Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.110919044_110919047del | CA2620917704 | MYL2 | c.93+58_93+61del (n.93+58_93+61del) c.36+58_36+61del (n.36+58_36+61del) n.344_347del | gnomAD v4 |
12 | g.110919045A>T | CA2575293093 | MYL2 | c.93+59T>A (n.93+59T>A) c.36+59T>A (n.36+59T>A) n.345T>A | |
12 | g.110919046G>A | CA2063079008 | MYL2 | c.93+58C>T (n.93+58C>T) c.36+58C>T (n.36+58C>T) n.344C>T | dbSNP gnomAD v4 |
12 | g.110919046G= | CA2063079007 | MYL2 | c.93+58C= (n.93+58C=) c.36+58C= (n.36+58C=) n.344C= | |
12 | g.110919046_110919048del | CA2620917706 | MYL2 | c.93+56_93+58del (n.93+56_93+58del) c.36+56_36+58del (n.36+56_36+58del) n.342_344del | gnomAD v4 |
12 | g.110919047G= | CA2063079010 | MYL2 | c.93+57C= (n.93+57C=) c.36+57C= (n.36+57C=) n.343C= | |
12 | g.110919047G>T | CA683558983 | MYL2 | c.93+57C>A (n.93+57C>A) c.36+57C>A (n.36+57C>A) n.343C>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.110919049T>C | CA2575293094 | MYL2 | c.93+55A>G (n.93+55A>G) c.36+55A>G (n.36+55A>G) n.341A>G | |
12 | g.110919050C>A | CA2575293095 | MYL2 | c.93+54G>T (n.93+54G>T) c.36+54G>T (n.36+54G>T) n.340G>T | |
12 | g.110919050C= | CA2063079012 | MYL2 | c.93+54G= (n.93+54G=) c.36+54G= (n.36+54G=) n.340G= | |
12 | g.110919050C>G | CA2620917707 | MYL2 | c.93+54G>C (n.93+54G>C) c.36+54G>C (n.36+54G>C) n.340G>C | gnomAD v4 |
12 | g.110919050C>T | CA243565446 | MYL2 | c.93+54G>A (n.93+54G>A) c.36+54G>A (n.36+54G>A) n.340G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.110919052C= | CA2063079014 | MYL2 | c.93+52G= (n.93+52G=) c.36+52G= (n.36+52G=) n.338G= | |
12 | g.110919052C>G | CA683558985 | MYL2 | c.93+52G>C (n.93+52G>C) c.36+52G>C (n.36+52G>C) n.338G>C | dbSNP |
12 | g.110919052C>T | CA2063079015 | MYL2 | c.93+52G>A (n.93+52G>A) c.36+52G>A (n.36+52G>A) n.338G>A | dbSNP gnomAD v4 |
12 | g.110919053C>T | CA2575293096 | MYL2 | c.93+51G>A (n.93+51G>A) c.36+51G>A (n.36+51G>A) n.337G>A | |
12 | g.110919054C= | CA2063079017 | MYL2 | c.93+50G= (n.93+50G=) c.36+50G= (n.36+50G=) n.336G= | |
12 | g.110919054C>T | CA043740 | MYL2 | c.93+50G>A (n.93+50G>A) c.36+50G>A (n.36+50G>A) n.336G>A | dbSNP ExAC |
12 | g.110919056C>A | CA2620917708 | MYL2 | c.93+48G>T (n.93+48G>T) c.36+48G>T (n.36+48G>T) n.334G>T | gnomAD v4 |
12 | g.110919056C= | CA2063079020 | MYL2 | c.93+48G= (n.93+48G=) c.36+48G= (n.36+48G=) n.334G= | |
12 | g.110919056C>T | CA043720 | MYL2 | c.93+48G>A (n.93+48G>A) c.36+48G>A (n.36+48G>A) n.334G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110919057G>A | CA043711 | MYL2 | c.93+47C>T (n.93+47C>T) c.36+47C>T (n.36+47C>T) n.333C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110919057G= | CA2063079023 | MYL2 | c.93+47C= (n.93+47C=) c.36+47C= (n.36+47C=) n.333C= | |
12 | g.110919058T>A | CA2727311348 | MYL2 | c.93+46A>T (n.93+46A>T) c.36+46A>T (n.36+46A>T) n.332A>T | dbSNP |
12 | g.110919059G>C | CA951841579 | MYL2 | c.93+45C>G (n.93+45C>G) c.36+45C>G (n.36+45C>G) n.331C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.110919059G= | CA2063079025 | MYL2 | c.93+45C= (n.93+45C=) c.36+45C= (n.36+45C=) n.331C= | |
12 | g.110919059G>T | CA2575293097 | MYL2 | c.93+45C>A (n.93+45C>A) c.36+45C>A (n.36+45C>A) n.331C>A | |
12 | g.110919060G>A | CA607330654 | MYL2 | c.93+44C>T (n.93+44C>T) c.36+44C>T (n.36+44C>T) n.330C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.110919060G= | CA2063079027 | MYL2 | c.93+44C= (n.93+44C=) c.36+44C= (n.36+44C=) n.330C= | |
