Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.49216104_49216331del | CA2820835041 | CACNA1F | c.3236+59_3236+286del (n.3236+59_3236+286del) c.3074+59_3074+286del (n.3074+59_3074+286del) c.3269+59_3269+286del (n.3269+59_3269+286del) c.503+59_503+286del (n.503+59_503+286del) | |
X | g.49216318C>T | CA2693715809 | CACNA1F | c.3236+64G>A (n.3236+64G>A) c.3074+64G>A (n.3074+64G>A) c.3269+64G>A (n.3269+64G>A) c.503+64G>A (n.503+64G>A) | gnomAD v4 |
X | g.49216319C= | CA2428539682 | CACNA1F | c.3236+63G= (n.3236+63G=) c.3074+63G= (n.3074+63G=) c.3269+63G= (n.3269+63G=) c.503+63G= (n.503+63G=) | |
X | g.49216319C>G | CA875949663 | CACNA1F | c.3236+63G>C (n.3236+63G>C) c.3074+63G>C (n.3074+63G>C) c.3269+63G>C (n.3269+63G>C) c.503+63G>C (n.503+63G>C) | dbSNP gnomAD v4 |
X | g.49216320C= | CA2428539683 | CACNA1F | c.3236+62G= (n.3236+62G=) c.3074+62G= (n.3074+62G=) c.3269+62G= (n.3269+62G=) c.503+62G= (n.503+62G=) | |
X | g.49216320C>T | CA516377266 | CACNA1F | c.3236+62G>A (n.3236+62G>A) c.3074+62G>A (n.3074+62G>A) c.3269+62G>A (n.3269+62G>A) c.503+62G>A (n.503+62G>A) | dbSNP gnomAD v4 |
X | g.49216321A= | CA2428539684 | CACNA1F | c.3236+61T= (n.3236+61T=) c.3074+61T= (n.3074+61T=) c.3269+61T= (n.3269+61T=) c.503+61T= (n.503+61T=) | |
X | g.49216321A>G | CA1132973817 | CACNA1F | c.3236+61T>C (n.3236+61T>C) c.3074+61T>C (n.3074+61T>C) c.3269+61T>C (n.3269+61T>C) c.503+61T>C (n.503+61T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49216321A>T | CA2820835073 | CACNA1F | c.3236+61T>A (n.3236+61T>A) c.3074+61T>A (n.3074+61T>A) c.3269+61T>A (n.3269+61T>A) c.503+61T>A (n.503+61T>A) | |
X | g.49216322A>T | CA2693715830 | CACNA1F | c.3236+60T>A (n.3236+60T>A) c.3074+60T>A (n.3074+60T>A) c.3269+60T>A (n.3269+60T>A) c.503+60T>A (n.503+60T>A) | gnomAD v4 |
X | g.49216323C>T | CA2693715833 | CACNA1F | c.3236+59G>A (n.3236+59G>A) c.3074+59G>A (n.3074+59G>A) c.3269+59G>A (n.3269+59G>A) c.503+59G>A (n.503+59G>A) | gnomAD v4 |
X | g.49216324C>A | CA2693715836 | CACNA1F | c.3236+58G>T (n.3236+58G>T) c.3074+58G>T (n.3074+58G>T) c.3269+58G>T (n.3269+58G>T) c.503+58G>T (n.503+58G>T) | gnomAD v4 |
X | g.49216325C>A | CA2693715837 | CACNA1F | c.3236+57G>T (n.3236+57G>T) c.3074+57G>T (n.3074+57G>T) c.3269+57G>T (n.3269+57G>T) c.503+57G>T (n.503+57G>T) | gnomAD v4 |
X | g.49216325C>T | CA2693715840 | CACNA1F | c.3236+57G>A (n.3236+57G>A) c.3074+57G>A (n.3074+57G>A) c.3269+57G>A (n.3269+57G>A) c.503+57G>A (n.503+57G>A) | gnomAD v4 |
X | g.49216327A= | CA2428539685 | CACNA1F | c.3236+55T= (n.3236+55T=) c.3074+55T= (n.3074+55T=) c.3269+55T= (n.3269+55T=) c.503+55T= (n.503+55T=) | |
X | g.49216327A>G | CA329140180 | CACNA1F | c.3236+55T>C (n.3236+55T>C) c.3074+55T>C (n.3074+55T>C) c.3269+55T>C (n.3269+55T>C) c.503+55T>C (n.503+55T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216329C>A | CA2693715846 | CACNA1F | c.3236+53G>T (n.3236+53G>T) c.3074+53G>T (n.3074+53G>T) c.3269+53G>T (n.3269+53G>T) c.503+53G>T (n.503+53G>T) | gnomAD v4 |
X | g.49216332G>A | CA10410505 | CACNA1F | c.3236+50C>T (n.3236+50C>T) c.3074+50C>T (n.3074+50C>T) c.3269+50C>T (n.3269+50C>T) c.503+50C>T (n.503+50C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.49216332G= | CA2428539686 | CACNA1F | c.3236+50C= (n.3236+50C=) c.3074+50C= (n.3074+50C=) c.3269+50C= (n.3269+50C=) c.503+50C= (n.503+50C=) | |
X | g.49216332G>T | CA2693715849 | CACNA1F | c.3236+50C>A (n.3236+50C>A) c.3074+50C>A (n.3074+50C>A) c.3269+50C>A (n.3269+50C>A) c.503+50C>A (n.503+50C>A) | gnomAD v4 |
X | g.49216334A>G | CA2693715851 | CACNA1F | c.3236+48T>C (n.3236+48T>C) c.3074+48T>C (n.3074+48T>C) c.3269+48T>C (n.3269+48T>C) c.503+48T>C (n.503+48T>C) | gnomAD v4 |
X | g.49216334A>T | CA2693715853 | CACNA1F | c.3236+48T>A (n.3236+48T>A) c.3074+48T>A (n.3074+48T>A) c.3269+48T>A (n.3269+48T>A) c.503+48T>A (n.503+48T>A) | gnomAD v4 |
X | g.49216335G>A | CA2693715857 | CACNA1F | c.3236+47C>T (n.3236+47C>T) c.3074+47C>T (n.3074+47C>T) c.3269+47C>T (n.3269+47C>T) c.503+47C>T (n.503+47C>T) | gnomAD v4 |
X | g.49216335G>T | CA2693715859 | CACNA1F | c.3236+47C>A (n.3236+47C>A) c.3074+47C>A (n.3074+47C>A) c.3269+47C>A (n.3269+47C>A) c.503+47C>A (n.503+47C>A) | gnomAD v4 |
