UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201053442C= | CA1219575409 | CACNA1S | c.3795+17G= (n.3795+17G=) c.*2958+17G= (n.*2958+17G=) n.921+17G= c.*1313+17G= (n.*1313+17G=) c.3735+17G= (n.3735+17G=) c.3738+17G= (n.3738+17G=) | |
| 1 | g.201053442C>T | CA082821 | CACNA1S | c.3795+17G>A (n.3795+17G>A) c.*2958+17G>A (n.*2958+17G>A) n.921+17G>A c.*1313+17G>A (n.*1313+17G>A) c.3735+17G>A (n.3735+17G>A) c.3738+17G>A (n.3738+17G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201053443A= | CA1148288389 | CACNA1S | c.3795+16T= (n.3795+16T=) c.*2958+16T= (n.*2958+16T=) n.921+16T= c.*1313+16T= (n.*1313+16T=) c.3735+16T= (n.3735+16T=) c.3738+16T= (n.3738+16T=) | |
| 1 | g.201053443A>G | CA082819 | CACNA1S | c.3795+16T>C (n.3795+16T>C) c.*2958+16T>C (n.*2958+16T>C) n.921+16T>C c.*1313+16T>C (n.*1313+16T>C) c.3735+16T>C (n.3735+16T>C) c.3738+16T>C (n.3738+16T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201053444G>C | CA2740090299 | CACNA1S | c.3795+15C>G (n.3795+15C>G) c.*2958+15C>G (n.*2958+15C>G) n.921+15C>G c.*1313+15C>G (n.*1313+15C>G) c.3735+15C>G (n.3735+15C>G) c.3738+15C>G (n.3738+15C>G) | ClinVar |
| 1 | g.201053445G>A | CA1011172595 | CACNA1S | c.3795+14C>T (n.3795+14C>T) c.*2958+14C>T (n.*2958+14C>T) n.921+14C>T c.*1313+14C>T (n.*1313+14C>T) c.3735+14C>T (n.3735+14C>T) c.3738+14C>T (n.3738+14C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201053445G= | CA1219575410 | CACNA1S | c.3795+14C= (n.3795+14C=) c.*2958+14C= (n.*2958+14C=) n.921+14C= c.*1313+14C= (n.*1313+14C=) c.3735+14C= (n.3735+14C=) c.3738+14C= (n.3738+14C=) | |
| 1 | g.201053446G>A | CA1219575412 | CACNA1S | c.3795+13C>T (n.3795+13C>T) c.*2958+13C>T (n.*2958+13C>T) n.921+13C>T c.*1313+13C>T (n.*1313+13C>T) c.3735+13C>T (n.3735+13C>T) c.3738+13C>T (n.3738+13C>T) | dbSNP gnomAD v4 |
| 1 | g.201053446G= | CA1219575411 | CACNA1S | c.3795+13C= (n.3795+13C=) c.*2958+13C= (n.*2958+13C=) n.921+13C= c.*1313+13C= (n.*1313+13C=) c.3735+13C= (n.3735+13C=) c.3738+13C= (n.3738+13C=) | |
| 1 | g.201053448C>T | CA2573990269 | CACNA1S | c.3795+11G>A (n.3795+11G>A) c.*2958+11G>A (n.*2958+11G>A) n.921+11G>A c.*1313+11G>A (n.*1313+11G>A) c.3735+11G>A (n.3735+11G>A) c.3738+11G>A (n.3738+11G>A) | gnomAD v4 |
| 1 | g.201053449C= | CA1219575413 | CACNA1S | c.3795+10G= (n.3795+10G=) c.*2958+10G= (n.*2958+10G=) n.921+10G= c.*1313+10G= (n.*1313+10G=) c.3735+10G= (n.3735+10G=) c.3738+10G= (n.3738+10G=) | |
| 1 | g.201053449C>T | CA528536570 | CACNA1S | c.3795+10G>A (n.3795+10G>A) c.*2958+10G>A (n.*2958+10G>A) n.921+10G>A c.*1313+10G>A (n.*1313+10G>A) c.3735+10G>A (n.3735+10G>A) c.3738+10G>A (n.3738+10G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201053450C>G | CA2573131407 | CACNA1S | c.3795+9G>C (n.3795+9G>C) c.*2958+9G>C (n.*2958+9G>C) n.921+9G>C c.*1313+9G>C (n.*1313+9G>C) c.3735+9G>C (n.3735+9G>C) c.3738+9G>C (n.3738+9G>C) | ClinVar dbSNP |
| 1 | g.201053452G>C | CA1219575415 | CACNA1S | c.3795+7C>G (n.3795+7C>G) c.*2958+7C>G (n.*2958+7C>G) n.921+7C>G c.*1313+7C>G (n.*1313+7C>G) c.3735+7C>G (n.3735+7C>G) c.3738+7C>G (n.3738+7C>G) | dbSNP gnomAD v4 |
| 1 | g.201053452G= | CA1219575414 | CACNA1S | c.3795+7C= (n.3795+7C=) c.*2958+7C= (n.*2958+7C=) n.921+7C= c.*1313+7C= (n.*1313+7C=) c.3735+7C= (n.3735+7C=) c.3738+7C= (n.3738+7C=) | |
| 1 | g.201053453T>C | CA528536571 | CACNA1S | c.3795+6A>G (n.3795+6A>G) c.*2958+6A>G (n.*2958+6A>G) n.921+6A>G c.*1313+6A>G (n.*1313+6A>G) c.3735+6A>G (n.3735+6A>G) c.3738+6A>G (n.3738+6A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053453T= | CA1219575416 | CACNA1S | c.3795+6A= (n.3795+6A=) c.*2958+6A= (n.*2958+6A=) n.921+6A= c.*1313+6A= (n.*1313+6A=) c.3735+6A= (n.3735+6A=) c.3738+6A= (n.3738+6A=) | |
| 1 | g.201053454T>C | CA2649761851 | CACNA1S | c.3795+5A>G (n.3795+5A>G) c.*2958+5A>G (n.*2958+5A>G) n.921+5A>G c.*1313+5A>G (n.*1313+5A>G) c.3735+5A>G (n.3735+5A>G) c.3738+5A>G (n.3738+5A>G) | gnomAD v4 |
| 1 | g.201053454T>G | CA2649761852 | CACNA1S | c.3795+5A>C (n.3795+5A>C) c.*2958+5A>C (n.*2958+5A>C) n.921+5A>C c.*1313+5A>C (n.*1313+5A>C) c.3735+5A>C (n.3735+5A>C) c.3738+5A>C (n.3738+5A>C) | gnomAD v4 |
| 1 | g.201053455G>A | CA1219575418 | CACNA1S | c.3795+4C>T (n.3795+4C>T) c.*2958+4C>T (n.*2958+4C>T) n.921+4C>T c.*1313+4C>T (n.*1313+4C>T) c.3735+4C>T (n.3735+4C>T) c.3738+4C>T (n.3738+4C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201053455G= | CA1219575417 | CACNA1S | c.3795+4C= (n.3795+4C=) c.*2958+4C= (n.*2958+4C=) n.921+4C= c.*1313+4C= (n.*1313+4C=) c.3735+4C= (n.3735+4C=) c.3738+4C= (n.3738+4C=) | |