12 | g.110919061G>A | CA2620917709 | MYL2 | c.93+43C>T (n.93+43C>T) c.36+43C>T (n.36+43C>T) n.329C>T | gnomAD v4 |
12 | g.110919062T>C | CA2063079030 | MYL2 | c.93+42A>G (n.93+42A>G) c.36+42A>G (n.36+42A>G) n.328A>G | dbSNP |
12 | g.110919062T= | CA2063079029 | MYL2 | c.93+42A= (n.93+42A=) c.36+42A= (n.36+42A=) n.328A= | |
12 | g.110919063G>T | CA2575293098 | MYL2 | c.93+41C>A (n.93+41C>A) c.36+41C>A (n.36+41C>A) n.327C>A | |
12 | g.110919064G>C | CA2620917710 | MYL2 | c.93+40C>G (n.93+40C>G) c.36+40C>G (n.36+40C>G) n.326C>G | gnomAD v4 |
12 | g.110919064G>T | CA2575293099 | MYL2 | c.93+40C>A (n.93+40C>A) c.36+40C>A (n.36+40C>A) n.326C>A | |
12 | g.110919065G>T | CA2575293100 | MYL2 | c.93+39C>A (n.93+39C>A) c.36+39C>A (n.36+39C>A) n.325C>A | |
12 | g.110919070C>A | CA2063079033 | MYL2 | c.93+34G>T (n.93+34G>T) c.36+34G>T (n.36+34G>T) n.320G>T | dbSNP |
12 | g.110919070C= | CA2063079032 | MYL2 | c.93+34G= (n.93+34G=) c.36+34G= (n.36+34G=) n.320G= | |
12 | g.110919070C>T | CA2620917711 | MYL2 | c.93+34G>A (n.93+34G>A) c.36+34G>A (n.36+34G>A) n.320G>A | gnomAD v4 |
12 | g.110919071C= | CA2063079034 | MYL2 | c.93+33G= (n.93+33G=) c.36+33G= (n.36+33G=) n.319G= | |
12 | g.110919071C>T | CA2063079035 | MYL2 | c.93+33G>A (n.93+33G>A) c.36+33G>A (n.36+33G>A) n.319G>A | dbSNP gnomAD v4 |
12 | g.110919072A= | CA2063079036 | MYL2 | c.93+32T= (n.93+32T=) c.36+32T= (n.36+32T=) n.318T= | |
12 | g.110919072A>C | CA043702 | MYL2 | c.93+32T>G (n.93+32T>G) c.36+32T>G (n.36+32T>G) n.318T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110919072A>G | CA2602561409 | MYL2 | c.93+32T>C (n.93+32T>C) c.36+32T>C (n.36+32T>C) n.318T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.110919075C= | CA2063079037 | MYL2 | c.93+29G= (n.93+29G=) c.36+29G= (n.36+29G=) n.315G= | |
12 | g.110919075C>T | CA607330657 | MYL2 | c.93+29G>A (n.93+29G>A) c.36+29G>A (n.36+29G>A) n.315G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110919077G>T | CA2575293101 | MYL2 | c.93+27C>A (n.93+27C>A) c.36+27C>A (n.36+27C>A) n.313C>A | |
12 | g.110919078del | CA2620917712 | MYL2 | c.93+27del (n.93+27del) c.36+27del (n.36+27del) n.313del | gnomAD v4 |
12 | g.110919079_110919080del | CA043650 | MYL2 | c.93+25_93+26del (n.93+25_93+26del) c.36+25_36+26del (n.36+25_36+26del) n.311_312del | |
12 | g.110919079C= | CA2063079040 | MYL2 | c.93+25G= (n.93+25G=) c.36+25G= (n.36+25G=) n.311G= | |
12 | g.110919079C>T | CA6788121 | MYL2 | c.93+25G>A (n.93+25G>A) c.36+25G>A (n.36+25G>A) n.311G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110919079_110919080delinsCG | CA2063079039 | MYL2 | c.93+24_93+25delinsCG (n.93+24_93+25delinsCG) c.36+24_36+25delinsCG (n.36+24_36+25delinsCG) n.310_311delinsCG | |
12 | g.110919080G>A | CA043679 | MYL2 | c.93+24C>T (n.93+24C>T) c.36+24C>T (n.36+24C>T) n.310C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.110919080G= | CA2063079045 | MYL2 | c.93+24C= (n.93+24C=) c.36+24C= (n.36+24C=) n.310C= | |
12 | g.110919080G>T | CA2575293102 | MYL2 | c.93+24C>A (n.93+24C>A) c.36+24C>A (n.36+24C>A) n.310C>A | gnomAD v4 |
12 | g.110919081del | CA6788122 | MYL2 | c.93+24del (n.93+24del) c.36+24del (n.36+24del) n.310del | dbSNP ExAC gnomAD v2 |
12 | g.110919081G= | CA2063079048 | MYL2 | c.93+23C= (n.93+23C=) c.36+23C= (n.36+23C=) n.309C= | |
12 | g.110919081G>T | CA043634 | MYL2 | c.93+23C>A (n.93+23C>A) c.36+23C>A (n.36+23C>A) n.309C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110919082A= | CA2063079050 | MYL2 | c.93+22T= (n.93+22T=) c.36+22T= (n.36+22T=) n.308T= | |
