UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.73332064_73332071dup | CA2575783962 | HCN4 | c.1371+62_1371+69dup (n.1371+62_1371+69dup) c.153+62_153+69dup (n.153+62_153+69dup) | |
| 15 | g.73332070C>T | CA2575783965 | HCN4 | c.1371+61G>A (n.1371+61G>A) c.153+61G>A (n.153+61G>A) | |
| 15 | g.73332071A= | CA2187169622 | HCN4 | c.1371+60T= (n.1371+60T=) c.153+60T= (n.153+60T=) | |
| 15 | g.73332071A>C | CA2187169621 | HCN4 | c.1371+60T>G (n.1371+60T>G) c.153+60T>G (n.153+60T>G) | dbSNP |
| 15 | g.73332072C>T | CA2629388795 | HCN4 | c.1371+59G>A (n.1371+59G>A) c.153+59G>A (n.153+59G>A) | gnomAD v4 |
| 15 | g.73332074del | CA2629388794 | HCN4 | c.1371+59del (n.1371+59del) c.153+59del (n.153+59del) | gnomAD v4 |
| 15 | g.73332075T>G | CA971407264 | HCN4 | c.1371+56A>C (n.1371+56A>C) c.153+56A>C (n.153+56A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73332075T= | CA2187169623 | HCN4 | c.1371+56A= (n.1371+56A=) c.153+56A= (n.153+56A=) | |
| 15 | g.73332076A= | CA2187169625 | HCN4 | c.1371+55T= (n.1371+55T=) c.153+55T= (n.153+55T=) | |
| 15 | g.73332076A>C | CA2187169626 | HCN4 | c.1371+55T>G (n.1371+55T>G) c.153+55T>G (n.153+55T>G) | dbSNP |
| 15 | g.73332076A>G | CA272673833 | HCN4 | c.1371+55T>C (n.1371+55T>C) c.153+55T>C (n.153+55T>C) | dbSNP |
| 15 | g.73332076A>T | CA619410714 | HCN4 | c.1371+55T>A (n.1371+55T>A) c.153+55T>A (n.153+55T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73332077C= | CA2187169629 | HCN4 | c.1371+54G= (n.1371+54G=) c.153+54G= (n.153+54G=) | |
| 15 | g.73332077C>T | CA914026858 | HCN4 | c.1371+54G>A (n.1371+54G>A) c.153+54G>A (n.153+54G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73332078C= | CA2187169631 | HCN4 | c.1371+53G= (n.1371+53G=) c.153+53G= (n.153+53G=) | |
| 15 | g.73332078C>T | CA971407275 | HCN4 | c.1371+53G>A (n.1371+53G>A) c.153+53G>A (n.153+53G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73332080C= | CA2187169633 | HCN4 | c.1371+51G= (n.1371+51G=) c.153+51G= (n.153+51G=) | |
| 15 | g.73332080C>G | CA2187169634 | HCN4 | c.1371+51G>C (n.1371+51G>C) c.153+51G>C (n.153+51G>C) | dbSNP |
| 15 | g.73332081T>C | CA2629388796 | HCN4 | c.1371+50A>G (n.1371+50A>G) c.153+50A>G (n.153+50A>G) | gnomAD v4 |
| 15 | g.73332082G>A | CA619410715 | HCN4 | c.1371+49C>T (n.1371+49C>T) c.153+49C>T (n.153+49C>T) | dbSNP gnomAD v2 |
| 15 | g.73332082G= | CA2187169637 | HCN4 | c.1371+49C= (n.1371+49C=) c.153+49C= (n.153+49C=) | |
| 15 | g.73332082G>T | CA2629388798 | HCN4 | c.1371+49C>A (n.1371+49C>A) c.153+49C>A (n.153+49C>A) | gnomAD v4 |
| 15 | g.73332083del | CA2629388797 | HCN4 | c.1371+49del (n.1371+49del) c.153+49del (n.153+49del) | gnomAD v4 |