| 1 | g.201053455G>T | CA2649761853 | CACNA1S | c.3795+4C>A (n.3795+4C>A) c.*2958+4C>A (n.*2958+4C>A) n.921+4C>A c.*1313+4C>A (n.*1313+4C>A) c.3735+4C>A (n.3735+4C>A) c.3738+4C>A (n.3738+4C>A) | gnomAD v4 |
| 1 | g.201053456C= | CA1143241767 | CACNA1S | c.3795+3G= (n.3795+3G=) c.*2958+3G= (n.*2958+3G=) n.921+3G= c.*1313+3G= (n.*1313+3G=) c.3735+3G= (n.3735+3G=) c.3738+3G= (n.3738+3G=) | |
| 1 | g.201053456C>G | CA2573990283 | CACNA1S | c.3795+3G>C (n.3795+3G>C) c.*2958+3G>C (n.*2958+3G>C) n.921+3G>C c.*1313+3G>C (n.*1313+3G>C) c.3735+3G>C (n.3735+3G>C) c.3738+3G>C (n.3738+3G>C) | |
| 1 | g.201053456C>T | CA082843 | CACNA1S | c.3795+3G>A (n.3795+3G>A) c.*2958+3G>A (n.*2958+3G>A) n.921+3G>A c.*1313+3G>A (n.*1313+3G>A) c.3735+3G>A (n.3735+3G>A) c.3738+3G>A (n.3738+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053457A>C | CA344154001 | CACNA1S | c.3795+2T>G (n.3795+2T>G) c.*2958+2T>G (n.*2958+2T>G) n.921+2T>G c.*1313+2T>G (n.*1313+2T>G) c.3735+2T>G (n.3735+2T>G) c.3738+2T>G (n.3738+2T>G) | |
| 1 | g.201053457A>G | CA344154000 | CACNA1S | c.3795+2T>C (n.3795+2T>C) c.*2958+2T>C (n.*2958+2T>C) n.921+2T>C c.*1313+2T>C (n.*1313+2T>C) c.3735+2T>C (n.3735+2T>C) c.3738+2T>C (n.3738+2T>C) | |
| 1 | g.201053457A>T | CA344154002 | CACNA1S | c.3795+2T>A (n.3795+2T>A) c.*2958+2T>A (n.*2958+2T>A) n.921+2T>A c.*1313+2T>A (n.*1313+2T>A) c.3735+2T>A (n.3735+2T>A) c.3738+2T>A (n.3738+2T>A) | dbSNP |
| 1 | g.201053458C>A | CA344154004 | CACNA1S | c.3795+1G>T (n.3795+1G>T) c.*2958+1G>T (n.*2958+1G>T) n.921+1G>T c.*1313+1G>T (n.*1313+1G>T) c.3735+1G>T (n.3735+1G>T) c.3738+1G>T (n.3738+1G>T) | |
| 1 | g.201053458C>G | CA344154009 | CACNA1S | c.3795+1G>C (n.3795+1G>C) c.*2958+1G>C (n.*2958+1G>C) n.921+1G>C c.*1313+1G>C (n.*1313+1G>C) c.3735+1G>C (n.3735+1G>C) c.3738+1G>C (n.3738+1G>C) | |
| 1 | g.201053458C>T | CA344154035 | CACNA1S | c.3795+1G>A (n.3795+1G>A) c.*2958+1G>A (n.*2958+1G>A) n.921+1G>A c.*1313+1G>A (n.*1313+1G>A) c.3735+1G>A (n.3735+1G>A) c.3738+1G>A (n.3738+1G>A) | |
| 1 | g.201053459C>A | CA082845 | CACNA1S | c.3795G>T (p.Gln1265His) c.*2958G>T (n.*2958G>T) n.921G>T c.*1313G>T (n.*1313G>T) c.3735G>T (p.Gln1245His) c.3738G>T (p.Gln1246His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053459C= | CA1143495849 | CACNA1S | c.3795G= (p.Gln1265=) c.*2958G= (n.*2958G=) n.921G= c.*1313G= (n.*1313G=) c.3735G= (p.Gln1245=) c.3738G= (p.Gln1246=) | |
| 1 | g.201053459C>G | CA344154042 | CACNA1S | c.3795G>C (p.Gln1265His) c.*2958G>C (n.*2958G>C) n.921G>C c.*1313G>C (n.*1313G>C) c.3735G>C (p.Gln1245His) c.3738G>C (p.Gln1246His) | |
| 1 | g.201053459C>T | CA36002719 | CACNA1S | c.3795G>A (p.Gln1265=) c.*2958G>A (n.*2958G>A) n.921G>A c.*1313G>A (n.*1313G>A) c.3735G>A (p.Gln1245=) c.3738G>A (p.Gln1246=) | dbSNP gnomAD v4 |
| 1 | g.201053460T>A | CA344154051 | CACNA1S | c.3794A>T (p.Gln1265Leu) c.*2957A>T (n.*2957A>T) n.920A>T c.*1312A>T (n.*1312A>T) c.3734A>T (p.Gln1245Leu) c.3737A>T (p.Gln1246Leu) | |
| 1 | g.201053460T>C | CA344154054 | CACNA1S | c.3794A>G (p.Gln1265Arg) c.*2957A>G (n.*2957A>G) n.920A>G c.*1312A>G (n.*1312A>G) c.3734A>G (p.Gln1245Arg) c.3737A>G (p.Gln1246Arg) | ClinVar dbSNP |
| 1 | g.201053460T>G | CA344154057 | CACNA1S | c.3794A>C (p.Gln1265Pro) c.*2957A>C (n.*2957A>C) n.920A>C c.*1312A>C (n.*1312A>C) c.3734A>C (p.Gln1245Pro) c.3737A>C (p.Gln1246Pro) | |
| 1 | g.201053460T= | CA1219575419 | CACNA1S | c.3794A= (p.Gln1265=) c.*2957A= (n.*2957A=) n.920A= c.*1312A= (n.*1312A=) c.3734A= (p.Gln1245=) c.3737A= (p.Gln1246=) | |
| 1 | g.201053461G>A | CA344154062 | CACNA1S | c.3793C>T (p.Gln1265Ter) c.*2956C>T (n.*2956C>T) n.919C>T c.*1311C>T (n.*1311C>T) c.3733C>T (p.Gln1245Ter) c.3736C>T (p.Gln1246Ter) | |
| 1 | g.201053461G>C | CA344154064 | CACNA1S | c.3793C>G (p.Gln1265Glu) c.*2956C>G (n.*2956C>G) n.919C>G c.*1311C>G (n.*1311C>G) c.3733C>G (p.Gln1245Glu) c.3736C>G (p.Gln1246Glu) | |
| 1 | g.201053461G>T | CA344154067 | CACNA1S | c.3793C>A (p.Gln1265Lys) c.*2956C>A (n.*2956C>A) n.919C>A c.*1311C>A (n.*1311C>A) c.3733C>A (p.Gln1245Lys) c.3736C>A (p.Gln1246Lys) | |
| 1 | g.201053462G>A | CA422719548 | CACNA1S | c.3792C>T (p.Phe1264=) c.*2955C>T (n.*2955C>T) n.918C>T c.*1310C>T (n.*1310C>T) c.3732C>T (p.Phe1244=) c.3735C>T (p.Phe1245=) | |
