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 |
|---|---|---|---|---|---|
| 14 | g.23415485_23415487dup | CA345751 | MHRT,MYH7 | c.5186_5188dup (p.Lys1729_Met1730insLys) n.36_38dup | ClinVar dbSNP |
| 14 | g.23415485_23415487del | CA015751 | MHRT,MYH7 | c.5186_5188del (p.Lys1729del) n.36_38del | ClinVar dbSNP gnomAD v4 |
| 14 | g.23415485del | CA1139663360 | MHRT,MYH7 | c.5180del (p.Lys1727ArgfsTer?) n.36del | ClinVar dbSNP |
| 14 | g.23415485T>A | CA389036782 | MHRT,MYH7 | c.5179A>T (p.Lys1727Ter) n.36T>A | |
| 14 | g.23415485T>C | CA389036784 | MHRT,MYH7 | c.5179A>G (p.Lys1727Glu) n.36T>C | |
| 14 | g.23415485T>G | CA389036783 | MHRT,MYH7 | c.5179A>C (p.Lys1727Gln) n.36T>G | |
| 14 | g.23415486C>A | CA389036785 | MHRT,MYH7 | c.5178G>T (p.Gln1726His) n.37C>A | |
| 14 | g.23415486C= | CA2123463426 | MHRT,MYH7 | c.5178G= (p.Gln1726=) n.37C= | |
| 14 | g.23415486C>G | CA389036786 | MHRT,MYH7 | c.5178G>C (p.Gln1726His) n.37C>G | |
| 14 | g.23415486C>T | CA045662 | MHRT,MYH7 | c.5178G>A (p.Gln1726=) n.37C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23415487T>A | CA389036787 | MHRT,MYH7 | c.5177A>T (p.Gln1726Leu) n.38T>A | |
| 14 | g.23415487T>C | CA389036789 | MHRT,MYH7 | c.5177A>G (p.Gln1726Arg) n.38T>C | gnomAD v4 |
| 14 | g.23415487T>G | CA389036788 | MHRT,MYH7 | c.5177A>C (p.Gln1726Pro) n.38T>G | |
| 14 | g.23415488G>A | CA389036790 | MHRT,MYH7 | c.5176C>T (p.Gln1726Ter) n.39G>A | COSMIC |
| 14 | g.23415488G>C | CA389036791 | MHRT,MYH7 | c.5176C>G (p.Gln1726Glu) n.39G>C | |
| 14 | g.23415488G>T | CA389036792 | MHRT,MYH7 | c.5176C>A (p.Gln1726Lys) n.39G>T | |
| 14 | g.23415489G>A | CA485765931 | MHRT,MYH7 | c.5175C>T (p.Asn1725=) n.40G>A | dbSNP gnomAD v4 |
| 14 | g.23415489G>C | CA389036793 | MHRT,MYH7 | c.5175C>G (p.Asn1725Lys) n.40G>C | |
| 14 | g.23415489G= | CA2123463434 | MHRT,MYH7 | c.5175C= (p.Asn1725=) n.40G= | |
| 14 | g.23415489G>T | CA389036794 | MHRT,MYH7 | c.5175C>A (p.Asn1725Lys) n.40G>T | |
| 14 | g.23415490_23415492del | CA2580087935 | MHRT,MYH7 | c.5173_5175del (p.Asn1725del) n.41_43del | ClinVar |
| 14 | g.23415490T>A | CA389036795 | MHRT,MYH7 | c.5174A>T (p.Asn1725Ile) n.41T>A | |
| 14 | g.23415490T>C | CA389036796 | MHRT,MYH7 | c.5174A>G (p.Asn1725Ser) n.41T>C | |
| 14 | g.23415490T>G | CA389036797 | MHRT,MYH7 | c.5174A>C (p.Asn1725Thr) n.41T>G | gnomAD v4 |
| 14 | g.23415490_23415493delinsTTGA | CA2123463437 | MHRT,MYH7 | c.5171_5174delinsTCAA (p.Ile1724=) n.41_44delinsTTGA | |
| 14 | g.23415491T>A | CA389036798 | MHRT,MYH7 | c.5173A>T (p.Asn1725Tyr) n.42T>A | |