| 15 | g.73332083G>A | CA7649313 | HCN4 | c.1371+48C>T (n.1371+48C>T) c.153+48C>T (n.153+48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73332083G= | CA2187169638 | HCN4 | c.1371+48C= (n.1371+48C=) c.153+48C= (n.153+48C=) | |
| 15 | g.73332085G>T | CA2629388799 | HCN4 | c.1371+46C>A (n.1371+46C>A) c.153+46C>A (n.153+46C>A) | gnomAD v4 |
| 15 | g.73332087G>A | CA2629388801 | HCN4 | c.1371+44C>T (n.1371+44C>T) c.153+44C>T (n.153+44C>T) | gnomAD v4 |
| 15 | g.73332091_73332101del | CA2629388800 | HCN4 | c.1371+34_1371+44del (n.1371+34_1371+44del) c.153+34_153+44del (n.153+34_153+44del) | gnomAD v4 |
| 15 | g.73332088C= | CA2187169640 | HCN4 | c.1371+43G= (n.1371+43G=) c.153+43G= (n.153+43G=) | |
| 15 | g.73332088C>T | CA715559016 | HCN4 | c.1371+43G>A (n.1371+43G>A) c.153+43G>A (n.153+43G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73332090dup | CA2804727157 | HCN4 | c.1371+43dup (n.1371+43dup) c.153+43dup (n.153+43dup) | |
| 15 | g.73332089C= | CA2187169642 | HCN4 | c.1371+42G= (n.1371+42G=) c.153+42G= (n.153+42G=) | |
| 15 | g.73332089C>T | CA715559021 | HCN4 | c.1371+42G>A (n.1371+42G>A) c.153+42G>A (n.153+42G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73332090C= | CA2187169645 | HCN4 | c.1371+41G= (n.1371+41G=) c.153+41G= (n.153+41G=) | |
| 15 | g.73332090C>T | CA2187169644 | HCN4 | c.1371+41G>A (n.1371+41G>A) c.153+41G>A (n.153+41G>A) | dbSNP gnomAD v4 |
| 15 | g.73332091del | CA2575783966 | HCN4 | c.1371+40del (n.1371+40del) c.153+40del (n.153+40del) | |
| 15 | g.73332091G>A | CA7649314 | HCN4 | c.1371+40C>T (n.1371+40C>T) c.153+40C>T (n.153+40C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73332091G>C | CA2629388802 | HCN4 | c.1371+40C>G (n.1371+40C>G) c.153+40C>G (n.153+40C>G) | gnomAD v4 |
| 15 | g.73332091G= | CA2187169647 | HCN4 | c.1371+40C= (n.1371+40C=) c.153+40C= (n.153+40C=) | |
| 15 | g.73332091G>T | CA2629388803 | HCN4 | c.1371+40C>A (n.1371+40C>A) c.153+40C>A (n.153+40C>A) | gnomAD v4 |
| 15 | g.73332095A>G | CA2575783967 | HCN4 | c.1371+36T>C (n.1371+36T>C) c.153+36T>C (n.153+36T>C) | |
| 15 | g.73332096T>C | CA7649315 | HCN4 | c.1371+35A>G (n.1371+35A>G) c.153+35A>G (n.153+35A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73332096T= | CA2187169648 | HCN4 | c.1371+35A= (n.1371+35A=) c.153+35A= (n.153+35A=) | |
| 15 | g.73332097G>C | CA2187169651 | HCN4 | c.1371+34C>G (n.1371+34C>G) c.153+34C>G (n.153+34C>G) | dbSNP |
| 15 | g.73332097G= | CA2187169650 | HCN4 | c.1371+34C= (n.1371+34C=) c.153+34C= (n.153+34C=) | |
| 15 | g.73332097G>T | CA2629388804 | HCN4 | c.1371+34C>A (n.1371+34C>A) c.153+34C>A (n.153+34C>A) | gnomAD v4 |