12 | g.110919082A>G | CA243565523 | MYL2 | c.93+22T>C (n.93+22T>C) c.36+22T>C (n.36+22T>C) n.308T>C | dbSNP gnomAD v4 |
12 | g.110919087T>A | CA243565527 | MYL2 | c.93+17A>T (n.93+17A>T) c.36+17A>T (n.36+17A>T) n.303A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110919087T= | CA2063079052 | MYL2 | c.93+17A= (n.93+17A=) c.36+17A= (n.36+17A=) n.303A= | |
12 | g.110919088del | CA2575293103 | MYL2 | c.93+16del (n.93+16del) c.36+16del (n.36+16del) n.302del | |
12 | g.110919088C>A | CA2620917713 | MYL2 | c.93+16G>T (n.93+16G>T) c.36+16G>T (n.36+16G>T) n.302G>T | gnomAD v4 |
12 | g.110919089A= | CA2063079054 | MYL2 | c.93+15T= (n.93+15T=) c.36+15T= (n.36+15T=) n.301T= | |
12 | g.110919089A>G | CA043623 | MYL2 | c.93+15T>C (n.93+15T>C) c.36+15T>C (n.36+15T>C) n.301T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110919090A= | CA2063079056 | MYL2 | c.93+14T= (n.93+14T=) c.36+14T= (n.36+14T=) n.300T= | |
12 | g.110919090A>C | CA2697551525 | MYL2 | c.93+14T>G (n.93+14T>G) c.36+14T>G (n.36+14T>G) n.300T>G | ClinVar |
12 | g.110919090A>T | CA2063079057 | MYL2 | c.93+14T>A (n.93+14T>A) c.36+14T>A (n.36+14T>A) n.300T>A | dbSNP |
12 | g.110919091T>C | CA043611 | MYL2 | c.93+13A>G (n.93+13A>G) c.36+13A>G (n.36+13A>G) n.299A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110919091T= | CA2063079062 | MYL2 | c.93+13A= (n.93+13A=) c.36+13A= (n.36+13A=) n.299A= | |
12 | g.110919093G>A | CA607330664 | MYL2 | c.93+11C>T (n.93+11C>T) c.36+11C>T (n.36+11C>T) n.297C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.110919093G>C | CA2063079066 | MYL2 | c.93+11C>G (n.93+11C>G) c.36+11C>G (n.36+11C>G) n.297C>G | ClinVar dbSNP gnomAD v4 |
12 | g.110919093G= | CA2063079065 | MYL2 | c.93+11C= (n.93+11C=) c.36+11C= (n.36+11C=) n.297C= | |
12 | g.110919093G>T | CA2575293104 | MYL2 | c.93+11C>A (n.93+11C>A) c.36+11C>A (n.36+11C>A) n.297C>A | |
12 | g.110919095T>C | CA043755 | MYL2 | c.93+9A>G (n.93+9A>G) c.36+9A>G (n.36+9A>G) n.295A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110919095T>G | CA2575293105 | MYL2 | c.93+9A>C (n.93+9A>C) c.36+9A>C (n.36+9A>C) n.295A>C | gnomAD v4 |
12 | g.110919095T= | CA2063079068 | MYL2 | c.93+9A= (n.93+9A=) c.36+9A= (n.36+9A=) n.295A= | |
12 | g.110919096G>A | CA2620917714 | MYL2 | c.93+8C>T (n.93+8C>T) c.36+8C>T (n.36+8C>T) n.294C>T | gnomAD v4 |
12 | g.110919096G>T | CA2575293106 | MYL2 | c.93+8C>A (n.93+8C>A) c.36+8C>A (n.36+8C>A) n.294C>A | |
12 | g.110919097C>T | CA2620917715 | MYL2 | c.93+7G>A (n.93+7G>A) c.36+7G>A (n.36+7G>A) n.293G>A | gnomAD v4 |
12 | g.110919099C= | CA2063079071 | MYL2 | c.93+5G= (n.93+5G=) c.36+5G= (n.36+5G=) n.291G= | |
12 | g.110919099C>T | CA1139662880 | MYL2 | c.93+5G>A (n.93+5G>A) c.36+5G>A (n.36+5G>A) n.291G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.110919100C= | CA2063079075 | MYL2 | c.93+4G= (n.93+4G=) c.36+4G= (n.36+4G=) n.290G= | |
12 | g.110919100C>G | CA951841584 | MYL2 | c.93+4G>C (n.93+4G>C) c.36+4G>C (n.36+4G>C) n.290G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.110919100C>T | CA607330666 | MYL2 | c.93+4G>A (n.93+4G>A) c.36+4G>A (n.36+4G>A) n.290G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.110919101C= | CA2063079077 | MYL2 | c.93+3G= (n.93+3G=) c.36+3G= (n.36+3G=) n.289G= | |
12 | g.110919101C>G | CA243565541 | MYL2 | c.93+3G>C (n.93+3G>C) c.36+3G>C (n.36+3G>C) n.289G>C | dbSNP gnomAD v4 |