| 14 | g.23415491T>C | CA389036799 | MHRT,MYH7 | c.5173A>G (p.Asn1725Asp) n.42T>C | |
| 14 | g.23415491T>G | CA389036800 | MHRT,MYH7 | c.5173A>C (p.Asn1725His) n.42T>G | |
| 14 | g.23415494_23415496del | CA10607095 | MHRT,MYH7 | c.5171_5173del (p.Ile1724del) n.45_47del | ClinVar dbSNP |
| 14 | g.23415492G>A | CA485765936 | MHRT,MYH7 | c.5172C>T (p.Ile1724=) n.43G>A | dbSNP gnomAD v4 |
| 14 | g.23415492G>C | CA389036801 | MHRT,MYH7 | c.5172C>G (p.Ile1724Met) n.43G>C | dbSNP gnomAD v4 |
| 14 | g.23415492G= | CA2123463446 | MHRT,MYH7 | c.5172C= (p.Ile1724=) n.43G= | |
| 14 | g.23415492G>T | CA485765934 | MHRT,MYH7 | c.5172C>A (p.Ile1724=) n.43G>T | |
| 14 | g.23415493A= | CA2123463449 | MHRT,MYH7 | c.5171T= (p.Ile1724=) n.44A= | |
| 14 | g.23415493A>C | CA389036802 | MHRT,MYH7 | c.5171T>G (p.Ile1724Ser) n.44A>C | |
| 14 | g.23415493A>G | CA389036803 | MHRT,MYH7 | c.5171T>C (p.Ile1724Thr) n.44A>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23415493A>T | CA389036804 | MHRT,MYH7 | c.5171T>A (p.Ile1724Asn) n.44A>T | |
| 14 | g.23415494T>A | CA389036805 | MHRT,MYH7 | c.5170A>T (p.Ile1724Phe) n.45T>A | |
| 14 | g.23415494T>C | CA389036806 | MHRT,MYH7 | c.5170A>G (p.Ile1724Val) n.45T>C | |
| 14 | g.23415494T>G | CA389036807 | MHRT,MYH7 | c.5170A>C (p.Ile1724Leu) n.45T>G | gnomAD v4 |
| 14 | g.23415495G>A | CA485765946 | MHRT,MYH7 | c.5169C>T (p.Leu1723=) n.46G>A | gnomAD v4 |
| 14 | g.23415495G>C | CA485765947 | MHRT,MYH7 | c.5169C>G (p.Leu1723=) n.46G>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23415495G= | CA2123463457 | MHRT,MYH7 | c.5169C= (p.Leu1723=) n.46G= | |
| 14 | g.23415495G>T | CA485765949 | MHRT,MYH7 | c.5169C>A (p.Leu1723=) n.46G>T | dbSNP |
| 14 | g.23415496A>C | CA389036808 | MHRT,MYH7 | c.5168T>G (p.Leu1723Arg) n.47A>C | |
| 14 | g.23415496A>G | CA389036809 | MHRT,MYH7 | c.5168T>C (p.Leu1723Pro) n.47A>G | |
| 14 | g.23415496A>T | CA389036810 | MHRT,MYH7 | c.5168T>A (p.Leu1723His) n.47A>T | |
| 14 | g.23415497G>A | CA389036811 | MHRT,MYH7 | c.5167C>T (p.Leu1723Phe) n.48G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23415497G>C | CA389036812 | MHRT,MYH7 | c.5167C>G (p.Leu1723Val) n.48G>C | |
| 14 | g.23415497G= | CA2123463471 | MHRT,MYH7 | c.5167C= (p.Leu1723=) n.48G= | |
| 14 | g.23415497G>T | CA389036813 | MHRT,MYH7 | c.5167C>A (p.Leu1723Ile) n.48G>T | COSMIC |
| 14 | g.23415498G>A | CA485765961 | MHRT,MYH7 | c.5166C>T (p.Ser1722=) n.49G>A | |
| 14 | g.23415498G>C | CA389036815 | MHRT,MYH7 | c.5166C>G (p.Ser1722Arg) n.49G>C | |