| 15 | g.73332098G>A | CA619410716 | HCN4 | c.1371+33C>T (n.1371+33C>T) c.153+33C>T (n.153+33C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73332098G= | CA2187169653 | HCN4 | c.1371+33C= (n.1371+33C=) c.153+33C= (n.153+33C=) | |
| 15 | g.73332098G>T | CA2629388805 | HCN4 | c.1371+33C>A (n.1371+33C>A) c.153+33C>A (n.153+33C>A) | gnomAD v4 |
| 15 | g.73332099C>T | CA2629388806 | HCN4 | c.1371+32G>A (n.1371+32G>A) c.153+32G>A (n.153+32G>A) | gnomAD v4 |
| 15 | g.73332100C>T | CA2629388807 | HCN4 | c.1371+31G>A (n.1371+31G>A) c.153+31G>A (n.153+31G>A) | gnomAD v4 |
| 15 | g.73332101C>A | CA2509364083 | HCN4 | c.1371+30G>T (n.1371+30G>T) c.153+30G>T (n.153+30G>T) | |
| 15 | g.73332102A= | CA2187169655 | HCN4 | c.1371+29T= (n.1371+29T=) c.153+29T= (n.153+29T=) | |
| 15 | g.73332102A>G | CA619410717 | HCN4 | c.1371+29T>C (n.1371+29T>C) c.153+29T>C (n.153+29T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73332107G>A | CA2629388808 | HCN4 | c.1371+24C>T (n.1371+24C>T) c.153+24C>T (n.153+24C>T) | gnomAD v4 |
| 15 | g.73332107G>C | CA2629388809 | HCN4 | c.1371+24C>G (n.1371+24C>G) c.153+24C>G (n.153+24C>G) | gnomAD v4 |
| 15 | g.73332107G= | CA2187169657 | HCN4 | c.1371+24C= (n.1371+24C=) c.153+24C= (n.153+24C=) | |
| 15 | g.73332107G>T | CA2187169658 | HCN4 | c.1371+24C>A (n.1371+24C>A) c.153+24C>A (n.153+24C>A) | dbSNP |
| 15 | g.73332109G>A | CA2629388810 | HCN4 | c.1371+22C>T (n.1371+22C>T) c.153+22C>T (n.153+22C>T) | gnomAD v4 |
| 15 | g.73332109G>C | CA2731234482 | HCN4 | c.1371+22C>G (n.1371+22C>G) c.153+22C>G (n.153+22C>G) | dbSNP |
| 15 | g.73332110G>A | CA7649316 | HCN4 | c.1371+21C>T (n.1371+21C>T) c.153+21C>T (n.153+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73332110G= | CA2187169660 | HCN4 | c.1371+21C= (n.1371+21C=) c.153+21C= (n.153+21C=) | |
| 15 | g.73332112C>A | CA2804727158 | HCN4 | c.1371+19G>T (n.1371+19G>T) c.153+19G>T (n.153+19G>T) | |
| 15 | g.73332112C= | CA2187169663 | HCN4 | c.1371+19G= (n.1371+19G=) c.153+19G= (n.153+19G=) | |
| 15 | g.73332112C>T | CA7649317 | HCN4 | c.1371+19G>A (n.1371+19G>A) c.153+19G>A (n.153+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73332113C= | CA2187169666 | HCN4 | c.1371+18G= (n.1371+18G=) c.153+18G= (n.153+18G=) | |
| 15 | g.73332113C>G | CA971407285 | HCN4 | c.1371+18G>C (n.1371+18G>C) c.153+18G>C (n.153+18G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73332113C>T | CA7649318 | HCN4 | c.1371+18G>A (n.1371+18G>A) c.153+18G>A (n.153+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73332114G>A | CA7649319 | HCN4 | c.1371+17C>T (n.1371+17C>T) c.153+17C>T (n.153+17C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73332114G= | CA2187169668 | HCN4 | c.1371+17C= (n.1371+17C=) c.153+17C= (n.153+17C=) | |
