18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21560712G>C | CA338877629 | ALPL | c.148G>C (p.Val50Leu) n.208G>C c.33G>C (p.Thr11=) c.-18G>C (n.-18G>C) | |
1 | g.21560712G= | CA1158013056 | ALPL | c.148G= (p.Val50=) n.208G= c.33G= (p.Thr11=) c.-18G= (n.-18G=) | |
1 | g.21560712G>T | CA338877630 | ALPL | c.148G>T (p.Val50Leu) n.208G>T c.33G>T (p.Thr11=) c.-18G>T (n.-18G>T) | |
1 | g.21560713T>A | CA338877631 | ALPL | c.149T>A (p.Val50Glu) n.209T>A c.34T>A (p.Trp12Arg) c.-17T>A (n.-17T>A) | |
1 | g.21560713T>C | CA338877633 | ALPL | c.149T>C (p.Val50Ala) n.209T>C c.34T>C (p.Trp12Arg) c.-17T>C (n.-17T>C) | |
1 | g.21560713T>G | CA338877632 | ALPL | c.149T>G (p.Val50Gly) n.209T>G c.34T>G (p.Trp12Gly) c.-17T>G (n.-17T>G) | gnomAD v4 |
1 | g.21560714G>A | CA338877634 | ALPL | c.150G>A (p.Val50=) n.210G>A c.35G>A (p.Trp12Ter) c.-16G>A (n.-16G>A) | ClinVar dbSNP |
1 | g.21560714G>C | CA338877635 | ALPL | c.150G>C (p.Val50=) n.210G>C c.35G>C (p.Trp12Ser) c.-16G>C (n.-16G>C) | |
1 | g.21560714G>T | CA338877636 | ALPL | c.150G>T (p.Val50=) n.210G>T c.35G>T (p.Trp12Leu) c.-16G>T (n.-16G>T) | |
1 | g.21560714_21560731delinsGGCTAAGAATGTCATCAT | CA1158013057 | ALPL | c.150_167delinsGGCTAAGAATGTCATCAT (p.Val50=) n.210_227delinsGGCTAAGAATGTCATCAT c.35_52delinsGGCTAAGAATGTCATCAT (p.Trp12=) c.-16_2delinsGGCTAAGAATGTCATCAT | |
1 | g.21560715G>A | CA338877637 | ALPL | c.151G>A (p.Ala51Thr) n.211G>A c.36G>A (p.Trp12Ter) c.-15G>A (n.-15G>A) | |
1 | g.21560715G>C | CA338877638 | ALPL | c.151G>C (p.Ala51Pro) n.211G>C c.36G>C (p.Trp12Cys) c.-15G>C (n.-15G>C) | |
1 | g.21560715G>T | CA338877639 | ALPL | c.151G>T (p.Ala51Ser) n.211G>T c.36G>T (p.Trp12Cys) c.-15G>T (n.-15G>T) | |
1 | g.21560716_21560732del | CA1158013058 | ALPL | c.152_168del (p.Ala51ValfsTer?) n.212_228del c.37_53del (p.Leu13PhefsTer14) c.-14_3del c.37_53del (p.Leu13PhefsTer?) | dbSNP |
1 | g.21560716C>A | CA338877640 | ALPL | c.152C>A (p.Ala51Asp) n.212C>A c.37C>A (p.Leu13Ile) c.-14C>A (n.-14C>A) | |
1 | g.21560716C= | CA1158013059 | ALPL | c.152C= (p.Ala51=) n.212C= c.37C= (p.Leu13=) c.-14C= (n.-14C=) | |
1 | g.21560716C>G | CA338877641 | ALPL | c.152C>G (p.Ala51Gly) n.212C>G c.37C>G (p.Leu13Val) c.-14C>G (n.-14C>G) | |
1 | g.21560716C>T | CA338877642 | ALPL | c.152C>T (p.Ala51Val) n.212C>T c.37C>T (p.Leu13=) c.-14C>T (n.-14C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21560717T>A | CA338877644 | ALPL | c.153T>A (p.Ala51=) n.213T>A c.38T>A (p.Leu13Gln) c.-13T>A (n.-13T>A) | |
1 | g.21560717T>C | CA338877645 | ALPL | c.153T>C (p.Ala51=) n.213T>C c.38T>C (p.Leu13Pro) c.-13T>C (n.-13T>C) | |
1 | g.21560717T>G | CA338877643 | ALPL | c.153T>G (p.Ala51=) n.213T>G c.38T>G (p.Leu13Arg) c.-13T>G (n.-13T>G) | |
1 | g.21560718A>C | CA338877646 | ALPL | c.154A>C (p.Lys52Gln) n.214A>C c.39A>C (p.Leu13=) c.-12A>C (n.-12A>C) |