OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47341257_47344691del | CA913203384 | MYBPC3 | c.1091-1066_1791-12del c.1073-1066_1773-12del | |
| 11 | g.47342746_47342830del | CA2791323395 | MYBPC3 | c.1457+2_1458del c.1439+2_1440del | |
| 11 | g.47342785G>A | CA2613403601 | MYBPC3 | c.1458-41C>T (n.1458-41C>T) c.1440-41C>T (n.1440-41C>T) | gnomAD v4 |
| 11 | g.47342785G>C | CA078117 | MYBPC3 | c.1458-41C>G (n.1458-41C>G) c.1440-41C>G (n.1440-41C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342785G= | CA1969336122 | MYBPC3 | c.1458-41C= (n.1458-41C=) c.1440-41C= (n.1440-41C=) | |
| 11 | g.47342786_47342792delinsGGCAGAT | CA1969336123 | MYBPC3 | c.1457+38_1458-42delinsATCTGCC (n.1457+38_1458-42delinsATCTGCC) c.1439+38_1440-42delinsATCTGCC (n.1439+38_1440-42delinsATCTGCC) | |
| 11 | g.47342787G>A | CA937671624 | MYBPC3 | c.1458-43C>T (n.1458-43C>T) c.1440-43C>T (n.1440-43C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342787G= | CA1969336124 | MYBPC3 | c.1458-43C= (n.1458-43C=) c.1440-43C= (n.1440-43C=) | |
| 11 | g.47342789_47342794del | CA937671623 | MYBPC3 | c.1457+38_1458-43del (n.1457+38_1458-43del) c.1439+38_1440-43del (n.1439+38_1440-43del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342788C>A | CA1969336126 | MYBPC3 | c.1457+42G>T (n.1457+42G>T) c.1439+42G>T (n.1439+42G>T) | dbSNP gnomAD v4 |
| 11 | g.47342788C= | CA1969336125 | MYBPC3 | c.1457+42G= (n.1457+42G=) c.1439+42G= (n.1439+42G=) | |
| 11 | g.47342788C>T | CA599374468 | MYBPC3 | c.1457+42G>A (n.1457+42G>A) c.1439+42G>A (n.1439+42G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342791_47342816delinsATGCCCCCAACACCCATGCCCCGTGC | CA1969336128 | MYBPC3 | c.1457+14_1457+39delinsGCACGGGGCATGGGTGTTGGGGGCAT (n.1457+14_1457+39delinsGCACGGGGCATGGGTGTTGGGGGCAT) c.1439+14_1439+39delinsGCACGGGGCATGGGTGTTGGGGGCAT (n.1439+14_1439+39delinsGCACGGGGCATGGGTGTTGGGGGCAT) | |
| 11 | g.47342793_47342817del | CA1969336129 | MYBPC3 | c.1457+14_1457+38del (n.1457+14_1457+38del) c.1439+14_1439+38del (n.1439+14_1439+38del) | dbSNP |
| 11 | g.47342793G>A | CA078102 | MYBPC3 | c.1457+37C>T (n.1457+37C>T) c.1439+37C>T (n.1439+37C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342793G= | CA1969336130 | MYBPC3 | c.1457+37C= (n.1457+37C=) c.1439+37C= (n.1439+37C=) | |
| 11 | g.47342794C>A | CA078100 | MYBPC3 | c.1457+36G>T (n.1457+36G>T) c.1439+36G>T (n.1439+36G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342794C= | CA1969336131 | MYBPC3 | c.1457+36G= (n.1457+36G=) c.1439+36G= (n.1439+36G=) | |
| 11 | g.47342794C>T | CA599374469 | MYBPC3 | c.1457+36G>A (n.1457+36G>A) c.1439+36G>A (n.1439+36G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342796C= | CA1969336132 | MYBPC3 | c.1457+34G= (n.1457+34G=) c.1439+34G= (n.1439+34G=) | |
| 11 | g.47342796C>T | CA078098 | MYBPC3 | c.1457+34G>A (n.1457+34G>A) c.1439+34G>A (n.1439+34G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342797C>A | CA045105 | MYBPC3 | c.1457+33G>T (n.1457+33G>T) c.1439+33G>T (n.1439+33G>T) | |
| 11 | g.47342798C= | CA1969336133 | MYBPC3 | c.1457+32G= (n.1457+32G=) c.1439+32G= (n.1439+32G=) | |
| 11 | g.47342798C>T | CA599374470 | MYBPC3 | c.1457+32G>A (n.1457+32G>A) c.1439+32G>A (n.1439+32G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342800A>G | CA2613403624 | MYBPC3 | c.1457+30T>C (n.1457+30T>C) c.1439+30T>C (n.1439+30T>C) | gnomAD v4 |
| 11 | g.47342801C= | CA1969336135 | MYBPC3 | c.1457+29G= (n.1457+29G=) c.1439+29G= (n.1439+29G=) | |
| 11 | g.47342801C>T | CA599374471 | MYBPC3 | c.1457+29G>A (n.1457+29G>A) c.1439+29G>A (n.1439+29G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342803C= | CA1969336136 | MYBPC3 | c.1457+27G= (n.1457+27G=) c.1439+27G= (n.1439+27G=) | |
| 11 | g.47342803C>G | CA2613403629 | MYBPC3 | c.1457+27G>C (n.1457+27G>C) c.1439+27G>C (n.1439+27G>C) | gnomAD v4 |
| 11 | g.47342803C>T | CA1969336137 | MYBPC3 | c.1457+27G>A (n.1457+27G>A) c.1439+27G>A (n.1439+27G>A) | dbSNP gnomAD v4 |
| 11 | g.47342804C= | CA1969336139 | MYBPC3 | c.1457+26G= (n.1457+26G=) c.1439+26G= (n.1439+26G=) | |