| 15 | g.73332114G>T | CA2629388811 | HCN4 | c.1371+17C>A (n.1371+17C>A) c.153+17C>A (n.153+17C>A) | gnomAD v4 |
| 15 | g.73332115G>A | CA7649320 | HCN4 | c.1371+16C>T (n.1371+16C>T) c.153+16C>T (n.153+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73332115G>C | CA2629388812 | HCN4 | c.1371+16C>G (n.1371+16C>G) c.153+16C>G (n.153+16C>G) | gnomAD v4 |
| 15 | g.73332115G= | CA2187169673 | HCN4 | c.1371+16C= (n.1371+16C=) c.153+16C= (n.153+16C=) | |
| 15 | g.73332116G= | CA2187169677 | HCN4 | c.1371+15C= (n.1371+15C=) c.153+15C= (n.153+15C=) | |
| 15 | g.73332116G>T | CA971407287 | HCN4 | c.1371+15C>A (n.1371+15C>A) c.153+15C>A (n.153+15C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73332117C>T | CA2575783968 | HCN4 | c.1371+14G>A (n.1371+14G>A) c.153+14G>A (n.153+14G>A) | |
| 15 | g.73332119G>A | CA7649321 | HCN4 | c.1371+12C>T (n.1371+12C>T) c.153+12C>T (n.153+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73332119G= | CA2187169679 | HCN4 | c.1371+12C= (n.1371+12C=) c.153+12C= (n.153+12C=) | |
| 15 | g.73332121G>A | CA2804727159 | HCN4 | c.1371+10C>T (n.1371+10C>T) c.153+10C>T (n.153+10C>T) | |
| 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) | |
| 15 | g.73332141T>A | CA393094252 | HCN4 | c.1361A>T (p.Asn454Ile) c.143A>T (p.Asn48Ile) | |
| 15 | g.73332141T>C | CA393094253 | HCN4 | c.1361A>G (p.Asn454Ser) c.143A>G (p.Asn48Ser) | |
| 15 | g.73332141T>G | CA393094254 | HCN4 | c.1361A>C (p.Asn454Thr) c.143A>C (p.Asn48Thr) | |
| 15 | g.73332142T>A | CA393094255 | HCN4 | c.1360A>T (p.Asn454Tyr) c.142A>T (p.Asn48Tyr) | |
| 15 | g.73332142T>C | CA393094256 | HCN4 | c.1360A>G (p.Asn454Asp) c.142A>G (p.Asn48Asp) | dbSNP |
| 15 | g.73332142T>G | CA393094257 | HCN4 | c.1360A>C (p.Asn454His) c.142A>C (p.Asn48His) | |
| 15 | g.73332142T= | CA2187169722 | HCN4 | c.1360A= (p.Asn454=) c.142A= (p.Asn48=) | |
| 15 | g.73332143G>A | CA491152524 | HCN4 | c.1359C>T (p.Ile453=) c.141C>T (p.Ile47=) | |
| 15 | g.73332143G>C | CA393094258 | HCN4 | c.1359C>G (p.Ile453Met) c.141C>G (p.Ile47Met) | |
| 15 | g.73332143G>T | CA491152525 | HCN4 | c.1359C>A (p.Ile453=) c.141C>A (p.Ile47=) | |
| 15 | g.73332144A>C | CA393094259 | HCN4 | c.1358T>G (p.Ile453Ser) c.140T>G (p.Ile47Ser) | |
| 15 | g.73332144A>G | CA393094260 | HCN4 | c.1358T>C (p.Ile453Thr) c.140T>C (p.Ile47Thr) | |
| 15 | g.73332144A>T | CA393094261 | HCN4 | c.1358T>A (p.Ile453Asn) c.140T>A (p.Ile47Asn) | |
| 15 | g.73332145T>A | CA393094263 | HCN4 | c.1357A>T (p.Ile453Phe) c.139A>T (p.Ile47Phe) | |