| 1 | g.201053462G>C | CA344154074 | CACNA1S | c.3792C>G (p.Phe1264Leu) c.*2955C>G (n.*2955C>G) n.918C>G c.*1310C>G (n.*1310C>G) c.3732C>G (p.Phe1244Leu) c.3735C>G (p.Phe1245Leu) | |
| 1 | g.201053462G>T | CA344154078 | CACNA1S | c.3792C>A (p.Phe1264Leu) c.*2955C>A (n.*2955C>A) n.918C>A c.*1310C>A (n.*1310C>A) c.3732C>A (p.Phe1244Leu) c.3735C>A (p.Phe1245Leu) | |
| 1 | g.201053463A>C | CA344154090 | CACNA1S | c.3791T>G (p.Phe1264Cys) c.*2954T>G (n.*2954T>G) n.917T>G c.*1309T>G (n.*1309T>G) c.3731T>G (p.Phe1244Cys) c.3734T>G (p.Phe1245Cys) | |
| 1 | g.201053463A>G | CA344154081 | CACNA1S | c.3791T>C (p.Phe1264Ser) c.*2954T>C (n.*2954T>C) n.917T>C c.*1309T>C (n.*1309T>C) c.3731T>C (p.Phe1244Ser) c.3734T>C (p.Phe1245Ser) | |
| 1 | g.201053463A>T | CA344154085 | CACNA1S | c.3791T>A (p.Phe1264Tyr) c.*2954T>A (n.*2954T>A) n.917T>A c.*1309T>A (n.*1309T>A) c.3731T>A (p.Phe1244Tyr) c.3734T>A (p.Phe1245Tyr) | |
| 1 | g.201053464A>C | CA344154093 | CACNA1S | c.3790T>G (p.Phe1264Val) c.*2953T>G (n.*2953T>G) n.916T>G c.*1308T>G (n.*1308T>G) c.3730T>G (p.Phe1244Val) c.3733T>G (p.Phe1245Val) | |
| 1 | g.201053464A>G | CA344154100 | CACNA1S | c.3790T>C (p.Phe1264Leu) c.*2953T>C (n.*2953T>C) n.916T>C c.*1308T>C (n.*1308T>C) c.3730T>C (p.Phe1244Leu) c.3733T>C (p.Phe1245Leu) | |
| 1 | g.201053464A>T | CA344154110 | CACNA1S | c.3790T>A (p.Phe1264Ile) c.*2953T>A (n.*2953T>A) n.916T>A c.*1308T>A (n.*1308T>A) c.3730T>A (p.Phe1244Ile) c.3733T>A (p.Phe1245Ile) | COSMIC |
| 1 | g.201053465G>A | CA422719549 | CACNA1S | c.3789C>T (p.Ser1263=) c.*2952C>T (n.*2952C>T) n.915C>T c.*1307C>T (n.*1307C>T) c.3729C>T (p.Ser1243=) c.3732C>T (p.Ser1244=) | |
| 1 | g.201053465G>C | CA422719551 | CACNA1S | c.3789C>G (p.Ser1263=) c.*2952C>G (n.*2952C>G) n.915C>G c.*1307C>G (n.*1307C>G) c.3729C>G (p.Ser1243=) c.3732C>G (p.Ser1244=) | |
| 1 | g.201053465G>T | CA422719550 | CACNA1S | c.3789C>A (p.Ser1263=) c.*2952C>A (n.*2952C>A) n.915C>A c.*1307C>A (n.*1307C>A) c.3729C>A (p.Ser1243=) c.3732C>A (p.Ser1244=) | |
| 1 | g.201053466G>A | CA344154124 | CACNA1S | c.3788C>T (p.Ser1263Phe) c.*2951C>T (n.*2951C>T) n.914C>T c.*1306C>T (n.*1306C>T) c.3728C>T (p.Ser1243Phe) c.3731C>T (p.Ser1244Phe) | |
| 1 | g.201053466G>C | CA344154138 | CACNA1S | c.3788C>G (p.Ser1263Cys) c.*2951C>G (n.*2951C>G) n.914C>G c.*1306C>G (n.*1306C>G) c.3728C>G (p.Ser1243Cys) c.3731C>G (p.Ser1244Cys) | |
| 1 | g.201053466G>T | CA344154143 | CACNA1S | c.3788C>A (p.Ser1263Tyr) c.*2951C>A (n.*2951C>A) n.914C>A c.*1306C>A (n.*1306C>A) c.3728C>A (p.Ser1243Tyr) c.3731C>A (p.Ser1244Tyr) | |
| 1 | g.201053467A>C | CA344154146 | CACNA1S | c.3787T>G (p.Ser1263Ala) c.*2950T>G (n.*2950T>G) n.913T>G c.*1305T>G (n.*1305T>G) c.3727T>G (p.Ser1243Ala) c.3730T>G (p.Ser1244Ala) | |
| 1 | g.201053467A>G | CA344154153 | CACNA1S | c.3787T>C (p.Ser1263Pro) c.*2950T>C (n.*2950T>C) n.913T>C c.*1305T>C (n.*1305T>C) c.3727T>C (p.Ser1243Pro) c.3730T>C (p.Ser1244Pro) | |
| 1 | g.201053467A>T | CA344154161 | CACNA1S | c.3787T>A (p.Ser1263Thr) c.*2950T>A (n.*2950T>A) n.913T>A c.*1305T>A (n.*1305T>A) c.3727T>A (p.Ser1243Thr) c.3730T>A (p.Ser1244Thr) | |
| 1 | g.201053468C>A | CA344154171 | CACNA1S | c.3786G>T (p.Lys1262Asn) c.*2949G>T (n.*2949G>T) n.912G>T c.*1304G>T (n.*1304G>T) c.3726G>T (p.Lys1242Asn) c.3729G>T (p.Lys1243Asn) | |
| 1 | g.201053468C= | CA1219575420 | CACNA1S | c.3786G= (p.Lys1262=) c.*2949G= (n.*2949G=) n.912G= c.*1304G= (n.*1304G=) c.3726G= (p.Lys1242=) c.3729G= (p.Lys1243=) | |
| 1 | g.201053468C>G | CA344154180 | CACNA1S | c.3786G>C (p.Lys1262Asn) c.*2949G>C (n.*2949G>C) n.912G>C c.*1304G>C (n.*1304G>C) c.3726G>C (p.Lys1242Asn) c.3729G>C (p.Lys1243Asn) | |
| 1 | g.201053468C>T | CA422719552 | CACNA1S | c.3786G>A (p.Lys1262=) c.*2949G>A (n.*2949G>A) n.912G>A c.*1304G>A (n.*1304G>A) c.3726G>A (p.Lys1242=) c.3729G>A (p.Lys1243=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201053469T>A | CA344154187 | CACNA1S | c.3785A>T (p.Lys1262Met) c.*2948A>T (n.*2948A>T) n.911A>T c.*1303A>T (n.*1303A>T) c.3725A>T (p.Lys1242Met) c.3728A>T (p.Lys1243Met) | |
| 1 | g.201053469T>C | CA344154186 | CACNA1S | c.3785A>G (p.Lys1262Arg) c.*2948A>G (n.*2948A>G) n.911A>G c.*1303A>G (n.*1303A>G) c.3725A>G (p.Lys1242Arg) c.3728A>G (p.Lys1243Arg) | |
| 1 | g.201053469T>G | CA344154185 | CACNA1S | c.3785A>C (p.Lys1262Thr) c.*2948A>C (n.*2948A>C) n.911A>C c.*1303A>C (n.*1303A>C) c.3725A>C (p.Lys1242Thr) c.3728A>C (p.Lys1243Thr) | |