12 | g.110919101C>T | CA2063079079 | MYL2 | c.93+3G>A (n.93+3G>A) c.36+3G>A (n.36+3G>A) n.289G>A | dbSNP |
12 | g.110919102A= | CA2063079081 | MYL2 | c.93+2T= (n.93+2T=) c.36+2T= (n.36+2T=) n.288T= | |
12 | g.110919102A>C | CA386700182 | MYL2 | c.93+2T>G (n.93+2T>G) c.36+2T>G (n.36+2T>G) n.288T>G | |
12 | g.110919102A>G | CA243565542 | MYL2 | c.93+2T>C (n.93+2T>C) c.36+2T>C (n.36+2T>C) n.288T>C | dbSNP |
12 | g.110919102A>T | CA243565543 | MYL2 | c.93+2T>A (n.93+2T>A) c.36+2T>A (n.36+2T>A) n.288T>A | dbSNP |
12 | g.110919102_110919105delinsACCT | CA2063079083 | MYL2 | c.92_93+2delinsAGGT c.35_36+2delinsAGGT n.285_288delinsAGGT | |
12 | g.110919102_110919114delinsACCTCCTTAAATT | CA2063079084 | MYL2 | c.83_93+2delinsAATTTAAGGAGGT c.26_36+2delinsAATTTAAGGAGGT n.276_288delinsAATTTAAGGAGGT | |
12 | g.110919103C>A | CA386700183 | MYL2 | c.93+1G>T (n.93+1G>T) c.36+1G>T (n.36+1G>T) n.287G>T | |
12 | g.110919103C= | CA2063079090 | MYL2 | c.93+1G= (n.93+1G=) c.36+1G= (n.36+1G=) n.287G= | |
12 | g.110919103C>G | CA386700184 | MYL2 | c.93+1G>C (n.93+1G>C) c.36+1G>C (n.36+1G>C) n.287G>C | dbSNP |
12 | g.110919103C>T | CA386700185 | MYL2 | c.93+1G>A (n.93+1G>A) c.36+1G>A (n.36+1G>A) n.287G>A | ClinVar dbSNP gnomAD v4 |
12 | g.110919106_110919108del | CA6788123 | MYL2 | c.92_93+1del c.35_36+1del n.285_287del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110919106_110919117del | CA607330668 | MYL2 | c.83_93+1del c.26_36+1del n.276_287del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110919104C>A | CA386700186 | MYL2 | c.93G>T (p.Glu31Asp) c.36G>T (p.Glu12Asp) n.286G>T | |
12 | g.110919104C>G | CA386700187 | MYL2 | c.93G>C (p.Glu31Asp) c.36G>C (p.Glu12Asp) n.286G>C | |
12 | g.110919104C>T | CA481751290 | MYL2 | c.93G>A (p.Glu31=) c.36G>A (p.Glu12=) n.286G>A | |
12 | g.110919104_110919113delinsCTCCTTAAAT | CA2063079091 | MYL2 | c.84_93delinsATTTAAGGAG (p.Glu28=) c.27_36delinsATTTAAGGAG (p.Glu9=) n.277_286delinsATTTAAGGAG | |
12 | g.110919105T>A | CA386700188 | MYL2 | c.92A>T (p.Glu31Val) c.35A>T (p.Glu12Val) n.285A>T | |
12 | g.110919105T>C | CA386700189 | MYL2 | c.92A>G (p.Glu31Gly) c.35A>G (p.Glu12Gly) n.285A>G | ClinVar dbSNP gnomAD v4 |
12 | g.110919105T>G | CA386700190 | MYL2 | c.92A>C (p.Glu31Ala) c.35A>C (p.Glu12Ala) n.285A>C | |
12 | g.110919109_110919117del | CA2063079092 | MYL2 | c.84_92del (p.Phe29_Glu31del) c.27_35del (p.Phe10_Glu12del) n.277_285del | dbSNP |
12 | g.110919106C>A | CA386700191 | MYL2 | c.91G>T (p.Glu31Ter) c.34G>T (p.Glu12Ter) n.284G>T | |
12 | g.110919106C>G | CA386700192 | MYL2 | c.91G>C (p.Glu31Gln) c.34G>C (p.Glu12Gln) n.284G>C | |
12 | g.110919106C>T | CA386700193 | MYL2 | c.91G>A (p.Glu31Lys) c.34G>A (p.Glu12Lys) n.284G>A | |
12 | g.110919107C>A | CA386700194 | MYL2 | c.90G>T (p.Lys30Asn) c.33G>T (p.Lys11Asn) n.283G>T | |
12 | g.110919107C>G | CA386700195 | MYL2 | c.90G>C (p.Lys30Asn) c.33G>C (p.Lys11Asn) n.283G>C | |
12 | g.110919107C>T | CA481751291 | MYL2 | c.90G>A (p.Lys30=) c.33G>A (p.Lys11=) n.283G>A | |
12 | g.110919108T>A | CA386700198 | MYL2 | c.89A>T (p.Lys30Met) c.32A>T (p.Lys11Met) n.282A>T | |
12 | g.110919108T>C | CA386700197 | MYL2 | c.89A>G (p.Lys30Arg) c.32A>G (p.Lys11Arg) n.282A>G | |
12 | g.110919108T>G | CA386700196 | MYL2 | c.89A>C (p.Lys30Thr) c.32A>C (p.Lys11Thr) n.282A>C | |
12 | g.110919109T>A | CA386700199 | MYL2 | c.88A>T (p.Lys30Ter) c.31A>T (p.Lys11Ter) n.281A>T | |
