Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.229432089A= | CA1226125643 | ACTA1 | c.713T= (p.Leu238=) c.578T= (p.Leu193=) c.480-227T= (n.480-227T=) | |
1 | g.229432089A>C | CA345146915 | ACTA1 | c.713T>G (p.Leu238Arg) c.578T>G (p.Leu193Arg) c.480-227T>G (n.480-227T>G) | |
1 | g.229432089A>G | CA345146916 | ACTA1 | c.713T>C (p.Leu238Pro) c.578T>C (p.Leu193Pro) c.480-227T>C (n.480-227T>C) | ClinVar dbSNP gnomAD v4 |
1 | g.229432089A>T | CA345146919 | ACTA1 | c.713T>A (p.Leu238Gln) c.578T>A (p.Leu193Gln) c.480-227T>A (n.480-227T>A) | |
1 | g.229432089_229432090delinsAG | CA1226125642 | ACTA1 | c.712_713delinsCT (p.Leu238=) c.577_578delinsCT (p.Leu193=) c.480-228_480-227delinsCT (n.480-228_480-227delinsCT) | |
1 | g.229432090G>A | CA423755104 | ACTA1 | c.712C>T (p.Leu238=) c.577C>T (p.Leu193=) c.480-228C>T (n.480-228C>T) | |
1 | g.229432090G>C | CA345146922 | ACTA1 | c.712C>G (p.Leu238Val) c.577C>G (p.Leu193Val) c.480-228C>G (n.480-228C>G) | |
1 | g.229432090G>T | CA345146924 | ACTA1 | c.712C>A (p.Leu238Met) c.577C>A (p.Leu193Met) c.480-228C>A (n.480-228C>A) | |
1 | g.229432092del | CA529915256 | ACTA1 | c.712del (p.Leu238TrpfsTer?) c.577del (p.Leu193TrpfsTer?) c.480-228del (n.480-228del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432090_229432093delinsGGGA | CA1226125644 | ACTA1 | c.709_712delinsTCCC (p.Ser237=) c.574_577delinsTCCC (p.Ser192=) c.480-231_480-228delinsTCCC (n.480-231_480-228delinsTCCC) | |
1 | g.229432091G>A | CA38815693 | ACTA1 | c.711C>T (p.Ser237=) c.576C>T (p.Ser192=) c.480-229C>T (n.480-229C>T) | dbSNP |
1 | g.229432091G>C | CA423755108 | ACTA1 | c.711C>G (p.Ser237=) c.576C>G (p.Ser192=) c.480-229C>G (n.480-229C>G) | |
1 | g.229432091G= | CA1144916092 | ACTA1 | c.711C= (p.Ser237=) c.576C= (p.Ser192=) c.480-229C= (n.480-229C=) | |
1 | g.229432091G>T | CA423755109 | ACTA1 | c.711C>A (p.Ser237=) c.576C>A (p.Ser192=) c.480-229C>A (n.480-229C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432102_229432104dup | CA2574151282 | ACTA1 | c.709_711dup (p.Ser237_Leu238insSer) c.574_576dup (p.Ser192_Leu193insSer) c.480-231_480-229dup (n.480-231_480-229dup) | gnomAD v4 |
1 | g.229432102_229432104del | CA1442812 | ACTA1 | c.709_711del (p.Ser237del) c.574_576del (p.Ser192del) c.480-231_480-229del (n.480-231_480-229del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.229432092G>A | CA345146932 | ACTA1 | c.710C>T (p.Ser237Phe) c.575C>T (p.Ser192Phe) c.480-230C>T (n.480-230C>T) | COSMIC |
1 | g.229432092G>C | CA345146933 | ACTA1 | c.710C>G (p.Ser237Cys) c.575C>G (p.Ser192Cys) c.480-230C>G (n.480-230C>G) | |
1 | g.229432092G>T | CA345146934 | ACTA1 | c.710C>A (p.Ser237Tyr) c.575C>A (p.Ser192Tyr) c.480-230C>A (n.480-230C>A) | |
1 | g.229432093A>C | CA345146942 | ACTA1 | c.709T>G (p.Ser237Ala) c.574T>G (p.Ser192Ala) c.480-231T>G (n.480-231T>G) | |
1 | g.229432093A>G | CA345146938 | ACTA1 | c.709T>C (p.Ser237Pro) c.574T>C (p.Ser192Pro) c.480-231T>C (n.480-231T>C) | ClinVar |
1 | g.229432093A>T | CA345146940 | ACTA1 | c.709T>A (p.Ser237Thr) c.574T>A (p.Ser192Thr) c.480-231T>A (n.480-231T>A) | |
1 | g.229432094G>A | CA423755115 | ACTA1 | c.708C>T (p.Ser236=) c.573C>T (p.Ser191=) c.480-232C>T (n.480-232C>T) | dbSNP |
1 | g.229432094G>C | CA423755117 | ACTA1 | c.708C>G (p.Ser236=) c.573C>G (p.Ser191=) c.480-232C>G (n.480-232C>G) | dbSNP |