X | g.49216337G>C | CA875949670 | CACNA1F | c.3236+45C>G (n.3236+45C>G) c.3074+45C>G (n.3074+45C>G) c.3269+45C>G (n.3269+45C>G) c.503+45C>G (n.503+45C>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49216337G= | CA2428539687 | CACNA1F | c.3236+45C= (n.3236+45C=) c.3074+45C= (n.3074+45C=) c.3269+45C= (n.3269+45C=) c.503+45C= (n.503+45C=) | |
X | g.49216337G>T | CA2579607584 | CACNA1F | c.3236+45C>A (n.3236+45C>A) c.3074+45C>A (n.3074+45C>A) c.3269+45C>A (n.3269+45C>A) c.503+45C>A (n.503+45C>A) | |
X | g.49216339C>A | CA10410506 | CACNA1F | c.3236+43G>T (n.3236+43G>T) c.3074+43G>T (n.3074+43G>T) c.3269+43G>T (n.3269+43G>T) c.503+43G>T (n.503+43G>T) | dbSNP ExAC gnomAD v4 |
X | g.49216339C= | CA2428539688 | CACNA1F | c.3236+43G= (n.3236+43G=) c.3074+43G= (n.3074+43G=) c.3269+43G= (n.3269+43G=) c.503+43G= (n.503+43G=) | |
X | g.49216339C>T | CA2693715866 | CACNA1F | c.3236+43G>A (n.3236+43G>A) c.3074+43G>A (n.3074+43G>A) c.3269+43G>A (n.3269+43G>A) c.503+43G>A (n.503+43G>A) | gnomAD v4 |
X | g.49216342del | CA2579607585 | CACNA1F | c.3236+43del (n.3236+43del) c.3074+43del (n.3074+43del) c.3269+43del (n.3269+43del) c.503+43del (n.503+43del) | |
X | g.49216340C>A | CA2693715869 | CACNA1F | c.3236+42G>T (n.3236+42G>T) c.3074+42G>T (n.3074+42G>T) c.3269+42G>T (n.3269+42G>T) c.503+42G>T (n.503+42G>T) | gnomAD v4 |
X | g.49216340C>T | CA2738725240 | CACNA1F | c.3236+42G>A (n.3236+42G>A) c.3074+42G>A (n.3074+42G>A) c.3269+42G>A (n.3269+42G>A) c.503+42G>A (n.503+42G>A) | dbSNP |
X | g.49216341C>G | CA2693715870 | CACNA1F | c.3236+41G>C (n.3236+41G>C) c.3074+41G>C (n.3074+41G>C) c.3269+41G>C (n.3269+41G>C) c.503+41G>C (n.503+41G>C) | gnomAD v4 |
X | g.49216341C>T | CA2579607586 | CACNA1F | c.3236+41G>A (n.3236+41G>A) c.3074+41G>A (n.3074+41G>A) c.3269+41G>A (n.3269+41G>A) c.503+41G>A (n.503+41G>A) | |
X | g.49216344G>T | CA2693715871 | CACNA1F | c.3236+38C>A (n.3236+38C>A) c.3074+38C>A (n.3074+38C>A) c.3269+38C>A (n.3269+38C>A) c.503+38C>A (n.503+38C>A) | gnomAD v4 |
X | g.49216345C= | CA2428539689 | CACNA1F | c.3236+37G= (n.3236+37G=) c.3074+37G= (n.3074+37G=) c.3269+37G= (n.3269+37G=) c.503+37G= (n.503+37G=) | |
X | g.49216345C>T | CA641531062 | CACNA1F | c.3236+37G>A (n.3236+37G>A) c.3074+37G>A (n.3074+37G>A) c.3269+37G>A (n.3269+37G>A) c.503+37G>A (n.503+37G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49216346C= | CA2428539690 | CACNA1F | c.3236+36G= (n.3236+36G=) c.3074+36G= (n.3074+36G=) c.3269+36G= (n.3269+36G=) c.503+36G= (n.503+36G=) | |
X | g.49216346C>T | CA10410507 | CACNA1F | c.3236+36G>A (n.3236+36G>A) c.3074+36G>A (n.3074+36G>A) c.3269+36G>A (n.3269+36G>A) c.503+36G>A (n.503+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216347T>C | CA2693715874 | CACNA1F | c.3236+35A>G (n.3236+35A>G) c.3074+35A>G (n.3074+35A>G) c.3269+35A>G (n.3269+35A>G) c.503+35A>G (n.503+35A>G) | gnomAD v4 |
X | g.49216350T>A | CA2428539692 | CACNA1F | c.3236+32A>T (n.3236+32A>T) c.3074+32A>T (n.3074+32A>T) c.3269+32A>T (n.3269+32A>T) c.503+32A>T (n.503+32A>T) | dbSNP |
X | g.49216350T>C | CA2693715875 | CACNA1F | c.3236+32A>G (n.3236+32A>G) c.3074+32A>G (n.3074+32A>G) c.3269+32A>G (n.3269+32A>G) c.503+32A>G (n.503+32A>G) | gnomAD v4 |
X | g.49216350T= | CA2428539691 | CACNA1F | c.3236+32A= (n.3236+32A=) c.3074+32A= (n.3074+32A=) c.3269+32A= (n.3269+32A=) c.503+32A= (n.503+32A=) | |
X | g.49216351C= | CA2428539693 | CACNA1F | c.3236+31G= (n.3236+31G=) c.3074+31G= (n.3074+31G=) c.3269+31G= (n.3269+31G=) c.503+31G= (n.503+31G=) | |
X | g.49216351C>T | CA10410508 | CACNA1F | c.3236+31G>A (n.3236+31G>A) c.3074+31G>A (n.3074+31G>A) c.3269+31G>A (n.3269+31G>A) c.503+31G>A (n.503+31G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.49216351_49216359del | CA2820835084 | CACNA1F | c.3236+23_3236+31del (n.3236+23_3236+31del) c.3074+23_3074+31del (n.3074+23_3074+31del) c.3269+23_3269+31del (n.3269+23_3269+31del) c.503+23_503+31del (n.503+23_503+31del) | |
X | g.49216352C>T | CA2693715879 | CACNA1F | c.3236+30G>A (n.3236+30G>A) c.3074+30G>A (n.3074+30G>A) c.3269+30G>A (n.3269+30G>A) c.503+30G>A (n.503+30G>A) | gnomAD v4 |
