Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.73332122C>A | CA2580089968 | HCN4 | c.1371+9G>T (n.1371+9G>T) c.153+9G>T (n.153+9G>T) | ClinVar gnomAD v4 |
15 | g.73332122C= | CA2187169682 | HCN4 | c.1371+9G= (n.1371+9G=) c.153+9G= (n.153+9G=) | |
15 | g.73332122C>T | CA222867 | HCN4 | c.1371+9G>A (n.1371+9G>A) c.153+9G>A (n.153+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73332123G>A | CA199742 | HCN4 | c.1371+8C>T (n.1371+8C>T) c.153+8C>T (n.153+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73332123G= | CA2187169692 | HCN4 | c.1371+8C= (n.1371+8C=) c.153+8C= (n.153+8C=) | |
15 | g.73332126C>T | CA2629388813 | HCN4 | c.1371+5G>A (n.1371+5G>A) c.153+5G>A (n.153+5G>A) | gnomAD v4 |
15 | g.73332128C>T | CA2629388814 | HCN4 | c.1371+3G>A (n.1371+3G>A) c.153+3G>A (n.153+3G>A) | gnomAD v4 |
15 | g.73332129A>C | CA393094222 | HCN4 | c.1371+2T>G (n.1371+2T>G) c.153+2T>G (n.153+2T>G) | |
15 | g.73332129A>G | CA393094223 | HCN4 | c.1371+2T>C (n.1371+2T>C) c.153+2T>C (n.153+2T>C) | |
15 | g.73332129A>T | CA393094224 | HCN4 | c.1371+2T>A (n.1371+2T>A) c.153+2T>A (n.153+2T>A) | |
15 | g.73332130C>A | CA7649322 | HCN4 | c.1371+1G>T (n.1371+1G>T) c.153+1G>T (n.153+1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.73332130C= | CA2187169698 | HCN4 | c.1371+1G= (n.1371+1G=) c.153+1G= (n.153+1G=) | |
15 | g.73332130C>G | CA393094226 | HCN4 | c.1371+1G>C (n.1371+1G>C) c.153+1G>C (n.153+1G>C) | |
15 | g.73332130C>T | CA393094225 | HCN4 | c.1371+1G>A (n.1371+1G>A) c.153+1G>A (n.153+1G>A) | |
15 | g.73332131C>A | CA491152519 | HCN4 | c.1371G>T (p.Val457=) c.153G>T (p.Val51=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73332131C= | CA2187169702 | HCN4 | c.1371G= (p.Val457=) c.153G= (p.Val51=) | |
15 | g.73332131C>G | CA491152520 | HCN4 | c.1371G>C (p.Val457=) c.153G>C (p.Val51=) | |
15 | g.73332131C>T | CA491152521 | HCN4 | c.1371G>A (p.Val457=) c.153G>A (p.Val51=) | |
15 | g.73332132A>C | CA393094227 | HCN4 | c.1370T>G (p.Val457Gly) c.152T>G (p.Val51Gly) | |
15 | g.73332132A>G | CA393094229 | HCN4 | c.1370T>C (p.Val457Ala) c.152T>C (p.Val51Ala) | |
15 | g.73332132A>T | CA393094228 | HCN4 | c.1370T>A (p.Val457Glu) c.152T>A (p.Val51Glu) | |
15 | g.73332133C>A | CA393094230 | HCN4 | c.1369G>T (p.Val457Leu) c.151G>T (p.Val51Leu) | |
15 | g.73332133C= | CA2187169706 | HCN4 | c.1369G= (p.Val457=) c.151G= (p.Val51=) | |
15 | g.73332133C>G | CA393094232 | HCN4 | c.1369G>C (p.Val457Leu) c.151G>C (p.Val51Leu) | |
