Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.130464113del | CA16041299 | ASS1 | c.366del c.364-2612del (n.364-2612del) n.75del c.480del c.462del | ClinVar dbSNP |
9 | g.130464113G>A | CA467388728 | ASS1 | c.366G>A (p.Gly122=) c.364-2612G>A (n.364-2612G>A) n.75G>A c.480G>A (p.Gly160=) c.462G>A (p.Gly154=) | gnomAD v4 |
9 | g.130464113G>C | CA467388729 | ASS1 | c.366G>C (p.Gly122=) c.364-2612G>C (n.364-2612G>C) n.75G>C c.480G>C (p.Gly160=) c.462G>C (p.Gly154=) | |
9 | g.130464113G>T | CA467388730 | ASS1 | c.366G>T (p.Gly122=) c.364-2612G>T (n.364-2612G>T) n.75G>T c.480G>T (p.Gly160=) c.462G>T (p.Gly154=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.130464114A>C | CA375225752 | ASS1 | c.367A>C (p.Asn123His) c.364-2611A>C (n.364-2611A>C) n.76A>C c.481A>C (p.Asn161His) c.463A>C (p.Asn155His) | |
9 | g.130464114A>G | CA375225753 | ASS1 | c.367A>G (p.Asn123Asp) c.364-2611A>G (n.364-2611A>G) n.76A>G c.481A>G (p.Asn161Asp) c.463A>G (p.Asn155Asp) | |
9 | g.130464114A>T | CA375225754 | ASS1 | c.367A>T (p.Asn123Tyr) c.364-2611A>T (n.364-2611A>T) n.76A>T c.481A>T (p.Asn161Tyr) c.463A>T (p.Asn155Tyr) | |
9 | g.130464115A>C | CA375225755 | ASS1 | c.368A>C (p.Asn123Thr) c.364-2610A>C (n.364-2610A>C) n.77A>C c.482A>C (p.Asn161Thr) c.464A>C (p.Asn155Thr) | COSMIC |
9 | g.130464115A>G | CA375225756 | ASS1 | c.368A>G (p.Asn123Ser) c.364-2610A>G (n.364-2610A>G) n.77A>G c.482A>G (p.Asn161Ser) c.464A>G (p.Asn155Ser) | |
9 | g.130464115A>T | CA375225757 | ASS1 | c.368A>T (p.Asn123Ile) c.364-2610A>T (n.364-2610A>T) n.77A>T c.482A>T (p.Asn161Ile) c.464A>T (p.Asn155Ile) | |
9 | g.130464116C>A | CA375225759 | ASS1 | c.369C>A (p.Asn123Lys) c.364-2609C>A (n.364-2609C>A) n.78C>A c.483C>A (p.Asn161Lys) c.465C>A (p.Asn155Lys) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130464116C= | CA1881252639 | ASS1 | c.369C= (p.Asn123=) c.364-2609C= (n.364-2609C=) n.78C= c.483C= (p.Asn161=) c.465C= (p.Asn155=) | |
9 | g.130464116C>G | CA375225758 | ASS1 | c.369C>G (p.Asn123Lys) c.364-2609C>G (n.364-2609C>G) n.78C>G c.483C>G (p.Asn161Lys) c.465C>G (p.Asn155Lys) | |
9 | g.130464116C>T | CA5283259 | ASS1 | c.369C>T (p.Asn123=) c.364-2609C>T (n.364-2609C>T) n.78C>T c.483C>T (p.Asn161=) c.465C>T (p.Asn155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130464117G>A | CA200612215 | ASS1 | c.370G>A (p.Asp124Asn) c.364-2608G>A (n.364-2608G>A) n.79G>A c.484G>A (p.Asp162Asn) c.466G>A (p.Asp156Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.130464117G>C | CA375225760 | ASS1 | c.370G>C (p.Asp124His) c.364-2608G>C (n.364-2608G>C) n.79G>C c.484G>C (p.Asp162His) c.466G>C (p.Asp156His) | dbSNP gnomAD v4 |
