Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.49217755_49221080del | CA916084263 | CACNA1F | c.2290_3089+1del c.2128_2927+1del c.2323_3122+1del | |
X | g.49218426T>G | CA2519234122 | CACNA1F | c.2928+29A>C (n.2928+29A>C) c.2766+29A>C (n.2766+29A>C) c.2961+29A>C (n.2961+29A>C) c.195+29A>C (n.195+29A>C) | |
X | g.49218427C>A | CA2693708667 | CACNA1F | c.2928+28G>T (n.2928+28G>T) c.2766+28G>T (n.2766+28G>T) c.2961+28G>T (n.2961+28G>T) c.195+28G>T (n.195+28G>T) | gnomAD v4 |
X | g.49218427C= | CA2428540354 | CACNA1F | c.2928+28G= (n.2928+28G=) c.2766+28G= (n.2766+28G=) c.2961+28G= (n.2961+28G=) c.195+28G= (n.195+28G=) | |
X | g.49218427C>T | CA1132997610 | CACNA1F | c.2928+28G>A (n.2928+28G>A) c.2766+28G>A (n.2766+28G>A) c.2961+28G>A (n.2961+28G>A) c.195+28G>A (n.195+28G>A) | dbSNP |
X | g.49218428C>A | CA2572367758 | CACNA1F | c.2928+27G>T (n.2928+27G>T) c.2766+27G>T (n.2766+27G>T) c.2961+27G>T (n.2961+27G>T) c.195+27G>T (n.195+27G>T) | gnomAD v4 |
X | g.49218428C= | CA2428540355 | CACNA1F | c.2928+27G= (n.2928+27G=) c.2766+27G= (n.2766+27G=) c.2961+27G= (n.2961+27G=) c.195+27G= (n.195+27G=) | |
X | g.49218428C>G | CA2820835690 | CACNA1F | c.2928+27G>C (n.2928+27G>C) c.2766+27G>C (n.2766+27G>C) c.2961+27G>C (n.2961+27G>C) c.195+27G>C (n.195+27G>C) | |
X | g.49218428C>T | CA10410580 | CACNA1F | c.2928+27G>A (n.2928+27G>A) c.2766+27G>A (n.2766+27G>A) c.2961+27G>A (n.2961+27G>A) c.195+27G>A (n.195+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49218429T>A | CA2693708675 | CACNA1F | c.2928+26A>T (n.2928+26A>T) c.2766+26A>T (n.2766+26A>T) c.2961+26A>T (n.2961+26A>T) c.195+26A>T (n.195+26A>T) | gnomAD v4 |
X | g.49218429T>C | CA2693708680 | CACNA1F | c.2928+26A>G (n.2928+26A>G) c.2766+26A>G (n.2766+26A>G) c.2961+26A>G (n.2961+26A>G) c.195+26A>G (n.195+26A>G) | gnomAD v4 |
X | g.49218429T>G | CA2513262259 | CACNA1F | c.2928+26A>C (n.2928+26A>C) c.2766+26A>C (n.2766+26A>C) c.2961+26A>C (n.2961+26A>C) c.195+26A>C (n.195+26A>C) | |
X | g.49218430G>A | CA2579607660 | CACNA1F | c.2928+25C>T (n.2928+25C>T) c.2766+25C>T (n.2766+25C>T) c.2961+25C>T (n.2961+25C>T) c.195+25C>T (n.195+25C>T) | gnomAD v4 |
X | g.49218430G>C | CA641531509 | CACNA1F | c.2928+25C>G (n.2928+25C>G) c.2766+25C>G (n.2766+25C>G) c.2961+25C>G (n.2961+25C>G) c.195+25C>G (n.195+25C>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49218430G= | CA2428540356 | CACNA1F | c.2928+25C= (n.2928+25C=) c.2766+25C= (n.2766+25C=) c.2961+25C= (n.2961+25C=) c.195+25C= (n.195+25C=) | |
X | g.49218430G>T | CA2842013690 | CACNA1F | c.2928+25C>A (n.2928+25C>A) c.2766+25C>A (n.2766+25C>A) c.2961+25C>A (n.2961+25C>A) c.195+25C>A (n.195+25C>A) | |
X | g.49218431T>C | CA2693708699 | CACNA1F | c.2928+24A>G (n.2928+24A>G) c.2766+24A>G (n.2766+24A>G) c.2961+24A>G (n.2961+24A>G) c.195+24A>G (n.195+24A>G) | gnomAD v4 |
X | g.49218431T>G | CA1132997612 | CACNA1F | c.2928+24A>C (n.2928+24A>C) c.2766+24A>C (n.2766+24A>C) c.2961+24A>C (n.2961+24A>C) c.195+24A>C (n.195+24A>C) | gnomAD v3 gnomAD v4 |
X | g.49218432G>T | CA2579607661 | CACNA1F | c.2928+23C>A (n.2928+23C>A) c.2766+23C>A (n.2766+23C>A) c.2961+23C>A (n.2961+23C>A) c.195+23C>A (n.195+23C>A) | gnomAD v4 |
X | g.49218434del | CA2693708711 | CACNA1F | c.2928+23del (n.2928+23del) c.2766+23del (n.2766+23del) c.2961+23del (n.2961+23del) c.195+23del (n.195+23del) | gnomAD v4 |
X | g.49218433G>A | CA329140968 | CACNA1F | c.2928+22C>T (n.2928+22C>T) c.2766+22C>T (n.2766+22C>T) c.2961+22C>T (n.2961+22C>T) c.195+22C>T (n.195+22C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49218433G= | CA2428540357 | CACNA1F | c.2928+22C= (n.2928+22C=) c.2766+22C= (n.2766+22C=) c.2961+22C= (n.2961+22C=) c.195+22C= (n.195+22C=) | |
X | g.49218434G>C | CA2693708724 | CACNA1F | c.2928+21C>G (n.2928+21C>G) c.2766+21C>G (n.2766+21C>G) c.2961+21C>G (n.2961+21C>G) c.195+21C>G (n.195+21C>G) | gnomAD v4 |
X | g.49218434G>T | CA2579607662 | CACNA1F | c.2928+21C>A (n.2928+21C>A) c.2766+21C>A (n.2766+21C>A) c.2961+21C>A (n.2961+21C>A) c.195+21C>A (n.195+21C>A) | gnomAD v4 |
X | g.49218435T>A | CA2693708729 | CACNA1F | c.2928+20A>T (n.2928+20A>T) c.2766+20A>T (n.2766+20A>T) c.2961+20A>T (n.2961+20A>T) c.195+20A>T (n.195+20A>T) | gnomAD v4 |
X | g.49218435T>G | CA1132997614 | CACNA1F | c.2928+20A>C (n.2928+20A>C) c.2766+20A>C (n.2766+20A>C) c.2961+20A>C (n.2961+20A>C) c.195+20A>C (n.195+20A>C) | gnomAD v3 gnomAD v4 |
X | g.49218436T>G | CA641531511 | CACNA1F | c.2928+19A>C (n.2928+19A>C) c.2766+19A>C (n.2766+19A>C) c.2961+19A>C (n.2961+19A>C) c.195+19A>C (n.195+19A>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49218436T= | CA2428540358 | CACNA1F | c.2928+19A= (n.2928+19A=) c.2766+19A= (n.2766+19A=) c.2961+19A= (n.2961+19A=) c.195+19A= (n.195+19A=) | |
X | g.49218437_49218441del | CA2693708735 | CACNA1F | c.2928+15_2928+19del (n.2928+15_2928+19del) c.2766+15_2766+19del (n.2766+15_2766+19del) c.2961+15_2961+19del (n.2961+15_2961+19del) c.195+15_195+19del (n.195+15_195+19del) | gnomAD v4 |
X | g.49218437T>G | CA1132997615 | CACNA1F | c.2928+18A>C (n.2928+18A>C) c.2766+18A>C (n.2766+18A>C) c.2961+18A>C (n.2961+18A>C) c.195+18A>C (n.195+18A>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49218438G>A | CA2693708752 | CACNA1F | c.2928+17C>T (n.2928+17C>T) c.2766+17C>T (n.2766+17C>T) c.2961+17C>T (n.2961+17C>T) c.195+17C>T (n.195+17C>T) | gnomAD v4 |
X | g.49218438G>T | CA658000936 | CACNA1F | c.2928+17C>A (n.2928+17C>A) c.2766+17C>A (n.2766+17C>A) c.2961+17C>A (n.2961+17C>A) c.195+17C>A (n.195+17C>A) | gnomAD v4 COSMIC |
X | g.49218447_49218451del | CA2579607663 | CACNA1F | c.2928+13_2928+17del (n.2928+13_2928+17del) c.2766+13_2766+17del (n.2766+13_2766+17del) c.2961+13_2961+17del (n.2961+13_2961+17del) c.195+13_195+17del (n.195+13_195+17del) | gnomAD v4 |
X | g.49218439G>A | CA2693708758 | CACNA1F | c.2928+16C>T (n.2928+16C>T) c.2766+16C>T (n.2766+16C>T) c.2961+16C>T (n.2961+16C>T) c.195+16C>T (n.195+16C>T) | gnomAD v4 |
X | g.49218439G>T | CA2579607664 | CACNA1F | c.2928+16C>A (n.2928+16C>A) c.2766+16C>A (n.2766+16C>A) c.2961+16C>A (n.2961+16C>A) c.195+16C>A (n.195+16C>A) | gnomAD v4 |
X | g.49218440G>T | CA2693708764 | CACNA1F | c.2928+15C>A (n.2928+15C>A) c.2766+15C>A (n.2766+15C>A) c.2961+15C>A (n.2961+15C>A) c.195+15C>A (n.195+15C>A) | gnomAD v4 |