| 11 | g.47342804C>T | CA078096 | MYBPC3 | c.1457+26G>A (n.1457+26G>A) c.1439+26G>A (n.1439+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342804_47342824delinsCCATGCCCCGTGCTTCTGGAA | CA1969336138 | MYBPC3 | c.1457+6_1457+26delinsTTCCAGAAGCACGGGGCATGG (n.1457+6_1457+26delinsTTCCAGAAGCACGGGGCATGG) c.1439+6_1439+26delinsTTCCAGAAGCACGGGGCATGG (n.1439+6_1439+26delinsTTCCAGAAGCACGGGGCATGG) | |
| 11 | g.47342805C= | CA1969336142 | MYBPC3 | c.1457+25G= (n.1457+25G=) c.1439+25G= (n.1439+25G=) | |
| 11 | g.47342805C>T | CA599374472 | MYBPC3 | c.1457+25G>A (n.1457+25G>A) c.1439+25G>A (n.1439+25G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342806_47342825del | CA176845 | MYBPC3 | c.1457+6_1457+25del (n.1457+6_1457+25del) c.1439+6_1439+25del (n.1439+6_1439+25del) | ClinVar dbSNP |
| 11 | g.47342805_47342830delinsG | CA2697548582 | MYBPC3 | c.1457_1457+25delinsC c.1439_1439+25delinsC | ClinVar |
| 11 | g.47342806A>G | CA2574816081 | MYBPC3 | c.1457+24T>C (n.1457+24T>C) c.1439+24T>C (n.1439+24T>C) | |
| 11 | g.47342807T>C | CA078094 | MYBPC3 | c.1457+23A>G (n.1457+23A>G) c.1439+23A>G (n.1439+23A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342807T= | CA1969336143 | MYBPC3 | c.1457+23A= (n.1457+23A=) c.1439+23A= (n.1439+23A=) | |
| 11 | g.47342808G>A | CA599374473 | MYBPC3 | c.1457+22C>T (n.1457+22C>T) c.1439+22C>T (n.1439+22C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342808G= | CA1969336145 | MYBPC3 | c.1457+22C= (n.1457+22C=) c.1439+22C= (n.1439+22C=) | |
| 11 | g.47342808G>T | CA221696128 | MYBPC3 | c.1457+22C>A (n.1457+22C>A) c.1439+22C>A (n.1439+22C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342809C>A | CA078092 | MYBPC3 | c.1457+21G>T (n.1457+21G>T) c.1439+21G>T (n.1439+21G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342809C= | CA1969336147 | MYBPC3 | c.1457+21G= (n.1457+21G=) c.1439+21G= (n.1439+21G=) | |
| 11 | g.47342809C>G | CA2574816083 | MYBPC3 | c.1457+21G>C (n.1457+21G>C) c.1439+21G>C (n.1439+21G>C) | |
| 11 | g.47342809C>T | CA599374474 | MYBPC3 | c.1457+21G>A (n.1457+21G>A) c.1439+21G>A (n.1439+21G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342809_47342810delinsAA | CA1139661932 | MYBPC3 | c.1457+20_1457+21delinsTT (n.1457+20_1457+21delinsTT) c.1439+20_1439+21delinsTT (n.1439+20_1439+21delinsTT) | ClinVar dbSNP |
| 11 | g.47342809_47342810delinsCC | CA1969336148 | MYBPC3 | c.1457+20_1457+21delinsGG (n.1457+20_1457+21delinsGG) c.1439+20_1439+21delinsGG (n.1439+20_1439+21delinsGG) | |
| 11 | g.47342810C>A | CA010339 | MYBPC3 | c.1457+20G>T (n.1457+20G>T) c.1439+20G>T (n.1439+20G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342810C= | CA1969336151 | MYBPC3 | c.1457+20G= (n.1457+20G=) c.1439+20G= (n.1439+20G=) | |
| 11 | g.47342810C>T | CA2740093712 | MYBPC3 | c.1457+20G>A (n.1457+20G>A) c.1439+20G>A (n.1439+20G>A) | ClinVar |
| 11 | g.47342811C= | CA1969336152 | MYBPC3 | c.1457+19G= (n.1457+19G=) c.1439+19G= (n.1439+19G=) | |
| 11 | g.47342811C>G | CA1969336153 | MYBPC3 | c.1457+19G>C (n.1457+19G>C) c.1439+19G>C (n.1439+19G>C) | ClinVar dbSNP |
| 11 | g.47342812C>A | CA045059 | MYBPC3 | c.1457+18G>T (n.1457+18G>T) c.1439+18G>T (n.1439+18G>T) | |
| 11 | g.47342812C= | CA1969336154 | MYBPC3 | c.1457+18G= (n.1457+18G=) c.1439+18G= (n.1439+18G=) | |
| 11 | g.47342812C>G | CA2613403684 | MYBPC3 | c.1457+18G>C (n.1457+18G>C) c.1439+18G>C (n.1439+18G>C) | gnomAD v4 |
| 11 | g.47342812C>T | CA078090 | MYBPC3 | c.1457+18G>A (n.1457+18G>A) c.1439+18G>A (n.1439+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342813G>A | CA045051 | MYBPC3 | c.1457+17C>T (n.1457+17C>T) c.1439+17C>T (n.1439+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342813G>C | CA937671648 | MYBPC3 | c.1457+17C>G (n.1457+17C>G) c.1439+17C>G (n.1439+17C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342813G= | CA1969336155 | MYBPC3 | c.1457+17C= (n.1457+17C=) c.1439+17C= (n.1439+17C=) | |
| 11 | g.47342813G>T | CA599374475 | MYBPC3 | c.1457+17C>A (n.1457+17C>A) c.1439+17C>A (n.1439+17C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342816C>A | CA2613403697 | MYBPC3 | c.1457+14G>T (n.1457+14G>T) c.1439+14G>T (n.1439+14G>T) | gnomAD v4 |
| 11 | g.47342816C= | CA1969336157 | MYBPC3 | c.1457+14G= (n.1457+14G=) c.1439+14G= (n.1439+14G=) | |
| 11 | g.47342816C>T | CA1969336158 | MYBPC3 | c.1457+14G>A (n.1457+14G>A) c.1439+14G>A (n.1439+14G>A) | dbSNP |
| 11 | g.47342819C= | CA1969336160 | MYBPC3 | c.1457+11G= (n.1457+11G=) c.1439+11G= (n.1439+11G=) | |