X | g.49216354C>A | CA2500412068 | CACNA1F | c.3236+28G>T (n.3236+28G>T) c.3074+28G>T (n.3074+28G>T) c.3269+28G>T (n.3269+28G>T) c.503+28G>T (n.503+28G>T) | |
X | g.49216354C= | CA2428539694 | CACNA1F | c.3236+28G= (n.3236+28G=) c.3074+28G= (n.3074+28G=) c.3269+28G= (n.3269+28G=) c.503+28G= (n.503+28G=) | |
X | g.49216354C>T | CA10410509 | CACNA1F | c.3236+28G>A (n.3236+28G>A) c.3074+28G>A (n.3074+28G>A) c.3269+28G>A (n.3269+28G>A) c.503+28G>A (n.503+28G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.49216355T>C | CA2693715882 | CACNA1F | c.3236+27A>G (n.3236+27A>G) c.3074+27A>G (n.3074+27A>G) c.3269+27A>G (n.3269+27A>G) c.503+27A>G (n.503+27A>G) | gnomAD v4 |
X | g.49216355T>G | CA2693715883 | CACNA1F | c.3236+27A>C (n.3236+27A>C) c.3074+27A>C (n.3074+27A>C) c.3269+27A>C (n.3269+27A>C) c.503+27A>C (n.503+27A>C) | gnomAD v4 |
X | g.49216356G>A | CA2693715885 | CACNA1F | c.3236+26C>T (n.3236+26C>T) c.3074+26C>T (n.3074+26C>T) c.3269+26C>T (n.3269+26C>T) c.503+26C>T (n.503+26C>T) | gnomAD v4 |
X | g.49216356G>T | CA658000922 | CACNA1F | c.3236+26C>A (n.3236+26C>A) c.3074+26C>A (n.3074+26C>A) c.3269+26C>A (n.3269+26C>A) c.503+26C>A (n.503+26C>A) | COSMIC |
X | g.49216357A= | CA2428539695 | CACNA1F | c.3236+25T= (n.3236+25T=) c.3074+25T= (n.3074+25T=) c.3269+25T= (n.3269+25T=) c.503+25T= (n.503+25T=) | |
X | g.49216357A>C | CA10410510 | CACNA1F | c.3236+25T>G (n.3236+25T>G) c.3074+25T>G (n.3074+25T>G) c.3269+25T>G (n.3269+25T>G) c.503+25T>G (n.503+25T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.49216359A>G | CA2693715892 | CACNA1F | c.3236+23T>C (n.3236+23T>C) c.3074+23T>C (n.3074+23T>C) c.3269+23T>C (n.3269+23T>C) c.503+23T>C (n.503+23T>C) | gnomAD v4 |
X | g.49216359A>T | CA2693715893 | CACNA1F | c.3236+23T>A (n.3236+23T>A) c.3074+23T>A (n.3074+23T>A) c.3269+23T>A (n.3269+23T>A) c.503+23T>A (n.503+23T>A) | gnomAD v4 |
X | g.49216361A= | CA2428539696 | CACNA1F | c.3236+21T= (n.3236+21T=) c.3074+21T= (n.3074+21T=) c.3269+21T= (n.3269+21T=) c.503+21T= (n.503+21T=) | |
X | g.49216361A>G | CA10410511 | CACNA1F | c.3236+21T>C (n.3236+21T>C) c.3074+21T>C (n.3074+21T>C) c.3269+21T>C (n.3269+21T>C) c.503+21T>C (n.503+21T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.49216362C>A | CA2693715896 | CACNA1F | c.3236+20G>T (n.3236+20G>T) c.3074+20G>T (n.3074+20G>T) c.3269+20G>T (n.3269+20G>T) c.503+20G>T (n.503+20G>T) | gnomAD v4 |
X | g.49216362C= | CA2428539697 | CACNA1F | c.3236+20G= (n.3236+20G=) c.3074+20G= (n.3074+20G=) c.3269+20G= (n.3269+20G=) c.503+20G= (n.503+20G=) | |
X | g.49216362C>G | CA2693715897 | CACNA1F | c.3236+20G>C (n.3236+20G>C) c.3074+20G>C (n.3074+20G>C) c.3269+20G>C (n.3269+20G>C) c.503+20G>C (n.503+20G>C) | ClinVar gnomAD v4 |
X | g.49216362C>T | CA641531063 | CACNA1F | c.3236+20G>A (n.3236+20G>A) c.3074+20G>A (n.3074+20G>A) c.3269+20G>A (n.3269+20G>A) c.503+20G>A (n.503+20G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.49216363C= | CA2428539698 | CACNA1F | c.3236+19G= (n.3236+19G=) c.3074+19G= (n.3074+19G=) c.3269+19G= (n.3269+19G=) c.503+19G= (n.503+19G=) | |
X | g.49216363C>G | CA641531064 | CACNA1F | c.3236+19G>C (n.3236+19G>C) c.3074+19G>C (n.3074+19G>C) c.3269+19G>C (n.3269+19G>C) c.503+19G>C (n.503+19G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216364C>A | CA2502184530 | CACNA1F | c.3236+18G>T (n.3236+18G>T) c.3074+18G>T (n.3074+18G>T) c.3269+18G>T (n.3269+18G>T) c.503+18G>T (n.503+18G>T) | |
X | g.49216367G>T | CA2563792617 | CACNA1F | c.3236+15C>A (n.3236+15C>A) c.3074+15C>A (n.3074+15C>A) c.3269+15C>A (n.3269+15C>A) c.503+15C>A (n.503+15C>A) | |
X | g.49216369C>A | CA875949680 | CACNA1F | c.3236+13G>T (n.3236+13G>T) c.3074+13G>T (n.3074+13G>T) c.3269+13G>T (n.3269+13G>T) c.503+13G>T (n.503+13G>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49216369C= | CA2428539699 | CACNA1F | c.3236+13G= (n.3236+13G=) c.3074+13G= (n.3074+13G=) c.3269+13G= (n.3269+13G=) c.503+13G= (n.503+13G=) | |
X | g.49216369C>T | CA2693715899 | CACNA1F | c.3236+13G>A (n.3236+13G>A) c.3074+13G>A (n.3074+13G>A) c.3269+13G>A (n.3269+13G>A) c.503+13G>A (n.503+13G>A) | gnomAD v4 |