| 1 | g.201053470T>A | CA344154189 | CACNA1S | c.3784A>T (p.Lys1262Ter) c.*2947A>T (n.*2947A>T) n.910A>T c.*1302A>T (n.*1302A>T) c.3724A>T (p.Lys1242Ter) c.3727A>T (p.Lys1243Ter) | dbSNP |
| 1 | g.201053470T>C | CA344154191 | CACNA1S | c.3784A>G (p.Lys1262Glu) c.*2947A>G (n.*2947A>G) n.910A>G c.*1302A>G (n.*1302A>G) c.3724A>G (p.Lys1242Glu) c.3727A>G (p.Lys1243Glu) | |
| 1 | g.201053470T>G | CA344154194 | CACNA1S | c.3784A>C (p.Lys1262Gln) c.*2947A>C (n.*2947A>C) n.910A>C c.*1302A>C (n.*1302A>C) c.3724A>C (p.Lys1242Gln) c.3727A>C (p.Lys1243Gln) | |
| 1 | g.201053470T= | CA1219575421 | CACNA1S | c.3784A= (p.Lys1262=) c.*2947A= (n.*2947A=) n.910A= c.*1302A= (n.*1302A=) c.3724A= (p.Lys1242=) c.3727A= (p.Lys1243=) | |
| 1 | g.201053473_201053475del | CA2649761854 | CACNA1S | c.3782_3784del (p.Ile1261del) c.*2945_*2947del (n.*2945_*2947del) n.908_910del c.*1300_*1302del (n.*1300_*1302del) c.3722_3724del (p.Ile1241del) c.3725_3727del (p.Ile1242del) | gnomAD v4 |
| 1 | g.201053471G>A | CA422719553 | CACNA1S | c.3783C>T (p.Ile1261=) c.*2946C>T (n.*2946C>T) n.909C>T c.*1301C>T (n.*1301C>T) c.3723C>T (p.Ile1241=) c.3726C>T (p.Ile1242=) | |
| 1 | g.201053471G>C | CA344154199 | CACNA1S | c.3783C>G (p.Ile1261Met) c.*2946C>G (n.*2946C>G) n.909C>G c.*1301C>G (n.*1301C>G) c.3723C>G (p.Ile1241Met) c.3726C>G (p.Ile1242Met) | |
| 1 | g.201053471G>T | CA422719554 | CACNA1S | c.3783C>A (p.Ile1261=) c.*2946C>A (n.*2946C>A) n.909C>A c.*1301C>A (n.*1301C>A) c.3723C>A (p.Ile1241=) c.3726C>A (p.Ile1242=) | |
| 1 | g.201053472A>C | CA344154203 | CACNA1S | c.3782T>G (p.Ile1261Ser) c.*2945T>G (n.*2945T>G) n.908T>G c.*1300T>G (n.*1300T>G) c.3722T>G (p.Ile1241Ser) c.3725T>G (p.Ile1242Ser) | |
| 1 | g.201053472A>G | CA344154205 | CACNA1S | c.3782T>C (p.Ile1261Thr) c.*2945T>C (n.*2945T>C) n.908T>C c.*1300T>C (n.*1300T>C) c.3722T>C (p.Ile1241Thr) c.3725T>C (p.Ile1242Thr) | gnomAD v4 |
| 1 | g.201053472A>T | CA344154208 | CACNA1S | c.3782T>A (p.Ile1261Asn) c.*2945T>A (n.*2945T>A) n.908T>A c.*1300T>A (n.*1300T>A) c.3722T>A (p.Ile1241Asn) c.3725T>A (p.Ile1242Asn) | |
| 1 | g.201053473T>A | CA344154216 | CACNA1S | c.3781A>T (p.Ile1261Phe) c.*2944A>T (n.*2944A>T) n.907A>T c.*1299A>T (n.*1299A>T) c.3721A>T (p.Ile1241Phe) c.3724A>T (p.Ile1242Phe) | |
| 1 | g.201053473T>C | CA082817 | CACNA1S | c.3781A>G (p.Ile1261Val) c.*2944A>G (n.*2944A>G) n.907A>G c.*1299A>G (n.*1299A>G) c.3721A>G (p.Ile1241Val) c.3724A>G (p.Ile1242Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201053473T>G | CA344154220 | CACNA1S | c.3781A>C (p.Ile1261Leu) c.*2944A>C (n.*2944A>C) n.907A>C c.*1299A>C (n.*1299A>C) c.3721A>C (p.Ile1241Leu) c.3724A>C (p.Ile1242Leu) | |
| 1 | g.201053473T= | CA1149109153 | CACNA1S | c.3781A= (p.Ile1261=) c.*2944A= (n.*2944A=) n.907A= c.*1299A= (n.*1299A=) c.3721A= (p.Ile1241=) c.3724A= (p.Ile1242=) | |
| 1 | g.201053474G>A | CA422719555 | CACNA1S | c.3780C>T (p.Phe1260=) c.*2943C>T (n.*2943C>T) n.906C>T c.*1298C>T (n.*1298C>T) c.3720C>T (p.Phe1240=) c.3723C>T (p.Phe1241=) | |
| 1 | g.201053474G>C | CA344154221 | CACNA1S | c.3780C>G (p.Phe1260Leu) c.*2943C>G (n.*2943C>G) n.906C>G c.*1298C>G (n.*1298C>G) c.3720C>G (p.Phe1240Leu) c.3723C>G (p.Phe1241Leu) | |
| 1 | g.201053474G>T | CA344154222 | CACNA1S | c.3780C>A (p.Phe1260Leu) c.*2943C>A (n.*2943C>A) n.906C>A c.*1298C>A (n.*1298C>A) c.3720C>A (p.Phe1240Leu) c.3723C>A (p.Phe1241Leu) | |
| 1 | g.201053475A>C | CA344154251 | CACNA1S | c.3779T>G (p.Phe1260Cys) c.*2942T>G (n.*2942T>G) n.905T>G c.*1297T>G (n.*1297T>G) c.3719T>G (p.Phe1240Cys) c.3722T>G (p.Phe1241Cys) | |
| 1 | g.201053475A>G | CA344154253 | CACNA1S | c.3779T>C (p.Phe1260Ser) c.*2942T>C (n.*2942T>C) n.905T>C c.*1297T>C (n.*1297T>C) c.3719T>C (p.Phe1240Ser) c.3722T>C (p.Phe1241Ser) | gnomAD v4 |
| 1 | g.201053475A>T | CA344154224 | CACNA1S | c.3779T>A (p.Phe1260Tyr) c.*2942T>A (n.*2942T>A) n.905T>A c.*1297T>A (n.*1297T>A) c.3719T>A (p.Phe1240Tyr) c.3722T>A (p.Phe1241Tyr) | |
| 1 | g.201053476A>C | CA344154255 | CACNA1S | c.3778T>G (p.Phe1260Val) c.*2941T>G (n.*2941T>G) n.904T>G c.*1296T>G (n.*1296T>G) c.3718T>G (p.Phe1240Val) c.3721T>G (p.Phe1241Val) | |
| 1 | g.201053476A>G | CA344154257 | CACNA1S | c.3778T>C (p.Phe1260Leu) c.*2941T>C (n.*2941T>C) n.904T>C c.*1296T>C (n.*1296T>C) c.3718T>C (p.Phe1240Leu) c.3721T>C (p.Phe1241Leu) | |
| 1 | g.201053476A>T | CA344154268 | CACNA1S | c.3778T>A (p.Phe1260Ile) c.*2941T>A (n.*2941T>A) n.904T>A c.*1296T>A (n.*1296T>A) c.3718T>A (p.Phe1240Ile) c.3721T>A (p.Phe1241Ile) | |