| 11 | g.47342819C>T | CA078087 | MYBPC3 | c.1457+11G>A (n.1457+11G>A) c.1439+11G>A (n.1439+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342825C>A | CA2582341867 | MYBPC3 | c.1457+5G>T (n.1457+5G>T) c.1439+5G>T (n.1439+5G>T) | ClinVar |
| 11 | g.47342825C= | CA1969336162 | MYBPC3 | c.1457+5G= (n.1457+5G=) c.1439+5G= (n.1439+5G=) | |
| 11 | g.47342825C>G | CA010350 | MYBPC3 | c.1457+5G>C (n.1457+5G>C) c.1439+5G>C (n.1439+5G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342825C>T | CA010344 | MYBPC3 | c.1457+5G>A (n.1457+5G>A) c.1439+5G>A (n.1439+5G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342826T>A | CA677000410 | MYBPC3 | c.1457+4A>T (n.1457+4A>T) c.1439+4A>T (n.1439+4A>T) | dbSNP |
| 11 | g.47342826T>C | CA10587729 | MYBPC3 | c.1457+4A>G (n.1457+4A>G) c.1439+4A>G (n.1439+4A>G) | ClinVar dbSNP |
| 11 | g.47342826T= | CA1969336163 | MYBPC3 | c.1457+4A= (n.1457+4A=) c.1439+4A= (n.1439+4A=) | |
| 11 | g.47342827_47342839del | CA2499220973 | MYBPC3 | c.1449_1457+4del c.1431_1439+4del | ClinVar dbSNP |
| 11 | g.47342827C>A | CA221696193 | MYBPC3 | c.1457+3G>T (n.1457+3G>T) c.1439+3G>T (n.1439+3G>T) | dbSNP |
| 11 | g.47342827C= | CA1969336165 | MYBPC3 | c.1457+3G= (n.1457+3G=) c.1439+3G= (n.1439+3G=) | |
| 11 | g.47342827C>G | CA221696195 | MYBPC3 | c.1457+3G>C (n.1457+3G>C) c.1439+3G>C (n.1439+3G>C) | dbSNP |
| 11 | g.47342828A= | CA1969336166 | MYBPC3 | c.1457+2T= (n.1457+2T=) c.1439+2T= (n.1439+2T=) | |
| 11 | g.47342828A>C | CA380325394 | MYBPC3 | c.1457+2T>G (n.1457+2T>G) c.1439+2T>G (n.1439+2T>G) | ClinVar dbSNP |
| 11 | g.47342828A>G | CA221696196 | MYBPC3 | c.1457+2T>C (n.1457+2T>C) c.1439+2T>C (n.1439+2T>C) | dbSNP |
| 11 | g.47342828A>T | CA221696210 | MYBPC3 | c.1457+2T>A (n.1457+2T>A) c.1439+2T>A (n.1439+2T>A) | dbSNP |
| 11 | g.47342829C>A | CA380325399 | MYBPC3 | c.1457+1G>T (n.1457+1G>T) c.1439+1G>T (n.1439+1G>T) | dbSNP |
| 11 | g.47342829C= | CA1969336167 | MYBPC3 | c.1457+1G= (n.1457+1G=) c.1439+1G= (n.1439+1G=) | |
| 11 | g.47342829C>G | CA380325401 | MYBPC3 | c.1457+1G>C (n.1457+1G>C) c.1439+1G>C (n.1439+1G>C) | |
| 11 | g.47342829C>T | CA380325405 | MYBPC3 | c.1457+1G>A (n.1457+1G>A) c.1439+1G>A (n.1439+1G>A) | |
| 11 | g.47342829_47342830delinsAG | CA2580084263 | MYBPC3 | c.1457_1457+1delinsCT c.1439_1439+1delinsCT | ClinVar |
| 11 | g.47342830C>A | CA380325409 | MYBPC3 | c.1457G>T (p.Trp486Leu) c.1439G>T (p.Trp480Leu) | |
| 11 | g.47342830C= | CA1969336169 | MYBPC3 | c.1457G= (p.Trp486=) c.1439G= (p.Trp480=) | |
| 11 | g.47342830C>G | CA380325412 | MYBPC3 | c.1457G>C (p.Trp486Ser) c.1439G>C (p.Trp480Ser) | dbSNP |
| 11 | g.47342830C>T | CA010361 | MYBPC3 | c.1457G>A (p.Trp486Ter) c.1439G>A (p.Trp480Ter) | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.47342831A= | CA1969336172 | MYBPC3 | c.1456T= (p.Trp486=) c.1438T= (p.Trp480=) | |
| 11 | g.47342831A>C | CA010331 | MYBPC3 | c.1456T>G (p.Trp486Gly) c.1438T>G (p.Trp480Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342831A>G | CA010326 | MYBPC3 | c.1456T>C (p.Trp486Arg) c.1438T>C (p.Trp480Arg) | ClinVar dbSNP |
| 11 | g.47342831A>T | CA380325420 | MYBPC3 | c.1456T>A (p.Trp486Arg) c.1438T>A (p.Trp480Arg) | COSMIC |
| 11 | g.47342832T>A | CA380325427 | MYBPC3 | c.1455A>T (p.Lys485Asn) c.1437A>T (p.Lys479Asn) | ClinVar gnomAD v4 |
| 11 | g.47342832T>C | CA474429396 | MYBPC3 | c.1455A>G (p.Lys485=) c.1437A>G (p.Lys479=) | |
| 11 | g.47342832T>G | CA380325429 | MYBPC3 | c.1455A>C (p.Lys485Asn) c.1437A>C (p.Lys479Asn) | |
| 11 | g.47342833T>A | CA380325435 | MYBPC3 | c.1454A>T (p.Lys485Ile) c.1436A>T (p.Lys479Ile) | |
| 11 | g.47342833T>C | CA380325437 | MYBPC3 | c.1454A>G (p.Lys485Arg) c.1436A>G (p.Lys479Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342833T>G | CA380325438 | MYBPC3 | c.1454A>C (p.Lys485Thr) c.1436A>C (p.Lys479Thr) | |
| 11 | g.47342833T= | CA1969336173 | MYBPC3 | c.1454A= (p.Lys485=) c.1436A= (p.Lys479=) | |
| 11 | g.47342834T>A | CA380325442 | MYBPC3 | c.1453A>T (p.Lys485Ter) c.1435A>T (p.Lys479Ter) | |
| 11 | g.47342834T>C | CA380325446 | MYBPC3 | c.1453A>G (p.Lys485Glu) c.1435A>G (p.Lys479Glu) | |
| 11 | g.47342834T>G | CA380325444 | MYBPC3 | c.1453A>C (p.Lys485Gln) c.1435A>C (p.Lys479Gln) | |