X | g.49216370C>A | CA2738725254 | CACNA1F | c.3236+12G>T (n.3236+12G>T) c.3074+12G>T (n.3074+12G>T) c.3269+12G>T (n.3269+12G>T) c.503+12G>T (n.503+12G>T) | dbSNP |
X | g.49216370C>T | CA2741749088 | CACNA1F | c.3236+12G>A (n.3236+12G>A) c.3074+12G>A (n.3074+12G>A) c.3269+12G>A (n.3269+12G>A) c.503+12G>A (n.503+12G>A) | |
X | g.49216372T>C | CA2693715902 | CACNA1F | c.3236+10A>G (n.3236+10A>G) c.3074+10A>G (n.3074+10A>G) c.3269+10A>G (n.3269+10A>G) c.503+10A>G (n.503+10A>G) | gnomAD v4 |
X | g.49216374T>C | CA2428539701 | CACNA1F | c.3236+8A>G (n.3236+8A>G) c.3074+8A>G (n.3074+8A>G) c.3269+8A>G (n.3269+8A>G) c.503+8A>G (n.503+8A>G) | dbSNP |
X | g.49216374T= | CA2428539700 | CACNA1F | c.3236+8A= (n.3236+8A=) c.3074+8A= (n.3074+8A=) c.3269+8A= (n.3269+8A=) c.503+8A= (n.503+8A=) | |
X | g.49216375C>T | CA2697553106 | CACNA1F | c.3236+7G>A (n.3236+7G>A) c.3074+7G>A (n.3074+7G>A) c.3269+7G>A (n.3269+7G>A) c.503+7G>A (n.503+7G>A) | ClinVar |
X | g.49216378T>C | CA2428539703 | CACNA1F | c.3236+4A>G (n.3236+4A>G) c.3074+4A>G (n.3074+4A>G) c.3269+4A>G (n.3269+4A>G) c.503+4A>G (n.503+4A>G) | dbSNP gnomAD v4 |
X | g.49216378T= | CA2428539702 | CACNA1F | c.3236+4A= (n.3236+4A=) c.3074+4A= (n.3074+4A=) c.3269+4A= (n.3269+4A=) c.503+4A= (n.503+4A=) | |
X | g.49216379C= | CA2428539704 | CACNA1F | c.3236+3G= (n.3236+3G=) c.3074+3G= (n.3074+3G=) c.3269+3G= (n.3269+3G=) c.503+3G= (n.503+3G=) | |
X | g.49216379C>T | CA10410512 | CACNA1F | c.3236+3G>A (n.3236+3G>A) c.3074+3G>A (n.3074+3G>A) c.3269+3G>A (n.3269+3G>A) c.503+3G>A (n.503+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216380A>C | CA412963846 | CACNA1F | c.3236+2T>G (n.3236+2T>G) c.3074+2T>G (n.3074+2T>G) c.3269+2T>G (n.3269+2T>G) c.503+2T>G (n.503+2T>G) | |
X | g.49216380A>G | CA412963844 | CACNA1F | c.3236+2T>C (n.3236+2T>C) c.3074+2T>C (n.3074+2T>C) c.3269+2T>C (n.3269+2T>C) c.503+2T>C (n.503+2T>C) | |
X | g.49216380A>T | CA412963845 | CACNA1F | c.3236+2T>A (n.3236+2T>A) c.3074+2T>A (n.3074+2T>A) c.3269+2T>A (n.3269+2T>A) c.503+2T>A (n.503+2T>A) | |
X | g.49216381C>A | CA412963847 | CACNA1F | c.3236+1G>T (n.3236+1G>T) c.3074+1G>T (n.3074+1G>T) c.3269+1G>T (n.3269+1G>T) c.503+1G>T (n.503+1G>T) | gnomAD v4 |
X | g.49216381C= | CA2428539705 | CACNA1F | c.3236+1G= (n.3236+1G=) c.3074+1G= (n.3074+1G=) c.3269+1G= (n.3269+1G=) c.503+1G= (n.503+1G=) | |
X | g.49216381C>G | CA412963848 | CACNA1F | c.3236+1G>C (n.3236+1G>C) c.3074+1G>C (n.3074+1G>C) c.3269+1G>C (n.3269+1G>C) c.503+1G>C (n.503+1G>C) | |
X | g.49216381C>T | CA16621894 | CACNA1F | c.3236+1G>A (n.3236+1G>A) c.3074+1G>A (n.3074+1G>A) c.3269+1G>A (n.3269+1G>A) c.503+1G>A (n.503+1G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.49216382G>A | CA10410513 | CACNA1F | c.3236C>T (p.Ala1079Val) c.3074C>T (p.Ala1025Val) c.3269C>T (p.Ala1090Val) c.503C>T (p.Ala168Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.49216382G>C | CA412963849 | CACNA1F | c.3236C>G (p.Ala1079Gly) c.3074C>G (p.Ala1025Gly) c.3269C>G (p.Ala1090Gly) c.503C>G (p.Ala168Gly) | |
X | g.49216382G= | CA2428539706 | CACNA1F | c.3236C= (p.Ala1079=) c.3074C= (p.Ala1025=) c.3269C= (p.Ala1090=) c.503C= (p.Ala168=) | |
X | g.49216382G>T | CA412963850 | CACNA1F | c.3236C>A (p.Ala1079Glu) c.3074C>A (p.Ala1025Glu) c.3269C>A (p.Ala1090Glu) c.503C>A (p.Ala168Glu) | |
X | g.49216383C>A | CA412963851 | CACNA1F | c.3235G>T (p.Ala1079Ser) c.3073G>T (p.Ala1025Ser) c.3268G>T (p.Ala1090Ser) c.502G>T (p.Ala168Ser) | |
X | g.49216383C>G | CA412963852 | CACNA1F | c.3235G>C (p.Ala1079Pro) c.3073G>C (p.Ala1025Pro) c.3268G>C (p.Ala1090Pro) c.502G>C (p.Ala168Pro) | |
X | g.49216383C>T | CA412963853 | CACNA1F | c.3235G>A (p.Ala1079Thr) c.3073G>A (p.Ala1025Thr) c.3268G>A (p.Ala1090Thr) c.502G>A (p.Ala168Thr) | gnomAD v4 |
X | g.49216384A= | CA2428539707 | CACNA1F | c.3234T= (p.Pro1078=) c.3072T= (p.Pro1024=) c.3267T= (p.Pro1089=) c.501T= (p.Pro167=) | |
X | g.49216384A>C | CA516377267 | CACNA1F | c.3234T>G (p.Pro1078=) c.3072T>G (p.Pro1024=) c.3267T>G (p.Pro1089=) c.501T>G (p.Pro167=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49216384A>G | CA516377268 | CACNA1F | c.3234T>C (p.Pro1078=) c.3072T>C (p.Pro1024=) c.3267T>C (p.Pro1089=) c.501T>C (p.Pro167=) | |