| 1 | g.201053477C>A | CA422719556 | CACNA1S | c.3777G>T (p.Thr1259=) c.*2940G>T (n.*2940G>T) n.903G>T c.*1295G>T (n.*1295G>T) c.3717G>T (p.Thr1239=) c.3720G>T (p.Thr1240=) | gnomAD v4 |
| 1 | g.201053477C= | CA1142191719 | CACNA1S | c.3777G= (p.Thr1259=) c.*2940G= (n.*2940G=) n.903G= c.*1295G= (n.*1295G=) c.3717G= (p.Thr1239=) c.3720G= (p.Thr1240=) | |
| 1 | g.201053477C>G | CA422719557 | CACNA1S | c.3777G>C (p.Thr1259=) c.*2940G>C (n.*2940G>C) n.903G>C c.*1295G>C (n.*1295G>C) c.3717G>C (p.Thr1239=) c.3720G>C (p.Thr1240=) | |
| 1 | g.201053477C>T | CA082815 | CACNA1S | c.3777G>A (p.Thr1259=) c.*2940G>A (n.*2940G>A) n.903G>A c.*1295G>A (n.*1295G>A) c.3717G>A (p.Thr1239=) c.3720G>A (p.Thr1240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053478G>A | CA344154285 | CACNA1S | c.3776C>T (p.Thr1259Met) c.*2939C>T (n.*2939C>T) n.902C>T c.*1294C>T (n.*1294C>T) c.3716C>T (p.Thr1239Met) c.3719C>T (p.Thr1240Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053478G>C | CA344154270 | CACNA1S | c.3776C>G (p.Thr1259Arg) c.*2939C>G (n.*2939C>G) n.902C>G c.*1294C>G (n.*1294C>G) c.3716C>G (p.Thr1239Arg) c.3719C>G (p.Thr1240Arg) | |
| 1 | g.201053478G= | CA1144119549 | CACNA1S | c.3776C= (p.Thr1259=) c.*2939C= (n.*2939C=) n.902C= c.*1294C= (n.*1294C=) c.3716C= (p.Thr1239=) c.3719C= (p.Thr1240=) | |
| 1 | g.201053478G>T | CA082812 | CACNA1S | c.3776C>A (p.Thr1259Lys) c.*2939C>A (n.*2939C>A) n.902C>A c.*1294C>A (n.*1294C>A) c.3716C>A (p.Thr1239Lys) c.3719C>A (p.Thr1240Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053479T>A | CA344154288 | CACNA1S | c.3775A>T (p.Thr1259Ser) c.*2938A>T (n.*2938A>T) n.901A>T c.*1293A>T (n.*1293A>T) c.3715A>T (p.Thr1239Ser) c.3718A>T (p.Thr1240Ser) | |
| 1 | g.201053479T>C | CA344154289 | CACNA1S | c.3775A>G (p.Thr1259Ala) c.*2938A>G (n.*2938A>G) n.901A>G c.*1293A>G (n.*1293A>G) c.3715A>G (p.Thr1239Ala) c.3718A>G (p.Thr1240Ala) | gnomAD v4 |
| 1 | g.201053479T>G | CA344154296 | CACNA1S | c.3775A>C (p.Thr1259Pro) c.*2938A>C (n.*2938A>C) n.901A>C c.*1293A>C (n.*1293A>C) c.3715A>C (p.Thr1239Pro) c.3718A>C (p.Thr1240Pro) | |
| 1 | g.201053480C>A | CA344154297 | CACNA1S | c.3774G>T (p.Trp1258Cys) c.*2937G>T (n.*2937G>T) n.900G>T c.*1292G>T (n.*1292G>T) c.3714G>T (p.Trp1238Cys) c.3717G>T (p.Trp1239Cys) | |
| 1 | g.201053480C= | CA1219575422 | CACNA1S | c.3774G= (p.Trp1258=) c.*2937G= (n.*2937G=) n.900G= c.*1292G= (n.*1292G=) c.3714G= (p.Trp1238=) c.3717G= (p.Trp1239=) | |
| 1 | g.201053480C>G | CA344154298 | CACNA1S | c.3774G>C (p.Trp1258Cys) c.*2937G>C (n.*2937G>C) n.900G>C c.*1292G>C (n.*1292G>C) c.3714G>C (p.Trp1238Cys) c.3717G>C (p.Trp1239Cys) | ClinVar dbSNP |
| 1 | g.201053480C>T | CA344154303 | CACNA1S | c.3774G>A (p.Trp1258Ter) c.*2937G>A (n.*2937G>A) n.900G>A c.*1292G>A (n.*1292G>A) c.3714G>A (p.Trp1238Ter) c.3717G>A (p.Trp1239Ter) | |
| 1 | g.201053481C>A | CA344154306 | CACNA1S | c.3773G>T (p.Trp1258Leu) c.*2936G>T (n.*2936G>T) n.899G>T c.*1291G>T (n.*1291G>T) c.3713G>T (p.Trp1238Leu) c.3716G>T (p.Trp1239Leu) | |
| 1 | g.201053481C= | CA1219575423 | CACNA1S | c.3773G= (p.Trp1258=) c.*2936G= (n.*2936G=) n.899G= c.*1291G= (n.*1291G=) c.3713G= (p.Trp1238=) c.3716G= (p.Trp1239=) | |
| 1 | g.201053481C>G | CA344154318 | CACNA1S | c.3773G>C (p.Trp1258Ser) c.*2936G>C (n.*2936G>C) n.899G>C c.*1291G>C (n.*1291G>C) c.3713G>C (p.Trp1238Ser) c.3716G>C (p.Trp1239Ser) | |
| 1 | g.201053481C>T | CA344154314 | CACNA1S | c.3773G>A (p.Trp1258Ter) c.*2936G>A (n.*2936G>A) n.899G>A c.*1291G>A (n.*1291G>A) c.3713G>A (p.Trp1238Ter) c.3716G>A (p.Trp1239Ter) | ClinVar dbSNP |
| 1 | g.201053482A= | CA1219575424 | CACNA1S | c.3772T= (p.Trp1258=) c.*2935T= (n.*2935T=) n.898T= c.*1290T= (n.*1290T=) c.3712T= (p.Trp1238=) c.3715T= (p.Trp1239=) | |
| 1 | g.201053482A>C | CA344154321 | CACNA1S | c.3772T>G (p.Trp1258Gly) c.*2935T>G (n.*2935T>G) n.898T>G c.*1290T>G (n.*1290T>G) c.3712T>G (p.Trp1238Gly) c.3715T>G (p.Trp1239Gly) | |
| 1 | g.201053482A>G | CA344154327 | CACNA1S | c.3772T>C (p.Trp1258Arg) c.*2935T>C (n.*2935T>C) n.898T>C c.*1290T>C (n.*1290T>C) c.3712T>C (p.Trp1238Arg) c.3715T>C (p.Trp1239Arg) | ClinVar dbSNP |
| 1 | g.201053482A>T | CA344154329 | CACNA1S | c.3772T>A (p.Trp1258Arg) c.*2935T>A (n.*2935T>A) n.898T>A c.*1290T>A (n.*1290T>A) c.3712T>A (p.Trp1238Arg) c.3715T>A (p.Trp1239Arg) | |