| 14 | g.23415498G>T | CA389036814 | MHRT,MYH7 | c.5166C>A (p.Ser1722Arg) n.49G>T | |
| 14 | g.23415499C>A | CA389036816 | MHRT,MYH7 | c.5165G>T (p.Ser1722Ile) n.50C>A | |
| 14 | g.23415499C>G | CA389036817 | MHRT,MYH7 | c.5165G>C (p.Ser1722Thr) n.50C>G | |
| 14 | g.23415499C>T | CA389036818 | MHRT,MYH7 | c.5165G>A (p.Ser1722Asn) n.50C>T | |
| 14 | g.23415500T>A | CA389036819 | MHRT,MYH7 | c.5164A>T (p.Ser1722Cys) n.51T>A | |
| 14 | g.23415500T>C | CA389036820 | MHRT,MYH7 | c.5164A>G (p.Ser1722Gly) n.51T>C | |
| 14 | g.23415500T>G | CA389036821 | MHRT,MYH7 | c.5164A>C (p.Ser1722Arg) n.51T>G | |
| 14 | g.23415501G>A | CA045648 | MHRT,MYH7 | c.5163C>T (p.Thr1721=) n.52G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415501G>C | CA485765978 | MHRT,MYH7 | c.5163C>G (p.Thr1721=) n.52G>C | |
| 14 | g.23415501G= | CA2123463475 | MHRT,MYH7 | c.5163C= (p.Thr1721=) n.52G= | |
| 14 | g.23415501G>T | CA485765974 | MHRT,MYH7 | c.5163C>A (p.Thr1721=) n.52G>T | |
| 14 | g.23415502G>A | CA389036822 | MHRT,MYH7 | c.5162C>T (p.Thr1721Ile) n.52+1G>A | |
| 14 | g.23415502G>C | CA389036823 | MHRT,MYH7 | c.5162C>G (p.Thr1721Ser) n.52+1G>C | |
| 14 | g.23415502G>T | CA389036824 | MHRT,MYH7 | c.5162C>A (p.Thr1721Asn) n.52+1G>T | |
| 14 | g.23415503T>A | CA389036825 | MHRT,MYH7 | c.5161A>T (p.Thr1721Ser) n.52+2T>A | |
| 14 | g.23415503T>C | CA389036826 | MHRT,MYH7 | c.5161A>G (p.Thr1721Ala) n.52+2T>C | |
| 14 | g.23415503T>G | CA389036827 | MHRT,MYH7 | c.5161A>C (p.Thr1721Pro) n.52+2T>G | dbSNP |
| 14 | g.23415503T= | CA2123463478 | MHRT,MYH7 | c.5161A= (p.Thr1721=) n.52+2T= | |
| 14 | g.23415504G>A | CA045636 | MHRT,MYH7 | c.5160C>T (p.Asn1720=) n.52+3G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23415504G>C | CA389036828 | MHRT,MYH7 | c.5160C>G (p.Asn1720Lys) n.52+3G>C | |
| 14 | g.23415504G= | CA2123463480 | MHRT,MYH7 | c.5160C= (p.Asn1720=) n.52+3G= | |
| 14 | g.23415504G>T | CA389036829 | MHRT,MYH7 | c.5160C>A (p.Asn1720Lys) n.52+3G>T | gnomAD v4 |
| 14 | g.23415505T>A | CA389036830 | MHRT,MYH7 | c.5159A>T (p.Asn1720Ile) n.52+4T>A | dbSNP |
| 14 | g.23415505T>C | CA389036831 | MHRT,MYH7 | c.5159A>G (p.Asn1720Ser) n.52+4T>C | ClinVar |
| 14 | g.23415505T>G | CA389036832 | MHRT,MYH7 | c.5159A>C (p.Asn1720Thr) n.52+4T>G | |
| 14 | g.23415505T= | CA2123463484 | MHRT,MYH7 | c.5159A= (p.Asn1720=) n.52+4T= | |
| 14 | g.23415506T>A | CA389036833 | MHRT,MYH7 | c.5158A>T (p.Asn1720Tyr) n.52+5T>A | |
| 14 | g.23415506T>C | CA389036834 | MHRT,MYH7 | c.5158A>G (p.Asn1720Asp) n.52+5T>C | ClinVar dbSNP |