X | g.49218441T>A | CA2842013691 | CACNA1F | c.2928+14A>T (n.2928+14A>T) c.2766+14A>T (n.2766+14A>T) c.2961+14A>T (n.2961+14A>T) c.195+14A>T (n.195+14A>T) | |
X | g.49218441T>G | CA1132997617 | CACNA1F | c.2928+14A>C (n.2928+14A>C) c.2766+14A>C (n.2766+14A>C) c.2961+14A>C (n.2961+14A>C) c.195+14A>C (n.195+14A>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49218441T= | CA2428540359 | CACNA1F | c.2928+14A= (n.2928+14A=) c.2766+14A= (n.2766+14A=) c.2961+14A= (n.2961+14A=) c.195+14A= (n.195+14A=) | |
X | g.49218442G>A | CA329140974 | CACNA1F | c.2928+13C>T (n.2928+13C>T) c.2766+13C>T (n.2766+13C>T) c.2961+13C>T (n.2961+13C>T) c.195+13C>T (n.195+13C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49218442G>C | CA641531512 | CACNA1F | c.2928+13C>G (n.2928+13C>G) c.2766+13C>G (n.2766+13C>G) c.2961+13C>G (n.2961+13C>G) c.195+13C>G (n.195+13C>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49218442G= | CA2428540360 | CACNA1F | c.2928+13C= (n.2928+13C=) c.2766+13C= (n.2766+13C=) c.2961+13C= (n.2961+13C=) c.195+13C= (n.195+13C=) | |
X | g.49218442G>T | CA2579607665 | CACNA1F | c.2928+13C>A (n.2928+13C>A) c.2766+13C>A (n.2766+13C>A) c.2961+13C>A (n.2961+13C>A) c.195+13C>A (n.195+13C>A) | |
X | g.49218443G>A | CA2693708772 | CACNA1F | c.2928+12C>T (n.2928+12C>T) c.2766+12C>T (n.2766+12C>T) c.2961+12C>T (n.2961+12C>T) c.195+12C>T (n.195+12C>T) | gnomAD v4 |
X | g.49218443G>T | CA2579607666 | CACNA1F | c.2928+12C>A (n.2928+12C>A) c.2766+12C>A (n.2766+12C>A) c.2961+12C>A (n.2961+12C>A) c.195+12C>A (n.195+12C>A) | gnomAD v4 |
X | g.49218444G>A | CA2693708773 | CACNA1F | c.2928+11C>T (n.2928+11C>T) c.2766+11C>T (n.2766+11C>T) c.2961+11C>T (n.2961+11C>T) c.195+11C>T (n.195+11C>T) | gnomAD v4 |
X | g.49218444G>C | CA2693708774 | CACNA1F | c.2928+11C>G (n.2928+11C>G) c.2766+11C>G (n.2766+11C>G) c.2961+11C>G (n.2961+11C>G) c.195+11C>G (n.195+11C>G) | gnomAD v4 |
X | g.49218444G>T | CA2693708775 | CACNA1F | c.2928+11C>A (n.2928+11C>A) c.2766+11C>A (n.2766+11C>A) c.2961+11C>A (n.2961+11C>A) c.195+11C>A (n.195+11C>A) | gnomAD v4 |
X | g.49218445G>A | CA641531514 | CACNA1F | c.2928+10C>T (n.2928+10C>T) c.2766+10C>T (n.2766+10C>T) c.2961+10C>T (n.2961+10C>T) c.195+10C>T (n.195+10C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49218445G= | CA2428540361 | CACNA1F | c.2928+10C= (n.2928+10C=) c.2766+10C= (n.2766+10C=) c.2961+10C= (n.2961+10C=) c.195+10C= (n.195+10C=) | |
X | g.49218445G>T | CA10410581 | CACNA1F | c.2928+10C>A (n.2928+10C>A) c.2766+10C>A (n.2766+10C>A) c.2961+10C>A (n.2961+10C>A) c.195+10C>A (n.195+10C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49218446del | CA2579607667 | CACNA1F | c.2928+9del (n.2928+9del) c.2766+9del (n.2766+9del) c.2961+9del (n.2961+9del) c.195+9del (n.195+9del) | |
X | g.49218446T>A | CA2540522254 | CACNA1F | c.2928+9A>T (n.2928+9A>T) c.2766+9A>T (n.2766+9A>T) c.2961+9A>T (n.2961+9A>T) c.195+9A>T (n.195+9A>T) | |
X | g.49218446T>G | CA641531516 | CACNA1F | c.2928+9A>C (n.2928+9A>C) c.2766+9A>C (n.2766+9A>C) c.2961+9A>C (n.2961+9A>C) c.195+9A>C (n.195+9A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49218446T= | CA2428540362 | CACNA1F | c.2928+9A= (n.2928+9A=) c.2766+9A= (n.2766+9A=) c.2961+9A= (n.2961+9A=) c.195+9A= (n.195+9A=) | |
X | g.49218447G>A | CA2693708786 | CACNA1F | c.2928+8C>T (n.2928+8C>T) c.2766+8C>T (n.2766+8C>T) c.2961+8C>T (n.2961+8C>T) c.195+8C>T (n.195+8C>T) | gnomAD v4 |
X | g.49218447G>T | CA2579607668 | CACNA1F | c.2928+8C>A (n.2928+8C>A) c.2766+8C>A (n.2766+8C>A) c.2961+8C>A (n.2961+8C>A) c.195+8C>A (n.195+8C>A) | gnomAD v4 |
X | g.49218448G>A | CA2693708789 | CACNA1F | c.2928+7C>T (n.2928+7C>T) c.2766+7C>T (n.2766+7C>T) c.2961+7C>T (n.2961+7C>T) c.195+7C>T (n.195+7C>T) | gnomAD v4 |
X | g.49218448G>T | CA2563287552 | CACNA1F | c.2928+7C>A (n.2928+7C>A) c.2766+7C>A (n.2766+7C>A) c.2961+7C>A (n.2961+7C>A) c.195+7C>A (n.195+7C>A) | gnomAD v4 |
X | g.49218449G>A | CA641531517 | CACNA1F | c.2928+6C>T (n.2928+6C>T) c.2766+6C>T (n.2766+6C>T) c.2961+6C>T (n.2961+6C>T) c.195+6C>T (n.195+6C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49218449G= | CA2428540363 | CACNA1F | c.2928+6C= (n.2928+6C=) c.2766+6C= (n.2766+6C=) c.2961+6C= (n.2961+6C=) c.195+6C= (n.195+6C=) | |
X | g.49218449G>T | CA2693708793 | CACNA1F | c.2928+6C>A (n.2928+6C>A) c.2766+6C>A (n.2766+6C>A) c.2961+6C>A (n.2961+6C>A) c.195+6C>A (n.195+6C>A) | gnomAD v4 |
X | g.49218450G>A | CA2499226766 | CACNA1F | c.2928+5C>T (n.2928+5C>T) c.2766+5C>T (n.2766+5C>T) c.2961+5C>T (n.2961+5C>T) c.195+5C>T (n.195+5C>T) | ClinVar dbSNP gnomAD v4 |
X | g.49218450G>T | CA2693708798 | CACNA1F | c.2928+5C>A (n.2928+5C>A) c.2766+5C>A (n.2766+5C>A) c.2961+5C>A (n.2961+5C>A) c.195+5C>A (n.195+5C>A) | gnomAD v4 |
X | g.49218451T>A | CA2839063089 | CACNA1F | c.2928+4A>T (n.2928+4A>T) c.2766+4A>T (n.2766+4A>T) c.2961+4A>T (n.2961+4A>T) c.195+4A>T (n.195+4A>T) | |
X | g.49218452T>A | CA10410582 | CACNA1F | c.2928+3A>T (n.2928+3A>T) c.2766+3A>T (n.2766+3A>T) c.2961+3A>T (n.2961+3A>T) c.195+3A>T (n.195+3A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.49218452T>C | CA329140981 | CACNA1F | c.2928+3A>G (n.2928+3A>G) c.2766+3A>G (n.2766+3A>G) c.2961+3A>G (n.2961+3A>G) c.195+3A>G (n.195+3A>G) | ClinVar dbSNP gnomAD v4 |
X | g.49218452T= | CA2428540364 | CACNA1F | c.2928+3A= (n.2928+3A=) c.2766+3A= (n.2766+3A=) c.2961+3A= (n.2961+3A=) c.195+3A= (n.195+3A=) | |
X | g.49218453A>C | CA412964563 | CACNA1F | c.2928+2T>G (n.2928+2T>G) c.2766+2T>G (n.2766+2T>G) c.2961+2T>G (n.2961+2T>G) c.195+2T>G (n.195+2T>G) | |
X | g.49218453A>G | CA412964564 | CACNA1F | c.2928+2T>C (n.2928+2T>C) c.2766+2T>C (n.2766+2T>C) c.2961+2T>C (n.2961+2T>C) c.195+2T>C (n.195+2T>C) | gnomAD v4 |
X | g.49218453A>T | CA412964565 | CACNA1F | c.2928+2T>A (n.2928+2T>A) c.2766+2T>A (n.2766+2T>A) c.2961+2T>A (n.2961+2T>A) c.195+2T>A (n.195+2T>A) | gnomAD v4 |
X | g.49218454C>A | CA412964566 | CACNA1F | c.2928+1G>T (n.2928+1G>T) c.2766+1G>T (n.2766+1G>T) c.2961+1G>T (n.2961+1G>T) c.195+1G>T (n.195+1G>T) | |
X | g.49218454C>G | CA412964567 | CACNA1F | c.2928+1G>C (n.2928+1G>C) c.2766+1G>C (n.2766+1G>C) c.2961+1G>C (n.2961+1G>C) c.195+1G>C (n.195+1G>C) | |
X | g.49218454C>T | CA412964568 | CACNA1F | c.2928+1G>A (n.2928+1G>A) c.2766+1G>A (n.2766+1G>A) c.2961+1G>A (n.2961+1G>A) c.195+1G>A (n.195+1G>A) | ClinVar dbSNP gnomAD v4 |
