Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23415173_23415176delinsTGCA | CA2123462303 | MYH7 | c.5378_5381delinsTGCA (p.Leu1793=) | |
14 | g.23415174G>A | CA389035688 | MYH7 | c.5380C>T (p.Gln1794Ter) | |
14 | g.23415174G>C | CA016040 | MYH7 | c.5380C>G (p.Gln1794Glu) | ClinVar dbSNP |
14 | g.23415174G= | CA2123462313 | MYH7 | c.5380C= (p.Gln1794=) | |
14 | g.23415174G>T | CA016031 | MYH7 | c.5380C>A (p.Gln1794Lys) | ClinVar dbSNP |
14 | g.23415175_23415177del | CA016017 | MYH7 | c.5378_5380del (p.Leu1793del) | ClinVar dbSNP |
14 | g.23415175C>A | CA485766238 | MYH7 | c.5379G>T (p.Leu1793=) | |
14 | g.23415175C>G | CA485766241 | MYH7 | c.5379G>C (p.Leu1793=) | |
14 | g.23415175C>T | CA485766243 | MYH7 | c.5379G>A (p.Leu1793=) | |
14 | g.23415176A= | CA2123462328 | MYH7 | c.5378T= (p.Leu1793=) | |
14 | g.23415176A>C | CA389035689 | MYH7 | c.5378T>G (p.Leu1793Arg) | |
14 | g.23415176A>G | CA016023 | MYH7 | c.5378T>C (p.Leu1793Pro) | ClinVar dbSNP |
14 | g.23415176A>T | CA389035690 | MYH7 | c.5378T>A (p.Leu1793Gln) | |
14 | g.23415177G>A | CA485766245 | MYH7 | c.5377C>T (p.Leu1793=) | |
14 | g.23415177G>C | CA389035691 | MYH7 | c.5377C>G (p.Leu1793Val) | |
14 | g.23415177G>T | CA389035692 | MYH7 | c.5377C>A (p.Leu1793Met) | |
14 | g.23415178G>A | CA485766246 | MYH7 | c.5376C>T (p.Asp1792=) | |
14 | g.23415178G>C | CA389035693 | MYH7 | c.5376C>G (p.Asp1792Glu) | |
14 | g.23415178G>T | CA389035694 | MYH7 | c.5376C>A (p.Asp1792Glu) | |
14 | g.23415179T>A | CA389035695 | MYH7 | c.5375A>T (p.Asp1792Val) | |
14 | g.23415179T>C | CA389035696 | MYH7 | c.5375A>G (p.Asp1792Gly) | |
14 | g.23415179T>G | CA389035697 | MYH7 | c.5375A>C (p.Asp1792Ala) | dbSNP |
14 | g.23415179T= | CA2123462343 | MYH7 | c.5375A= (p.Asp1792=) | |
14 | g.23415180C>A | CA389035698 | MYH7 | c.5374G>T (p.Asp1792Tyr) | |
14 | g.23415180C= | CA2123462348 | MYH7 | c.5374G= (p.Asp1792=) | |
14 | g.23415180C>G | CA389035699 | MYH7 | c.5374G>C (p.Asp1792His) | gnomAD v4 |
14 | g.23415180C>T | CA046609 | MYH7 | c.5374G>A (p.Asp1792Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23415181C>A | CA389035700 | MYH7 | c.5373G>T (p.Lys1791Asn) | |
14 | g.23415181C>G | CA389035701 | MYH7 | c.5373G>C (p.Lys1791Asn) | |
14 | g.23415181C>T | CA485766250 | MYH7 | c.5373G>A (p.Lys1791=) | |
14 | g.23415182T>A | CA389035702 | MYH7 | c.5372A>T (p.Lys1791Met) | |
14 | g.23415182T>C | CA389035703 | MYH7 | c.5372A>G (p.Lys1791Arg) | |
14 | g.23415182T>G | CA389035704 | MYH7 | c.5372A>C (p.Lys1791Thr) | |
14 | g.23415183T>A | CA389035705 | MYH7 | c.5371A>T (p.Lys1791Ter) | |
14 | g.23415183T>C | CA389035706 | MYH7 | c.5371A>G (p.Lys1791Glu) | |
14 | g.23415183T>G | CA389035707 | MYH7 | c.5371A>C (p.Lys1791Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23415183T= | CA2123462355 | MYH7 | c.5371A= (p.Lys1791=) | |
14 | g.23415184A= | CA2123462360 | MYH7 | c.5370T= (p.Ile1790=) | |
14 | g.23415184A>C | CA389035708 | MYH7 | c.5370T>G (p.Ile1790Met) | |
14 | g.23415184A>G | CA485766254 | MYH7 | c.5370T>C (p.Ile1790=) | dbSNP gnomAD v4 |
14 | g.23415184A>T | CA485766255 | MYH7 | c.5370T>A (p.Ile1790=) | |
14 | g.23415185A= | CA2123462363 | MYH7 | c.5369T= (p.Ile1790=) | |
14 | g.23415185A>C | CA389035709 | MYH7 | c.5369T>G (p.Ile1790Ser) | |
14 | g.23415185A>G | CA046595 | MYH7 | c.5369T>C (p.Ile1790Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23415185A>T | CA389035710 | MYH7 | c.5369T>A (p.Ile1790Asn) | |
14 | g.23415186T>A | CA389035711 | MYH7 | c.5368A>T (p.Ile1790Phe) | |
14 | g.23415186T>C | CA389035712 | MYH7 | c.5368A>G (p.Ile1790Val) | ClinVar dbSNP |
14 | g.23415186T>G | CA389035713 | MYH7 | c.5368A>C (p.Ile1790Leu) | |
14 | g.23415187G>A | CA485766262 | MYH7 | c.5367C>T (p.Thr1789=) | ClinVar dbSNP |
14 | g.23415187G>C | CA485766261 | MYH7 | c.5367C>G (p.Thr1789=) | gnomAD v4 |