X | g.49216384A>T | CA516377269 | CACNA1F | c.3234T>A (p.Pro1078=) c.3072T>A (p.Pro1024=) c.3267T>A (p.Pro1089=) c.501T>A (p.Pro167=) | |
X | g.49216385G>A | CA412963854 | CACNA1F | c.3233C>T (p.Pro1078Leu) c.3071C>T (p.Pro1024Leu) c.3266C>T (p.Pro1089Leu) c.500C>T (p.Pro167Leu) | |
X | g.49216385G>C | CA412963855 | CACNA1F | c.3233C>G (p.Pro1078Arg) c.3071C>G (p.Pro1024Arg) c.3266C>G (p.Pro1089Arg) c.500C>G (p.Pro167Arg) | |
X | g.49216385G>T | CA412963856 | CACNA1F | c.3233C>A (p.Pro1078His) c.3071C>A (p.Pro1024His) c.3266C>A (p.Pro1089His) c.500C>A (p.Pro167His) | |
X | g.49216386G>A | CA412963857 | CACNA1F | c.3232C>T (p.Pro1078Ser) c.3070C>T (p.Pro1024Ser) c.3265C>T (p.Pro1089Ser) c.499C>T (p.Pro167Ser) | |
X | g.49216386G>C | CA412963858 | CACNA1F | c.3232C>G (p.Pro1078Ala) c.3070C>G (p.Pro1024Ala) c.3265C>G (p.Pro1089Ala) c.499C>G (p.Pro167Ala) | |
X | g.49216386G>T | CA412963859 | CACNA1F | c.3232C>A (p.Pro1078Thr) c.3070C>A (p.Pro1024Thr) c.3265C>A (p.Pro1089Thr) c.499C>A (p.Pro167Thr) | |
X | g.49216387C>A | CA412963862 | CACNA1F | c.3231G>T (p.Trp1077Cys) c.3069G>T (p.Trp1023Cys) c.3264G>T (p.Trp1088Cys) c.498G>T (p.Trp166Cys) | COSMIC |
X | g.49216387C>G | CA412963860 | CACNA1F | c.3231G>C (p.Trp1077Cys) c.3069G>C (p.Trp1023Cys) c.3264G>C (p.Trp1088Cys) c.498G>C (p.Trp166Cys) | |
X | g.49216387C>T | CA412963861 | CACNA1F | c.3231G>A (p.Trp1077Ter) c.3069G>A (p.Trp1023Ter) c.3264G>A (p.Trp1088Ter) c.498G>A (p.Trp166Ter) | COSMIC |
X | g.49216388C>A | CA412963863 | CACNA1F | c.3230G>T (p.Trp1077Leu) c.3068G>T (p.Trp1023Leu) c.3263G>T (p.Trp1088Leu) c.497G>T (p.Trp166Leu) | gnomAD v4 |
X | g.49216388C>G | CA412963864 | CACNA1F | c.3230G>C (p.Trp1077Ser) c.3068G>C (p.Trp1023Ser) c.3263G>C (p.Trp1088Ser) c.497G>C (p.Trp166Ser) | |
X | g.49216388C>T | CA412963865 | CACNA1F | c.3230G>A (p.Trp1077Ter) c.3068G>A (p.Trp1023Ter) c.3263G>A (p.Trp1088Ter) c.497G>A (p.Trp166Ter) | |
X | g.49216389A>C | CA412963866 | CACNA1F | c.3229T>G (p.Trp1077Gly) c.3067T>G (p.Trp1023Gly) c.3262T>G (p.Trp1088Gly) c.496T>G (p.Trp166Gly) | |
X | g.49216389A>G | CA412963867 | CACNA1F | c.3229T>C (p.Trp1077Arg) c.3067T>C (p.Trp1023Arg) c.3262T>C (p.Trp1088Arg) c.496T>C (p.Trp166Arg) | |
X | g.49216389A>T | CA412963868 | CACNA1F | c.3229T>A (p.Trp1077Arg) c.3067T>A (p.Trp1023Arg) c.3262T>A (p.Trp1088Arg) c.496T>A (p.Trp166Arg) | |
X | g.49216390G>A | CA516377270 | CACNA1F | c.3228C>T (p.Gly1076=) c.3066C>T (p.Gly1022=) c.3261C>T (p.Gly1087=) c.495C>T (p.Gly165=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49216390G>C | CA516377271 | CACNA1F | c.3228C>G (p.Gly1076=) c.3066C>G (p.Gly1022=) c.3261C>G (p.Gly1087=) c.495C>G (p.Gly165=) | |
X | g.49216390G= | CA2428539708 | CACNA1F | c.3228C= (p.Gly1076=) c.3066C= (p.Gly1022=) c.3261C= (p.Gly1087=) c.495C= (p.Gly165=) | |
X | g.49216390G>T | CA516377272 | CACNA1F | c.3228C>A (p.Gly1076=) c.3066C>A (p.Gly1022=) c.3261C>A (p.Gly1087=) c.495C>A (p.Gly165=) | |
X | g.49216391C>A | CA412963869 | CACNA1F | c.3227G>T (p.Gly1076Val) c.3065G>T (p.Gly1022Val) c.3260G>T (p.Gly1087Val) c.494G>T (p.Gly165Val) | gnomAD v4 |
X | g.49216391C>G | CA412963870 | CACNA1F | c.3227G>C (p.Gly1076Ala) c.3065G>C (p.Gly1022Ala) c.3260G>C (p.Gly1087Ala) c.494G>C (p.Gly165Ala) | gnomAD v4 |
X | g.49216391C>T | CA412963871 | CACNA1F | c.3227G>A (p.Gly1076Asp) c.3065G>A (p.Gly1022Asp) c.3260G>A (p.Gly1087Asp) c.494G>A (p.Gly165Asp) | |
X | g.49216392C>A | CA412963872 | CACNA1F | c.3226G>T (p.Gly1076Cys) c.3064G>T (p.Gly1022Cys) c.3259G>T (p.Gly1087Cys) c.493G>T (p.Gly165Cys) | |
X | g.49216392C>G | CA412963873 | CACNA1F | c.3226G>C (p.Gly1076Arg) c.3064G>C (p.Gly1022Arg) c.3259G>C (p.Gly1087Arg) c.493G>C (p.Gly165Arg) | |
X | g.49216392C>T | CA412963874 | CACNA1F | c.3226G>A (p.Gly1076Ser) c.3064G>A (p.Gly1022Ser) c.3259G>A (p.Gly1087Ser) c.493G>A (p.Gly165Ser) | |
X | g.49216393T>A | CA412963876 | CACNA1F | c.3225A>T (p.Glu1075Asp) c.3063A>T (p.Glu1021Asp) c.3258A>T (p.Glu1086Asp) c.492A>T (p.Glu164Asp) | |
X | g.49216393T>C | CA516377273 | CACNA1F | c.3225A>G (p.Glu1075=) c.3063A>G (p.Glu1021=) c.3258A>G (p.Glu1086=) c.492A>G (p.Glu164=) | |