12 | g.110919109T>C | CA386700200 | MYL2 | c.88A>G (p.Lys30Glu) c.31A>G (p.Lys11Glu) n.281A>G | |
12 | g.110919109T>G | CA386700201 | MYL2 | c.88A>C (p.Lys30Gln) c.31A>C (p.Lys11Gln) n.281A>C | COSMIC |
12 | g.110919110A= | CA2063079093 | MYL2 | c.87T= (p.Phe29=) c.30T= (p.Phe10=) n.280T= | |
12 | g.110919110A>C | CA386700202 | MYL2 | c.87T>G (p.Phe29Leu) c.30T>G (p.Phe10Leu) n.280T>G | |
12 | g.110919110A>G | CA481751296 | MYL2 | c.87T>C (p.Phe29=) c.30T>C (p.Phe10=) n.280T>C | dbSNP |
12 | g.110919110A>T | CA386700203 | MYL2 | c.87T>A (p.Phe29Leu) c.30T>A (p.Phe10Leu) n.280T>A | |
12 | g.110919111A>C | CA386700204 | MYL2 | c.86T>G (p.Phe29Cys) c.29T>G (p.Phe10Cys) n.279T>G | COSMIC |
12 | g.110919111A>G | CA386700205 | MYL2 | c.86T>C (p.Phe29Ser) c.29T>C (p.Phe10Ser) n.279T>C | |
12 | g.110919111A>T | CA386700206 | MYL2 | c.86T>A (p.Phe29Tyr) c.29T>A (p.Phe10Tyr) n.279T>A | |
12 | g.110919112A= | CA2063079095 | MYL2 | c.85T= (p.Phe29=) c.28T= (p.Phe10=) n.278T= | |
12 | g.110919112A>C | CA386700207 | MYL2 | c.85T>G (p.Phe29Val) c.28T>G (p.Phe10Val) n.278T>G | |
12 | g.110919112A>G | CA386700208 | MYL2 | c.85T>C (p.Phe29Leu) c.28T>C (p.Phe10Leu) n.278T>C | |
12 | g.110919112A>T | CA243565548 | MYL2 | c.85T>A (p.Phe29Ile) c.28T>A (p.Phe10Ile) n.278T>A | dbSNP |
12 | g.110919113T>A | CA010541 | MYL2 | c.84A>T (p.Glu28Asp) c.27A>T (p.Glu9Asp) n.277A>T | ClinVar dbSNP |
12 | g.110919113T>C | CA481751298 | MYL2 | c.84A>G (p.Glu28=) c.27A>G (p.Glu9=) n.277A>G | dbSNP gnomAD v4 |
12 | g.110919113T>G | CA386700209 | MYL2 | c.84A>C (p.Glu28Asp) c.27A>C (p.Glu9Asp) n.277A>C | ClinVar |
12 | g.110919113T= | CA2063079096 | MYL2 | c.84A= (p.Glu28=) c.27A= (p.Glu9=) n.277A= | |
12 | g.110919114T>A | CA386700212 | MYL2 | c.83A>T (p.Glu28Val) c.26A>T (p.Glu9Val) n.276A>T | |
12 | g.110919114T>C | CA386700211 | MYL2 | c.83A>G (p.Glu28Gly) c.26A>G (p.Glu9Gly) n.276A>G | ClinVar dbSNP |
12 | g.110919114T>G | CA386700210 | MYL2 | c.83A>C (p.Glu28Ala) c.26A>C (p.Glu9Ala) n.276A>C | |
12 | g.110919114T= | CA2063079097 | MYL2 | c.83A= (p.Glu28=) c.26A= (p.Glu9=) n.276A= | |
12 | g.110919115C>A | CA386700213 | MYL2 | c.82G>T (p.Glu28Ter) c.25G>T (p.Glu9Ter) n.275G>T | |
12 | g.110919115C= | CA2063079102 | MYL2 | c.82G= (p.Glu28=) c.25G= (p.Glu9=) n.275G= | |
12 | g.110919115C>G | CA386700214 | MYL2 | c.82G>C (p.Glu28Gln) c.25G>C (p.Glu9Gln) n.275G>C | |
12 | g.110919115C>T | CA010532 | MYL2 | c.82G>A (p.Glu28Lys) c.25G>A (p.Glu9Lys) n.275G>A | ClinVar dbSNP |
12 | g.110919116C>A | CA386700215 | MYL2 | c.81G>T (p.Gln27His) c.24G>T (p.Gln8His) n.274G>T | |
12 | g.110919116C= | CA2063079107 | MYL2 | c.81G= (p.Gln27=) c.24G= (p.Gln8=) n.274G= | |
12 | g.110919116C>G | CA386700216 | MYL2 | c.81G>C (p.Gln27His) c.24G>C (p.Gln8His) n.274G>C | ClinVar dbSNP |
12 | g.110919116C>T | CA481751303 | MYL2 | c.81G>A (p.Gln27=) c.24G>A (p.Gln8=) n.274G>A | |
12 | g.110919117T>A | CA386700217 | MYL2 | c.80A>T (p.Gln27Leu) c.23A>T (p.Gln8Leu) n.273A>T | |
12 | g.110919117T>C | CA010526 | MYL2 | c.80A>G (p.Gln27Arg) c.23A>G (p.Gln8Arg) n.273A>G | ClinVar dbSNP |
12 | g.110919117T>G | CA386700218 | MYL2 | c.80A>C (p.Gln27Pro) c.23A>C (p.Gln8Pro) n.273A>C | |
12 | g.110919117T= | CA2063079109 | MYL2 | c.80A= (p.Gln27=) c.23A= (p.Gln8=) n.273A= | |
12 | g.110919118G>A | CA386700219 | MYL2 | c.79C>T (p.Gln27Ter) c.22C>T (p.Gln8Ter) n.272C>T | |