| 15 | g.73332145T>C | CA393094264 | HCN4 | c.1357A>G (p.Ile453Val) c.139A>G (p.Ile47Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.73332145T>G | CA393094262 | HCN4 | c.1357A>C (p.Ile453Leu) c.139A>C (p.Ile47Leu) | |
| 15 | g.73332145T= | CA2187169726 | HCN4 | c.1357A= (p.Ile453=) c.139A= (p.Ile47=) | |
| 15 | g.73332146G>A | CA7649323 | HCN4 | c.1356C>T (p.Ser452=) c.138C>T (p.Ser46=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73332146G>C | CA491152526 | HCN4 | c.1356C>G (p.Ser452=) c.138C>G (p.Ser46=) | |
| 15 | g.73332146G= | CA2187169730 | HCN4 | c.1356C= (p.Ser452=) c.138C= (p.Ser46=) | |
| 15 | g.73332146G>T | CA491152527 | HCN4 | c.1356C>A (p.Ser452=) c.138C>A (p.Ser46=) | |
| 15 | g.73332147G>A | CA393094265 | HCN4 | c.1355C>T (p.Ser452Phe) c.137C>T (p.Ser46Phe) | gnomAD v4 |
| 15 | g.73332147G>C | CA393094266 | HCN4 | c.1355C>G (p.Ser452Cys) c.137C>G (p.Ser46Cys) | |
| 15 | g.73332147G>T | CA393094267 | HCN4 | c.1355C>A (p.Ser452Tyr) c.137C>A (p.Ser46Tyr) | |
| 15 | g.73332148A>C | CA393094268 | HCN4 | c.1354T>G (p.Ser452Ala) c.136T>G (p.Ser46Ala) | |
| 15 | g.73332148A>G | CA393094269 | HCN4 | c.1354T>C (p.Ser452Pro) c.136T>C (p.Ser46Pro) | |
| 15 | g.73332148A>T | CA393094270 | HCN4 | c.1354T>A (p.Ser452Thr) c.136T>A (p.Ser46Thr) | gnomAD v4 |
| 15 | g.73332149C>A | CA7649324 | HCN4 | c.1353G>T (p.Val451=) c.135G>T (p.Val45=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73332149C= | CA2187169735 | HCN4 | c.1353G= (p.Val451=) c.135G= (p.Val45=) | |
| 15 | g.73332149C>G | CA491152528 | HCN4 | c.1353G>C (p.Val451=) c.135G>C (p.Val45=) | |
| 15 | g.73332149C>T | CA491152529 | HCN4 | c.1353G>A (p.Val451=) c.135G>A (p.Val45=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73332150A>C | CA393094271 | HCN4 | c.1352T>G (p.Val451Gly) c.134T>G (p.Val45Gly) | |
| 15 | g.73332150A>G | CA393094272 | HCN4 | c.1352T>C (p.Val451Ala) c.134T>C (p.Val45Ala) | |
| 15 | g.73332150A>T | CA393094273 | HCN4 | c.1352T>A (p.Val451Glu) c.134T>A (p.Val45Glu) | |
| 15 | g.73332151C>A | CA393094275 | HCN4 | c.1351G>T (p.Val451Leu) c.133G>T (p.Val45Leu) | |
| 15 | g.73332151C>G | CA393094276 | HCN4 | c.1351G>C (p.Val451Leu) c.133G>C (p.Val45Leu) | |
| 15 | g.73332151C>T | CA393094274 | HCN4 | c.1351G>A (p.Val451Met) c.133G>A (p.Val45Met) | gnomAD v4 |
| 15 | g.73332152C>A | CA393094277 | HCN4 | c.1350G>T (p.Trp450Cys) c.132G>T (p.Trp44Cys) | |
| 15 | g.73332152C>G | CA393094278 | HCN4 | c.1350G>C (p.Trp450Cys) c.132G>C (p.Trp44Cys) | |
| 15 | g.73332152C>T | CA393094279 | HCN4 | c.1350G>A (p.Trp450Ter) c.132G>A (p.Trp44Ter) | |
| 15 | g.73332153C>A | CA393094280 | HCN4 | c.1349G>T (p.Trp450Leu) c.131G>T (p.Trp44Leu) | |