X | g.49218455C>A | CA412964569 | CACNA1F | c.2928G>T (p.Lys976Asn) c.2766G>T (p.Lys922Asn) c.2961G>T (p.Lys987Asn) c.195G>T (p.Lys65Asn) | |
X | g.49218455C= | CA2428540365 | CACNA1F | c.2928G= (p.Lys976=) c.2766G= (p.Lys922=) c.2961G= (p.Lys987=) c.195G= (p.Lys65=) | |
X | g.49218455C>G | CA412964570 | CACNA1F | c.2928G>C (p.Lys976Asn) c.2766G>C (p.Lys922Asn) c.2961G>C (p.Lys987Asn) c.195G>C (p.Lys65Asn) | |
X | g.49218455C>T | CA516377469 | CACNA1F | c.2928G>A (p.Lys976=) c.2766G>A (p.Lys922=) c.2961G>A (p.Lys987=) c.195G>A (p.Lys65=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49218456T>A | CA412964571 | CACNA1F | c.2927A>T (p.Lys976Met) c.2765A>T (p.Lys922Met) c.2960A>T (p.Lys987Met) c.194A>T (p.Lys65Met) | gnomAD v4 |
X | g.49218456T>C | CA412964572 | CACNA1F | c.2927A>G (p.Lys976Arg) c.2765A>G (p.Lys922Arg) c.2960A>G (p.Lys987Arg) c.194A>G (p.Lys65Arg) | gnomAD v4 |
X | g.49218456T>G | CA412964573 | CACNA1F | c.2927A>C (p.Lys976Thr) c.2765A>C (p.Lys922Thr) c.2960A>C (p.Lys987Thr) c.194A>C (p.Lys65Thr) | gnomAD v4 |
X | g.49218457T>A | CA412964576 | CACNA1F | c.2926A>T (p.Lys976Ter) c.2764A>T (p.Lys922Ter) c.2959A>T (p.Lys987Ter) c.193A>T (p.Lys65Ter) | |
X | g.49218457T>C | CA412964574 | CACNA1F | c.2926A>G (p.Lys976Glu) c.2764A>G (p.Lys922Glu) c.2959A>G (p.Lys987Glu) c.193A>G (p.Lys65Glu) | COSMIC |
X | g.49218457T>G | CA412964575 | CACNA1F | c.2926A>C (p.Lys976Gln) c.2764A>C (p.Lys922Gln) c.2959A>C (p.Lys987Gln) c.193A>C (p.Lys65Gln) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49218457T= | CA2428540366 | CACNA1F | c.2926A= (p.Lys976=) c.2764A= (p.Lys922=) c.2959A= (p.Lys987=) c.193A= (p.Lys65=) | |
X | g.49218458G>A | CA516377470 | CACNA1F | c.2925C>T (p.Leu975=) c.2763C>T (p.Leu921=) c.2958C>T (p.Leu986=) c.192C>T (p.Leu64=) | |
X | g.49218458G>C | CA516377471 | CACNA1F | c.2925C>G (p.Leu975=) c.2763C>G (p.Leu921=) c.2958C>G (p.Leu986=) c.192C>G (p.Leu64=) | |
X | g.49218458G>T | CA516377472 | CACNA1F | c.2925C>A (p.Leu975=) c.2763C>A (p.Leu921=) c.2958C>A (p.Leu986=) c.192C>A (p.Leu64=) | gnomAD v4 |
X | g.49218459A>C | CA412964577 | CACNA1F | c.2924T>G (p.Leu975Arg) c.2762T>G (p.Leu921Arg) c.2957T>G (p.Leu986Arg) c.191T>G (p.Leu64Arg) | |
X | g.49218459A>G | CA412964578 | CACNA1F | c.2924T>C (p.Leu975Pro) c.2762T>C (p.Leu921Pro) c.2957T>C (p.Leu986Pro) c.191T>C (p.Leu64Pro) | |
X | g.49218459A>T | CA412964579 | CACNA1F | c.2924T>A (p.Leu975His) c.2762T>A (p.Leu921His) c.2957T>A (p.Leu986His) c.191T>A (p.Leu64His) | |
X | g.49218460G>A | CA412964580 | CACNA1F | c.2923C>T (p.Leu975Phe) c.2761C>T (p.Leu921Phe) c.2956C>T (p.Leu986Phe) c.190C>T (p.Leu64Phe) | |
X | g.49218460G>C | CA412964581 | CACNA1F | c.2923C>G (p.Leu975Val) c.2761C>G (p.Leu921Val) c.2956C>G (p.Leu986Val) c.190C>G (p.Leu64Val) | |
X | g.49218460G>T | CA412964582 | CACNA1F | c.2923C>A (p.Leu975Ile) c.2761C>A (p.Leu921Ile) c.2956C>A (p.Leu986Ile) c.190C>A (p.Leu64Ile) | gnomAD v4 |
X | g.49218461T>A | CA516377474 | CACNA1F | c.2922A>T (p.Gly974=) c.2760A>T (p.Gly920=) c.2955A>T (p.Gly985=) c.189A>T (p.Gly63=) | |
X | g.49218461T>C | CA516377475 | CACNA1F | c.2922A>G (p.Gly974=) c.2760A>G (p.Gly920=) c.2955A>G (p.Gly985=) c.189A>G (p.Gly63=) | |
X | g.49218461T>G | CA516377473 | CACNA1F | c.2922A>C (p.Gly974=) c.2760A>C (p.Gly920=) c.2955A>C (p.Gly985=) c.189A>C (p.Gly63=) | |
X | g.49218462C>A | CA412964585 | CACNA1F | c.2921G>T (p.Gly974Val) c.2759G>T (p.Gly920Val) c.2954G>T (p.Gly985Val) c.188G>T (p.Gly63Val) | gnomAD v4 |
X | g.49218462C>G | CA412964583 | CACNA1F | c.2921G>C (p.Gly974Ala) c.2759G>C (p.Gly920Ala) c.2954G>C (p.Gly985Ala) c.188G>C (p.Gly63Ala) | |
X | g.49218462C>T | CA412964584 | CACNA1F | c.2921G>A (p.Gly974Glu) c.2759G>A (p.Gly920Glu) c.2954G>A (p.Gly985Glu) c.188G>A (p.Gly63Glu) | |
X | g.49218463C>A | CA412964586 | CACNA1F | c.2920G>T (p.Gly974Ter) c.2758G>T (p.Gly920Ter) c.2953G>T (p.Gly985Ter) c.187G>T (p.Gly63Ter) | gnomAD v4 |
X | g.49218463C>G | CA412964587 | CACNA1F | c.2920G>C (p.Gly974Arg) c.2758G>C (p.Gly920Arg) c.2953G>C (p.Gly985Arg) c.187G>C (p.Gly63Arg) | |
X | g.49218463C>T | CA412964588 | CACNA1F | c.2920G>A (p.Gly974Arg) c.2758G>A (p.Gly920Arg) c.2953G>A (p.Gly985Arg) c.187G>A (p.Gly63Arg) | |
X | g.49218464C>A | CA412964589 | CACNA1F | c.2919G>T (p.Lys973Asn) c.2757G>T (p.Lys919Asn) c.2952G>T (p.Lys984Asn) c.186G>T (p.Lys62Asn) | gnomAD v4 COSMIC |
X | g.49218464C= | CA2428540367 | CACNA1F | c.2919G= (p.Lys973=) c.2757G= (p.Lys919=) c.2952G= (p.Lys984=) c.186G= (p.Lys62=) | |
X | g.49218464C>G | CA412964590 | CACNA1F | c.2919G>C (p.Lys973Asn) c.2757G>C (p.Lys919Asn) c.2952G>C (p.Lys984Asn) c.186G>C (p.Lys62Asn) | |
X | g.49218464C>T | CA516377476 | CACNA1F | c.2919G>A (p.Lys973=) c.2757G>A (p.Lys919=) c.2952G>A (p.Lys984=) c.186G>A (p.Lys62=) | dbSNP gnomAD v4 |
X | g.49218465T>A | CA412964591 | CACNA1F | c.2918A>T (p.Lys973Met) c.2756A>T (p.Lys919Met) c.2951A>T (p.Lys984Met) c.185A>T (p.Lys62Met) | |
X | g.49218465T>C | CA412964593 | CACNA1F | c.2918A>G (p.Lys973Arg) c.2756A>G (p.Lys919Arg) c.2951A>G (p.Lys984Arg) c.185A>G (p.Lys62Arg) | |
X | g.49218465T>G | CA412964592 | CACNA1F | c.2918A>C (p.Lys973Thr) c.2756A>C (p.Lys919Thr) c.2951A>C (p.Lys984Thr) c.185A>C (p.Lys62Thr) | gnomAD v4 |
X | g.49218466T>A | CA412964594 | CACNA1F | c.2917A>T (p.Lys973Ter) c.2755A>T (p.Lys919Ter) c.2950A>T (p.Lys984Ter) c.184A>T (p.Lys62Ter) | |
X | g.49218466T>C | CA412964595 | CACNA1F | c.2917A>G (p.Lys973Glu) c.2755A>G (p.Lys919Glu) c.2950A>G (p.Lys984Glu) c.184A>G (p.Lys62Glu) | |
X | g.49218466T>G | CA412964596 | CACNA1F | c.2917A>C (p.Lys973Gln) c.2755A>C (p.Lys919Gln) c.2950A>C (p.Lys984Gln) c.184A>C (p.Lys62Gln) | |
X | g.49218467G>A | CA516377477 | CACNA1F | c.2916C>T (p.Ala972=) c.2754C>T (p.Ala918=) c.2949C>T (p.Ala983=) c.183C>T (p.Ala61=) | gnomAD v4 |
X | g.49218467G>C | CA516377478 | CACNA1F | c.2916C>G (p.Ala972=) c.2754C>G (p.Ala918=) c.2949C>G (p.Ala983=) c.183C>G (p.Ala61=) | |
X | g.49218467G>T | CA516377479 | CACNA1F | c.2916C>A (p.Ala972=) c.2754C>A (p.Ala918=) c.2949C>A (p.Ala983=) c.183C>A (p.Ala61=) | gnomAD v4 |
X | g.49218468G>A | CA412964597 | CACNA1F | c.2915C>T (p.Ala972Val) c.2753C>T (p.Ala918Val) c.2948C>T (p.Ala983Val) c.182C>T (p.Ala61Val) | gnomAD v4 |