12 | g.110919118G>C | CA386700220 | MYL2 | c.79C>G (p.Gln27Glu) c.22C>G (p.Gln8Glu) n.272C>G | |
12 | g.110919118G>T | CA386700221 | MYL2 | c.79C>A (p.Gln27Lys) c.22C>A (p.Gln8Lys) n.272C>A | |
12 | g.110919119G>A | CA043568 | MYL2 | c.78C>T (p.Ile26=) c.21C>T (p.Ile7=) n.271C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110919119G>C | CA386700222 | MYL2 | c.78C>G (p.Ile26Met) c.21C>G (p.Ile7Met) n.271C>G | |
12 | g.110919119G= | CA2063079112 | MYL2 | c.78C= (p.Ile26=) c.21C= (p.Ile7=) n.271C= | |
12 | g.110919119G>T | CA481751306 | MYL2 | c.78C>A (p.Ile26=) c.21C>A (p.Ile7=) n.271C>A | |
12 | g.110919120A>C | CA386700225 | MYL2 | c.77T>G (p.Ile26Ser) c.20T>G (p.Ile7Ser) n.270T>G | |
12 | g.110919120A>G | CA386700224 | MYL2 | c.77T>C (p.Ile26Thr) c.20T>C (p.Ile7Thr) n.270T>C | gnomAD v4 |
12 | g.110919120A>T | CA386700223 | MYL2 | c.77T>A (p.Ile26Asn) c.20T>A (p.Ile7Asn) n.270T>A | |
12 | g.110919121T>A | CA386700226 | MYL2 | c.76A>T (p.Ile26Phe) c.19A>T (p.Ile7Phe) n.269A>T | |
12 | g.110919121T>C | CA386700227 | MYL2 | c.76A>G (p.Ile26Val) c.19A>G (p.Ile7Val) n.269A>G | |
12 | g.110919121T>G | CA386700228 | MYL2 | c.76A>C (p.Ile26Leu) c.19A>C (p.Ile7Leu) n.269A>C | |
12 | g.110919122T>A | CA386700229 | MYL2 | c.75A>T (p.Gln25His) c.18A>T (p.Gln6His) n.268A>T | |
12 | g.110919122T>C | CA481751308 | MYL2 | c.75A>G (p.Gln25=) c.18A>G (p.Gln6=) n.268A>G | dbSNP |
12 | g.110919122T>G | CA386700230 | MYL2 | c.75A>C (p.Gln25His) c.18A>C (p.Gln6His) n.268A>C | |
12 | g.110919122T= | CA2063079117 | MYL2 | c.75A= (p.Gln25=) c.18A= (p.Gln6=) n.268A= | |
12 | g.110919123T>A | CA386700231 | MYL2 | c.74A>T (p.Gln25Leu) c.17A>T (p.Gln6Leu) n.267A>T | |
12 | g.110919123T>C | CA386700232 | MYL2 | c.74A>G (p.Gln25Arg) c.17A>G (p.Gln6Arg) n.267A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.110919123T>G | CA386700233 | MYL2 | c.74A>C (p.Gln25Pro) c.17A>C (p.Gln6Pro) n.267A>C | |
12 | g.110919123T= | CA2063079122 | MYL2 | c.74A= (p.Gln25=) c.17A= (p.Gln6=) n.267A= | |
12 | g.110919124G>A | CA386700234 | MYL2 | c.73C>T (p.Gln25Ter) c.16C>T (p.Gln6Ter) n.266C>T | gnomAD v4 |
12 | g.110919124G>C | CA386700235 | MYL2 | c.73C>G (p.Gln25Glu) c.16C>G (p.Gln6Glu) n.266C>G | |
12 | g.110919124G>T | CA386700236 | MYL2 | c.73C>A (p.Gln25Lys) c.16C>A (p.Gln6Lys) n.266C>A | |
12 | g.110919125G>A | CA481751312 | MYL2 | c.72C>T (p.Thr24=) c.15C>T (p.Thr5=) n.265C>T | gnomAD v4 |
12 | g.110919125G>C | CA481751313 | MYL2 | c.72C>G (p.Thr24=) c.15C>G (p.Thr5=) n.265C>G | ClinVar dbSNP |
12 | g.110919125G>T | CA481751315 | MYL2 | c.72C>A (p.Thr24=) c.15C>A (p.Thr5=) n.265C>A | |
12 | g.110919126G>A | CA386700237 | MYL2 | c.71C>T (p.Thr24Ile) c.14C>T (p.Thr5Ile) n.264C>T | ClinVar dbSNP |
12 | g.110919126G>C | CA386700238 | MYL2 | c.71C>G (p.Thr24Ser) c.14C>G (p.Thr5Ser) n.264C>G | |
12 | g.110919126G>T | CA386700239 | MYL2 | c.71C>A (p.Thr24Asn) c.14C>A (p.Thr5Asn) n.264C>A | |
12 | g.110919127T>A | CA386700242 | MYL2 | c.70A>T (p.Thr24Ser) c.13A>T (p.Thr5Ser) n.263A>T | |
12 | g.110919127T>C | CA386700241 | MYL2 | c.70A>G (p.Thr24Ala) c.13A>G (p.Thr5Ala) n.263A>G | dbSNP |
12 | g.110919127T>G | CA386700240 | MYL2 | c.70A>C (p.Thr24Pro) c.13A>C (p.Thr5Pro) n.263A>C | |
12 | g.110919127T= | CA2063079125 | MYL2 | c.70A= (p.Thr24=) c.13A= (p.Thr5=) n.263A= | |
12 | g.110919129_110919133del | CA2695217346 | MYL2 | c.66_70del (p.Glu22AspfsTer7) c.9_13del (p.Glu3AspfsTer7) n.259_263del | |