| 15 | g.73332153C= | CA2187169741 | HCN4 | c.1349G= (p.Trp450=) c.131G= (p.Trp44=) | |
| 15 | g.73332153C>G | CA393094281 | HCN4 | c.1349G>C (p.Trp450Ser) c.131G>C (p.Trp44Ser) | ClinVar dbSNP |
| 15 | g.73332153C>T | CA393094282 | HCN4 | c.1349G>A (p.Trp450Ter) c.131G>A (p.Trp44Ter) | |
| 15 | g.73332154A>C | CA393094283 | HCN4 | c.1348T>G (p.Trp450Gly) c.130T>G (p.Trp44Gly) | |
| 15 | g.73332154A>G | CA393094285 | HCN4 | c.1348T>C (p.Trp450Arg) c.130T>C (p.Trp44Arg) | |
| 15 | g.73332154A>T | CA393094284 | HCN4 | c.1348T>A (p.Trp450Arg) c.130T>A (p.Trp44Arg) | |
| 15 | g.73332155G>A | CA491152530 | HCN4 | c.1347C>T (p.Cys449=) c.129C>T (p.Cys43=) | |
| 15 | g.73332155G>C | CA393094286 | HCN4 | c.1347C>G (p.Cys449Trp) c.129C>G (p.Cys43Trp) | |
| 15 | g.73332155G>T | CA393094287 | HCN4 | c.1347C>A (p.Cys449Ter) c.129C>A (p.Cys43Ter) | |
| 15 | g.73332156C>A | CA393094288 | HCN4 | c.1346G>T (p.Cys449Phe) c.128G>T (p.Cys43Phe) | |
| 15 | g.73332156C= | CA2187169748 | HCN4 | c.1346G= (p.Cys449=) c.128G= (p.Cys43=) | |
| 15 | g.73332156C>G | CA301962 | HCN4 | c.1346G>C (p.Cys449Ser) c.128G>C (p.Cys43Ser) | ClinVar dbSNP |
| 15 | g.73332156C>T | CA393094289 | HCN4 | c.1346G>A (p.Cys449Tyr) c.128G>A (p.Cys43Tyr) | |
| 15 | g.73332157A>C | CA393094292 | HCN4 | c.1345T>G (p.Cys449Gly) c.127T>G (p.Cys43Gly) | |
| 15 | g.73332157A>G | CA393094291 | HCN4 | c.1345T>C (p.Cys449Arg) c.127T>C (p.Cys43Arg) | |
| 15 | g.73332157A>T | CA393094290 | HCN4 | c.1345T>A (p.Cys449Ser) c.127T>A (p.Cys43Ser) | |
| 15 | g.73332158G>A | CA491152531 | HCN4 | c.1344C>T (p.Asp448=) c.126C>T (p.Asp42=) | gnomAD v4 |
| 15 | g.73332158G>C | CA393094294 | HCN4 | c.1344C>G (p.Asp448Glu) c.126C>G (p.Asp42Glu) | |
| 15 | g.73332158G>T | CA393094293 | HCN4 | c.1344C>A (p.Asp448Glu) c.126C>A (p.Asp42Glu) | |
| 15 | g.73332159T>A | CA393094297 | HCN4 | c.1343A>T (p.Asp448Val) c.125A>T (p.Asp42Val) | |
| 15 | g.73332159T>C | CA393094295 | HCN4 | c.1343A>G (p.Asp448Gly) c.125A>G (p.Asp42Gly) | gnomAD v4 |
| 15 | g.73332159T>G | CA393094296 | HCN4 | c.1343A>C (p.Asp448Ala) c.125A>C (p.Asp42Ala) | |
| 15 | g.73332160C>A | CA393094298 | HCN4 | c.1342G>T (p.Asp448Tyr) c.124G>T (p.Asp42Tyr) | |
| 15 | g.73332160C= | CA2187169753 | HCN4 | c.1342G= (p.Asp448=) c.124G= (p.Asp42=) | |
| 15 | g.73332160C>G | CA393094299 | HCN4 | c.1342G>C (p.Asp448His) c.124G>C (p.Asp42His) | |
| 15 | g.73332160C>T | CA393094300 | HCN4 | c.1342G>A (p.Asp448Asn) c.124G>A (p.Asp42Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.73332161G>A | CA491152532 | HCN4 | c.1341C>T (p.Asp447=) c.123C>T (p.Asp41=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.73332161G>C | CA393094301 | HCN4 | c.1341C>G (p.Asp447Glu) c.123C>G (p.Asp41Glu) | |