9 | g.130464117G= | CA1881252640 | ASS1 | c.370G= (p.Asp124=) c.364-2608G= (n.364-2608G=) n.79G= c.484G= (p.Asp162=) c.466G= (p.Asp156=) | |
9 | g.130464117G>T | CA375225761 | ASS1 | c.370G>T (p.Asp124Tyr) c.364-2608G>T (n.364-2608G>T) n.79G>T c.484G>T (p.Asp162Tyr) c.466G>T (p.Asp156Tyr) | ClinVar COSMIC |
9 | g.130464118A>C | CA375225762 | ASS1 | c.371A>C (p.Asp124Ala) c.364-2607A>C (n.364-2607A>C) n.80A>C c.485A>C (p.Asp162Ala) c.467A>C (p.Asp156Ala) | |
9 | g.130464118A>G | CA375225763 | ASS1 | c.371A>G (p.Asp124Gly) c.364-2607A>G (n.364-2607A>G) n.80A>G c.485A>G (p.Asp162Gly) c.467A>G (p.Asp156Gly) | |
9 | g.130464118A>T | CA375225764 | ASS1 | c.371A>T (p.Asp124Val) c.364-2607A>T (n.364-2607A>T) n.80A>T c.485A>T (p.Asp162Val) c.467A>T (p.Asp156Val) | |
9 | g.130464119T>A | CA375225765 | ASS1 | c.372T>A (p.Asp124Glu) c.364-2606T>A (n.364-2606T>A) n.81T>A c.486T>A (p.Asp162Glu) c.468T>A (p.Asp156Glu) | dbSNP gnomAD v4 |
9 | g.130464119T>C | CA467388731 | ASS1 | c.372T>C (p.Asp124=) c.364-2606T>C (n.364-2606T>C) n.81T>C c.486T>C (p.Asp162=) c.468T>C (p.Asp156=) | |
9 | g.130464119T>G | CA375225766 | ASS1 | c.372T>G (p.Asp124Glu) c.364-2606T>G (n.364-2606T>G) n.81T>G c.486T>G (p.Asp162Glu) c.468T>G (p.Asp156Glu) | |
9 | g.130464119T= | CA1881252641 | ASS1 | c.372T= (p.Asp124=) c.364-2606T= (n.364-2606T=) n.81T= c.486T= (p.Asp162=) c.468T= (p.Asp156=) | |
9 | g.130464120C>A | CA375225767 | ASS1 | c.373C>A (p.Gln125Lys) c.364-2605C>A (n.364-2605C>A) n.82C>A c.487C>A (p.Gln163Lys) c.469C>A (p.Gln157Lys) | |
9 | g.130464120C>G | CA375225768 | ASS1 | c.373C>G (p.Gln125Glu) c.364-2605C>G (n.364-2605C>G) n.82C>G c.487C>G (p.Gln163Glu) c.469C>G (p.Gln157Glu) | |
9 | g.130464120C>T | CA375225769 | ASS1 | c.373C>T (p.Gln125Ter) c.364-2605C>T (n.364-2605C>T) n.82C>T c.487C>T (p.Gln163Ter) c.469C>T (p.Gln157Ter) | ClinVar dbSNP gnomAD v4 |
9 | g.130464121A>C | CA375225770 | ASS1 | c.374A>C (p.Gln125Pro) c.364-2604A>C (n.364-2604A>C) n.83A>C c.488A>C (p.Gln163Pro) c.470A>C (p.Gln157Pro) | |
9 | g.130464121A>G | CA375225771 | ASS1 | c.374A>G (p.Gln125Arg) c.364-2604A>G (n.364-2604A>G) n.83A>G c.488A>G (p.Gln163Arg) c.470A>G (p.Gln157Arg) | COSMIC |
9 | g.130464121A>T | CA375225772 | ASS1 | c.374A>T (p.Gln125Leu) c.364-2604A>T (n.364-2604A>T) n.83A>T c.488A>T (p.Gln163Leu) c.470A>T (p.Gln157Leu) | |
9 | g.130464122G>A | CA467388732 | ASS1 | c.375G>A (p.Gln125=) c.364-2603G>A (n.364-2603G>A) n.84G>A c.489G>A (p.Gln163=) c.471G>A (p.Gln157=) | |
9 | g.130464122G>C | CA375225774 | ASS1 | c.375G>C (p.Gln125His) c.364-2603G>C (n.364-2603G>C) n.84G>C c.489G>C (p.Gln163His) c.471G>C (p.Gln157His) | |