12 | g.110919128C>A | CA386700243 | MYL2 | c.69G>T (p.Gln23His) c.12G>T (p.Gln4His) n.262G>T | |
12 | g.110919128C= | CA2063079127 | MYL2 | c.69G= (p.Gln23=) c.12G= (p.Gln4=) n.262G= | |
12 | g.110919128C>G | CA386700244 | MYL2 | c.69G>C (p.Gln23His) c.12G>C (p.Gln4His) n.262G>C | |
12 | g.110919128C>T | CA243565571 | MYL2 | c.69G>A (p.Gln23=) c.12G>A (p.Gln4=) n.262G>A | dbSNP |
12 | g.110919129T>A | CA386700245 | MYL2 | c.68A>T (p.Gln23Leu) c.11A>T (p.Gln4Leu) n.261A>T | |
12 | g.110919129T>C | CA386700246 | MYL2 | c.68A>G (p.Gln23Arg) c.11A>G (p.Gln4Arg) n.261A>G | |
12 | g.110919129T>G | CA386700247 | MYL2 | c.68A>C (p.Gln23Pro) c.11A>C (p.Gln4Pro) n.261A>C | |
12 | g.110919130G>A | CA386700248 | MYL2 | c.67C>T (p.Gln23Ter) c.10C>T (p.Gln4Ter) n.260C>T | |
12 | g.110919130G>C | CA386700249 | MYL2 | c.67C>G (p.Gln23Glu) c.10C>G (p.Gln4Glu) n.260C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.110919130G= | CA2063079130 | MYL2 | c.67C= (p.Gln23=) c.10C= (p.Gln4=) n.260C= | |
12 | g.110919130G>T | CA386700250 | MYL2 | c.67C>A (p.Gln23Lys) c.10C>A (p.Gln4Lys) n.260C>A | |
12 | g.110919131T>A | CA386700251 | MYL2 | c.66A>T (p.Glu22Asp) c.9A>T (p.Glu3Asp) n.259A>T | |
12 | g.110919131T>C | CA481751320 | MYL2 | c.66A>G (p.Glu22=) c.9A>G (p.Glu3=) n.259A>G | dbSNP |
12 | g.110919131T>G | CA386700252 | MYL2 | c.66A>C (p.Glu22Asp) c.9A>C (p.Glu3Asp) n.259A>C | |
12 | g.110919131T= | CA2063079133 | MYL2 | c.66A= (p.Glu22=) c.9A= (p.Glu3=) n.259A= | |
12 | g.110919132T>A | CA386700253 | MYL2 | c.65A>T (p.Glu22Val) c.8A>T (p.Glu3Val) n.258A>T | |
12 | g.110919132T>C | CA386700254 | MYL2 | c.65A>G (p.Glu22Gly) c.8A>G (p.Glu3Gly) n.258A>G | |
12 | g.110919132T>G | CA386700255 | MYL2 | c.65A>C (p.Glu22Ala) c.8A>C (p.Glu3Ala) n.258A>C | |
12 | g.110919133C>A | CA010523 | MYL2 | c.64G>T (p.Glu22Ter) c.7G>T (p.Glu3Ter) n.257G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110919133C= | CA2063079144 | MYL2 | c.64G= (p.Glu22=) c.7G= (p.Glu3=) n.257G= | |
12 | g.110919133C>G | CA043539 | MYL2 | c.64G>C (p.Glu22Gln) c.7G>C (p.Glu3Gln) n.257G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110919133C>T | CA010513 | MYL2 | c.64G>A (p.Glu22Lys) c.7G>A (p.Glu3Lys) n.257G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.110919134G>A | CA043510 | MYL2 | c.63C>T (p.Phe21=) c.6C>T (p.Phe2=) n.256C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.110919134G>C | CA386700256 | MYL2 | c.63C>G (p.Phe21Leu) c.6C>G (p.Phe2Leu) n.256C>G | |
12 | g.110919134G= | CA2063079155 | MYL2 | c.63C= (p.Phe21=) c.6C= (p.Phe2=) n.256C= | |
12 | g.110919134G>T | CA386700257 | MYL2 | c.63C>A (p.Phe21Leu) c.6C>A (p.Phe2Leu) n.256C>A | |
12 | g.110919135A>C | CA386700258 | MYL2 | c.62T>G (p.Phe21Cys) c.5T>G (p.Phe2Cys) n.255T>G | |
12 | g.110919135A>G | CA386700259 | MYL2 | c.62T>C (p.Phe21Ser) c.5T>C (p.Phe2Ser) n.255T>C | ClinVar |
12 | g.110919135A>T | CA386700260 | MYL2 | c.62T>A (p.Phe21Tyr) c.5T>A (p.Phe2Tyr) n.255T>A | |
12 | g.110919135_110919146delinsAACATGGAGAAC | CA2063079159 | MYL2 | c.51_62delinsGTTCTCCATGTT (p.Val17=) c.-7_5delinsGTTCTCCATGTT n.244_255delinsGTTCTCCATGTT | |
12 | g.110919136A>C | CA386700261 | MYL2 | c.61T>G (p.Phe21Val) c.4T>G (p.Phe2Val) n.254T>G | ClinVar |
12 | g.110919136A>G | CA386700262 | MYL2 | c.61T>C (p.Phe21Leu) c.4T>C (p.Phe2Leu) n.254T>C | |
12 | g.110919136A>T | CA386700263 | MYL2 | c.61T>A (p.Phe21Ile) c.4T>A (p.Phe2Ile) n.254T>A | |
