Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.55248621T>C | CA2679182220 | HCRTR2 | c.224-18T>C (n.224-18T>C) c.29-18T>C (n.29-18T>C) | gnomAD v4 |
6 | g.55248625del | CA2679182219 | HCRTR2 | c.224-14del (n.224-14del) c.29-14del (n.29-14del) | gnomAD v4 |
6 | g.55248624T>C | CA3863427 | HCRTR2 | c.224-15T>C (n.224-15T>C) c.29-15T>C (n.29-15T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.55248625T>C | CA3863428 | HCRTR2 | c.224-14T>C (n.224-14T>C) c.29-14T>C (n.29-14T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.55248626del | CA917753334 | HCRTR2 | c.224-13del (n.224-13del) c.29-13del (n.29-13del) | dbSNP gnomAD v4 |
6 | g.55248626C>T | CA139607828 | HCRTR2 | c.224-13C>T (n.224-13C>T) c.29-13C>T (n.29-13C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.55248627T>A | CA2679182222 | HCRTR2 | c.224-12T>A (n.224-12T>A) c.29-12T>A (n.29-12T>A) | gnomAD v4 |
6 | g.55248627T>C | CA2578651944 | HCRTR2 | c.224-12T>C (n.224-12T>C) c.29-12T>C (n.29-12T>C) | gnomAD v4 |
6 | g.55248630del | CA2679182221 | HCRTR2 | c.224-9del (n.224-9del) c.29-9del (n.29-9del) | gnomAD v4 |
6 | g.55248628T>C | CA2679182223 | HCRTR2 | c.224-11T>C (n.224-11T>C) c.29-11T>C (n.29-11T>C) | gnomAD v4 |
6 | g.55248628T>G | CA3863429 | HCRTR2 | c.224-11T>G (n.224-11T>G) c.29-11T>G (n.29-11T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.55248629T>C | CA2679182224 | HCRTR2 | c.224-10T>C (n.224-10T>C) c.29-10T>C (n.29-10T>C) | gnomAD v4 |
6 | g.55248631C>G | CA139607829 | HCRTR2 | c.224-8C>G (n.224-8C>G) c.29-8C>G (n.29-8C>G) | dbSNP |
6 | g.55248631_55248634del | CA567639513 | HCRTR2 | c.224-8_224-5del (n.224-8_224-5del) c.29-8_29-5del (n.29-8_29-5del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.55248632A>C | CA2679182225 | HCRTR2 | c.224-7A>C (n.224-7A>C) c.29-7A>C (n.29-7A>C) | gnomAD v4 |
6 | g.55248632A>T | CA1089223043 | HCRTR2 | c.224-7A>T (n.224-7A>T) c.29-7A>T (n.29-7A>T) | gnomAD v3 gnomAD v4 |
6 | g.55248633A>C | CA2711484599 | HCRTR2 | c.224-6A>C (n.224-6A>C) c.29-6A>C (n.29-6A>C) | dbSNP |
6 | g.55248633A>G | CA3863430 | HCRTR2 | c.224-6A>G (n.224-6A>G) c.29-6A>G (n.29-6A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.55248634A>G | CA2679182226 | HCRTR2 | c.224-5A>G (n.224-5A>G) c.29-5A>G (n.29-5A>G) | gnomAD v4 |
6 | g.55248635T>A | CA2578651945 | HCRTR2 | c.224-4T>A (n.224-4T>A) c.29-4T>A (n.29-4T>A) | gnomAD v4 |
6 | g.55248635T>C | CA567639515 | HCRTR2 | c.224-4T>C (n.224-4T>C) c.29-4T>C (n.29-4T>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.55248636_55248637insTTTT | CA567639514 | HCRTR2 | c.224-3_224-2insTTTT (n.224-3_224-2insTTTT) c.29-3_29-2insTTTT (n.29-3_29-2insTTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.55248637A>C | CA364609011 | HCRTR2 | c.224-2A>C (n.224-2A>C) c.29-2A>C (n.29-2A>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55248637A>G | CA364609012 | HCRTR2 | c.224-2A>G (n.224-2A>G) c.29-2A>G (n.29-2A>G) | |