| 1 | g.201053483C>A | CA422719559 | CACNA1S | c.3771G>T (p.Leu1257=) c.*2934G>T (n.*2934G>T) n.897G>T c.*1289G>T (n.*1289G>T) c.3711G>T (p.Leu1237=) c.3714G>T (p.Leu1238=) | |
| 1 | g.201053483C>G | CA422719558 | CACNA1S | c.3771G>C (p.Leu1257=) c.*2934G>C (n.*2934G>C) n.897G>C c.*1289G>C (n.*1289G>C) c.3711G>C (p.Leu1237=) c.3714G>C (p.Leu1238=) | |
| 1 | g.201053483C>T | CA422719560 | CACNA1S | c.3771G>A (p.Leu1257=) c.*2934G>A (n.*2934G>A) n.897G>A c.*1289G>A (n.*1289G>A) c.3711G>A (p.Leu1237=) c.3714G>A (p.Leu1238=) | ClinVar dbSNP |
| 1 | g.201053484A>C | CA344154337 | CACNA1S | c.3770T>G (p.Leu1257Arg) c.*2933T>G (n.*2933T>G) n.896T>G c.*1288T>G (n.*1288T>G) c.3710T>G (p.Leu1237Arg) c.3713T>G (p.Leu1238Arg) | |
| 1 | g.201053484A>G | CA344154341 | CACNA1S | c.3770T>C (p.Leu1257Pro) c.*2933T>C (n.*2933T>C) n.896T>C c.*1288T>C (n.*1288T>C) c.3710T>C (p.Leu1237Pro) c.3713T>C (p.Leu1238Pro) | gnomAD v4 |
| 1 | g.201053484A>T | CA344154344 | CACNA1S | c.3770T>A (p.Leu1257Gln) c.*2933T>A (n.*2933T>A) n.896T>A c.*1288T>A (n.*1288T>A) c.3710T>A (p.Leu1237Gln) c.3713T>A (p.Leu1238Gln) | |
| 1 | g.201053485G>A | CA422719561 | CACNA1S | c.3769C>T (p.Leu1257=) c.*2932C>T (n.*2932C>T) n.895C>T c.*1287C>T (n.*1287C>T) c.3709C>T (p.Leu1237=) c.3712C>T (p.Leu1238=) | COSMIC |
| 1 | g.201053485G>C | CA344154347 | CACNA1S | c.3769C>G (p.Leu1257Val) c.*2932C>G (n.*2932C>G) n.895C>G c.*1287C>G (n.*1287C>G) c.3709C>G (p.Leu1237Val) c.3712C>G (p.Leu1238Val) | |
| 1 | g.201053485G>T | CA344154348 | CACNA1S | c.3769C>A (p.Leu1257Met) c.*2932C>A (n.*2932C>A) n.895C>A c.*1287C>A (n.*1287C>A) c.3709C>A (p.Leu1237Met) c.3712C>A (p.Leu1238Met) | gnomAD v4 |
| 1 | g.201053486G>A | CA422719563 | CACNA1S | c.3768C>T (p.Leu1256=) c.*2931C>T (n.*2931C>T) n.894C>T c.*1286C>T (n.*1286C>T) c.3708C>T (p.Leu1236=) c.3711C>T (p.Leu1237=) | gnomAD v4 |
| 1 | g.201053486G>C | CA422719562 | CACNA1S | c.3768C>G (p.Leu1256=) c.*2931C>G (n.*2931C>G) n.894C>G c.*1286C>G (n.*1286C>G) c.3708C>G (p.Leu1236=) c.3711C>G (p.Leu1237=) | |
| 1 | g.201053486G>T | CA422719564 | CACNA1S | c.3768C>A (p.Leu1256=) c.*2931C>A (n.*2931C>A) n.894C>A c.*1286C>A (n.*1286C>A) c.3708C>A (p.Leu1236=) c.3711C>A (p.Leu1237=) | |
| 1 | g.201053487A>C | CA344154350 | CACNA1S | c.3767T>G (p.Leu1256Arg) c.*2930T>G (n.*2930T>G) n.893T>G c.*1285T>G (n.*1285T>G) c.3707T>G (p.Leu1236Arg) c.3710T>G (p.Leu1237Arg) | |
| 1 | g.201053487A>G | CA344154352 | CACNA1S | c.3767T>C (p.Leu1256Pro) c.*2930T>C (n.*2930T>C) n.893T>C c.*1285T>C (n.*1285T>C) c.3707T>C (p.Leu1236Pro) c.3710T>C (p.Leu1237Pro) | |
| 1 | g.201053487A>T | CA344154354 | CACNA1S | c.3767T>A (p.Leu1256His) c.*2930T>A (n.*2930T>A) n.893T>A c.*1285T>A (n.*1285T>A) c.3707T>A (p.Leu1236His) c.3710T>A (p.Leu1237His) | |
| 1 | g.201053488G>A | CA344154355 | CACNA1S | c.3766C>T (p.Leu1256Phe) c.*2929C>T (n.*2929C>T) n.892C>T c.*1284C>T (n.*1284C>T) c.3706C>T (p.Leu1236Phe) c.3709C>T (p.Leu1237Phe) | ClinVar |
| 1 | g.201053488G>C | CA344154370 | CACNA1S | c.3766C>G (p.Leu1256Val) c.*2929C>G (n.*2929C>G) n.892C>G c.*1284C>G (n.*1284C>G) c.3706C>G (p.Leu1236Val) c.3709C>G (p.Leu1237Val) | |
| 1 | g.201053488G>T | CA344154374 | CACNA1S | c.3766C>A (p.Leu1256Ile) c.*2929C>A (n.*2929C>A) n.892C>A c.*1284C>A (n.*1284C>A) c.3706C>A (p.Leu1236Ile) c.3709C>A (p.Leu1237Ile) | |
| 1 | g.201053489G>A | CA422719565 | CACNA1S | c.3765C>T (p.Thr1255=) c.*2928C>T (n.*2928C>T) n.891C>T c.*1283C>T (n.*1283C>T) c.3705C>T (p.Thr1235=) c.3708C>T (p.Thr1236=) | |
| 1 | g.201053489G>C | CA422719567 | CACNA1S | c.3765C>G (p.Thr1255=) c.*2928C>G (n.*2928C>G) n.891C>G c.*1283C>G (n.*1283C>G) c.3705C>G (p.Thr1235=) c.3708C>G (p.Thr1236=) | |
| 1 | g.201053489G>T | CA422719566 | CACNA1S | c.3765C>A (p.Thr1255=) c.*2928C>A (n.*2928C>A) n.891C>A c.*1283C>A (n.*1283C>A) c.3705C>A (p.Thr1235=) c.3708C>A (p.Thr1236=) | |
| 1 | g.201053490G>A | CA344154378 | CACNA1S | c.3764C>T (p.Thr1255Ile) c.*2927C>T (n.*2927C>T) n.890C>T c.*1282C>T (n.*1282C>T) c.3704C>T (p.Thr1235Ile) c.3707C>T (p.Thr1236Ile) | |
| 1 | g.201053490G>C | CA344154377 | CACNA1S | c.3764C>G (p.Thr1255Ser) c.*2927C>G (n.*2927C>G) n.890C>G c.*1282C>G (n.*1282C>G) c.3704C>G (p.Thr1235Ser) c.3707C>G (p.Thr1236Ser) | |
| 1 | g.201053490G= | CA1148412382 | CACNA1S | c.3764C= (p.Thr1255=) c.*2927C= (n.*2927C=) n.890C= c.*1282C= (n.*1282C=) c.3704C= (p.Thr1235=) c.3707C= (p.Thr1236=) | |