X | g.49216393T>G | CA412963875 | CACNA1F | c.3225A>C (p.Glu1075Asp) c.3063A>C (p.Glu1021Asp) c.3258A>C (p.Glu1086Asp) c.492A>C (p.Glu164Asp) | dbSNP |
X | g.49216393T= | CA2428539709 | CACNA1F | c.3225A= (p.Glu1075=) c.3063A= (p.Glu1021=) c.3258A= (p.Glu1086=) c.492A= (p.Glu164=) | |
X | g.49216394del | CA2573158897 | CACNA1F | c.3225del (p.Gly1076AlafsTer?) c.3063del (p.Gly1022AlafsTer?) c.3258del (p.Gly1087AlafsTer?) c.492del (p.Gly165AlafsTer?) | ClinVar dbSNP |
X | g.49216394T>A | CA412963877 | CACNA1F | c.3224A>T (p.Glu1075Val) c.3062A>T (p.Glu1021Val) c.3257A>T (p.Glu1086Val) c.491A>T (p.Glu164Val) | |
X | g.49216394T>C | CA412963878 | CACNA1F | c.3224A>G (p.Glu1075Gly) c.3062A>G (p.Glu1021Gly) c.3257A>G (p.Glu1086Gly) c.491A>G (p.Glu164Gly) | |
X | g.49216394T>G | CA412963879 | CACNA1F | c.3224A>C (p.Glu1075Ala) c.3062A>C (p.Glu1021Ala) c.3257A>C (p.Glu1086Ala) c.491A>C (p.Glu164Ala) | |
X | g.49216395C>A | CA412963880 | CACNA1F | c.3223G>T (p.Glu1075Ter) c.3061G>T (p.Glu1021Ter) c.3256G>T (p.Glu1086Ter) c.490G>T (p.Glu164Ter) | |
X | g.49216395C>G | CA412963881 | CACNA1F | c.3223G>C (p.Glu1075Gln) c.3061G>C (p.Glu1021Gln) c.3256G>C (p.Glu1086Gln) c.490G>C (p.Glu164Gln) | |
X | g.49216395C>T | CA412963882 | CACNA1F | c.3223G>A (p.Glu1075Lys) c.3061G>A (p.Glu1021Lys) c.3256G>A (p.Glu1086Lys) c.490G>A (p.Glu164Lys) | COSMIC |
X | g.49216396A>C | CA412963884 | CACNA1F | c.3222T>G (p.Phe1074Leu) c.3060T>G (p.Phe1020Leu) c.3255T>G (p.Phe1085Leu) c.489T>G (p.Phe163Leu) | |
X | g.49216396A>G | CA516377274 | CACNA1F | c.3222T>C (p.Phe1074=) c.3060T>C (p.Phe1020=) c.3255T>C (p.Phe1085=) c.489T>C (p.Phe163=) | |
X | g.49216396A>T | CA412963883 | CACNA1F | c.3222T>A (p.Phe1074Leu) c.3060T>A (p.Phe1020Leu) c.3255T>A (p.Phe1085Leu) c.489T>A (p.Phe163Leu) | |
X | g.49216397A>C | CA412963885 | CACNA1F | c.3221T>G (p.Phe1074Cys) c.3059T>G (p.Phe1020Cys) c.3254T>G (p.Phe1085Cys) c.488T>G (p.Phe163Cys) | |
X | g.49216397A>G | CA412963886 | CACNA1F | c.3221T>C (p.Phe1074Ser) c.3059T>C (p.Phe1020Ser) c.3254T>C (p.Phe1085Ser) c.488T>C (p.Phe163Ser) | |
X | g.49216397A>T | CA412963887 | CACNA1F | c.3221T>A (p.Phe1074Tyr) c.3059T>A (p.Phe1020Tyr) c.3254T>A (p.Phe1085Tyr) c.488T>A (p.Phe163Tyr) | |
X | g.49216398A>C | CA412963888 | CACNA1F | c.3220T>G (p.Phe1074Val) c.3058T>G (p.Phe1020Val) c.3253T>G (p.Phe1085Val) c.487T>G (p.Phe163Val) | |
X | g.49216398A>G | CA412963889 | CACNA1F | c.3220T>C (p.Phe1074Leu) c.3058T>C (p.Phe1020Leu) c.3253T>C (p.Phe1085Leu) c.487T>C (p.Phe163Leu) | |
X | g.49216398A>T | CA412963890 | CACNA1F | c.3220T>A (p.Phe1074Ile) c.3058T>A (p.Phe1020Ile) c.3253T>A (p.Phe1085Ile) c.487T>A (p.Phe163Ile) | |
X | g.49216399G>A | CA516377275 | CACNA1F | c.3219C>T (p.Thr1073=) c.3057C>T (p.Thr1019=) c.3252C>T (p.Thr1084=) c.486C>T (p.Thr162=) | |
X | g.49216399G>C | CA516377276 | CACNA1F | c.3219C>G (p.Thr1073=) c.3057C>G (p.Thr1019=) c.3252C>G (p.Thr1084=) c.486C>G (p.Thr162=) | gnomAD v4 |
X | g.49216399G>T | CA516377277 | CACNA1F | c.3219C>A (p.Thr1073=) c.3057C>A (p.Thr1019=) c.3252C>A (p.Thr1084=) c.486C>A (p.Thr162=) | |
X | g.49216400G>A | CA412963893 | CACNA1F | c.3218C>T (p.Thr1073Ile) c.3056C>T (p.Thr1019Ile) c.3251C>T (p.Thr1084Ile) c.485C>T (p.Thr162Ile) | |
X | g.49216400G>C | CA412963891 | CACNA1F | c.3218C>G (p.Thr1073Ser) c.3056C>G (p.Thr1019Ser) c.3251C>G (p.Thr1084Ser) c.485C>G (p.Thr162Ser) | |
X | g.49216400G>T | CA412963892 | CACNA1F | c.3218C>A (p.Thr1073Asn) c.3056C>A (p.Thr1019Asn) c.3251C>A (p.Thr1084Asn) c.485C>A (p.Thr162Asn) | gnomAD v4 |
X | g.49216401T>A | CA412963894 | CACNA1F | c.3217A>T (p.Thr1073Ser) c.3055A>T (p.Thr1019Ser) c.3250A>T (p.Thr1084Ser) c.484A>T (p.Thr162Ser) | |
X | g.49216401T>C | CA412963895 | CACNA1F | c.3217A>G (p.Thr1073Ala) c.3055A>G (p.Thr1019Ala) c.3250A>G (p.Thr1084Ala) c.484A>G (p.Thr162Ala) | |
X | g.49216401T>G | CA412963896 | CACNA1F | c.3217A>C (p.Thr1073Pro) c.3055A>C (p.Thr1019Pro) c.3250A>C (p.Thr1084Pro) c.484A>C (p.Thr162Pro) | |
X | g.49216402G>A | CA516377278 | CACNA1F | c.3216C>T (p.Ser1072=) c.3054C>T (p.Ser1018=) c.3249C>T (p.Ser1083=) c.483C>T (p.Ser161=) | |