X | g.49218468G>C | CA412964598 | CACNA1F | c.2915C>G (p.Ala972Gly) c.2753C>G (p.Ala918Gly) c.2948C>G (p.Ala983Gly) c.182C>G (p.Ala61Gly) | |
X | g.49218468G>T | CA412964599 | CACNA1F | c.2915C>A (p.Ala972Asp) c.2753C>A (p.Ala918Asp) c.2948C>A (p.Ala983Asp) c.182C>A (p.Ala61Asp) | gnomAD v4 |
X | g.49218469C>A | CA412964600 | CACNA1F | c.2914G>T (p.Ala972Ser) c.2752G>T (p.Ala918Ser) c.2947G>T (p.Ala983Ser) c.181G>T (p.Ala61Ser) | gnomAD v4 |
X | g.49218469C= | CA2428540368 | CACNA1F | c.2914G= (p.Ala972=) c.2752G= (p.Ala918=) c.2947G= (p.Ala983=) c.181G= (p.Ala61=) | |
X | g.49218469C>G | CA412964601 | CACNA1F | c.2914G>C (p.Ala972Pro) c.2752G>C (p.Ala918Pro) c.2947G>C (p.Ala983Pro) c.181G>C (p.Ala61Pro) | |
X | g.49218469C>T | CA412964602 | CACNA1F | c.2914G>A (p.Ala972Thr) c.2752G>A (p.Ala918Thr) c.2947G>A (p.Ala983Thr) c.181G>A (p.Ala61Thr) | dbSNP gnomAD v4 |
X | g.49218471del | CA2842013692 | CACNA1F | c.2914del (p.Ala972ProfsTer22) c.2752del (p.Ala918ProfsTer22) c.2947del (p.Ala983ProfsTer22) c.181del (p.Ala61ProfsTer22) | |
X | g.49218470C>A | CA412964603 | CACNA1F | c.2913G>T (p.Arg971Ser) c.2751G>T (p.Arg917Ser) c.2946G>T (p.Arg982Ser) c.180G>T (p.Arg60Ser) | gnomAD v4 |
X | g.49218470C= | CA2428540369 | CACNA1F | c.2913G= (p.Arg971=) c.2751G= (p.Arg917=) c.2946G= (p.Arg982=) c.180G= (p.Arg60=) | |
X | g.49218470C>G | CA412964604 | CACNA1F | c.2913G>C (p.Arg971Ser) c.2751G>C (p.Arg917Ser) c.2946G>C (p.Arg982Ser) c.180G>C (p.Arg60Ser) | |
X | g.49218470C>T | CA516377480 | CACNA1F | c.2913G>A (p.Arg971=) c.2751G>A (p.Arg917=) c.2946G>A (p.Arg982=) c.180G>A (p.Arg60=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.49218471C>A | CA412964605 | CACNA1F | c.2912G>T (p.Arg971Met) c.2750G>T (p.Arg917Met) c.2945G>T (p.Arg982Met) c.179G>T (p.Arg60Met) | gnomAD v4 |
X | g.49218471C>G | CA412964607 | CACNA1F | c.2912G>C (p.Arg971Thr) c.2750G>C (p.Arg917Thr) c.2945G>C (p.Arg982Thr) c.179G>C (p.Arg60Thr) | |
X | g.49218471C>T | CA412964606 | CACNA1F | c.2912G>A (p.Arg971Lys) c.2750G>A (p.Arg917Lys) c.2945G>A (p.Arg982Lys) c.179G>A (p.Arg60Lys) | gnomAD v4 |
X | g.49218472T>A | CA412964608 | CACNA1F | c.2911A>T (p.Arg971Trp) c.2749A>T (p.Arg917Trp) c.2944A>T (p.Arg982Trp) c.178A>T (p.Arg60Trp) | dbSNP gnomAD v4 |
X | g.49218472T>C | CA412964609 | CACNA1F | c.2911A>G (p.Arg971Gly) c.2749A>G (p.Arg917Gly) c.2944A>G (p.Arg982Gly) c.178A>G (p.Arg60Gly) | gnomAD v4 |
X | g.49218472T>G | CA516377481 | CACNA1F | c.2911A>C (p.Arg971=) c.2749A>C (p.Arg917=) c.2944A>C (p.Arg982=) c.178A>C (p.Arg60=) | COSMIC COSMIC |
X | g.49218472T= | CA2428540370 | CACNA1F | c.2911A= (p.Arg971=) c.2749A= (p.Arg917=) c.2944A= (p.Arg982=) c.178A= (p.Arg60=) | |
X | g.49218472_49218473insTGA | CA2428540371 | CACNA1F | c.2910_2911insTCA (p.Asn970_Arg971insSer) c.2748_2749insTCA (p.Asn916_Arg917insSer) c.2943_2944insTCA (p.Asn981_Arg982insSer) c.177_178insTCA (p.Asn59_Arg60insSer) | dbSNP |
X | g.49218473G>A | CA516377482 | CACNA1F | c.2910C>T (p.Asn970=) c.2748C>T (p.Asn916=) c.2943C>T (p.Asn981=) c.177C>T (p.Asn59=) | gnomAD v4 |
X | g.49218473G>C | CA412964610 | CACNA1F | c.2910C>G (p.Asn970Lys) c.2748C>G (p.Asn916Lys) c.2943C>G (p.Asn981Lys) c.177C>G (p.Asn59Lys) | |
X | g.49218473G>T | CA412964611 | CACNA1F | c.2910C>A (p.Asn970Lys) c.2748C>A (p.Asn916Lys) c.2943C>A (p.Asn981Lys) c.177C>A (p.Asn59Lys) | |
X | g.49218474T>A | CA412964612 | CACNA1F | c.2909A>T (p.Asn970Ile) c.2747A>T (p.Asn916Ile) c.2942A>T (p.Asn981Ile) c.176A>T (p.Asn59Ile) | |
X | g.49218474T>C | CA412964613 | CACNA1F | c.2909A>G (p.Asn970Ser) c.2747A>G (p.Asn916Ser) c.2942A>G (p.Asn981Ser) c.176A>G (p.Asn59Ser) | gnomAD v4 |
X | g.49218474T>G | CA412964614 | CACNA1F | c.2909A>C (p.Asn970Thr) c.2747A>C (p.Asn916Thr) c.2942A>C (p.Asn981Thr) c.176A>C (p.Asn59Thr) | |
X | g.49218474T= | CA2428540372 | CACNA1F | c.2909A= (p.Asn970=) c.2747A= (p.Asn916=) c.2942A= (p.Asn981=) c.176A= (p.Asn59=) | |
X | g.49218475del | CA2820835703 | CACNA1F | c.2909del (p.Asn970ThrfsTer24) c.2747del (p.Asn916ThrfsTer24) c.2942del (p.Asn981ThrfsTer24) c.176del (p.Asn59ThrfsTer24) | |
X | g.49218474_49218475insC | CA2428540374 | CACNA1F | c.2908_2909insG (p.Asn970ArgfsTer?) c.2746_2747insG (p.Asn916ArgfsTer?) c.2941_2942insG (p.Asn981ArgfsTer?) c.175_176insG (p.Asn59ArgfsTer?) | dbSNP |
X | g.49218475T>A | CA412964615 | CACNA1F | c.2908A>T (p.Asn970Tyr) c.2746A>T (p.Asn916Tyr) c.2941A>T (p.Asn981Tyr) c.175A>T (p.Asn59Tyr) | |
X | g.49218475T>C | CA412964616 | CACNA1F | c.2908A>G (p.Asn970Asp) c.2746A>G (p.Asn916Asp) c.2941A>G (p.Asn981Asp) c.175A>G (p.Asn59Asp) | dbSNP gnomAD v4 |
X | g.49218475T>G | CA412964617 | CACNA1F | c.2908A>C (p.Asn970His) c.2746A>C (p.Asn916His) c.2941A>C (p.Asn981His) c.175A>C (p.Asn59His) | |
X | g.49218475T= | CA2428540373 | CACNA1F | c.2908A= (p.Asn970=) c.2746A= (p.Asn916=) c.2941A= (p.Asn981=) c.175A= (p.Asn59=) | |
X | g.49218476G>A | CA516377483 | CACNA1F | c.2907C>T (p.Ile969=) c.2745C>T (p.Ile915=) c.2940C>T (p.Ile980=) c.174C>T (p.Ile58=) | |
X | g.49218476G>C | CA412964618 | CACNA1F | c.2907C>G (p.Ile969Met) c.2745C>G (p.Ile915Met) c.2940C>G (p.Ile980Met) c.174C>G (p.Ile58Met) | gnomAD v4 |
X | g.49218476G>T | CA516377484 | CACNA1F | c.2907C>A (p.Ile969=) c.2745C>A (p.Ile915=) c.2940C>A (p.Ile980=) c.174C>A (p.Ile58=) | gnomAD v4 |
X | g.49218477A>C | CA412964619 | CACNA1F | c.2906T>G (p.Ile969Ser) c.2744T>G (p.Ile915Ser) c.2939T>G (p.Ile980Ser) c.173T>G (p.Ile58Ser) | |
X | g.49218477A>G | CA412964620 | CACNA1F | c.2906T>C (p.Ile969Thr) c.2744T>C (p.Ile915Thr) c.2939T>C (p.Ile980Thr) c.173T>C (p.Ile58Thr) | |
X | g.49218477A>T | CA412964621 | CACNA1F | c.2906T>A (p.Ile969Asn) c.2744T>A (p.Ile915Asn) c.2939T>A (p.Ile980Asn) c.173T>A (p.Ile58Asn) | |
X | g.49218478T>A | CA412964624 | CACNA1F | c.2905A>T (p.Ile969Phe) c.2743A>T (p.Ile915Phe) c.2938A>T (p.Ile980Phe) c.172A>T (p.Ile58Phe) | |
X | g.49218478T>C | CA412964622 | CACNA1F | c.2905A>G (p.Ile969Val) c.2743A>G (p.Ile915Val) c.2938A>G (p.Ile980Val) c.172A>G (p.Ile58Val) | dbSNP gnomAD v2 |
X | g.49218478T>G | CA412964623 | CACNA1F | c.2905A>C (p.Ile969Leu) c.2743A>C (p.Ile915Leu) c.2938A>C (p.Ile980Leu) c.172A>C (p.Ile58Leu) | |
X | g.49218478T= | CA2428540375 | CACNA1F | c.2905A= (p.Ile969=) c.2743A= (p.Ile915=) c.2938A= (p.Ile980=) c.172A= (p.Ile58=) | |