| 11 | g.47342835G>A | CA474429400 | MYBPC3 | c.1452C>T (p.Val484=) c.1434C>T (p.Val478=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342835G>C | CA474429401 | MYBPC3 | c.1452C>G (p.Val484=) c.1434C>G (p.Val478=) | dbSNP |
| 11 | g.47342835G= | CA1969336175 | MYBPC3 | c.1452C= (p.Val484=) c.1434C= (p.Val478=) | |
| 11 | g.47342835G>T | CA474429402 | MYBPC3 | c.1452C>A (p.Val484=) c.1434C>A (p.Val478=) | |
| 11 | g.47342836A>C | CA380325451 | MYBPC3 | c.1451T>G (p.Val484Gly) c.1433T>G (p.Val478Gly) | |
| 11 | g.47342836A>G | CA380325454 | MYBPC3 | c.1451T>C (p.Val484Ala) c.1433T>C (p.Val478Ala) | |
| 11 | g.47342836A>T | CA380325459 | MYBPC3 | c.1451T>A (p.Val484Asp) c.1433T>A (p.Val478Asp) | |
| 11 | g.47342837C>A | CA380325463 | MYBPC3 | c.1450G>T (p.Val484Phe) c.1432G>T (p.Val478Phe) | |
| 11 | g.47342837C>G | CA380325482 | MYBPC3 | c.1450G>C (p.Val484Leu) c.1432G>C (p.Val478Leu) | |
| 11 | g.47342837C>T | CA045241 | MYBPC3 | c.1450G>A (p.Val484Ile) c.1432G>A (p.Val478Ile) | |
| 11 | g.47342838T>A | CA380325495 | MYBPC3 | c.1449A>T (p.Gln483His) c.1431A>T (p.Gln477His) | |
| 11 | g.47342838T>C | CA474429407 | MYBPC3 | c.1449A>G (p.Gln483=) c.1431A>G (p.Gln477=) | |
| 11 | g.47342838T>G | CA380325498 | MYBPC3 | c.1449A>C (p.Gln483His) c.1431A>C (p.Gln477His) | |
| 11 | g.47342839T>A | CA380325502 | MYBPC3 | c.1448A>T (p.Gln483Leu) c.1430A>T (p.Gln477Leu) | |
| 11 | g.47342839T>C | CA380325503 | MYBPC3 | c.1448A>G (p.Gln483Arg) c.1430A>G (p.Gln477Arg) | |
| 11 | g.47342839T>G | CA380325504 | MYBPC3 | c.1448A>C (p.Gln483Pro) c.1430A>C (p.Gln477Pro) | |
| 11 | g.47342839_47342842delinsGGGT | CA045128 | MYBPC3 | c.1445_1448delinsACCC (p.Ala482_Gln483delinsAspPro) c.1427_1430delinsACCC (p.Ala476_Gln477delinsAspPro) | |
| 11 | g.47342840G>A | CA010317 | MYBPC3 | c.1447C>T (p.Gln483Ter) c.1429C>T (p.Gln477Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342840G>C | CA380325512 | MYBPC3 | c.1447C>G (p.Gln483Glu) c.1429C>G (p.Gln477Glu) | |
| 11 | g.47342840G= | CA1969336177 | MYBPC3 | c.1447C= (p.Gln483=) c.1429C= (p.Gln477=) | |
| 11 | g.47342840G>T | CA380325505 | MYBPC3 | c.1447C>A (p.Gln483Lys) c.1429C>A (p.Gln477Lys) | |
| 11 | g.47342841C>A | CA078085 | MYBPC3 | c.1446G>T (p.Ala482=) c.1428G>T (p.Ala476=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342841C= | CA1969336178 | MYBPC3 | c.1446G= (p.Ala482=) c.1428G= (p.Ala476=) | |
| 11 | g.47342841C>G | CA474429411 | MYBPC3 | c.1446G>C (p.Ala482=) c.1428G>C (p.Ala476=) | |
| 11 | g.47342841C>T | CA474429412 | MYBPC3 | c.1446G>A (p.Ala482=) c.1428G>A (p.Ala476=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342842G>A | CA010308 | MYBPC3 | c.1445C>T (p.Ala482Val) c.1427C>T (p.Ala476Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342842G>C | CA380325518 | MYBPC3 | c.1445C>G (p.Ala482Gly) c.1427C>G (p.Ala476Gly) | |
| 11 | g.47342842G= | CA1969336180 | MYBPC3 | c.1445C= (p.Ala482=) c.1427C= (p.Ala476=) | |
| 11 | g.47342842G>T | CA380325516 | MYBPC3 | c.1445C>A (p.Ala482Glu) c.1427C>A (p.Ala476Glu) | COSMIC COSMIC |
| 11 | g.47342843C>A | CA380325523 | MYBPC3 | c.1444G>T (p.Ala482Ser) c.1426G>T (p.Ala476Ser) | dbSNP gnomAD v4 |
| 11 | g.47342843C= | CA1969336183 | MYBPC3 | c.1444G= (p.Ala482=) c.1426G= (p.Ala476=) | |
| 11 | g.47342843C>G | CA380325526 | MYBPC3 | c.1444G>C (p.Ala482Pro) c.1426G>C (p.Ala476Pro) | |
| 11 | g.47342843C>T | CA380325530 | MYBPC3 | c.1444G>A (p.Ala482Thr) c.1426G>A (p.Ala476Thr) | gnomAD v4 |
| 11 | g.47342847dup | CA10576891 | MYBPC3 | c.1444dup (p.Ala482GlyfsTer?) c.1426dup (p.Ala476GlyfsTer?) | ClinVar dbSNP |
| 11 | g.47342847del | CA2739291478 | MYBPC3 | c.1444del (p.Ala482ArgfsTer6) c.1426del (p.Ala476ArgfsTer6) | |
| 11 | g.47342844C>A | CA045011 | MYBPC3 | c.1443G>T (p.Gly481=) c.1425G>T (p.Gly475=) | |
| 11 | g.47342844C= | CA1969336185 | MYBPC3 | c.1443G= (p.Gly481=) c.1425G= (p.Gly475=) | |
| 11 | g.47342844C>G | CA474429417 | MYBPC3 | c.1443G>C (p.Gly481=) c.1425G>C (p.Gly475=) | |
| 11 | g.47342844C>T | CA221696276 | MYBPC3 | c.1443G>A (p.Gly481=) c.1425G>A (p.Gly475=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342845C>A | CA380325534 | MYBPC3 | c.1442G>T (p.Gly481Val) c.1424G>T (p.Gly475Val) | |
| 11 | g.47342845C= | CA1969336186 | MYBPC3 | c.1442G= (p.Gly481=) c.1424G= (p.Gly475=) | |