12 | g.110919138_110919148del | CA043451 | MYL2 | c.51_61del (p.Phe18ArgfsTer9) c.-7_4del n.244_254del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110919137C>A | CA386700264 | MYL2 | c.60G>T (p.Met20Ile) c.3G>T (p.Met1Ile) n.253G>T | |
12 | g.110919137C>G | CA386700265 | MYL2 | c.60G>C (p.Met20Ile) c.3G>C (p.Met1Ile) n.253G>C | |
12 | g.110919137C>T | CA386700266 | MYL2 | c.60G>A (p.Met20Ile) c.3G>A (p.Met1Ile) n.253G>A | |
12 | g.110919138A= | CA2063079167 | MYL2 | c.59T= (p.Met20=) c.2T= (p.Met1=) n.252T= | |
12 | g.110919138A>C | CA386700267 | MYL2 | c.59T>G (p.Met20Arg) c.2T>G (p.Met1Arg) n.252T>G | |
12 | g.110919138A>G | CA243565619 | MYL2 | c.59T>C (p.Met20Thr) c.2T>C (p.Met1Thr) n.252T>C | dbSNP gnomAD v4 |
12 | g.110919138A>T | CA043481 | MYL2 | c.59T>A (p.Met20Lys) c.2T>A (p.Met1Lys) n.252T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110919139T>A | CA386700268 | MYL2 | c.58A>T (p.Met20Leu) c.1A>T (p.Met1Leu) n.251A>T | |
12 | g.110919139T>C | CA043462 | MYL2 | c.58A>G (p.Met20Val) c.1A>G (p.Met1Val) n.251A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110919139T>G | CA010504 | MYL2 | c.58A>C (p.Met20Leu) c.1A>C (p.Met1Leu) n.251A>C | ClinVar dbSNP |
12 | g.110919139T= | CA2063079180 | MYL2 | c.58A= (p.Met20=) c.1A= (p.Met1=) n.251A= | |
12 | g.110919140G>A | CA481751327 | MYL2 | c.57C>T (p.Ser19=) c.-1C>T (n.-1C>T) n.250C>T | |
12 | g.110919140G>C | CA481751328 | MYL2 | c.57C>G (p.Ser19=) c.-1C>G (n.-1C>G) n.250C>G | |
12 | g.110919140G>T | CA481751330 | MYL2 | c.57C>A (p.Ser19=) c.-1C>A (n.-1C>A) n.250C>A | |
12 | g.110919141G>A | CA386700269 | MYL2 | c.56C>T (p.Ser19Phe) c.-2C>T (n.-2C>T) n.249C>T | |
12 | g.110919141G>C | CA386700270 | MYL2 | c.56C>G (p.Ser19Cys) c.-2C>G (n.-2C>G) n.249C>G | ClinVar dbSNP |
12 | g.110919141G= | CA2063079182 | MYL2 | c.56C= (p.Ser19=) c.-2C= (n.-2C=) n.249C= | |
12 | g.110919141G>T | CA386700271 | MYL2 | c.56C>A (p.Ser19Tyr) c.-2C>A (n.-2C>A) n.249C>A | |
12 | g.110919142A>C | CA386700272 | MYL2 | c.55T>G (p.Ser19Ala) c.-3T>G (n.-3T>G) n.248T>G | |
12 | g.110919142A>G | CA386700273 | MYL2 | c.55T>C (p.Ser19Pro) c.-3T>C (n.-3T>C) n.248T>C | |
12 | g.110919142A>T | CA386700274 | MYL2 | c.55T>A (p.Ser19Thr) c.-3T>A (n.-3T>A) n.248T>A | |
12 | g.110919143G>A | CA481751332 | MYL2 | c.54C>T (p.Phe18=) c.-4C>T (n.-4C>T) n.247C>T | |
12 | g.110919143G>C | CA386700275 | MYL2 | c.54C>G (p.Phe18Leu) c.-4C>G (n.-4C>G) n.247C>G | |
12 | g.110919143G>T | CA386700276 | MYL2 | c.54C>A (p.Phe18Leu) c.-4C>A (n.-4C>A) n.247C>A | |
12 | g.110919144A= | CA2063079185 | MYL2 | c.53T= (p.Phe18=) c.-5T= (n.-5T=) n.246T= | |
12 | g.110919144A>C | CA386700277 | MYL2 | c.53T>G (p.Phe18Cys) c.-5T>G (n.-5T>G) n.246T>G | |
12 | g.110919144A>G | CA010495 | MYL2 | c.53T>C (p.Phe18Ser) c.-5T>C (n.-5T>C) n.246T>C | ClinVar dbSNP |
12 | g.110919144A>T | CA386700278 | MYL2 | c.53T>A (p.Phe18Tyr) c.-5T>A (n.-5T>A) n.246T>A | |
12 | g.110919145A= | CA2063079192 | MYL2 | c.52T= (p.Phe18=) c.-6T= (n.-6T=) n.245T= | |
12 | g.110919145A>C | CA386700279 | MYL2 | c.52T>G (p.Phe18Val) c.-6T>G (n.-6T>G) n.245T>G | COSMIC |
12 | g.110919145A>G | CA010488 | MYL2 | c.52T>C (p.Phe18Leu) c.-6T>C (n.-6T>C) n.245T>C | ClinVar dbSNP gnomAD v4 |
12 | g.110919145A>T | CA386700280 | MYL2 | c.52T>A (p.Phe18Ile) c.-6T>A (n.-6T>A) n.245T>A | |
12 | g.110919147_110919148del | CA2620917716 | MYL2 | c.51_52del (p.Phe18LeufsTer12) c.-7_-6del (n.-7_-6del) n.244_245del | gnomAD v4 |