| 14 | g.23415506T>G | CA389036835 | MHRT,MYH7 | c.5158A>C (p.Asn1720His) n.52+5T>G | |
| 14 | g.23415506T= | CA2123463489 | MHRT,MYH7 | c.5158A= (p.Asn1720=) n.52+5T= | |
| 14 | g.23415507C>A | CA389036836 | MHRT,MYH7 | c.5158-1G>T (n.5158-1G>T) n.52+6C>A | |
| 14 | g.23415507C>G | CA389036837 | MHRT,MYH7 | c.5158-1G>C (n.5158-1G>C) n.52+6C>G | |
| 14 | g.23415507C>T | CA389036838 | MHRT,MYH7 | c.5158-1G>A (n.5158-1G>A) n.52+6C>T | |
| 14 | g.23415512_23415633del | CA2800863665 | MHRT,MYH7 | c.5157+1_5158-1del n.52+11_65del | |
| 14 | g.23415508T>A | CA389036839 | MHRT,MYH7 | c.5158-2A>T (n.5158-2A>T) n.52+7T>A | |
| 14 | g.23415508T>C | CA389036840 | MHRT,MYH7 | c.5158-2A>G (n.5158-2A>G) n.52+7T>C | |
| 14 | g.23415508T>G | CA389036841 | MHRT,MYH7 | c.5158-2A>C (n.5158-2A>C) n.52+7T>G | |
| 14 | g.23415509G>C | CA704283224 | MHRT,MYH7 | c.5158-3C>G (n.5158-3C>G) n.52+8G>C | dbSNP |
| 14 | g.23415509G= | CA2123463495 | MHRT,MYH7 | c.5158-3C= (n.5158-3C=) n.52+8G= | |
| 14 | g.23415509_23415510insCA | CA2521470710 | MHRT,MYH7 | c.5158-4_5158-3insTG (n.5158-4_5158-3insTG) n.52+8_52+9insCA | |
| 14 | g.23415510G>A | CA2624232702 | MHRT,MYH7 | c.5158-4C>T (n.5158-4C>T) n.52+9G>A | gnomAD v4 |
| 14 | g.23415511G>A | CA613317644 | MHRT,MYH7 | c.5158-5C>T (n.5158-5C>T) n.52+10G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23415511G>C | CA613317645 | MHRT,MYH7 | c.5158-5C>G (n.5158-5C>G) n.52+10G>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23415511G= | CA2123463499 | MHRT,MYH7 | c.5158-5C= (n.5158-5C=) n.52+10G= | |
| 14 | g.23415511G>T | CA2624232706 | MHRT,MYH7 | c.5158-5C>A (n.5158-5C>A) n.52+10G>T | gnomAD v4 |
| 14 | g.23415512T>A | CA2123463504 | MHRT,MYH7 | c.5158-6A>T (n.5158-6A>T) n.52+11T>A | dbSNP |
| 14 | g.23415512T>C | CA045618 | MHRT,MYH7 | c.5158-6A>G (n.5158-6A>G) n.52+11T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23415512T>G | CA2123463503 | MHRT,MYH7 | c.5158-6A>C (n.5158-6A>C) n.52+11T>G | dbSNP |
| 14 | g.23415512T= | CA2123463502 | MHRT,MYH7 | c.5158-6A= (n.5158-6A=) n.52+11T= | |
| 14 | g.23415512_23415528del | CA2729046502 | MHRT,MYH7 | c.5158-22_5158-6del (n.5158-22_5158-6del) n.52+11_52+27del | dbSNP |
| 14 | g.23415514G>A | CA2624232711 | MHRT,MYH7 | c.5158-8C>T (n.5158-8C>T) n.52+13G>A | gnomAD v4 |
| 14 | g.23415514G>C | CA2624232732 | MHRT,MYH7 | c.5158-8C>G (n.5158-8C>G) n.52+13G>C | gnomAD v4 |
| 14 | g.23415514G= | CA2123463508 | MHRT,MYH7 | c.5158-8C= (n.5158-8C=) n.52+13G= | |