| 11 | g.47342845C>G | CA380325538 | MYBPC3 | c.1442G>C (p.Gly481Ala) c.1424G>C (p.Gly475Ala) | ClinVar |
| 11 | g.47342845C>T | CA078083 | MYBPC3 | c.1442G>A (p.Gly481Glu) c.1424G>A (p.Gly475Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342845_47342847delinsCCC | CA1969336188 | MYBPC3 | c.1440_1442delinsGGG (p.Glu480=) c.1422_1424delinsGGG (p.Glu474=) | |
| 11 | g.47342846C>A | CA380325553 | MYBPC3 | c.1441G>T (p.Gly481Trp) c.1423G>T (p.Gly475Trp) | |
| 11 | g.47342846C= | CA1969336190 | MYBPC3 | c.1441G= (p.Gly481=) c.1423G= (p.Gly475=) | |
| 11 | g.47342846C>G | CA380325557 | MYBPC3 | c.1441G>C (p.Gly481Arg) c.1423G>C (p.Gly475Arg) | ClinVar dbSNP |
| 11 | g.47342846C>T | CA380325562 | MYBPC3 | c.1441G>A (p.Gly481Arg) c.1423G>A (p.Gly475Arg) | |
| 11 | g.47342846_47342847delinsG | CA915948157 | MYBPC3 | c.1440_1441delinsC (p.Glu480AspfsTer8) c.1422_1423delinsC (p.Glu474AspfsTer8) | ClinVar dbSNP |
| 11 | g.47342851_47342853del | CA2613403859 | MYBPC3 | c.1439_1441del (p.Glu480del) c.1421_1423del (p.Glu474del) | gnomAD v4 |
| 11 | g.47342847C>A | CA380325565 | MYBPC3 | c.1440G>T (p.Glu480Asp) c.1422G>T (p.Glu474Asp) | |
| 11 | g.47342847C= | CA1969336192 | MYBPC3 | c.1440G= (p.Glu480=) c.1422G= (p.Glu474=) | |
| 11 | g.47342847C>G | CA380325566 | MYBPC3 | c.1440G>C (p.Glu480Asp) c.1422G>C (p.Glu474Asp) | |
| 11 | g.47342847C>T | CA078081 | MYBPC3 | c.1440G>A (p.Glu480=) c.1422G>A (p.Glu474=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47342848T>A | CA380325586 | MYBPC3 | c.1439A>T (p.Glu480Val) c.1421A>T (p.Glu474Val) | |
| 11 | g.47342848T>C | CA380325569 | MYBPC3 | c.1439A>G (p.Glu480Gly) c.1421A>G (p.Glu474Gly) | ClinVar dbSNP |
| 11 | g.47342848T>G | CA380325576 | MYBPC3 | c.1439A>C (p.Glu480Ala) c.1421A>C (p.Glu474Ala) | |
| 11 | g.47342848T= | CA1969336195 | MYBPC3 | c.1439A= (p.Glu480=) c.1421A= (p.Glu474=) | |
| 11 | g.47342849C>A | CA380325592 | MYBPC3 | c.1438G>T (p.Glu480Ter) c.1420G>T (p.Glu474Ter) | |
| 11 | g.47342849C>G | CA380325605 | MYBPC3 | c.1438G>C (p.Glu480Gln) c.1420G>C (p.Glu474Gln) | |
| 11 | g.47342849C>T | CA380325607 | MYBPC3 | c.1438G>A (p.Glu480Lys) c.1420G>A (p.Glu474Lys) | |
| 11 | g.47342850C>A | CA380325611 | MYBPC3 | c.1437G>T (p.Glu479Asp) c.1419G>T (p.Glu473Asp) | |
| 11 | g.47342850C>G | CA380325615 | MYBPC3 | c.1437G>C (p.Glu479Asp) c.1419G>C (p.Glu473Asp) | |
| 11 | g.47342850C>T | CA044967 | MYBPC3 | c.1437G>A (p.Glu479=) c.1419G>A (p.Glu473=) | |
| 11 | g.47342851T>A | CA380325622 | MYBPC3 | c.1436A>T (p.Glu479Val) c.1418A>T (p.Glu473Val) | |
| 11 | g.47342851T>C | CA380325627 | MYBPC3 | c.1436A>G (p.Glu479Gly) c.1418A>G (p.Glu473Gly) | |
| 11 | g.47342851T>G | CA380325633 | MYBPC3 | c.1436A>C (p.Glu479Ala) c.1418A>C (p.Glu473Ala) | |
| 11 | g.47342851_47342855delinsGC | CA2499220974 | MYBPC3 | c.1432_1436delinsGC (p.Ser478_Glu479delinsAla) c.1414_1418delinsGC (p.Ser472_Glu473delinsAla) | ClinVar dbSNP |
| 11 | g.47342852C>A | CA380325652 | MYBPC3 | c.1435G>T (p.Glu479Ter) c.1417G>T (p.Glu473Ter) | |
| 11 | g.47342852C>G | CA380325653 | MYBPC3 | c.1435G>C (p.Glu479Gln) c.1417G>C (p.Glu473Gln) | |
| 11 | g.47342852C>T | CA380325654 | MYBPC3 | c.1435G>A (p.Glu479Lys) c.1417G>A (p.Glu473Lys) | |
| 11 | g.47342853C>A | CA474429424 | MYBPC3 | c.1434G>T (p.Ser478=) c.1416G>T (p.Ser472=) | |
| 11 | g.47342853C= | CA1969336197 | MYBPC3 | c.1434G= (p.Ser478=) c.1416G= (p.Ser472=) | |
| 11 | g.47342853C>G | CA474429425 | MYBPC3 | c.1434G>C (p.Ser478=) c.1416G>C (p.Ser472=) | ClinVar dbSNP |
| 11 | g.47342853C>T | CA078079 | MYBPC3 | c.1434G>A (p.Ser478=) c.1416G>A (p.Ser472=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47342854G>A | CA010300 | MYBPC3 | c.1433C>T (p.Ser478Leu) c.1415C>T (p.Ser472Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342854G>C | CA380325680 | MYBPC3 | c.1433C>G (p.Ser478Trp) c.1415C>G (p.Ser472Trp) | dbSNP gnomAD v2 |
| 11 | g.47342854G= | CA1969336200 | MYBPC3 | c.1433C= (p.Ser478=) c.1415C= (p.Ser472=) | |
| 11 | g.47342854G>T | CA380325678 | MYBPC3 | c.1433C>A (p.Ser478Ter) c.1415C>A (p.Ser472Ter) | |
| 11 | g.47342855A>C | CA380325686 | MYBPC3 | c.1432T>G (p.Ser478Ala) c.1414T>G (p.Ser472Ala) | gnomAD v4 |