| 1 | g.201053490G>T | CA082809 | CACNA1S | c.3764C>A (p.Thr1255Asn) c.*2927C>A (n.*2927C>A) n.890C>A c.*1282C>A (n.*1282C>A) c.3704C>A (p.Thr1235Asn) c.3707C>A (p.Thr1236Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053491T>A | CA344154381 | CACNA1S | c.3763A>T (p.Thr1255Ser) c.*2926A>T (n.*2926A>T) n.889A>T c.*1281A>T (n.*1281A>T) c.3703A>T (p.Thr1235Ser) c.3706A>T (p.Thr1236Ser) | |
| 1 | g.201053491T>C | CA344154384 | CACNA1S | c.3763A>G (p.Thr1255Ala) c.*2926A>G (n.*2926A>G) n.889A>G c.*1281A>G (n.*1281A>G) c.3703A>G (p.Thr1235Ala) c.3706A>G (p.Thr1236Ala) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201053491T>G | CA344154385 | CACNA1S | c.3763A>C (p.Thr1255Pro) c.*2926A>C (n.*2926A>C) n.889A>C c.*1281A>C (n.*1281A>C) c.3703A>C (p.Thr1235Pro) c.3706A>C (p.Thr1236Pro) | |
| 1 | g.201053491T= | CA1219575425 | CACNA1S | c.3763A= (p.Thr1255=) c.*2926A= (n.*2926A=) n.889A= c.*1281A= (n.*1281A=) c.3703A= (p.Thr1235=) c.3706A= (p.Thr1236=) | |
| 1 | g.201053492T>A | CA422719569 | CACNA1S | c.3762A>T (p.Arg1254=) c.*2925A>T (n.*2925A>T) n.888A>T c.*1280A>T (n.*1280A>T) c.3702A>T (p.Arg1234=) c.3705A>T (p.Arg1235=) | |
| 1 | g.201053492T>C | CA422719568 | CACNA1S | c.3762A>G (p.Arg1254=) c.*2925A>G (n.*2925A>G) n.888A>G c.*1280A>G (n.*1280A>G) c.3702A>G (p.Arg1234=) c.3705A>G (p.Arg1235=) | |
| 1 | g.201053492T>G | CA422719570 | CACNA1S | c.3762A>C (p.Arg1254=) c.*2925A>C (n.*2925A>C) n.888A>C c.*1280A>C (n.*1280A>C) c.3702A>C (p.Arg1234=) c.3705A>C (p.Arg1235=) | |
| 1 | g.201053493C>A | CA344154386 | CACNA1S | c.3761G>T (p.Arg1254Leu) c.*2924G>T (n.*2924G>T) n.887G>T c.*1279G>T (n.*1279G>T) c.3701G>T (p.Arg1234Leu) c.3704G>T (p.Arg1235Leu) | |
| 1 | g.201053493C= | CA1144494052 | CACNA1S | c.3761G= (p.Arg1254=) c.*2924G= (n.*2924G=) n.887G= c.*1279G= (n.*1279G=) c.3701G= (p.Arg1234=) c.3704G= (p.Arg1235=) | |
| 1 | g.201053493C>G | CA344154387 | CACNA1S | c.3761G>C (p.Arg1254Pro) c.*2924G>C (n.*2924G>C) n.887G>C c.*1279G>C (n.*1279G>C) c.3701G>C (p.Arg1234Pro) c.3704G>C (p.Arg1235Pro) | |
| 1 | g.201053493C>T | CA082807 | CACNA1S | c.3761G>A (p.Arg1254Gln) c.*2924G>A (n.*2924G>A) n.887G>A c.*1279G>A (n.*1279G>A) c.3701G>A (p.Arg1234Gln) c.3704G>A (p.Arg1235Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201053494G>A | CA344154388 | CACNA1S | c.3760C>T (p.Arg1254Ter) c.*2923C>T (n.*2923C>T) n.886C>T c.*1278C>T (n.*1278C>T) c.3700C>T (p.Arg1234Ter) c.3703C>T (p.Arg1235Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053494G>C | CA082805 | CACNA1S | c.3760C>G (p.Arg1254Gly) c.*2923C>G (n.*2923C>G) n.886C>G c.*1278C>G (n.*1278C>G) c.3700C>G (p.Arg1234Gly) c.3703C>G (p.Arg1235Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053494G= | CA1143390918 | CACNA1S | c.3760C= (p.Arg1254=) c.*2923C= (n.*2923C=) n.886C= c.*1278C= (n.*1278C=) c.3700C= (p.Arg1234=) c.3703C= (p.Arg1235=) | |
| 1 | g.201053494G>T | CA422719571 | CACNA1S | c.3760C>A (p.Arg1254=) c.*2923C>A (n.*2923C>A) n.886C>A c.*1278C>A (n.*1278C>A) c.3700C>A (p.Arg1234=) c.3703C>A (p.Arg1235=) | gnomAD v4 |
| 1 | g.201053495C>A | CA422719572 | CACNA1S | c.3759G>T (p.Val1253=) c.*2922G>T (n.*2922G>T) n.885G>T c.*1277G>T (n.*1277G>T) c.3699G>T (p.Val1233=) c.3702G>T (p.Val1234=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201053495C= | CA1219575426 | CACNA1S | c.3759G= (p.Val1253=) c.*2922G= (n.*2922G=) n.885G= c.*1277G= (n.*1277G=) c.3699G= (p.Val1233=) c.3702G= (p.Val1234=) | |
| 1 | g.201053495C>G | CA422719574 | CACNA1S | c.3759G>C (p.Val1253=) c.*2922G>C (n.*2922G>C) n.885G>C c.*1277G>C (n.*1277G>C) c.3699G>C (p.Val1233=) c.3702G>C (p.Val1234=) | |
| 1 | g.201053495C>T | CA422719573 | CACNA1S | c.3759G>A (p.Val1253=) c.*2922G>A (n.*2922G>A) n.885G>A c.*1277G>A (n.*1277G>A) c.3699G>A (p.Val1233=) c.3702G>A (p.Val1234=) | |
| 1 | g.201053496A= | CA1219575427 | CACNA1S | c.3758T= (p.Val1253=) c.*2921T= (n.*2921T=) n.884T= c.*1276T= (n.*1276T=) c.3698T= (p.Val1233=) c.3701T= (p.Val1234=) | |
| 1 | g.201053496A>C | CA344154396 | CACNA1S | c.3758T>G (p.Val1253Gly) c.*2921T>G (n.*2921T>G) n.884T>G c.*1276T>G (n.*1276T>G) c.3698T>G (p.Val1233Gly) c.3701T>G (p.Val1234Gly) | dbSNP |
| 1 | g.201053496A>G | CA082803 | CACNA1S | c.3758T>C (p.Val1253Ala) c.*2921T>C (n.*2921T>C) n.884T>C c.*1276T>C (n.*1276T>C) c.3698T>C (p.Val1233Ala) c.3701T>C (p.Val1234Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053496A>T | CA344154398 | CACNA1S | c.3758T>A (p.Val1253Glu) c.*2921T>A (n.*2921T>A) n.884T>A c.*1276T>A (n.*1276T>A) c.3698T>A (p.Val1233Glu) c.3701T>A (p.Val1234Glu) | |