| 14 | g.23415514G>T | CA915946989 | MHRT,MYH7 | c.5158-8C>A (n.5158-8C>A) n.52+13G>T | ClinVar dbSNP |
| 14 | g.23415515G>A | CA045629 | MHRT,MYH7 | c.5158-9C>T (n.5158-9C>T) n.52+14G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23415515G= | CA2123463511 | MHRT,MYH7 | c.5158-9C= (n.5158-9C=) n.52+14G= | |
| 14 | g.23415516G>A | CA257809558 | MHRT,MYH7 | c.5158-10C>T (n.5158-10C>T) n.52+15G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415516G= | CA2123463515 | MHRT,MYH7 | c.5158-10C= (n.5158-10C=) n.52+15G= | |
| 14 | g.23415517G>A | CA2624232751 | MHRT,MYH7 | c.5158-11C>T (n.5158-11C>T) n.52+16G>A | gnomAD v4 |
| 14 | g.23415518G>A | CA257809560 | MHRT,MYH7 | c.5158-12C>T (n.5158-12C>T) n.52+17G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23415518G= | CA2123463526 | MHRT,MYH7 | c.5158-12C= (n.5158-12C=) n.52+17G= | |
| 14 | g.23415518G>T | CA1139663361 | MHRT,MYH7 | c.5158-12C>A (n.5158-12C>A) n.52+17G>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23415520G>A | CA2624232769 | MHRT,MYH7 | c.5158-14C>T (n.5158-14C>T) n.52+19G>A | ClinVar gnomAD v4 |
| 14 | g.23415521G>A | CA045528 | MHRT,MYH7 | c.5158-15C>T (n.5158-15C>T) n.52+20G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415521G= | CA2123463533 | MHRT,MYH7 | c.5158-15C= (n.5158-15C=) n.52+20G= | |
| 14 | g.23415522G>C | CA2573331879 | MHRT,MYH7 | c.5158-16C>G (n.5158-16C>G) n.52+21G>C | ClinVar |
| 14 | g.23415523T>A | CA2728951991 | MHRT,MYH7 | c.5158-17A>T (n.5158-17A>T) n.52+22T>A | dbSNP |
| 14 | g.23415523T>G | CA2123463539 | MHRT,MYH7 | c.5158-17A>C (n.5158-17A>C) n.52+22T>G | dbSNP |
| 14 | g.23415523T= | CA2123463538 | MHRT,MYH7 | c.5158-17A= (n.5158-17A=) n.52+22T= | |
| 14 | g.23415524T>C | CA961068248 | MHRT,MYH7 | c.5158-18A>G (n.5158-18A>G) n.52+23T>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23415524T>G | CA2624232774 | MHRT,MYH7 | c.5158-18A>C (n.5158-18A>C) n.52+23T>G | gnomAD v4 |
| 14 | g.23415524T= | CA2123463542 | MHRT,MYH7 | c.5158-18A= (n.5158-18A=) n.52+23T= | |
| 14 | g.23415526G>C | CA2624232778 | MHRT,MYH7 | c.5158-20C>G (n.5158-20C>G) n.52+25G>C | gnomAD v4 |
| 14 | g.23415526G= | CA2123463550 | MHRT,MYH7 | c.5158-20C= (n.5158-20C=) n.52+25G= | |
| 14 | g.23415526_23415527insAGTGGGGGACTTACATCCGTGATGGCCTTCTT | CA045536 | MHRT,MYH7 | c.5158-21_5158-20insAAGAAGGCCATCACGGATGTAAGTCCCCCACT (n.5158-21_5158-20insAAGAAGGCCATCACGGATGTAAGTCCCCCACT) n.52+25_52+26insAGTGGGGGACTTACATCCGTGATGGCCTTCTT | dbSNP ExAC |
| 14 | g.23415530G>A | CA2575486312 | MHRT,MYH7 | c.5158-24C>T (n.5158-24C>T) n.52+29G>A | |