X | g.49218479G>A | CA516377485 | CACNA1F | c.2904C>T (p.Ala968=) c.2742C>T (p.Ala914=) c.2937C>T (p.Ala979=) c.171C>T (p.Ala57=) | |
X | g.49218479G>C | CA516377486 | CACNA1F | c.2904C>G (p.Ala968=) c.2742C>G (p.Ala914=) c.2937C>G (p.Ala979=) c.171C>G (p.Ala57=) | |
X | g.49218479G>T | CA516377487 | CACNA1F | c.2904C>A (p.Ala968=) c.2742C>A (p.Ala914=) c.2937C>A (p.Ala979=) c.171C>A (p.Ala57=) | gnomAD v4 |
X | g.49218480G>A | CA412964625 | CACNA1F | c.2903C>T (p.Ala968Val) c.2741C>T (p.Ala914Val) c.2936C>T (p.Ala979Val) c.170C>T (p.Ala57Val) | |
X | g.49218480G>C | CA412964626 | CACNA1F | c.2903C>G (p.Ala968Gly) c.2741C>G (p.Ala914Gly) c.2936C>G (p.Ala979Gly) c.170C>G (p.Ala57Gly) | |
X | g.49218480G>T | CA412964627 | CACNA1F | c.2903C>A (p.Ala968Asp) c.2741C>A (p.Ala914Asp) c.2936C>A (p.Ala979Asp) c.170C>A (p.Ala57Asp) | |
X | g.49218481C>A | CA412964628 | CACNA1F | c.2902G>T (p.Ala968Ser) c.2740G>T (p.Ala914Ser) c.2935G>T (p.Ala979Ser) c.169G>T (p.Ala57Ser) | gnomAD v4 |
X | g.49218481C>G | CA412964629 | CACNA1F | c.2902G>C (p.Ala968Pro) c.2740G>C (p.Ala914Pro) c.2935G>C (p.Ala979Pro) c.169G>C (p.Ala57Pro) | |
X | g.49218481C>T | CA412964630 | CACNA1F | c.2902G>A (p.Ala968Thr) c.2740G>A (p.Ala914Thr) c.2935G>A (p.Ala979Thr) c.169G>A (p.Ala57Thr) | gnomAD v4 |
X | g.49218482T>A | CA516377488 | CACNA1F | c.2901A>T (p.Arg967=) c.2739A>T (p.Arg913=) c.2934A>T (p.Arg978=) c.168A>T (p.Arg56=) | gnomAD v4 |
X | g.49218482T>C | CA516377489 | CACNA1F | c.2901A>G (p.Arg967=) c.2739A>G (p.Arg913=) c.2934A>G (p.Arg978=) c.168A>G (p.Arg56=) | |
X | g.49218482T>G | CA516377490 | CACNA1F | c.2901A>C (p.Arg967=) c.2739A>C (p.Arg913=) c.2934A>C (p.Arg978=) c.168A>C (p.Arg56=) | |
X | g.49218483C>A | CA412964631 | CACNA1F | c.2900G>T (p.Arg967Leu) c.2738G>T (p.Arg913Leu) c.2933G>T (p.Arg978Leu) c.167G>T (p.Arg56Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49218483C= | CA2428540376 | CACNA1F | c.2900G= (p.Arg967=) c.2738G= (p.Arg913=) c.2933G= (p.Arg978=) c.167G= (p.Arg56=) | |
X | g.49218483C>G | CA412964632 | CACNA1F | c.2900G>C (p.Arg967Pro) c.2738G>C (p.Arg913Pro) c.2933G>C (p.Arg978Pro) c.167G>C (p.Arg56Pro) | gnomAD v4 |
X | g.49218483C>T | CA412964633 | CACNA1F | c.2900G>A (p.Arg967Gln) c.2738G>A (p.Arg913Gln) c.2933G>A (p.Arg978Gln) c.167G>A (p.Arg56Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.49218484G>A | CA412964634 | CACNA1F | c.2899C>T (p.Arg967Ter) c.2737C>T (p.Arg913Ter) c.2932C>T (p.Arg978Ter) c.166C>T (p.Arg56Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.49218484G>C | CA412964635 | CACNA1F | c.2899C>G (p.Arg967Gly) c.2737C>G (p.Arg913Gly) c.2932C>G (p.Arg978Gly) c.166C>G (p.Arg56Gly) | gnomAD v4 |
X | g.49218484G= | CA2428540377 | CACNA1F | c.2899C= (p.Arg967=) c.2737C= (p.Arg913=) c.2932C= (p.Arg978=) c.166C= (p.Arg56=) | |
X | g.49218484G>T | CA516377491 | CACNA1F | c.2899C>A (p.Arg967=) c.2737C>A (p.Arg913=) c.2932C>A (p.Arg978=) c.166C>A (p.Arg56=) | gnomAD v4 |
X | g.49218485G>A | CA516377492 | CACNA1F | c.2898C>T (p.Leu966=) c.2736C>T (p.Leu912=) c.2931C>T (p.Leu977=) c.165C>T (p.Leu55=) | |
X | g.49218485G>C | CA516377493 | CACNA1F | c.2898C>G (p.Leu966=) c.2736C>G (p.Leu912=) c.2931C>G (p.Leu977=) c.165C>G (p.Leu55=) | |
X | g.49218485G>T | CA516377494 | CACNA1F | c.2898C>A (p.Leu966=) c.2736C>A (p.Leu912=) c.2931C>A (p.Leu977=) c.165C>A (p.Leu55=) | |
X | g.49218486A>C | CA412964638 | CACNA1F | c.2897T>G (p.Leu966Arg) c.2735T>G (p.Leu912Arg) c.2930T>G (p.Leu977Arg) c.164T>G (p.Leu55Arg) | |
X | g.49218486A>G | CA412964637 | CACNA1F | c.2897T>C (p.Leu966Pro) c.2735T>C (p.Leu912Pro) c.2930T>C (p.Leu977Pro) c.164T>C (p.Leu55Pro) | gnomAD v4 |
X | g.49218486A>T | CA412964636 | CACNA1F | c.2897T>A (p.Leu966His) c.2735T>A (p.Leu912His) c.2930T>A (p.Leu977His) c.164T>A (p.Leu55His) | gnomAD v4 |
X | g.49218486_49218487delinsAG | CA2428540378 | CACNA1F | c.2896_2897delinsCT (p.Leu966=) c.2734_2735delinsCT (p.Leu912=) c.2929_2930delinsCT (p.Leu977=) c.163_164delinsCT (p.Leu55=) | |
X | g.49218487G>A | CA412964639 | CACNA1F | c.2896C>T (p.Leu966Phe) c.2734C>T (p.Leu912Phe) c.2929C>T (p.Leu977Phe) c.163C>T (p.Leu55Phe) | ClinVar dbSNP gnomAD v4 |
X | g.49218487G>C | CA412964640 | CACNA1F | c.2896C>G (p.Leu966Val) c.2734C>G (p.Leu912Val) c.2929C>G (p.Leu977Val) c.163C>G (p.Leu55Val) | |
X | g.49218487G= | CA2428540379 | CACNA1F | c.2896C= (p.Leu966=) c.2734C= (p.Leu912=) c.2929C= (p.Leu977=) c.163C= (p.Leu55=) | |
X | g.49218487G>T | CA412964641 | CACNA1F | c.2896C>A (p.Leu966Ile) c.2734C>A (p.Leu912Ile) c.2929C>A (p.Leu977Ile) c.163C>A (p.Leu55Ile) | gnomAD v4 |
X | g.49218490del | CA641531521 | CACNA1F | c.2896del (p.Leu966SerfsTer28) c.2734del (p.Leu912SerfsTer28) c.2929del (p.Leu977SerfsTer28) c.163del (p.Leu55SerfsTer28) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49218488G>A | CA329140982 | CACNA1F | c.2895C>T (p.Pro965=) c.2733C>T (p.Pro911=) c.2928C>T (p.Pro976=) c.162C>T (p.Pro54=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.49218488G>C | CA516377495 | CACNA1F | c.2895C>G (p.Pro965=) c.2733C>G (p.Pro911=) c.2928C>G (p.Pro976=) c.162C>G (p.Pro54=) | |
X | g.49218488G= | CA2428540380 | CACNA1F | c.2895C= (p.Pro965=) c.2733C= (p.Pro911=) c.2928C= (p.Pro976=) c.162C= (p.Pro54=) | |
X | g.49218488G>T | CA516377496 | CACNA1F | c.2895C>A (p.Pro965=) c.2733C>A (p.Pro911=) c.2928C>A (p.Pro976=) c.162C>A (p.Pro54=) | gnomAD v4 |
X | g.49218489G>A | CA412964642 | CACNA1F | c.2894C>T (p.Pro965Leu) c.2732C>T (p.Pro911Leu) c.2927C>T (p.Pro976Leu) c.161C>T (p.Pro54Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49218489G>C | CA412964643 | CACNA1F | c.2894C>G (p.Pro965Arg) c.2732C>G (p.Pro911Arg) c.2927C>G (p.Pro976Arg) c.161C>G (p.Pro54Arg) | |
X | g.49218489G= | CA2428540381 | CACNA1F | c.2894C= (p.Pro965=) c.2732C= (p.Pro911=) c.2927C= (p.Pro976=) c.161C= (p.Pro54=) | |
X | g.49218489G>T | CA412964644 | CACNA1F | c.2894C>A (p.Pro965His) c.2732C>A (p.Pro911His) c.2927C>A (p.Pro976His) c.161C>A (p.Pro54His) | |
X | g.49218490G>A | CA412964647 | CACNA1F | c.2893C>T (p.Pro965Ser) c.2731C>T (p.Pro911Ser) c.2926C>T (p.Pro976Ser) c.160C>T (p.Pro54Ser) | |
X | g.49218490G>C | CA412964645 | CACNA1F | c.2893C>G (p.Pro965Ala) c.2731C>G (p.Pro911Ala) c.2926C>G (p.Pro976Ala) c.160C>G (p.Pro54Ala) | |