6 | g.55248637A>T | CA364609013 | HCRTR2 | c.224-2A>T (n.224-2A>T) c.29-2A>T (n.29-2A>T) | gnomAD v3 gnomAD v4 |
6 | g.55248638G>A | CA364609016 | HCRTR2 | c.224-1G>A (n.224-1G>A) c.29-1G>A (n.29-1G>A) | COSMIC |
6 | g.55248638G>C | CA364609015 | HCRTR2 | c.224-1G>C (n.224-1G>C) c.29-1G>C (n.29-1G>C) | dbSNP gnomAD v2 |
6 | g.55248638G>T | CA364609014 | HCRTR2 | c.224-1G>T (n.224-1G>T) c.29-1G>T (n.29-1G>T) | gnomAD v3 gnomAD v4 |
6 | g.55248639T>A | CA364609017 | HCRTR2 | c.224T>A (p.Val75Asp) c.29T>A (p.Val10Asp) | |
6 | g.55248639T>C | CA364609018 | HCRTR2 | c.224T>C (p.Val75Ala) c.29T>C (p.Val10Ala) | |
6 | g.55248639T>G | CA364609019 | HCRTR2 | c.224T>G (p.Val75Gly) c.29T>G (p.Val10Gly) | |
6 | g.55248640T>A | CA450593414 | HCRTR2 | c.225T>A (p.Val75=) c.30T>A (p.Val10=) | |
6 | g.55248640T>C | CA3863431 | HCRTR2 | c.225T>C (p.Val75=) c.30T>C (p.Val10=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.55248640T>G | CA450593415 | HCRTR2 | c.225T>G (p.Val75=) c.30T>G (p.Val10=) | |
6 | g.55248641T>A | CA364609020 | HCRTR2 | c.226T>A (p.Cys76Ser) c.31T>A (p.Cys11Ser) | |
6 | g.55248641T>C | CA364609021 | HCRTR2 | c.226T>C (p.Cys76Arg) c.31T>C (p.Cys11Arg) | gnomAD v4 |
6 | g.55248641T>G | CA364609022 | HCRTR2 | c.226T>G (p.Cys76Gly) c.31T>G (p.Cys11Gly) | gnomAD v4 |
6 | g.55248642G>A | CA364609023 | HCRTR2 | c.227G>A (p.Cys76Tyr) c.32G>A (p.Cys11Tyr) | |
6 | g.55248642G>C | CA364609024 | HCRTR2 | c.227G>C (p.Cys76Ser) c.32G>C (p.Cys11Ser) | |
6 | g.55248642G>T | CA364609025 | HCRTR2 | c.227G>T (p.Cys76Phe) c.32G>T (p.Cys11Phe) | |
6 | g.55248643T>A | CA364609026 | HCRTR2 | c.228T>A (p.Cys76Ter) c.33T>A (p.Cys11Ter) | |
6 | g.55248643T>C | CA3863432 | HCRTR2 | c.228T>C (p.Cys76=) c.33T>C (p.Cys11=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.55248643T>G | CA364609027 | HCRTR2 | c.228T>G (p.Cys76Trp) c.33T>G (p.Cys11Trp) | |
6 | g.55248644G>A | CA364609029 | HCRTR2 | c.229G>A (p.Val77Met) c.34G>A (p.Val12Met) | dbSNP gnomAD v4 |
6 | g.55248644G>C | CA364609030 | HCRTR2 | c.229G>C (p.Val77Leu) c.34G>C (p.Val12Leu) | |
6 | g.55248644G>T | CA364609028 | HCRTR2 | c.229G>T (p.Val77Leu) c.34G>T (p.Val12Leu) | gnomAD v4 |
6 | g.55248645T>A | CA364609031 | HCRTR2 | c.230T>A (p.Val77Glu) c.35T>A (p.Val12Glu) | |
6 | g.55248645T>C | CA364609032 | HCRTR2 | c.230T>C (p.Val77Ala) c.35T>C (p.Val12Ala) | |
6 | g.55248645T>G | CA364609033 | HCRTR2 | c.230T>G (p.Val77Gly) c.35T>G (p.Val12Gly) | |
6 | g.55248646G>A | CA450593416 | HCRTR2 | c.231G>A (p.Val77=) c.36G>A (p.Val12=) |