Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.186122938_186122948del | CA2649560664 | HMCN1 | c.12230-13_12230-3del (n.12230-13_12230-3del) c.11945-13_11945-3del (n.11945-13_11945-3del) c.10253-13_10253-3del (n.10253-13_10253-3del) | gnomAD v4 |
1 | g.186122944_186122945del | CA2840963328 | HMCN1 | c.12230-7_12230-6del (n.12230-7_12230-6del) c.11945-7_11945-6del (n.11945-7_11945-6del) c.10253-7_10253-6del (n.10253-7_10253-6del) | |
1 | g.186122944_186122947dup | CA1213006469 | HMCN1 | c.12230-7_12230-4dup (n.12230-7_12230-4dup) c.11945-7_11945-4dup (n.11945-7_11945-4dup) c.10253-7_10253-4dup (n.10253-7_10253-4dup) | dbSNP |
1 | g.186122944A= | CA1139910969 | HMCN1 | c.12230-7A= (n.12230-7A=) c.11945-7A= (n.11945-7A=) c.10253-7A= (n.10253-7A=) | |
1 | g.186122944A>C | CA1294307 | HMCN1 | c.12230-7A>C (n.12230-7A>C) c.11945-7A>C (n.11945-7A>C) c.10253-7A>C (n.10253-7A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.186122944A>G | CA1213006479 | HMCN1 | c.12230-7A>G (n.12230-7A>G) c.11945-7A>G (n.11945-7A>G) c.10253-7A>G (n.10253-7A>G) | dbSNP gnomAD v4 |
1 | g.186122944A>T | CA1294308 | HMCN1 | c.12230-7A>T (n.12230-7A>T) c.11945-7A>T (n.11945-7A>T) c.10253-7A>T (n.10253-7A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.186122946T>C | CA2839627226 | HMCN1 | c.12230-5T>C (n.12230-5T>C) c.11945-5T>C (n.11945-5T>C) c.10253-5T>C (n.10253-5T>C) | |
1 | g.186122948T>C | CA1294309 | HMCN1 | c.12230-3T>C (n.12230-3T>C) c.11945-3T>C (n.11945-3T>C) c.10253-3T>C (n.10253-3T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.186122948T= | CA1143432405 | HMCN1 | c.12230-3T= (n.12230-3T=) c.11945-3T= (n.11945-3T=) c.10253-3T= (n.10253-3T=) | |
1 | g.186122949A>C | CA343902828 | HMCN1 | c.12230-2A>C (n.12230-2A>C) c.11945-2A>C (n.11945-2A>C) c.10253-2A>C (n.10253-2A>C) | |
1 | g.186122949A>G | CA343902827 | HMCN1 | c.12230-2A>G (n.12230-2A>G) c.11945-2A>G (n.11945-2A>G) c.10253-2A>G (n.10253-2A>G) | |
1 | g.186122949A>T | CA343902826 | HMCN1 | c.12230-2A>T (n.12230-2A>T) c.11945-2A>T (n.11945-2A>T) c.10253-2A>T (n.10253-2A>T) | COSMIC |
1 | g.186122950G>A | CA343902829 | HMCN1 | c.12230-1G>A (n.12230-1G>A) c.11945-1G>A (n.11945-1G>A) c.10253-1G>A (n.10253-1G>A) | gnomAD v4 |
1 | g.186122950G>C | CA343902830 | HMCN1 | c.12230-1G>C (n.12230-1G>C) c.11945-1G>C (n.11945-1G>C) c.10253-1G>C (n.10253-1G>C) | gnomAD v4 |
1 | g.186122950G= | CA1146341988 | HMCN1 | c.12230-1G= (n.12230-1G=) c.11945-1G= (n.11945-1G=) c.10253-1G= (n.10253-1G=) | |
1 | g.186122950G>T | CA1294310 | HMCN1 | c.12230-1G>T (n.12230-1G>T) c.11945-1G>T (n.11945-1G>T) c.10253-1G>T (n.10253-1G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.186122951T>A | CA343902831 | HMCN1 | c.12230T>A (p.Val4077Asp) c.11945T>A (p.Val3982Asp) c.10253T>A (p.Val3418Asp) | |
1 | g.186122951T>C | CA343902832 | HMCN1 | c.12230T>C (p.Val4077Ala) c.11945T>C (p.Val3982Ala) c.10253T>C (p.Val3418Ala) | |
1 | g.186122951T>G | CA343902833 | HMCN1 | c.12230T>G (p.Val4077Gly) c.11945T>G (p.Val3982Gly) c.10253T>G (p.Val3418Gly) | |
1 | g.186122952T>A | CA422514521 | HMCN1 | c.12231T>A (p.Val4077=) c.11946T>A (p.Val3982=) c.10254T>A (p.Val3418=) | |
1 | g.186122952T>C | CA422514522 | HMCN1 | c.12231T>C (p.Val4077=) c.11946T>C (p.Val3982=) c.10254T>C (p.Val3418=) | |
1 | g.186122952T>G | CA422514524 | HMCN1 | c.12231T>G (p.Val4077=) c.11946T>G (p.Val3982=) c.10254T>G (p.Val3418=) | |