X | g.49218490G= | CA2428540382 | CACNA1F | c.2893C= (p.Pro965=) c.2731C= (p.Pro911=) c.2926C= (p.Pro976=) c.160C= (p.Pro54=) | |
X | g.49218490G>T | CA412964646 | CACNA1F | c.2893C>A (p.Pro965Thr) c.2731C>A (p.Pro911Thr) c.2926C>A (p.Pro976Thr) c.160C>A (p.Pro54Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49218491C>A | CA516377497 | CACNA1F | c.2892G>T (p.Arg964=) c.2730G>T (p.Arg910=) c.2925G>T (p.Arg975=) c.159G>T (p.Arg53=) | gnomAD v4 |
X | g.49218491C>G | CA516377499 | CACNA1F | c.2892G>C (p.Arg964=) c.2730G>C (p.Arg910=) c.2925G>C (p.Arg975=) c.159G>C (p.Arg53=) | |
X | g.49218491C>T | CA516377498 | CACNA1F | c.2892G>A (p.Arg964=) c.2730G>A (p.Arg910=) c.2925G>A (p.Arg975=) c.159G>A (p.Arg53=) | gnomAD v4 |
X | g.49218492C>A | CA412964648 | CACNA1F | c.2891G>T (p.Arg964Leu) c.2729G>T (p.Arg910Leu) c.2924G>T (p.Arg975Leu) c.158G>T (p.Arg53Leu) | gnomAD v4 |
X | g.49218492C>G | CA412964649 | CACNA1F | c.2891G>C (p.Arg964Pro) c.2729G>C (p.Arg910Pro) c.2924G>C (p.Arg975Pro) c.158G>C (p.Arg53Pro) | |
X | g.49218492C>T | CA412964650 | CACNA1F | c.2891G>A (p.Arg964Gln) c.2729G>A (p.Arg910Gln) c.2924G>A (p.Arg975Gln) c.158G>A (p.Arg53Gln) | ClinVar gnomAD v4 |
X | g.49218493_49218494del | CA2842013693 | CACNA1F | c.2890_2891del (p.Arg964AlafsTer?) c.2728_2729del (p.Arg910AlafsTer?) c.2923_2924del (p.Arg975AlafsTer?) c.157_158del (p.Arg53AlafsTer?) | |
X | g.49218493G>A | CA412964651 | CACNA1F | c.2890C>T (p.Arg964Trp) c.2728C>T (p.Arg910Trp) c.2923C>T (p.Arg975Trp) c.157C>T (p.Arg53Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49218493G>C | CA412964652 | CACNA1F | c.2890C>G (p.Arg964Gly) c.2728C>G (p.Arg910Gly) c.2923C>G (p.Arg975Gly) c.157C>G (p.Arg53Gly) | |
X | g.49218493G= | CA2428540383 | CACNA1F | c.2890C= (p.Arg964=) c.2728C= (p.Arg910=) c.2923C= (p.Arg975=) c.157C= (p.Arg53=) | |
X | g.49218493G>T | CA516377500 | CACNA1F | c.2890C>A (p.Arg964=) c.2728C>A (p.Arg910=) c.2923C>A (p.Arg975=) c.157C>A (p.Arg53=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.49218494C>A | CA516377503 | CACNA1F | c.2889G>T (p.Leu963=) c.2727G>T (p.Leu909=) c.2922G>T (p.Leu974=) c.156G>T (p.Leu52=) | dbSNP gnomAD v2 |
X | g.49218494C= | CA2428540384 | CACNA1F | c.2889G= (p.Leu963=) c.2727G= (p.Leu909=) c.2922G= (p.Leu974=) c.156G= (p.Leu52=) | |
X | g.49218494C>G | CA516377502 | CACNA1F | c.2889G>C (p.Leu963=) c.2727G>C (p.Leu909=) c.2922G>C (p.Leu974=) c.156G>C (p.Leu52=) | |
X | g.49218494C>T | CA516377501 | CACNA1F | c.2889G>A (p.Leu963=) c.2727G>A (p.Leu909=) c.2922G>A (p.Leu974=) c.156G>A (p.Leu52=) | |
X | g.49218495A>C | CA412964653 | CACNA1F | c.2888T>G (p.Leu963Arg) c.2726T>G (p.Leu909Arg) c.2921T>G (p.Leu974Arg) c.155T>G (p.Leu52Arg) | |
X | g.49218495A>G | CA412964655 | CACNA1F | c.2888T>C (p.Leu963Pro) c.2726T>C (p.Leu909Pro) c.2921T>C (p.Leu974Pro) c.155T>C (p.Leu52Pro) | ClinVar gnomAD v4 |
X | g.49218495A>T | CA412964654 | CACNA1F | c.2888T>A (p.Leu963Gln) c.2726T>A (p.Leu909Gln) c.2921T>A (p.Leu974Gln) c.155T>A (p.Leu52Gln) | |
X | g.49218496G>A | CA516377504 | CACNA1F | c.2887C>T (p.Leu963=) c.2725C>T (p.Leu909=) c.2920C>T (p.Leu974=) c.154C>T (p.Leu52=) | gnomAD v4 |
X | g.49218496G>C | CA412964656 | CACNA1F | c.2887C>G (p.Leu963Val) c.2725C>G (p.Leu909Val) c.2920C>G (p.Leu974Val) c.154C>G (p.Leu52Val) | |
X | g.49218496G>T | CA412964657 | CACNA1F | c.2887C>A (p.Leu963Met) c.2725C>A (p.Leu909Met) c.2920C>A (p.Leu974Met) c.154C>A (p.Leu52Met) | gnomAD v4 COSMIC |
X | g.49218497T>A | CA516377505 | CACNA1F | c.2886A>T (p.Val962=) c.2724A>T (p.Val908=) c.2919A>T (p.Val973=) c.153A>T (p.Val51=) | |
X | g.49218497T>C | CA516377507 | CACNA1F | c.2886A>G (p.Val962=) c.2724A>G (p.Val908=) c.2919A>G (p.Val973=) c.153A>G (p.Val51=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49218497T>G | CA516377506 | CACNA1F | c.2886A>C (p.Val962=) c.2724A>C (p.Val908=) c.2919A>C (p.Val973=) c.153A>C (p.Val51=) | |
X | g.49218497T= | CA2428540385 | CACNA1F | c.2886A= (p.Val962=) c.2724A= (p.Val908=) c.2919A= (p.Val973=) c.153A= (p.Val51=) | |
X | g.49218498A>C | CA412964658 | CACNA1F | c.2885T>G (p.Val962Gly) c.2723T>G (p.Val908Gly) c.2918T>G (p.Val973Gly) c.152T>G (p.Val51Gly) | |
X | g.49218498A>G | CA412964659 | CACNA1F | c.2885T>C (p.Val962Ala) c.2723T>C (p.Val908Ala) c.2918T>C (p.Val973Ala) c.152T>C (p.Val51Ala) | |
X | g.49218498A>T | CA412964660 | CACNA1F | c.2885T>A (p.Val962Glu) c.2723T>A (p.Val908Glu) c.2918T>A (p.Val973Glu) c.152T>A (p.Val51Glu) | |
X | g.49218499C>A | CA412964661 | CACNA1F | c.2884G>T (p.Val962Leu) c.2722G>T (p.Val908Leu) c.2917G>T (p.Val973Leu) c.151G>T (p.Val51Leu) | |
X | g.49218499C>G | CA412964662 | CACNA1F | c.2884G>C (p.Val962Leu) c.2722G>C (p.Val908Leu) c.2917G>C (p.Val973Leu) c.151G>C (p.Val51Leu) | |
X | g.49218499C>T | CA412964663 | CACNA1F | c.2884G>A (p.Val962Ile) c.2722G>A (p.Val908Ile) c.2917G>A (p.Val973Ile) c.151G>A (p.Val51Ile) | gnomAD v4 |
X | g.49218500T>A | CA516377508 | CACNA1F | c.2883A>T (p.Arg961=) c.2721A>T (p.Arg907=) c.2916A>T (p.Arg972=) c.150A>T (p.Arg50=) | gnomAD v4 |
X | g.49218500T>C | CA516377509 | CACNA1F | c.2883A>G (p.Arg961=) c.2721A>G (p.Arg907=) c.2916A>G (p.Arg972=) c.150A>G (p.Arg50=) | |
X | g.49218500T>G | CA516377510 | CACNA1F | c.2883A>C (p.Arg961=) c.2721A>C (p.Arg907=) c.2916A>C (p.Arg972=) c.150A>C (p.Arg50=) | |
X | g.49218501C>A | CA412964664 | CACNA1F | c.2882G>T (p.Arg961Leu) c.2720G>T (p.Arg907Leu) c.2915G>T (p.Arg972Leu) c.149G>T (p.Arg50Leu) | gnomAD v4 |
X | g.49218501C= | CA2428540386 | CACNA1F | c.2882G= (p.Arg961=) c.2720G= (p.Arg907=) c.2915G= (p.Arg972=) c.149G= (p.Arg50=) | |
X | g.49218501C>G | CA412964665 | CACNA1F | c.2882G>C (p.Arg961Pro) c.2720G>C (p.Arg907Pro) c.2915G>C (p.Arg972Pro) c.149G>C (p.Arg50Pro) | |
X | g.49218501C>T | CA10410583 | CACNA1F | c.2882G>A (p.Arg961Gln) c.2720G>A (p.Arg907Gln) c.2915G>A (p.Arg972Gln) c.149G>A (p.Arg50Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49218502G>A | CA412964666 | CACNA1F | c.2881C>T (p.Arg961Ter) c.2719C>T (p.Arg907Ter) c.2914C>T (p.Arg972Ter) c.148C>T (p.Arg50Ter) | ClinVar dbSNP gnomAD v4 |
X | g.49218502G>C | CA412964667 | CACNA1F | c.2881C>G (p.Arg961Gly) c.2719C>G (p.Arg907Gly) c.2914C>G (p.Arg972Gly) c.148C>G (p.Arg50Gly) | |
X | g.49218502G= | CA2428540387 | CACNA1F | c.2881C= (p.Arg961=) c.2719C= (p.Arg907=) c.2914C= (p.Arg972=) c.148C= (p.Arg50=) | |