9 | g.130464122G>T | CA375225773 | ASS1 | c.375G>T (p.Gln125His) c.364-2603G>T (n.364-2603G>T) n.84G>T c.489G>T (p.Gln163His) c.471G>T (p.Gln157His) | |
9 | g.130464123G>A | CA375225775 | ASS1 | c.376G>A (p.Val126Ile) c.364-2602G>A (n.364-2602G>A) n.85G>A c.490G>A (p.Val164Ile) c.472G>A (p.Val158Ile) | |
9 | g.130464123G>C | CA375225776 | ASS1 | c.376G>C (p.Val126Leu) c.364-2602G>C (n.364-2602G>C) n.85G>C c.490G>C (p.Val164Leu) c.472G>C (p.Val158Leu) | |
9 | g.130464123G>T | CA375225777 | ASS1 | c.376G>T (p.Val126Phe) c.364-2602G>T (n.364-2602G>T) n.85G>T c.490G>T (p.Val164Phe) c.472G>T (p.Val158Phe) | |
9 | g.130464124T>A | CA375225778 | ASS1 | c.377T>A (p.Val126Asp) c.364-2601T>A (n.364-2601T>A) n.86T>A c.491T>A (p.Val164Asp) c.473T>A (p.Val158Asp) | |
9 | g.130464124T>C | CA375225779 | ASS1 | c.377T>C (p.Val126Ala) c.364-2601T>C (n.364-2601T>C) n.86T>C c.491T>C (p.Val164Ala) c.473T>C (p.Val158Ala) | |
9 | g.130464124T>G | CA375225780 | ASS1 | c.377T>G (p.Val126Gly) c.364-2601T>G (n.364-2601T>G) n.86T>G c.491T>G (p.Val164Gly) c.473T>G (p.Val158Gly) | |
9 | g.130464125C>A | CA467388733 | ASS1 | c.378C>A (p.Val126=) c.364-2600C>A (n.364-2600C>A) n.87C>A c.492C>A (p.Val164=) c.474C>A (p.Val158=) | |
9 | g.130464125C>G | CA467388734 | ASS1 | c.378C>G (p.Val126=) c.364-2600C>G (n.364-2600C>G) n.87C>G c.492C>G (p.Val164=) c.474C>G (p.Val158=) | ClinVar |
9 | g.130464125C>T | CA467388735 | ASS1 | c.378C>T (p.Val126=) c.364-2600C>T (n.364-2600C>T) n.87C>T c.492C>T (p.Val164=) c.474C>T (p.Val158=) | COSMIC |
9 | g.130464126C>A | CA467388736 | ASS1 | c.379C>A (p.Arg127=) c.364-2599C>A (n.364-2599C>A) n.88C>A c.493C>A (p.Arg165=) c.475C>A (p.Arg159=) | |
9 | g.130464126C= | CA1881252642 | ASS1 | c.379C= (p.Arg127=) c.364-2599C= (n.364-2599C=) n.88C= c.493C= (p.Arg165=) c.475C= (p.Arg159=) | |
9 | g.130464126C>G | CA375225781 | ASS1 | c.379C>G (p.Arg127Gly) c.364-2599C>G (n.364-2599C>G) n.88C>G c.493C>G (p.Arg165Gly) c.475C>G (p.Arg159Gly) | ClinVar dbSNP |
9 | g.130464126C>T | CA5283260 | ASS1 | c.379C>T (p.Arg127Trp) c.364-2599C>T (n.364-2599C>T) n.88C>T c.493C>T (p.Arg165Trp) c.475C>T (p.Arg159Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
9 | g.130464127G>A | CA5283261 | ASS1 | c.380G>A (p.Arg127Gln) c.364-2598G>A (n.364-2598G>A) n.89G>A c.494G>A (p.Arg165Gln) c.476G>A (p.Arg159Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130464127G>C | CA375225782 | ASS1 | c.380G>C (p.Arg127Pro) c.364-2598G>C (n.364-2598G>C) n.89G>C c.494G>C (p.Arg165Pro) c.476G>C (p.Arg159Pro) | |
9 | g.130464127G= | CA1881252643 | ASS1 | c.380G= (p.Arg127=) c.364-2598G= (n.364-2598G=) n.89G= c.494G= (p.Arg165=) c.476G= (p.Arg159=) |