| 11 | g.47342855A>G | CA380325690 | MYBPC3 | c.1432T>C (p.Ser478Pro) c.1414T>C (p.Ser472Pro) | |
| 11 | g.47342855A>T | CA380325696 | MYBPC3 | c.1432T>A (p.Ser478Thr) c.1414T>A (p.Ser472Thr) | |
| 11 | g.47342856T>A | CA474429426 | MYBPC3 | c.1431A>T (p.Val477=) c.1413A>T (p.Val471=) | |
| 11 | g.47342856T>C | CA010293 | MYBPC3 | c.1431A>G (p.Val477=) c.1413A>G (p.Val471=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342856T>G | CA474429429 | MYBPC3 | c.1431A>C (p.Val477=) c.1413A>C (p.Val471=) | |
| 11 | g.47342856T= | CA1969336202 | MYBPC3 | c.1431A= (p.Val477=) c.1413A= (p.Val471=) | |
| 11 | g.47342857_47342860del | CA2825002011 | MYBPC3 | c.1428_1431del (p.Glu476AspfsTer11) c.1410_1413del (p.Glu470AspfsTer11) | ClinVar |
| 11 | g.47342857A= | CA1969336204 | MYBPC3 | c.1430T= (p.Val477=) c.1412T= (p.Val471=) | |
| 11 | g.47342857A>C | CA380325709 | MYBPC3 | c.1430T>G (p.Val477Gly) c.1412T>G (p.Val471Gly) | |
| 11 | g.47342857A>G | CA380325713 | MYBPC3 | c.1430T>C (p.Val477Ala) c.1412T>C (p.Val471Ala) | |
| 11 | g.47342857A>T | CA380325718 | MYBPC3 | c.1430T>A (p.Val477Glu) c.1412T>A (p.Val471Glu) | ClinVar dbSNP |
| 11 | g.47342857_47342858delinsAC | CA1969336203 | MYBPC3 | c.1429_1430delinsGT (p.Val477=) c.1411_1412delinsGT (p.Val471=) | |
| 11 | g.47342858del | CA645372293 | MYBPC3 | c.1429del (p.Val477TyrfsTer11) c.1411del (p.Val471TyrfsTer11) | dbSNP |
| 11 | g.47342858C>A | CA380325721 | MYBPC3 | c.1429G>T (p.Val477Leu) c.1411G>T (p.Val471Leu) | |
| 11 | g.47342858C= | CA1969336206 | MYBPC3 | c.1429G= (p.Val477=) c.1411G= (p.Val471=) | |
| 11 | g.47342858C>G | CA380325724 | MYBPC3 | c.1429G>C (p.Val477Leu) c.1411G>C (p.Val471Leu) | gnomAD v4 |
| 11 | g.47342858C>T | CA380325729 | MYBPC3 | c.1429G>A (p.Val477Ile) c.1411G>A (p.Val471Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342859T>A | CA380325733 | MYBPC3 | c.1428A>T (p.Glu476Asp) c.1410A>T (p.Glu470Asp) | |
| 11 | g.47342859T>C | CA474429431 | MYBPC3 | c.1428A>G (p.Glu476=) c.1410A>G (p.Glu470=) | COSMIC COSMIC |
| 11 | g.47342859T>G | CA380325740 | MYBPC3 | c.1428A>C (p.Glu476Asp) c.1410A>C (p.Glu470Asp) | |
| 11 | g.47342860T>A | CA380325753 | MYBPC3 | c.1427A>T (p.Glu476Val) c.1409A>T (p.Glu470Val) | |
| 11 | g.47342860T>C | CA380325745 | MYBPC3 | c.1427A>G (p.Glu476Gly) c.1409A>G (p.Glu470Gly) | |
| 11 | g.47342860T>G | CA380325752 | MYBPC3 | c.1427A>C (p.Glu476Ala) c.1409A>C (p.Glu470Ala) | |
| 11 | g.47342861C>A | CA380325754 | MYBPC3 | c.1426G>T (p.Glu476Ter) c.1408G>T (p.Glu470Ter) | |
| 11 | g.47342861C>G | CA380325755 | MYBPC3 | c.1426G>C (p.Glu476Gln) c.1408G>C (p.Glu470Gln) | |
| 11 | g.47342861C>T | CA380325759 | MYBPC3 | c.1426G>A (p.Glu476Lys) c.1408G>A (p.Glu470Lys) | |
| 11 | g.47342862A>C | CA380325766 | MYBPC3 | c.1425T>G (p.Cys475Trp) c.1407T>G (p.Cys469Trp) | |
| 11 | g.47342862A>G | CA474429434 | MYBPC3 | c.1425T>C (p.Cys475=) c.1407T>C (p.Cys469=) | |
| 11 | g.47342862A>T | CA380325772 | MYBPC3 | c.1425T>A (p.Cys475Ter) c.1407T>A (p.Cys469Ter) | |
| 11 | g.47342863C>A | CA380325779 | MYBPC3 | c.1424G>T (p.Cys475Phe) c.1406G>T (p.Cys469Phe) | |
| 11 | g.47342863C>G | CA380325799 | MYBPC3 | c.1424G>C (p.Cys475Ser) c.1406G>C (p.Cys469Ser) | |
| 11 | g.47342863C>T | CA380325800 | MYBPC3 | c.1424G>A (p.Cys475Tyr) c.1406G>A (p.Cys469Tyr) | |
| 11 | g.47342865_47342868del | CA2573051235 | MYBPC3 | c.1421_1424del (p.Glu474ValfsTer13) c.1403_1406del (p.Glu468ValfsTer13) | |
| 11 | g.47342864A= | CA1969336207 | MYBPC3 | c.1423T= (p.Cys475=) c.1405T= (p.Cys469=) | |
| 11 | g.47342864A>C | CA380325804 | MYBPC3 | c.1423T>G (p.Cys475Gly) c.1405T>G (p.Cys469Gly) | |
| 11 | g.47342864A>G | CA078075 | MYBPC3 | c.1423T>C (p.Cys475Arg) c.1405T>C (p.Cys469Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342864A>T | CA380325828 | MYBPC3 | c.1423T>A (p.Cys475Ser) c.1405T>A (p.Cys469Ser) | gnomAD v4 |
| 11 | g.47342864_47342865delinsAC | CA1969336209 | MYBPC3 | c.1422_1423delinsGT (p.Glu474=) c.1404_1405delinsGT (p.Glu468=) | |
| 11 | g.47342868_47342873del | CA2695213905 | MYBPC3 | c.1418_1423del (p.Phe473_Glu474del) c.1400_1405del (p.Phe467_Glu468del) | |
| 11 | g.47342865del | CA891842477 | MYBPC3 | c.1422del (p.Glu474AspfsTer14) c.1404del (p.Glu468AspfsTer14) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342865C>A | CA380325835 | MYBPC3 | c.1422G>T (p.Glu474Asp) c.1404G>T (p.Glu468Asp) | |