15 | g.73332133C>T | CA393094231 | HCN4 | c.1369G>A (p.Val457Met) c.151G>A (p.Val51Met) | dbSNP |
15 | g.73332134C>A | CA393094233 | HCN4 | c.1368G>T (p.Met456Ile) c.150G>T (p.Met50Ile) | |
15 | g.73332134C>G | CA393094235 | HCN4 | c.1368G>C (p.Met456Ile) c.150G>C (p.Met50Ile) | |
15 | g.73332134C>T | CA393094234 | HCN4 | c.1368G>A (p.Met456Ile) c.150G>A (p.Met50Ile) | ClinVar |
15 | g.73332135A>C | CA393094236 | HCN4 | c.1367T>G (p.Met456Arg) c.149T>G (p.Met50Arg) | |
15 | g.73332135A>G | CA393094238 | HCN4 | c.1367T>C (p.Met456Thr) c.149T>C (p.Met50Thr) | |
15 | g.73332135A>T | CA393094237 | HCN4 | c.1367T>A (p.Met456Lys) c.149T>A (p.Met50Lys) | |
15 | g.73332136T>A | CA393094239 | HCN4 | c.1366A>T (p.Met456Leu) c.148A>T (p.Met50Leu) | |
15 | g.73332136T>C | CA393094240 | HCN4 | c.1366A>G (p.Met456Val) c.148A>G (p.Met50Val) | gnomAD v4 |
15 | g.73332136T>G | CA393094241 | HCN4 | c.1366A>C (p.Met456Leu) c.148A>C (p.Met50Leu) | |
15 | g.73332137G>A | CA491152522 | HCN4 | c.1365C>T (p.Asn455=) c.147C>T (p.Asn49=) | gnomAD v4 |
15 | g.73332137G>C | CA393094242 | HCN4 | c.1365C>G (p.Asn455Lys) c.147C>G (p.Asn49Lys) | |
15 | g.73332137G>T | CA393094243 | HCN4 | c.1365C>A (p.Asn455Lys) c.147C>A (p.Asn49Lys) | |
15 | g.73332138T>A | CA393094244 | HCN4 | c.1364A>T (p.Asn455Ile) c.146A>T (p.Asn49Ile) | |
15 | g.73332138T>C | CA393094245 | HCN4 | c.1364A>G (p.Asn455Ser) c.146A>G (p.Asn49Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.73332138T>G | CA393094246 | HCN4 | c.1364A>C (p.Asn455Thr) c.146A>C (p.Asn49Thr) | |
15 | g.73332138T= | CA2187169712 | HCN4 | c.1364A= (p.Asn455=) c.146A= (p.Asn49=) | |
15 | g.73332138_73332140delinsTTG | CA2187169714 | HCN4 | c.1362_1364delinsCAA (p.Asn454=) c.144_146delinsCAA (p.Asn48=) | |
15 | g.73332139T>A | CA393094247 | HCN4 | c.1363A>T (p.Asn455Tyr) c.145A>T (p.Asn49Tyr) | |
15 | g.73332139T>C | CA393094248 | HCN4 | c.1363A>G (p.Asn455Asp) c.145A>G (p.Asn49Asp) | dbSNP |
15 | g.73332139T>G | CA393094249 | HCN4 | c.1363A>C (p.Asn455His) c.145A>C (p.Asn49His) | |
15 | g.73332139T= | CA2187169718 | HCN4 | c.1363A= (p.Asn455=) c.145A= (p.Asn49=) | |
15 | g.73332140_73332141del | CA971407310 | HCN4 | c.1362_1363del (p.Asn454LysfsTer?) c.144_145del (p.Asn48LysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.73332140G>A | CA491152523 | HCN4 | c.1362C>T (p.Asn454=) c.144C>T (p.Asn48=) | |
15 | g.73332140G>C | CA393094250 | HCN4 | c.1362C>G (p.Asn454Lys) c.144C>G (p.Asn48Lys) | |
15 | g.73332140G>T | CA393094251 | HCN4 | c.1362C>A (p.Asn454Lys) c.144C>A (p.Asn48Lys) |