1 | g.186122953C>A | CA343902834 | HMCN1 | c.12232C>A (p.Pro4078Thr) c.11947C>A (p.Pro3983Thr) c.10255C>A (p.Pro3419Thr) | dbSNP |
1 | g.186122953C= | CA1213006486 | HMCN1 | c.12232C= (p.Pro4078=) c.11947C= (p.Pro3983=) c.10255C= (p.Pro3419=) | |
1 | g.186122953C>G | CA343902835 | HMCN1 | c.12232C>G (p.Pro4078Ala) c.11947C>G (p.Pro3983Ala) c.10255C>G (p.Pro3419Ala) | |
1 | g.186122953C>T | CA343902836 | HMCN1 | c.12232C>T (p.Pro4078Ser) c.11947C>T (p.Pro3983Ser) c.10255C>T (p.Pro3419Ser) | |
1 | g.186122954C>A | CA33457750 | HMCN1 | c.12233C>A (p.Pro4078His) c.11948C>A (p.Pro3983His) c.10256C>A (p.Pro3419His) | dbSNP |
1 | g.186122954C= | CA1213006490 | HMCN1 | c.12233C= (p.Pro4078=) c.11948C= (p.Pro3983=) c.10256C= (p.Pro3419=) | |
1 | g.186122954C>G | CA343902837 | HMCN1 | c.12233C>G (p.Pro4078Arg) c.11948C>G (p.Pro3983Arg) c.10256C>G (p.Pro3419Arg) | |
1 | g.186122954C>T | CA1294311 | HMCN1 | c.12233C>T (p.Pro4078Leu) c.11948C>T (p.Pro3983Leu) c.10256C>T (p.Pro3419Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.186122955T>A | CA422514527 | HMCN1 | c.12234T>A (p.Pro4078=) c.11949T>A (p.Pro3983=) c.10257T>A (p.Pro3419=) | |
1 | g.186122955T>C | CA422514528 | HMCN1 | c.12234T>C (p.Pro4078=) c.11949T>C (p.Pro3983=) c.10257T>C (p.Pro3419=) | |
1 | g.186122955T>G | CA422514529 | HMCN1 | c.12234T>G (p.Pro4078=) c.11949T>G (p.Pro3983=) c.10257T>G (p.Pro3419=) | |
1 | g.186122956C>A | CA343902838 | HMCN1 | c.12235C>A (p.Pro4079Thr) c.11950C>A (p.Pro3984Thr) c.10258C>A (p.Pro3420Thr) | |
1 | g.186122956C>G | CA343902839 | HMCN1 | c.12235C>G (p.Pro4079Ala) c.11950C>G (p.Pro3984Ala) c.10258C>G (p.Pro3420Ala) | gnomAD v4 |
1 | g.186122956C>T | CA343902840 | HMCN1 | c.12235C>T (p.Pro4079Ser) c.11950C>T (p.Pro3984Ser) c.10258C>T (p.Pro3420Ser) | |
1 | g.186122957C>A | CA343902841 | HMCN1 | c.12236C>A (p.Pro4079Gln) c.11951C>A (p.Pro3984Gln) c.10259C>A (p.Pro3420Gln) | |
1 | g.186122957C= | CA1213006492 | HMCN1 | c.12236C= (p.Pro4079=) c.11951C= (p.Pro3984=) c.10259C= (p.Pro3420=) | |
1 | g.186122957C>G | CA343902843 | HMCN1 | c.12236C>G (p.Pro4079Arg) c.11951C>G (p.Pro3984Arg) c.10259C>G (p.Pro3420Arg) | |
1 | g.186122957C>T | CA343902842 | HMCN1 | c.12236C>T (p.Pro4079Leu) c.11951C>T (p.Pro3984Leu) c.10259C>T (p.Pro3420Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.186122958A= | CA1213006496 | HMCN1 | c.12237A= (p.Pro4079=) c.11952A= (p.Pro3984=) c.10260A= (p.Pro3420=) | |
1 | g.186122958A>C | CA422514531 | HMCN1 | c.12237A>C (p.Pro4079=) c.11952A>C (p.Pro3984=) c.10260A>C (p.Pro3420=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.186122958A>G | CA422514532 | HMCN1 | c.12237A>G (p.Pro4079=) c.11952A>G (p.Pro3984=) c.10260A>G (p.Pro3420=) | |
1 | g.186122958A>T | CA1294312 | HMCN1 | c.12237A>T (p.Pro4079=) c.11952A>T (p.Pro3984=) c.10260A>T (p.Pro3420=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.186122959G>A | CA343902844 | HMCN1 | c.12238G>A (p.Val4080Ile) c.11953G>A (p.Val3985Ile) c.10261G>A (p.Val3421Ile) | gnomAD v4 |
1 | g.186122959G>C | CA343902845 | HMCN1 | c.12238G>C (p.Val4080Leu) c.11953G>C (p.Val3985Leu) c.10261G>C (p.Val3421Leu) | |
1 | g.186122959G>T | CA343902846 | HMCN1 | c.12238G>T (p.Val4080Phe) c.11953G>T (p.Val3985Phe) c.10261G>T (p.Val3421Phe) | gnomAD v4 |
1 | g.186122960T>A | CA343902847 | HMCN1 | c.12239T>A (p.Val4080Asp) c.11954T>A (p.Val3985Asp) c.10262T>A (p.Val3421Asp) | |
1 | g.186122960T>C | CA343902848 | HMCN1 | c.12239T>C (p.Val4080Ala) c.11954T>C (p.Val3985Ala) c.10262T>C (p.Val3421Ala) |