X | g.49218502G>T | CA516377511 | CACNA1F | c.2881C>A (p.Arg961=) c.2719C>A (p.Arg907=) c.2914C>A (p.Arg972=) c.148C>A (p.Arg50=) | gnomAD v4 |
X | g.49218503G>A | CA516377512 | CACNA1F | c.2880C>T (p.Leu960=) c.2718C>T (p.Leu906=) c.2913C>T (p.Leu971=) c.147C>T (p.Leu49=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49218503G>C | CA516377513 | CACNA1F | c.2880C>G (p.Leu960=) c.2718C>G (p.Leu906=) c.2913C>G (p.Leu971=) c.147C>G (p.Leu49=) | |
X | g.49218503G= | CA2428540388 | CACNA1F | c.2880C= (p.Leu960=) c.2718C= (p.Leu906=) c.2913C= (p.Leu971=) c.147C= (p.Leu49=) | |
X | g.49218503G>T | CA516377514 | CACNA1F | c.2880C>A (p.Leu960=) c.2718C>A (p.Leu906=) c.2913C>A (p.Leu971=) c.147C>A (p.Leu49=) | |
X | g.49218503_49218504insTTTTTTAATG | CA1132997635 | CACNA1F | c.2880_2881insATTAAAAAAC (p.Arg961IlefsTer?) c.2718_2719insATTAAAAAAC (p.Arg907IlefsTer?) c.2913_2914insATTAAAAAAC (p.Arg972IlefsTer?) c.147_148insATTAAAAAAC (p.Arg50IlefsTer?) | gnomAD v3 gnomAD v4 |
X | g.49218504A>C | CA412964668 | CACNA1F | c.2879T>G (p.Leu960Arg) c.2717T>G (p.Leu906Arg) c.2912T>G (p.Leu971Arg) c.146T>G (p.Leu49Arg) | |
X | g.49218504A>G | CA412964670 | CACNA1F | c.2879T>C (p.Leu960Pro) c.2717T>C (p.Leu906Pro) c.2912T>C (p.Leu971Pro) c.146T>C (p.Leu49Pro) | gnomAD v4 |
X | g.49218504A>T | CA412964669 | CACNA1F | c.2879T>A (p.Leu960His) c.2717T>A (p.Leu906His) c.2912T>A (p.Leu971His) c.146T>A (p.Leu49His) | |
X | g.49218505del | CA1132997640 | CACNA1F | c.2878del (p.Leu960SerfsTer?) c.2716del (p.Leu906SerfsTer?) c.2911del (p.Leu971SerfsTer?) c.145del (p.Leu49SerfsTer?) | gnomAD v3 gnomAD v4 |
X | g.49218505G>A | CA412964671 | CACNA1F | c.2878C>T (p.Leu960Phe) c.2716C>T (p.Leu906Phe) c.2911C>T (p.Leu971Phe) c.145C>T (p.Leu49Phe) | gnomAD v4 |
X | g.49218505G>C | CA412964672 | CACNA1F | c.2878C>G (p.Leu960Val) c.2716C>G (p.Leu906Val) c.2911C>G (p.Leu971Val) c.145C>G (p.Leu49Val) | |
X | g.49218505G>T | CA412964673 | CACNA1F | c.2878C>A (p.Leu960Ile) c.2716C>A (p.Leu906Ile) c.2911C>A (p.Leu971Ile) c.145C>A (p.Leu49Ile) | gnomAD v4 |
X | g.49218506T>A | CA516377515 | CACNA1F | c.2877A>T (p.Val959=) c.2715A>T (p.Val905=) c.2910A>T (p.Val970=) c.144A>T (p.Val48=) | |
X | g.49218506T>C | CA516377516 | CACNA1F | c.2877A>G (p.Val959=) c.2715A>G (p.Val905=) c.2910A>G (p.Val970=) c.144A>G (p.Val48=) | gnomAD v4 |
X | g.49218506T>G | CA516377517 | CACNA1F | c.2877A>C (p.Val959=) c.2715A>C (p.Val905=) c.2910A>C (p.Val970=) c.144A>C (p.Val48=) | |
X | g.49218507A>C | CA412964674 | CACNA1F | c.2876T>G (p.Val959Gly) c.2714T>G (p.Val905Gly) c.2909T>G (p.Val970Gly) c.143T>G (p.Val48Gly) | |
X | g.49218507A>G | CA412964675 | CACNA1F | c.2876T>C (p.Val959Ala) c.2714T>C (p.Val905Ala) c.2909T>C (p.Val970Ala) c.143T>C (p.Val48Ala) | |
X | g.49218507A>T | CA412964676 | CACNA1F | c.2876T>A (p.Val959Glu) c.2714T>A (p.Val905Glu) c.2909T>A (p.Val970Glu) c.143T>A (p.Val48Glu) | gnomAD v3 gnomAD v4 |
X | g.49218508C>A | CA412964679 | CACNA1F | c.2875G>T (p.Val959Leu) c.2713G>T (p.Val905Leu) c.2908G>T (p.Val970Leu) c.142G>T (p.Val48Leu) | gnomAD v4 |
X | g.49218508C>G | CA412964677 | CACNA1F | c.2875G>C (p.Val959Leu) c.2713G>C (p.Val905Leu) c.2908G>C (p.Val970Leu) c.142G>C (p.Val48Leu) | |
X | g.49218508C>T | CA412964678 | CACNA1F | c.2875G>A (p.Val959Ile) c.2713G>A (p.Val905Ile) c.2908G>A (p.Val970Ile) c.142G>A (p.Val48Ile) | gnomAD v4 |
X | g.49218508_49218509insG | CA1132997647 | CACNA1F | c.2874_2875insC (p.Val959ArgfsTer?) c.2712_2713insC (p.Val905ArgfsTer?) c.2907_2908insC (p.Val970ArgfsTer?) c.141_142insC (p.Val48ArgfsTer?) | gnomAD v3 gnomAD v4 |
X | g.49218509T>A | CA516377518 | CACNA1F | c.2874A>T (p.Arg958=) c.2712A>T (p.Arg904=) c.2907A>T (p.Arg969=) c.141A>T (p.Arg47=) | |
X | g.49218509T>C | CA516377519 | CACNA1F | c.2874A>G (p.Arg958=) c.2712A>G (p.Arg904=) c.2907A>G (p.Arg969=) c.141A>G (p.Arg47=) | |
X | g.49218509T>G | CA516377520 | CACNA1F | c.2874A>C (p.Arg958=) c.2712A>C (p.Arg904=) c.2907A>C (p.Arg969=) c.141A>C (p.Arg47=) | gnomAD v3 gnomAD v4 |
X | g.49218510C>A | CA10410584 | CACNA1F | c.2873G>T (p.Arg958Leu) c.2711G>T (p.Arg904Leu) c.2906G>T (p.Arg969Leu) c.140G>T (p.Arg47Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49218510C= | CA2428540389 | CACNA1F | c.2873G= (p.Arg958=) c.2711G= (p.Arg904=) c.2906G= (p.Arg969=) c.140G= (p.Arg47=) | |
X | g.49218510C>G | CA412964680 | CACNA1F | c.2873G>C (p.Arg958Pro) c.2711G>C (p.Arg904Pro) c.2906G>C (p.Arg969Pro) c.140G>C (p.Arg47Pro) | gnomAD v4 |
X | g.49218510C>T | CA412964681 | CACNA1F | c.2873G>A (p.Arg958Gln) c.2711G>A (p.Arg904Gln) c.2906G>A (p.Arg969Gln) c.140G>A (p.Arg47Gln) | ClinVar dbSNP gnomAD v4 |
X | g.49218511G>A | CA255938 | CACNA1F | c.2872C>T (p.Arg958Ter) c.2710C>T (p.Arg904Ter) c.2905C>T (p.Arg969Ter) c.139C>T (p.Arg47Ter) | ClinVar dbSNP gnomAD v4 |
X | g.49218511G>C | CA412964682 | CACNA1F | c.2872C>G (p.Arg958Gly) c.2710C>G (p.Arg904Gly) c.2905C>G (p.Arg969Gly) c.139C>G (p.Arg47Gly) | |
X | g.49218511G= | CA2428540390 | CACNA1F | c.2872C= (p.Arg958=) c.2710C= (p.Arg904=) c.2905C= (p.Arg969=) c.139C= (p.Arg47=) | |
X | g.49218511G>T | CA516377521 | CACNA1F | c.2872C>A (p.Arg958=) c.2710C>A (p.Arg904=) c.2905C>A (p.Arg969=) c.139C>A (p.Arg47=) | gnomAD v4 |
X | g.49218512C>A | CA516377522 | CACNA1F | c.2871G>T (p.Leu957=) c.2709G>T (p.Leu903=) c.2904G>T (p.Leu968=) c.138G>T (p.Leu46=) | gnomAD v4 |
X | g.49218512C= | CA2428540391 | CACNA1F | c.2871G= (p.Leu957=) c.2709G= (p.Leu903=) c.2904G= (p.Leu968=) c.138G= (p.Leu46=) | |
X | g.49218512C>G | CA516377524 | CACNA1F | c.2871G>C (p.Leu957=) c.2709G>C (p.Leu903=) c.2904G>C (p.Leu968=) c.138G>C (p.Leu46=) | |
X | g.49218512C>T | CA516377523 | CACNA1F | c.2871G>A (p.Leu957=) c.2709G>A (p.Leu903=) c.2904G>A (p.Leu968=) c.138G>A (p.Leu46=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49218512_49218521del | CA1132997654 | CACNA1F | c.2862_2871del (p.Lys955GlufsTer?) c.2700_2709del (p.Lys901GlufsTer?) c.2895_2904del (p.Lys966GlufsTer?) c.129_138del (p.Lys44GlufsTer?) | gnomAD v3 gnomAD v4 |
X | g.49218513A>C | CA412964683 | CACNA1F | c.2870T>G (p.Leu957Arg) c.2708T>G (p.Leu903Arg) c.2903T>G (p.Leu968Arg) c.137T>G (p.Leu46Arg) | |