1 | g.229432094G= | CA1226125645 | ACTA1 | c.708C= (p.Ser236=) c.573C= (p.Ser191=) c.480-232C= (n.480-232C=) | |
1 | g.229432094G>T | CA423755118 | ACTA1 | c.708C>A (p.Ser236=) c.573C>A (p.Ser191=) c.480-232C>A (n.480-232C>A) | |
1 | g.229432095G>A | CA345146944 | ACTA1 | c.707C>T (p.Ser236Phe) c.572C>T (p.Ser191Phe) c.480-233C>T (n.480-233C>T) | gnomAD v4 |
1 | g.229432095G>C | CA345146946 | ACTA1 | c.707C>G (p.Ser236Cys) c.572C>G (p.Ser191Cys) c.480-233C>G (n.480-233C>G) | |
1 | g.229432095G>T | CA345146948 | ACTA1 | c.707C>A (p.Ser236Tyr) c.572C>A (p.Ser191Tyr) c.480-233C>A (n.480-233C>A) | COSMIC |
1 | g.229432096A>C | CA345146951 | ACTA1 | c.706T>G (p.Ser236Ala) c.571T>G (p.Ser191Ala) c.480-234T>G (n.480-234T>G) | |
1 | g.229432096A>G | CA345146953 | ACTA1 | c.706T>C (p.Ser236Pro) c.571T>C (p.Ser191Pro) c.480-234T>C (n.480-234T>C) | |
1 | g.229432096A>T | CA345146957 | ACTA1 | c.706T>A (p.Ser236Thr) c.571T>A (p.Ser191Thr) c.480-234T>A (n.480-234T>A) | |
1 | g.229432097G>A | CA423755122 | ACTA1 | c.705C>T (p.Ser235=) c.570C>T (p.Ser190=) c.480-235C>T (n.480-235C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432097G>C | CA423755123 | ACTA1 | c.705C>G (p.Ser235=) c.570C>G (p.Ser190=) c.480-235C>G (n.480-235C>G) | |
1 | g.229432097G= | CA1226125646 | ACTA1 | c.705C= (p.Ser235=) c.570C= (p.Ser190=) c.480-235C= (n.480-235C=) | |
1 | g.229432097G>T | CA423755125 | ACTA1 | c.705C>A (p.Ser235=) c.570C>A (p.Ser190=) c.480-235C>A (n.480-235C>A) | |
1 | g.229432098G>A | CA345146960 | ACTA1 | c.704C>T (p.Ser235Phe) c.569C>T (p.Ser190Phe) c.480-236C>T (n.480-236C>T) | |
1 | g.229432098G>C | CA345146963 | ACTA1 | c.704C>G (p.Ser235Cys) c.569C>G (p.Ser190Cys) c.480-236C>G (n.480-236C>G) | |
1 | g.229432098G>T | CA345146965 | ACTA1 | c.704C>A (p.Ser235Tyr) c.569C>A (p.Ser190Tyr) c.480-236C>A (n.480-236C>A) | ClinVar dbSNP COSMIC |
1 | g.229432099A>C | CA345146969 | ACTA1 | c.703T>G (p.Ser235Ala) c.568T>G (p.Ser190Ala) c.480-237T>G (n.480-237T>G) | |
1 | g.229432099A>G | CA345146971 | ACTA1 | c.703T>C (p.Ser235Pro) c.568T>C (p.Ser190Pro) c.480-237T>C (n.480-237T>C) | |
1 | g.229432099A>T | CA345146973 | ACTA1 | c.703T>A (p.Ser235Thr) c.568T>A (p.Ser190Thr) c.480-237T>A (n.480-237T>A) | |
1 | g.229432100G>A | CA423755133 | ACTA1 | c.702C>T (p.Ser234=) c.567C>T (p.Ser189=) c.480-238C>T (n.480-238C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432100G>C | CA423755134 | ACTA1 | c.702C>G (p.Ser234=) c.567C>G (p.Ser189=) c.480-238C>G (n.480-238C>G) | |
1 | g.229432100G= | CA1226125647 | ACTA1 | c.702C= (p.Ser234=) c.567C= (p.Ser189=) c.480-238C= (n.480-238C=) | |
1 | g.229432100G>T | CA423755135 | ACTA1 | c.702C>A (p.Ser234=) c.567C>A (p.Ser189=) c.480-238C>A (n.480-238C>A) | |
1 | g.229432101G>A | CA345146982 | ACTA1 | c.701C>T (p.Ser234Phe) c.566C>T (p.Ser189Phe) c.480-239C>T (n.480-239C>T) | |
1 | g.229432101G>C | CA345146980 | ACTA1 | c.701C>G (p.Ser234Cys) c.566C>G (p.Ser189Cys) c.480-239C>G (n.480-239C>G) | dbSNP |
1 | g.229432101G= | CA1226125648 | ACTA1 | c.701C= (p.Ser234=) c.566C= (p.Ser189=) c.480-239C= (n.480-239C=) | |
1 | g.229432101G>T | CA345146978 | ACTA1 | c.701C>A (p.Ser234Tyr) c.566C>A (p.Ser189Tyr) c.480-239C>A (n.480-239C>A) |