X | g.49216402G>C | CA516377279 | CACNA1F | c.3216C>G (p.Ser1072=) c.3054C>G (p.Ser1018=) c.3249C>G (p.Ser1083=) c.483C>G (p.Ser161=) | |
X | g.49216402G>T | CA516377280 | CACNA1F | c.3216C>A (p.Ser1072=) c.3054C>A (p.Ser1018=) c.3249C>A (p.Ser1083=) c.483C>A (p.Ser161=) | |
X | g.49216403del | CA2579607587 | CACNA1F | c.3216del (p.Thr1073ProfsTer?) c.3054del (p.Thr1019ProfsTer?) c.3249del (p.Thr1084ProfsTer?) c.483del (p.Thr162ProfsTer?) | |
X | g.49216403G>A | CA412963897 | CACNA1F | c.3215C>T (p.Ser1072Phe) c.3053C>T (p.Ser1018Phe) c.3248C>T (p.Ser1083Phe) c.482C>T (p.Ser161Phe) | COSMIC |
X | g.49216403G>C | CA412963898 | CACNA1F | c.3215C>G (p.Ser1072Cys) c.3053C>G (p.Ser1018Cys) c.3248C>G (p.Ser1083Cys) c.482C>G (p.Ser161Cys) | |
X | g.49216403G>T | CA412963899 | CACNA1F | c.3215C>A (p.Ser1072Tyr) c.3053C>A (p.Ser1018Tyr) c.3248C>A (p.Ser1083Tyr) c.482C>A (p.Ser161Tyr) | |
X | g.49216404A>C | CA412963900 | CACNA1F | c.3214T>G (p.Ser1072Ala) c.3052T>G (p.Ser1018Ala) c.3247T>G (p.Ser1083Ala) c.481T>G (p.Ser161Ala) | |
X | g.49216404A>G | CA412963901 | CACNA1F | c.3214T>C (p.Ser1072Pro) c.3052T>C (p.Ser1018Pro) c.3247T>C (p.Ser1083Pro) c.481T>C (p.Ser161Pro) | |
X | g.49216404A>T | CA412963902 | CACNA1F | c.3214T>A (p.Ser1072Thr) c.3052T>A (p.Ser1018Thr) c.3247T>A (p.Ser1083Thr) c.481T>A (p.Ser161Thr) | |
X | g.49216405G>A | CA516377281 | CACNA1F | c.3213C>T (p.Val1071=) c.3051C>T (p.Val1017=) c.3246C>T (p.Val1082=) c.480C>T (p.Val160=) | |
X | g.49216405G>C | CA516377282 | CACNA1F | c.3213C>G (p.Val1071=) c.3051C>G (p.Val1017=) c.3246C>G (p.Val1082=) c.480C>G (p.Val160=) | |
X | g.49216405G= | CA2428539710 | CACNA1F | c.3213C= (p.Val1071=) c.3051C= (p.Val1017=) c.3246C= (p.Val1082=) c.480C= (p.Val160=) | |
X | g.49216405G>T | CA516377283 | CACNA1F | c.3213C>A (p.Val1071=) c.3051C>A (p.Val1017=) c.3246C>A (p.Val1082=) c.480C>A (p.Val160=) | dbSNP |
X | g.49216406A>C | CA412963903 | CACNA1F | c.3212T>G (p.Val1071Gly) c.3050T>G (p.Val1017Gly) c.3245T>G (p.Val1082Gly) c.479T>G (p.Val160Gly) | |
X | g.49216406A>G | CA412963904 | CACNA1F | c.3212T>C (p.Val1071Ala) c.3050T>C (p.Val1017Ala) c.3245T>C (p.Val1082Ala) c.479T>C (p.Val160Ala) | |
X | g.49216406A>T | CA412963905 | CACNA1F | c.3212T>A (p.Val1071Asp) c.3050T>A (p.Val1017Asp) c.3245T>A (p.Val1082Asp) c.479T>A (p.Val160Asp) | |
X | g.49216407C>A | CA412963906 | CACNA1F | c.3211G>T (p.Val1071Phe) c.3049G>T (p.Val1017Phe) c.3244G>T (p.Val1082Phe) c.478G>T (p.Val160Phe) | dbSNP |
X | g.49216407C= | CA2428539711 | CACNA1F | c.3211G= (p.Val1071=) c.3049G= (p.Val1017=) c.3244G= (p.Val1082=) c.478G= (p.Val160=) | |
X | g.49216407C>G | CA412963908 | CACNA1F | c.3211G>C (p.Val1071Leu) c.3049G>C (p.Val1017Leu) c.3244G>C (p.Val1082Leu) c.478G>C (p.Val160Leu) | gnomAD v4 |
X | g.49216407C>T | CA412963907 | CACNA1F | c.3211G>A (p.Val1071Ile) c.3049G>A (p.Val1017Ile) c.3244G>A (p.Val1082Ile) c.478G>A (p.Val160Ile) | |
X | g.49216408A>C | CA516377284 | CACNA1F | c.3210T>G (p.Thr1070=) c.3048T>G (p.Thr1016=) c.3243T>G (p.Thr1081=) c.477T>G (p.Thr159=) | gnomAD v4 |
X | g.49216408A>G | CA516377285 | CACNA1F | c.3210T>C (p.Thr1070=) c.3048T>C (p.Thr1016=) c.3243T>C (p.Thr1081=) c.477T>C (p.Thr159=) | |
X | g.49216408A>T | CA516377286 | CACNA1F | c.3210T>A (p.Thr1070=) c.3048T>A (p.Thr1016=) c.3243T>A (p.Thr1081=) c.477T>A (p.Thr159=) | |
X | g.49216409G>A | CA412963909 | CACNA1F | c.3209C>T (p.Thr1070Ile) c.3047C>T (p.Thr1016Ile) c.3242C>T (p.Thr1081Ile) c.476C>T (p.Thr159Ile) | |
X | g.49216409G>C | CA412963911 | CACNA1F | c.3209C>G (p.Thr1070Ser) c.3047C>G (p.Thr1016Ser) c.3242C>G (p.Thr1081Ser) c.476C>G (p.Thr159Ser) | |
X | g.49216409G>T | CA412963910 | CACNA1F | c.3209C>A (p.Thr1070Asn) c.3047C>A (p.Thr1016Asn) c.3242C>A (p.Thr1081Asn) c.476C>A (p.Thr159Asn) | |
X | g.49216410T>A | CA412963912 | CACNA1F | c.3208A>T (p.Thr1070Ser) c.3046A>T (p.Thr1016Ser) c.3241A>T (p.Thr1081Ser) c.475A>T (p.Thr159Ser) | |
X | g.49216410T>C | CA10410514 | CACNA1F | c.3208A>G (p.Thr1070Ala) c.3046A>G (p.Thr1016Ala) c.3241A>G (p.Thr1081Ala) c.475A>G (p.Thr159Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216410T>G | CA412963913 | CACNA1F | c.3208A>C (p.Thr1070Pro) c.3046A>C (p.Thr1016Pro) c.3241A>C (p.Thr1081Pro) c.475A>C (p.Thr159Pro) | |