| 11 | g.47342865C= | CA1969336213 | MYBPC3 | c.1422G= (p.Glu474=) c.1404G= (p.Glu468=) | |
| 11 | g.47342865C>G | CA010285 | MYBPC3 | c.1422G>C (p.Glu474Asp) c.1404G>C (p.Glu468Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342865C>T | CA078073 | MYBPC3 | c.1422G>A (p.Glu474=) c.1404G>A (p.Glu468=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342866T>A | CA380325855 | MYBPC3 | c.1421A>T (p.Glu474Val) c.1403A>T (p.Glu468Val) | |
| 11 | g.47342866T>C | CA380325851 | MYBPC3 | c.1421A>G (p.Glu474Gly) c.1403A>G (p.Glu468Gly) | |
| 11 | g.47342866T>G | CA380325852 | MYBPC3 | c.1421A>C (p.Glu474Ala) c.1403A>C (p.Glu468Ala) | |
| 11 | g.47342867C>A | CA380325867 | MYBPC3 | c.1420G>T (p.Glu474Ter) c.1402G>T (p.Glu468Ter) | ClinVar dbSNP |
| 11 | g.47342867C= | CA1969336215 | MYBPC3 | c.1420G= (p.Glu474=) c.1402G= (p.Glu468=) | |
| 11 | g.47342867C>G | CA380325871 | MYBPC3 | c.1420G>C (p.Glu474Gln) c.1402G>C (p.Glu468Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342867C>T | CA380325875 | MYBPC3 | c.1420G>A (p.Glu474Lys) c.1402G>A (p.Glu468Lys) | gnomAD v4 |
| 11 | g.47342868A>C | CA380325881 | MYBPC3 | c.1419T>G (p.Phe473Leu) c.1401T>G (p.Phe467Leu) | |
| 11 | g.47342868A>G | CA474429441 | MYBPC3 | c.1419T>C (p.Phe473=) c.1401T>C (p.Phe467=) | gnomAD v4 |
| 11 | g.47342868A>T | CA380325885 | MYBPC3 | c.1419T>A (p.Phe473Leu) c.1401T>A (p.Phe467Leu) | |
| 11 | g.47342870dup | CA1139661933 | MYBPC3 | c.1419dup (p.Glu474Ter) c.1401dup (p.Glu468Ter) | ClinVar dbSNP |
| 11 | g.47342869A= | CA1969336219 | MYBPC3 | c.1418T= (p.Phe473=) c.1400T= (p.Phe467=) | |
| 11 | g.47342869A>C | CA380325897 | MYBPC3 | c.1418T>G (p.Phe473Cys) c.1400T>G (p.Phe467Cys) | |
| 11 | g.47342869A>G | CA010275 | MYBPC3 | c.1418T>C (p.Phe473Ser) c.1400T>C (p.Phe467Ser) | ClinVar dbSNP |
| 11 | g.47342869A>T | CA380325902 | MYBPC3 | c.1418T>A (p.Phe473Tyr) c.1400T>A (p.Phe467Tyr) | |
| 11 | g.47342870A>C | CA380325904 | MYBPC3 | c.1417T>G (p.Phe473Val) c.1399T>G (p.Phe467Val) | |
| 11 | g.47342870A>G | CA380325907 | MYBPC3 | c.1417T>C (p.Phe473Leu) c.1399T>C (p.Phe467Leu) | |
| 11 | g.47342870A>T | CA380325909 | MYBPC3 | c.1417T>A (p.Phe473Ile) c.1399T>A (p.Phe467Ile) | |
| 11 | g.47342871C>A | CA380325917 | MYBPC3 | c.1416G>T (p.Glu472Asp) c.1398G>T (p.Glu466Asp) | |
| 11 | g.47342871C>G | CA380325913 | MYBPC3 | c.1416G>C (p.Glu472Asp) c.1398G>C (p.Glu466Asp) | |
| 11 | g.47342871C>T | CA045208 | MYBPC3 | c.1416G>A (p.Glu472=) c.1398G>A (p.Glu466=) | |
| 11 | g.47342872T>A | CA380325924 | MYBPC3 | c.1415A>T (p.Glu472Val) c.1397A>T (p.Glu466Val) | |
| 11 | g.47342872T>C | CA380325929 | MYBPC3 | c.1415A>G (p.Glu472Gly) c.1397A>G (p.Glu466Gly) | ClinVar dbSNP |
| 11 | g.47342872T>G | CA380325933 | MYBPC3 | c.1415A>C (p.Glu472Ala) c.1397A>C (p.Glu466Ala) | |
| 11 | g.47342872T= | CA1969336221 | MYBPC3 | c.1415A= (p.Glu472=) c.1397A= (p.Glu466=) | |
| 11 | g.47342873C>A | CA380325941 | MYBPC3 | c.1414G>T (p.Glu472Ter) c.1396G>T (p.Glu466Ter) | |
| 11 | g.47342873C>G | CA380325947 | MYBPC3 | c.1414G>C (p.Glu472Gln) c.1396G>C (p.Glu466Gln) | |
| 11 | g.47342873C>T | CA380325951 | MYBPC3 | c.1414G>A (p.Glu472Lys) c.1396G>A (p.Glu466Lys) | |
| 11 | g.47342874C>A | CA474429447 | MYBPC3 | c.1413G>T (p.Val471=) c.1395G>T (p.Val465=) | |
| 11 | g.47342874C= | CA1969336223 | MYBPC3 | c.1413G= (p.Val471=) c.1395G= (p.Val465=) | |
| 11 | g.47342874C>G | CA474429446 | MYBPC3 | c.1413G>C (p.Val471=) c.1395G>C (p.Val465=) | |
| 11 | g.47342874C>T | CA474429445 | MYBPC3 | c.1413G>A (p.Val471=) c.1395G>A (p.Val465=) | dbSNP gnomAD v4 |
| 11 | g.47342874_47342875delinsAT | CA2695213906 | MYBPC3 | c.1412_1413delinsAT (p.Val471Asp) c.1394_1395delinsAT (p.Val465Asp) | |
| 11 | g.47342875A= | CA1969336226 | MYBPC3 | c.1412T= (p.Val471=) c.1394T= (p.Val465=) | |
| 11 | g.47342875A>C | CA380325954 | MYBPC3 | c.1412T>G (p.Val471Gly) c.1394T>G (p.Val465Gly) | dbSNP |
| 11 | g.47342875A>G | CA380325956 | MYBPC3 | c.1412T>C (p.Val471Ala) c.1394T>C (p.Val465Ala) | |
| 11 | g.47342875A>T | CA380325958 | MYBPC3 | c.1412T>A (p.Val471Glu) c.1394T>A (p.Val465Glu) | |