| 14 | g.23415532G>A | CA2575486314 | MHRT,MYH7 | c.5158-26C>T (n.5158-26C>T) n.52+31G>A | gnomAD v4 |
| 14 | g.23415536G>A | CA257809576 | MHRT,MYH7 | c.5158-30C>T (n.5158-30C>T) n.52+35G>A | dbSNP gnomAD v4 |
| 14 | g.23415536G= | CA2123463556 | MHRT,MYH7 | c.5158-30C= (n.5158-30C=) n.52+35G= | |
| 14 | g.23415537A= | CA2123463560 | MHRT,MYH7 | c.5158-31T= (n.5158-31T=) n.52+36A= | |
| 14 | g.23415537A>G | CA257809581 | MHRT,MYH7 | c.5158-31T>C (n.5158-31T>C) n.52+36A>G | dbSNP gnomAD v4 |
| 14 | g.23415540A= | CA2123463562 | MHRT,MYH7 | c.5158-34T= (n.5158-34T=) n.52+39A= | |
| 14 | g.23415540A>G | CA045551 | MHRT,MYH7 | c.5158-34T>C (n.5158-34T>C) n.52+39A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23415541G>A | CA045566 | MHRT,MYH7 | c.5158-35C>T (n.5158-35C>T) n.52+40G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415541G>C | CA2123463568 | MHRT,MYH7 | c.5158-35C>G (n.5158-35C>G) n.52+40G>C | dbSNP gnomAD v4 |
| 14 | g.23415541G= | CA2123463566 | MHRT,MYH7 | c.5158-35C= (n.5158-35C=) n.52+40G= | |
| 14 | g.23415541G>T | CA704283244 | MHRT,MYH7 | c.5158-35C>A (n.5158-35C>A) n.52+40G>T | dbSNP gnomAD v4 |
| 14 | g.23415543A>G | CA2729046615 | MHRT,MYH7 | c.5158-37T>C (n.5158-37T>C) n.52+42A>G | dbSNP |
| 14 | g.23415544T>A | CA613317646 | MHRT,MYH7 | c.5158-38A>T (n.5158-38A>T) n.52+43T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415544T>C | CA045580 | MHRT,MYH7 | c.5158-38A>G (n.5158-38A>G) n.52+43T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415544T= | CA2123463570 | MHRT,MYH7 | c.5158-38A= (n.5158-38A=) n.52+43T= | |
| 14 | g.23415547A= | CA2123463572 | MHRT,MYH7 | c.5158-41T= (n.5158-41T=) n.52+46A= | |
| 14 | g.23415547A>G | CA045586 | MHRT,MYH7 | c.5158-41T>C (n.5158-41T>C) n.52+46A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415549C>T | CA2624232802 | MHRT,MYH7 | c.5158-43G>A (n.5158-43G>A) n.52+48C>T | dbSNP gnomAD v4 |
| 14 | g.23415550A= | CA2123463576 | MHRT,MYH7 | c.5158-44T= (n.5158-44T=) n.52+49A= | |
| 14 | g.23415550A>C | CA2123463592 | MHRT,MYH7 | c.5158-44T>G (n.5158-44T>G) n.52+49A>C | dbSNP gnomAD v4 |
| 14 | g.23415550A>T | CA2539671739 | MHRT,MYH7 | c.5158-44T>A (n.5158-44T>A) n.52+49A>T | gnomAD v4 |
| 14 | g.23415550_23415551insGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGG | CA045592 | MHRT,MYH7 | c.5158-45_5158-44insCCATGTGCCACCTCTCTCCTGCACACAGGCCGCCATGATGGCAGAGGAGCTGAAGAAGGAGCAGGACACC (n.5158-45_5158-44insCCATGTGCCACCTCTCTCCTGCACACAGGCCGCCATGATGGCAGAGGAGCTGAAGAAGGAGCAGGACACC) n.52+49_52+50insGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGG | ExAC |