X | g.49216410T= | CA2428539712 | CACNA1F | c.3208A= (p.Thr1070=) c.3046A= (p.Thr1016=) c.3241A= (p.Thr1081=) c.475A= (p.Thr159=) | |
X | g.49216411G>A | CA516377287 | CACNA1F | c.3207C>T (p.Phe1069=) c.3045C>T (p.Phe1015=) c.3240C>T (p.Phe1080=) c.474C>T (p.Phe158=) | |
X | g.49216411G>C | CA412963914 | CACNA1F | c.3207C>G (p.Phe1069Leu) c.3045C>G (p.Phe1015Leu) c.3240C>G (p.Phe1080Leu) c.474C>G (p.Phe158Leu) | |
X | g.49216411G>T | CA412963915 | CACNA1F | c.3207C>A (p.Phe1069Leu) c.3045C>A (p.Phe1015Leu) c.3240C>A (p.Phe1080Leu) c.474C>A (p.Phe158Leu) | |
X | g.49216412A>C | CA412963916 | CACNA1F | c.3206T>G (p.Phe1069Cys) c.3044T>G (p.Phe1015Cys) c.3239T>G (p.Phe1080Cys) c.473T>G (p.Phe158Cys) | |
X | g.49216412A>G | CA412963917 | CACNA1F | c.3206T>C (p.Phe1069Ser) c.3044T>C (p.Phe1015Ser) c.3239T>C (p.Phe1080Ser) c.473T>C (p.Phe158Ser) | |
X | g.49216412A>T | CA412963918 | CACNA1F | c.3206T>A (p.Phe1069Tyr) c.3044T>A (p.Phe1015Tyr) c.3239T>A (p.Phe1080Tyr) c.473T>A (p.Phe158Tyr) | |
X | g.49216413A>C | CA412963919 | CACNA1F | c.3205T>G (p.Phe1069Val) c.3043T>G (p.Phe1015Val) c.3238T>G (p.Phe1080Val) c.472T>G (p.Phe158Val) | |
X | g.49216413A>G | CA412963921 | CACNA1F | c.3205T>C (p.Phe1069Leu) c.3043T>C (p.Phe1015Leu) c.3238T>C (p.Phe1080Leu) c.472T>C (p.Phe158Leu) | |
X | g.49216413A>T | CA412963920 | CACNA1F | c.3205T>A (p.Phe1069Ile) c.3043T>A (p.Phe1015Ile) c.3238T>A (p.Phe1080Ile) c.472T>A (p.Phe158Ile) | |
X | g.49216414C>A | CA516377288 | CACNA1F | c.3204G>T (p.Leu1068=) c.3042G>T (p.Leu1014=) c.3237G>T (p.Leu1079=) c.471G>T (p.Leu157=) | |
X | g.49216414C= | CA2428539713 | CACNA1F | c.3204G= (p.Leu1068=) c.3042G= (p.Leu1014=) c.3237G= (p.Leu1079=) c.471G= (p.Leu157=) | |
X | g.49216414C>G | CA516377289 | CACNA1F | c.3204G>C (p.Leu1068=) c.3042G>C (p.Leu1014=) c.3237G>C (p.Leu1079=) c.471G>C (p.Leu157=) | |
X | g.49216414C>T | CA516377290 | CACNA1F | c.3204G>A (p.Leu1068=) c.3042G>A (p.Leu1014=) c.3237G>A (p.Leu1079=) c.471G>A (p.Leu157=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216415A>C | CA412963922 | CACNA1F | c.3203T>G (p.Leu1068Arg) c.3041T>G (p.Leu1014Arg) c.3236T>G (p.Leu1079Arg) c.470T>G (p.Leu157Arg) | |
X | g.49216415A>G | CA412963923 | CACNA1F | c.3203T>C (p.Leu1068Pro) c.3041T>C (p.Leu1014Pro) c.3236T>C (p.Leu1079Pro) c.470T>C (p.Leu157Pro) | |
X | g.49216415A>T | CA412963924 | CACNA1F | c.3203T>A (p.Leu1068Gln) c.3041T>A (p.Leu1014Gln) c.3236T>A (p.Leu1079Gln) c.470T>A (p.Leu157Gln) | |
X | g.49216416G>A | CA516377291 | CACNA1F | c.3202C>T (p.Leu1068=) c.3040C>T (p.Leu1014=) c.3235C>T (p.Leu1079=) c.469C>T (p.Leu157=) | |
X | g.49216416G>C | CA412963925 | CACNA1F | c.3202C>G (p.Leu1068Val) c.3040C>G (p.Leu1014Val) c.3235C>G (p.Leu1079Val) c.469C>G (p.Leu157Val) | |
X | g.49216416G>T | CA412963926 | CACNA1F | c.3202C>A (p.Leu1068Met) c.3040C>A (p.Leu1014Met) c.3235C>A (p.Leu1079Met) c.469C>A (p.Leu157Met) | |
X | g.49216417G>A | CA516377292 | CACNA1F | c.3201C>T (p.Ala1067=) c.3039C>T (p.Ala1013=) c.3234C>T (p.Ala1078=) c.468C>T (p.Ala156=) | dbSNP gnomAD v4 |
X | g.49216417G>C | CA516377294 | CACNA1F | c.3201C>G (p.Ala1067=) c.3039C>G (p.Ala1013=) c.3234C>G (p.Ala1078=) c.468C>G (p.Ala156=) | |
X | g.49216417G= | CA2428539714 | CACNA1F | c.3201C= (p.Ala1067=) c.3039C= (p.Ala1013=) c.3234C= (p.Ala1078=) c.468C= (p.Ala156=) | |
X | g.49216417G>T | CA516377293 | CACNA1F | c.3201C>A (p.Ala1067=) c.3039C>A (p.Ala1013=) c.3234C>A (p.Ala1078=) c.468C>A (p.Ala156=) | |
X | g.49216418G>A | CA412963927 | CACNA1F | c.3200C>T (p.Ala1067Val) c.3038C>T (p.Ala1013Val) c.3233C>T (p.Ala1078Val) c.467C>T (p.Ala156Val) | |
X | g.49216418G>C | CA10410515 | CACNA1F | c.3200C>G (p.Ala1067Gly) c.3038C>G (p.Ala1013Gly) c.3233C>G (p.Ala1078Gly) c.467C>G (p.Ala156Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.49216418G= | CA2428539715 | CACNA1F | c.3200C= (p.Ala1067=) c.3038C= (p.Ala1013=) c.3233C= (p.Ala1078=) c.467C= (p.Ala156=) | |
X | g.49216418G>T | CA412963928 | CACNA1F | c.3200C>A (p.Ala1067Asp) c.3038C>A (p.Ala1013Asp) c.3233C>A (p.Ala1078Asp) c.467C>A (p.Ala156Asp) |