X | g.49218513A>G | CA412964685 | CACNA1F | c.2870T>C (p.Leu957Pro) c.2708T>C (p.Leu903Pro) c.2903T>C (p.Leu968Pro) c.137T>C (p.Leu46Pro) | gnomAD v4 |
X | g.49218513A>T | CA412964684 | CACNA1F | c.2870T>A (p.Leu957Gln) c.2708T>A (p.Leu903Gln) c.2903T>A (p.Leu968Gln) c.137T>A (p.Leu46Gln) | |
X | g.49218514G>A | CA516377525 | CACNA1F | c.2869C>T (p.Leu957=) c.2707C>T (p.Leu903=) c.2902C>T (p.Leu968=) c.136C>T (p.Leu46=) | |
X | g.49218514G>C | CA412964686 | CACNA1F | c.2869C>G (p.Leu957Val) c.2707C>G (p.Leu903Val) c.2902C>G (p.Leu968Val) c.136C>G (p.Leu46Val) | |
X | g.49218514G>T | CA412964687 | CACNA1F | c.2869C>A (p.Leu957Met) c.2707C>A (p.Leu903Met) c.2902C>A (p.Leu968Met) c.136C>A (p.Leu46Met) | gnomAD v4 |
X | g.49218515A>C | CA412964688 | CACNA1F | c.2868T>G (p.Ile956Met) c.2706T>G (p.Ile902Met) c.2901T>G (p.Ile967Met) c.135T>G (p.Ile45Met) | |
X | g.49218515A>G | CA516377526 | CACNA1F | c.2868T>C (p.Ile956=) c.2706T>C (p.Ile902=) c.2901T>C (p.Ile967=) c.135T>C (p.Ile45=) | |
X | g.49218515A>T | CA516377527 | CACNA1F | c.2868T>A (p.Ile956=) c.2706T>A (p.Ile902=) c.2901T>A (p.Ile967=) c.135T>A (p.Ile45=) | gnomAD v4 |
X | g.49218516A>C | CA412964689 | CACNA1F | c.2867T>G (p.Ile956Ser) c.2705T>G (p.Ile902Ser) c.2900T>G (p.Ile967Ser) c.134T>G (p.Ile45Ser) | |
X | g.49218516A>G | CA412964690 | CACNA1F | c.2867T>C (p.Ile956Thr) c.2705T>C (p.Ile902Thr) c.2900T>C (p.Ile967Thr) c.134T>C (p.Ile45Thr) | |
X | g.49218516A>T | CA412964691 | CACNA1F | c.2867T>A (p.Ile956Asn) c.2705T>A (p.Ile902Asn) c.2900T>A (p.Ile967Asn) c.134T>A (p.Ile45Asn) | |
X | g.49218517T>A | CA412964692 | CACNA1F | c.2866A>T (p.Ile956Phe) c.2704A>T (p.Ile902Phe) c.2899A>T (p.Ile967Phe) c.133A>T (p.Ile45Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49218517T>C | CA412964693 | CACNA1F | c.2866A>G (p.Ile956Val) c.2704A>G (p.Ile902Val) c.2899A>G (p.Ile967Val) c.133A>G (p.Ile45Val) | |
X | g.49218517T>G | CA412964694 | CACNA1F | c.2866A>C (p.Ile956Leu) c.2704A>C (p.Ile902Leu) c.2899A>C (p.Ile967Leu) c.133A>C (p.Ile45Leu) | |
X | g.49218517T= | CA2428540392 | CACNA1F | c.2866A= (p.Ile956=) c.2704A= (p.Ile902=) c.2899A= (p.Ile967=) c.133A= (p.Ile45=) | |
X | g.49218518C>A | CA412964695 | CACNA1F | c.2865G>T (p.Lys955Asn) c.2703G>T (p.Lys901Asn) c.2898G>T (p.Lys966Asn) c.132G>T (p.Lys44Asn) | gnomAD v4 |
X | g.49218518C>G | CA412964696 | CACNA1F | c.2865G>C (p.Lys955Asn) c.2703G>C (p.Lys901Asn) c.2898G>C (p.Lys966Asn) c.132G>C (p.Lys44Asn) | |
X | g.49218518C>T | CA516377528 | CACNA1F | c.2865G>A (p.Lys955=) c.2703G>A (p.Lys901=) c.2898G>A (p.Lys966=) c.132G>A (p.Lys44=) | gnomAD v3 gnomAD v4 |
X | g.49218519T>A | CA412964697 | CACNA1F | c.2864A>T (p.Lys955Met) c.2702A>T (p.Lys901Met) c.2897A>T (p.Lys966Met) c.131A>T (p.Lys44Met) | |
X | g.49218519T>C | CA412964699 | CACNA1F | c.2864A>G (p.Lys955Arg) c.2702A>G (p.Lys901Arg) c.2897A>G (p.Lys966Arg) c.131A>G (p.Lys44Arg) | |
X | g.49218519T>G | CA412964698 | CACNA1F | c.2864A>C (p.Lys955Thr) c.2702A>C (p.Lys901Thr) c.2897A>C (p.Lys966Thr) c.131A>C (p.Lys44Thr) | |
X | g.49218520T>A | CA412964700 | CACNA1F | c.2863A>T (p.Lys955Ter) c.2701A>T (p.Lys901Ter) c.2896A>T (p.Lys966Ter) c.130A>T (p.Lys44Ter) | |
X | g.49218520T>C | CA412964701 | CACNA1F | c.2863A>G (p.Lys955Glu) c.2701A>G (p.Lys901Glu) c.2896A>G (p.Lys966Glu) c.130A>G (p.Lys44Glu) | |
X | g.49218520T>G | CA412964702 | CACNA1F | c.2863A>C (p.Lys955Gln) c.2701A>C (p.Lys901Gln) c.2896A>C (p.Lys966Gln) c.130A>C (p.Lys44Gln) | |
X | g.49218521C>A | CA516377529 | CACNA1F | c.2862G>T (p.Val954=) c.2700G>T (p.Val900=) c.2895G>T (p.Val965=) c.129G>T (p.Val43=) | |
X | g.49218521C>G | CA516377530 | CACNA1F | c.2862G>C (p.Val954=) c.2700G>C (p.Val900=) c.2895G>C (p.Val965=) c.129G>C (p.Val43=) | |
X | g.49218521C>T | CA516377531 | CACNA1F | c.2862G>A (p.Val954=) c.2700G>A (p.Val900=) c.2895G>A (p.Val965=) c.129G>A (p.Val43=) | gnomAD v4 |
X | g.49218522A>C | CA412964703 | CACNA1F | c.2861T>G (p.Val954Gly) c.2699T>G (p.Val900Gly) c.2894T>G (p.Val965Gly) c.128T>G (p.Val43Gly) | |
X | g.49218522A>G | CA412964704 | CACNA1F | c.2861T>C (p.Val954Ala) c.2699T>C (p.Val900Ala) c.2894T>C (p.Val965Ala) c.128T>C (p.Val43Ala) | |
X | g.49218522A>T | CA412964705 | CACNA1F | c.2861T>A (p.Val954Glu) c.2699T>A (p.Val900Glu) c.2894T>A (p.Val965Glu) c.128T>A (p.Val43Glu) | |
X | g.49218523C>A | CA412964706 | CACNA1F | c.2860G>T (p.Val954Leu) c.2698G>T (p.Val900Leu) c.2893G>T (p.Val965Leu) c.127G>T (p.Val43Leu) | |
X | g.49218523C>G | CA412964707 | CACNA1F | c.2860G>C (p.Val954Leu) c.2698G>C (p.Val900Leu) c.2893G>C (p.Val965Leu) c.127G>C (p.Val43Leu) | |
X | g.49218523C>T | CA412964708 | CACNA1F | c.2860G>A (p.Val954Met) c.2698G>A (p.Val900Met) c.2893G>A (p.Val965Met) c.127G>A (p.Val43Met) | gnomAD v4 |
X | g.49218524dup | CA2839076853 | CACNA1F | c.2860dup (p.Val954GlyfsTer?) c.2698dup (p.Val900GlyfsTer?) c.2893dup (p.Val965GlyfsTer?) c.127dup (p.Val43GlyfsTer?) | |
X | g.49218524C>A | CA516377532 | CACNA1F | c.2859G>T (p.Val953=) c.2697G>T (p.Val899=) c.2892G>T (p.Val964=) c.126G>T (p.Val42=) | gnomAD v4 |
X | g.49218524C>G | CA516377533 | CACNA1F | c.2859G>C (p.Val953=) c.2697G>C (p.Val899=) c.2892G>C (p.Val964=) c.126G>C (p.Val42=) | |
X | g.49218524C>T | CA516377534 | CACNA1F | c.2859G>A (p.Val953=) c.2697G>A (p.Val899=) c.2892G>A (p.Val964=) c.126G>A (p.Val42=) | |
X | g.49218525A>C | CA412964709 | CACNA1F | c.2858T>G (p.Val953Gly) c.2696T>G (p.Val899Gly) c.2891T>G (p.Val964Gly) c.125T>G (p.Val42Gly) | |
X | g.49218525A>G | CA412964710 | CACNA1F | c.2858T>C (p.Val953Ala) c.2696T>C (p.Val899Ala) c.2891T>C (p.Val964Ala) c.125T>C (p.Val42Ala) | |
X | g.49218525A>T | CA412964711 | CACNA1F | c.2858T>A (p.Val953Glu) c.2696T>A (p.Val899Glu) c.2891T>A (p.Val964Glu) c.125T>A (p.Val42Glu) | |
X | g.49218526C>A | CA412964714 | CACNA1F | c.2857G>T (p.Val953Leu) c.2695G>T (p.Val899Leu) c.2890G>T (p.Val964Leu) c.124G>T (p.Val42Leu) | gnomAD v4 |
X | g.49218526C= | CA2428540393 | CACNA1F | c.2857G= (p.Val953=) c.2695G= (p.Val899=) c.2890G= (p.Val964=) c.124G= (p.Val42=) | |
X | g.49218526C>G | CA412964712 | CACNA1F | c.2857G>C (p.Val953Leu) c.2695G>C (p.Val899Leu) c.2890G>C (p.Val964Leu) c.124G>C (p.Val42Leu) | |
X | g.49218526C>T | CA412964713 | CACNA1F | c.2857G>A (p.Val953Met) c.2695G>A (p.Val899Met) c.2890G>A (p.Val964Met) c.124G>A (p.Val42Met) | dbSNP gnomAD v2 gnomAD v4 |