| 14 | g.23415551T>C | CA961068256 | MHRT,MYH7 | c.5158-45A>G (n.5158-45A>G) n.52+50T>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23415551T>G | CA045606 | MHRT,MYH7 | c.5158-45A>C (n.5158-45A>C) n.52+50T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415551T= | CA2123463599 | MHRT,MYH7 | c.5158-45A= (n.5158-45A=) n.52+50T= | |
| 14 | g.23415552C= | CA2123463606 | MHRT,MYH7 | c.5158-46G= (n.5158-46G=) n.52+51C= | |
| 14 | g.23415552C>T | CA2123463608 | MHRT,MYH7 | c.5158-46G>A (n.5158-46G>A) n.52+51C>T | dbSNP gnomAD v4 |
| 14 | g.23415553dup | CA2800863667 | MHRT,MYH7 | c.5158-47dup (n.5158-47dup) n.52+52dup | |
| 14 | g.23415554A= | CA2123463612 | MHRT,MYH7 | c.5158-48T= (n.5158-48T=) n.52+53A= | |
| 14 | g.23415554A>G | CA045610 | MHRT,MYH7 | c.5158-48T>C (n.5158-48T>C) n.52+53A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415555T>C | CA2624232818 | MHRT,MYH7 | c.5158-49A>G (n.5158-49A>G) n.52+54T>C | gnomAD v4 |
| 14 | g.23415556G>A | CA2624232837 | MHRT,MYH7 | c.5158-50C>T (n.5158-50C>T) n.52+55G>A | gnomAD v4 |
| 14 | g.23415556G>T | CA2624232839 | MHRT,MYH7 | c.5158-50C>A (n.5158-50C>A) n.52+55G>T | gnomAD v4 |
| 14 | g.23415557C>A | CA2624232844 | MHRT,MYH7 | c.5158-51G>T (n.5158-51G>T) n.52+56C>A | gnomAD v4 |
| 14 | g.23415557C>T | CA2624232849 | MHRT,MYH7 | c.5158-51G>A (n.5158-51G>A) n.52+56C>T | gnomAD v4 |
| 14 | g.23415559T>C | CA2123463616 | MHRT,MYH7 | c.5158-53A>G (n.5158-53A>G) n.52+58T>C | dbSNP gnomAD v4 |
| 14 | g.23415559T= | CA2123463617 | MHRT,MYH7 | c.5158-53A= (n.5158-53A=) n.52+58T= | |
| 14 | g.23415562C= | CA2123463620 | MHRT,MYH7 | c.5158-56G= (n.5158-56G=) n.53-59C= | |
| 14 | g.23415562C>T | CA257809613 | MHRT,MYH7 | c.5158-56G>A (n.5158-56G>A) n.53-59C>T | dbSNP gnomAD v4 |
| 14 | g.23415563T>A | CA2499222572 | MHRT,MYH7 | c.5158-57A>T (n.5158-57A>T) n.53-58T>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23415563T>C | CA613317647 | MHRT,MYH7 | c.5158-57A>G (n.5158-57A>G) n.53-58T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415563T= | CA2123463622 | MHRT,MYH7 | c.5158-57A= (n.5158-57A=) n.53-58T= | |
| 14 | g.23415566C= | CA2123463623 | MHRT,MYH7 | c.5158-60G= (n.5158-60G=) n.53-55C= | |
| 14 | g.23415566C>G | CA257809615 | MHRT,MYH7 | c.5158-60G>C (n.5158-60G>C) n.53-55C>G | dbSNP gnomAD v4 COSMIC |
| 14 | g.23415566C>T | CA2123463625 | MHRT,MYH7 | c.5158-60G>A (n.5158-60G>A) n.53-55C>T | dbSNP gnomAD v4 |