| 15 | g.73332161G= | CA2187169756 | HCN4 | c.1341C= (p.Asp447=) c.123C= (p.Asp41=) | |
| 15 | g.73332161G>T | CA393094302 | HCN4 | c.1341C>A (p.Asp447Glu) c.123C>A (p.Asp41Glu) | |
| 15 | g.73332162T>A | CA393094303 | HCN4 | c.1340A>T (p.Asp447Val) c.122A>T (p.Asp41Val) | |
| 15 | g.73332162T>C | CA393094305 | HCN4 | c.1340A>G (p.Asp447Gly) c.122A>G (p.Asp41Gly) | |
| 15 | g.73332162T>G | CA393094304 | HCN4 | c.1340A>C (p.Asp447Ala) c.122A>C (p.Asp41Ala) | |
| 15 | g.73332163C>A | CA393094306 | HCN4 | c.1339G>T (p.Asp447Tyr) c.121G>T (p.Asp41Tyr) | |
| 15 | g.73332163C>G | CA393094307 | HCN4 | c.1339G>C (p.Asp447His) c.121G>C (p.Asp41His) | |
| 15 | g.73332163C>T | CA393094308 | HCN4 | c.1339G>A (p.Asp447Asn) c.121G>A (p.Asp41Asn) | |
| 15 | g.73332164A= | CA2187169761 | HCN4 | c.1338T= (p.Pro446=) c.120T= (p.Pro40=) | |
| 15 | g.73332164A>C | CA7649325 | HCN4 | c.1338T>G (p.Pro446=) c.120T>G (p.Pro40=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73332164A>G | CA491152534 | HCN4 | c.1338T>C (p.Pro446=) c.120T>C (p.Pro40=) | |
| 15 | g.73332164A>T | CA491152533 | HCN4 | c.1338T>A (p.Pro446=) c.120T>A (p.Pro40=) | |
| 15 | g.73332165G>A | CA393094309 | HCN4 | c.1337C>T (p.Pro446Leu) c.119C>T (p.Pro40Leu) | gnomAD v4 |
| 15 | g.73332165G>C | CA393094311 | HCN4 | c.1337C>G (p.Pro446Arg) c.119C>G (p.Pro40Arg) | |
| 15 | g.73332165G>T | CA393094310 | HCN4 | c.1337C>A (p.Pro446His) c.119C>A (p.Pro40His) | |
| 15 | g.73332166G>A | CA393094312 | HCN4 | c.1336C>T (p.Pro446Ser) c.118C>T (p.Pro40Ser) | |
| 15 | g.73332166G>C | CA393094313 | HCN4 | c.1336C>G (p.Pro446Ala) c.118C>G (p.Pro40Ala) | |
| 15 | g.73332166G>T | CA393094314 | HCN4 | c.1336C>A (p.Pro446Thr) c.118C>A (p.Pro40Thr) | |
| 15 | g.73332167G>A | CA491152535 | HCN4 | c.1335C>T (p.Phe445=) c.117C>T (p.Phe39=) | |
| 15 | g.73332167G>C | CA393094315 | HCN4 | c.1335C>G (p.Phe445Leu) c.117C>G (p.Phe39Leu) | gnomAD v4 |
| 15 | g.73332167G>T | CA393094316 | HCN4 | c.1335C>A (p.Phe445Leu) c.117C>A (p.Phe39Leu) | gnomAD v4 |
| 15 | g.73332168A>C | CA393094317 | HCN4 | c.1334T>G (p.Phe445Cys) c.116T>G (p.Phe39Cys) | |
| 15 | g.73332168A>G | CA393094318 | HCN4 | c.1334T>C (p.Phe445Ser) c.116T>C (p.Phe39Ser) | |
| 15 | g.73332168A>T | CA393094319 | HCN4 | c.1334T>A (p.Phe445Tyr) c.116T>A (p.Phe39Tyr) | |
| 15 | g.73332169A>C | CA393094320 | HCN4 | c.1333T>G (p.Phe445Val) c.115T>G (p.Phe39Val) | |
| 15 | g.73332169A>G | CA393094321 | HCN4 | c.1333T>C (p.Phe445Leu) c.115T>C (p.Phe39Leu) | |
| 15 | g.73332169A>T | CA393094322 | HCN4 | c.1333T>A (p.Phe445Ile) c.115T>A (p.Phe39Ile) |