| 11 | g.47342875_47342877delinsACC | CA1969336225 | MYBPC3 | c.1410_1412delinsGGT (p.Arg470=) c.1392_1394delinsGGT (p.Arg464=) | |
| 11 | g.47342876C>A | CA380325960 | MYBPC3 | c.1411G>T (p.Val471Leu) c.1393G>T (p.Val465Leu) | gnomAD v4 |
| 11 | g.47342876C= | CA1969336228 | MYBPC3 | c.1411G= (p.Val471=) c.1393G= (p.Val465=) | |
| 11 | g.47342876C>G | CA380325965 | MYBPC3 | c.1411G>C (p.Val471Leu) c.1393G>C (p.Val465Leu) | ClinVar dbSNP |
| 11 | g.47342876C>T | CA380325966 | MYBPC3 | c.1411G>A (p.Val471Met) c.1393G>A (p.Val465Met) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342877_47342878del | CA010266 | MYBPC3 | c.1410_1411del (p.Val471GlyfsTer3) c.1392_1393del (p.Val465GlyfsTer3) | ClinVar dbSNP |
| 11 | g.47342877C>A | CA474429453 | MYBPC3 | c.1410G>T (p.Arg470=) c.1392G>T (p.Arg464=) | |
| 11 | g.47342877C= | CA1969336230 | MYBPC3 | c.1410G= (p.Arg470=) c.1392G= (p.Arg464=) | |
| 11 | g.47342877C>G | CA474429454 | MYBPC3 | c.1410G>C (p.Arg470=) c.1392G>C (p.Arg464=) | |
| 11 | g.47342877C>T | CA474429455 | MYBPC3 | c.1410G>A (p.Arg470=) c.1392G>A (p.Arg464=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342878C>A | CA380325986 | MYBPC3 | c.1409G>T (p.Arg470Leu) c.1391G>T (p.Arg464Leu) | |
| 11 | g.47342878C= | CA1969336232 | MYBPC3 | c.1409G= (p.Arg470=) c.1391G= (p.Arg464=) | |
| 11 | g.47342878C>G | CA380325984 | MYBPC3 | c.1409G>C (p.Arg470Pro) c.1391G>C (p.Arg464Pro) | |
| 11 | g.47342878C>T | CA078071 | MYBPC3 | c.1409G>A (p.Arg470Gln) c.1391G>A (p.Arg464Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47342879G>A | CA380326001 | MYBPC3 | c.1408C>T (p.Arg470Trp) c.1390C>T (p.Arg464Trp) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342879G>C | CA380326005 | MYBPC3 | c.1408C>G (p.Arg470Gly) c.1390C>G (p.Arg464Gly) | ClinVar dbSNP |
| 11 | g.47342879G= | CA1969336234 | MYBPC3 | c.1408C= (p.Arg470=) c.1390C= (p.Arg464=) | |
| 11 | g.47342879G>T | CA474429456 | MYBPC3 | c.1408C>A (p.Arg470=) c.1390C>A (p.Arg464=) | |
| 11 | g.47342880C>A | CA380326009 | MYBPC3 | c.1407G>T (p.Gln469His) c.1389G>T (p.Gln463His) | |
| 11 | g.47342880C>G | CA380326010 | MYBPC3 | c.1407G>C (p.Gln469His) c.1389G>C (p.Gln463His) | |
| 11 | g.47342880C>T | CA474429459 | MYBPC3 | c.1407G>A (p.Gln469=) c.1389G>A (p.Gln463=) | |
| 11 | g.47342881T>A | CA380326011 | MYBPC3 | c.1406A>T (p.Gln469Leu) c.1388A>T (p.Gln463Leu) | |
| 11 | g.47342881T>C | CA380326014 | MYBPC3 | c.1406A>G (p.Gln469Arg) c.1388A>G (p.Gln463Arg) | |
| 11 | g.47342881T>G | CA380326016 | MYBPC3 | c.1406A>C (p.Gln469Pro) c.1388A>C (p.Gln463Pro) | |
| 11 | g.47342882G>A | CA010259 | MYBPC3 | c.1405C>T (p.Gln469Ter) c.1387C>T (p.Gln463Ter) | ClinVar dbSNP |
| 11 | g.47342882G>C | CA078069 | MYBPC3 | c.1405C>G (p.Gln469Glu) c.1387C>G (p.Gln463Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342882G= | CA1969336236 | MYBPC3 | c.1405C= (p.Gln469=) c.1387C= (p.Gln463=) | |
| 11 | g.47342882G>T | CA380326027 | MYBPC3 | c.1405C>A (p.Gln469Lys) c.1387C>A (p.Gln463Lys) | |
| 11 | g.47342882_47342883delinsGC | CA1969336237 | MYBPC3 | c.1404_1405delinsGC (p.Gly468=) c.1386_1387delinsGC (p.Gly462=) | |
| 11 | g.47342883C>A | CA474429462 | MYBPC3 | c.1404G>T (p.Gly468=) c.1386G>T (p.Gly462=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342883C= | CA1969336240 | MYBPC3 | c.1404G= (p.Gly468=) c.1386G= (p.Gly462=) | |
| 11 | g.47342883C>G | CA474429461 | MYBPC3 | c.1404G>C (p.Gly468=) c.1386G>C (p.Gly462=) | |
| 11 | g.47342883C>T | CA474429460 | MYBPC3 | c.1404G>A (p.Gly468=) c.1386G>A (p.Gly462=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342886del | CA10586354 | MYBPC3 | c.1404del (p.Gln469SerfsTer19) c.1386del (p.Gln463SerfsTer19) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342884C>A | CA380326033 | MYBPC3 | c.1403G>T (p.Gly468Val) c.1385G>T (p.Gly462Val) | |
| 11 | g.47342884C>G | CA380326034 | MYBPC3 | c.1403G>C (p.Gly468Ala) c.1385G>C (p.Gly462Ala) | |
| 11 | g.47342884C>T | CA380326035 | MYBPC3 | c.1403G>A (p.Gly468Glu) c.1385G>A (p.Gly462Glu) | |
| 11 | g.47342885C>A | CA380326048 | MYBPC3 | c.1402G>T (p.Gly468Trp) c.1384G>T (p.Gly462Trp) | |
| 11 | g.47342885C>G | CA380326044 | MYBPC3 | c.1402G>C (p.Gly468Arg) c.1384G>C (p.Gly462Arg) | |
| 11 | g.47342885C>T | CA380326040 | MYBPC3 | c.1402G>A (p.Gly468Arg) c.1384G>A (p.Gly462Arg) |