| 14 | g.23415570C>A | CA257809616 | MHRT,MYH7 | c.5157+59G>T (n.5157+59G>T) n.53-51C>A | dbSNP gnomAD v4 |
| 14 | g.23415570C= | CA2123463633 | MHRT,MYH7 | c.5157+59G= (n.5157+59G=) n.53-51C= | |
| 14 | g.23415570C>G | CA2575486325 | MHRT,MYH7 | c.5157+59G>C (n.5157+59G>C) n.53-51C>G | dbSNP gnomAD v4 |
| 14 | g.23415570C>T | CA2624232867 | MHRT,MYH7 | c.5157+59G>A (n.5157+59G>A) n.53-51C>T | gnomAD v4 |
| 14 | g.23415571C>T | CA2566003911 | MHRT,MYH7 | c.5157+58G>A (n.5157+58G>A) n.53-50C>T | gnomAD v4 |
| 14 | g.23415573T>G | CA2123463643 | MHRT,MYH7 | c.5157+56A>C (n.5157+56A>C) n.53-48T>G | dbSNP |
| 14 | g.23415573T= | CA2123463641 | MHRT,MYH7 | c.5157+56A= (n.5157+56A=) n.53-48T= | |
| 14 | g.23415574G>T | CA2624232869 | MHRT,MYH7 | c.5157+55C>A (n.5157+55C>A) n.53-47G>T | gnomAD v4 |
| 14 | g.23415579C= | CA2123463647 | MHRT,MYH7 | c.5157+50G= (n.5157+50G=) n.53-42C= | |
| 14 | g.23415579C>T | CA613317648 | MHRT,MYH7 | c.5157+50G>A (n.5157+50G>A) n.53-42C>T | dbSNP gnomAD v2 |
| 14 | g.23415581G>A | CA2123463652 | MHRT,MYH7 | c.5157+48C>T (n.5157+48C>T) n.53-40G>A | dbSNP gnomAD v4 |
| 14 | g.23415581G= | CA2123463649 | MHRT,MYH7 | c.5157+48C= (n.5157+48C=) n.53-40G= | |
| 14 | g.23415582A>G | CA2624232873 | MHRT,MYH7 | c.5157+47T>C (n.5157+47T>C) n.53-39A>G | gnomAD v4 |
| 14 | g.23415583G>C | CA613317649 | MHRT,MYH7 | c.5157+46C>G (n.5157+46C>G) n.53-38G>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23415583G= | CA2123463655 | MHRT,MYH7 | c.5157+46C= (n.5157+46C=) n.53-38G= | |
| 14 | g.23415584C= | CA2123463656 | MHRT,MYH7 | c.5157+45G= (n.5157+45G=) n.53-37C= | |
| 14 | g.23415584C>G | CA2123463657 | MHRT,MYH7 | c.5157+45G>C (n.5157+45G>C) n.53-37C>G | dbSNP |
| 14 | g.23415584C>T | CA045493 | MHRT,MYH7 | c.5157+45G>A (n.5157+45G>A) n.53-37C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23415587del | CA2499222573 | MHRT,MYH7 | c.5157+45del (n.5157+45del) n.53-34del | ClinVar dbSNP |
| 14 | g.23415584_23415597delinsCCCCAGCCTGTGCT | CA2123463660 | MHRT,MYH7 | c.5157+32_5157+45delinsAGCACAGGCTGGGG (n.5157+32_5157+45delinsAGCACAGGCTGGGG) n.53-37_53-24delinsCCCCAGCCTGTGCT | |
| 14 | g.23415585C= | CA2123463666 | MHRT,MYH7 | c.5157+44G= (n.5157+44G=) n.53-36C= | |
| 14 | g.23415585C>T | CA045487 | MHRT,MYH7 | c.5157+44G>A (n.5157+44G>A) n.53-36C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23415588_23415600del | CA613317650 | MHRT,MYH7 | c.5157+32_5157+44del (n.5157+32_5157+44del) n.53-33_53-21del | dbSNP gnomAD v2 gnomAD v4 |