| 1 | g.201053497C>A | CA344154404 | CACNA1S | c.3757G>T (p.Val1253Leu) c.*2920G>T (n.*2920G>T) n.883G>T c.*1275G>T (n.*1275G>T) c.3697G>T (p.Val1233Leu) c.3700G>T (p.Val1234Leu) | dbSNP |
| 1 | g.201053497C= | CA1219575428 | CACNA1S | c.3757G= (p.Val1253=) c.*2920G= (n.*2920G=) n.883G= c.*1275G= (n.*1275G=) c.3697G= (p.Val1233=) c.3700G= (p.Val1234=) | |
| 1 | g.201053497C>G | CA344154407 | CACNA1S | c.3757G>C (p.Val1253Leu) c.*2920G>C (n.*2920G>C) n.883G>C c.*1275G>C (n.*1275G>C) c.3697G>C (p.Val1233Leu) c.3700G>C (p.Val1234Leu) | ClinVar dbSNP |
| 1 | g.201053497C>T | CA344154413 | CACNA1S | c.3757G>A (p.Val1253Met) c.*2920G>A (n.*2920G>A) n.883G>A c.*1275G>A (n.*1275G>A) c.3697G>A (p.Val1233Met) c.3700G>A (p.Val1234Met) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201053498T>A | CA422719575 | CACNA1S | c.3756A>T (p.Gly1252=) c.*2919A>T (n.*2919A>T) n.882A>T c.*1274A>T (n.*1274A>T) c.3696A>T (p.Gly1232=) c.3699A>T (p.Gly1233=) | |
| 1 | g.201053498T>C | CA422719576 | CACNA1S | c.3756A>G (p.Gly1252=) c.*2919A>G (n.*2919A>G) n.882A>G c.*1274A>G (n.*1274A>G) c.3696A>G (p.Gly1232=) c.3699A>G (p.Gly1233=) | |
| 1 | g.201053498T>G | CA422719577 | CACNA1S | c.3756A>C (p.Gly1252=) c.*2919A>C (n.*2919A>C) n.882A>C c.*1274A>C (n.*1274A>C) c.3696A>C (p.Gly1232=) c.3699A>C (p.Gly1233=) | gnomAD v4 |
| 1 | g.201053499C>A | CA344154431 | CACNA1S | c.3755G>T (p.Gly1252Val) c.*2918G>T (n.*2918G>T) n.881G>T c.*1273G>T (n.*1273G>T) c.3695G>T (p.Gly1232Val) c.3698G>T (p.Gly1233Val) | |
| 1 | g.201053499C>G | CA344154433 | CACNA1S | c.3755G>C (p.Gly1252Ala) c.*2918G>C (n.*2918G>C) n.881G>C c.*1273G>C (n.*1273G>C) c.3695G>C (p.Gly1232Ala) c.3698G>C (p.Gly1233Ala) | |
| 1 | g.201053499C>T | CA344154422 | CACNA1S | c.3755G>A (p.Gly1252Glu) c.*2918G>A (n.*2918G>A) n.881G>A c.*1273G>A (n.*1273G>A) c.3695G>A (p.Gly1232Glu) c.3698G>A (p.Gly1233Glu) | |
| 1 | g.201053499_201053502delinsCCTT | CA1219575429 | CACNA1S | c.3752_3755delinsAAGG (p.Glu1251=) c.*2915_*2918delinsAAGG (n.*2915_*2918delinsAAGG) n.878_881delinsAAGG c.*1270_*1273delinsAAGG (n.*1270_*1273delinsAAGG) c.3692_3695delinsAAGG (p.Glu1231=) c.3695_3698delinsAAGG (p.Glu1232=) | |
| 1 | g.201053500C>A | CA344154434 | CACNA1S | c.3754G>T (p.Gly1252Ter) c.*2917G>T (n.*2917G>T) n.880G>T c.*1272G>T (n.*1272G>T) c.3694G>T (p.Gly1232Ter) c.3697G>T (p.Gly1233Ter) | |
| 1 | g.201053500C= | CA1219575430 | CACNA1S | c.3754G= (p.Gly1252=) c.*2917G= (n.*2917G=) n.880G= c.*1272G= (n.*1272G=) c.3694G= (p.Gly1232=) c.3697G= (p.Gly1233=) | |
| 1 | g.201053500C>G | CA344154435 | CACNA1S | c.3754G>C (p.Gly1252Arg) c.*2917G>C (n.*2917G>C) n.880G>C c.*1272G>C (n.*1272G>C) c.3694G>C (p.Gly1232Arg) c.3697G>C (p.Gly1233Arg) | |
| 1 | g.201053500C>T | CA082800 | CACNA1S | c.3754G>A (p.Gly1252Arg) c.*2917G>A (n.*2917G>A) n.880G>A c.*1272G>A (n.*1272G>A) c.3694G>A (p.Gly1232Arg) c.3697G>A (p.Gly1233Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201053502_201053504del | CA528536572 | CACNA1S | c.3752_3754del (p.Glu1251del) c.*2915_*2917del (n.*2915_*2917del) n.878_880del c.*1270_*1272del (n.*1270_*1272del) c.3692_3694del (p.Glu1231del) c.3695_3697del (p.Glu1232del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201053501T>A | CA344154437 | CACNA1S | c.3753A>T (p.Glu1251Asp) c.*2916A>T (n.*2916A>T) n.879A>T c.*1271A>T (n.*1271A>T) c.3693A>T (p.Glu1231Asp) c.3696A>T (p.Glu1232Asp) | |
| 1 | g.201053501T>C | CA422719578 | CACNA1S | c.3753A>G (p.Glu1251=) c.*2916A>G (n.*2916A>G) n.879A>G c.*1271A>G (n.*1271A>G) c.3693A>G (p.Glu1231=) c.3696A>G (p.Glu1232=) | |
| 1 | g.201053501T>G | CA344154439 | CACNA1S | c.3753A>C (p.Glu1251Asp) c.*2916A>C (n.*2916A>C) n.879A>C c.*1271A>C (n.*1271A>C) c.3693A>C (p.Glu1231Asp) c.3696A>C (p.Glu1232Asp) | COSMIC |
| 1 | g.201053502T>A | CA344154453 | CACNA1S | c.3752A>T (p.Glu1251Val) c.*2915A>T (n.*2915A>T) n.878A>T c.*1270A>T (n.*1270A>T) c.3692A>T (p.Glu1231Val) c.3695A>T (p.Glu1232Val) | |
| 1 | g.201053502T>C | CA344154448 | CACNA1S | c.3752A>G (p.Glu1251Gly) c.*2915A>G (n.*2915A>G) n.878A>G c.*1270A>G (n.*1270A>G) c.3692A>G (p.Glu1231Gly) c.3695A>G (p.Glu1232Gly) | |
| 1 | g.201053502T>G | CA344154441 | CACNA1S | c.3752A>C (p.Glu1251Ala) c.*2915A>C (n.*2915A>C) n.878A>C c.*1270A>C (n.*1270A>C) c.3692A>C (p.Glu1231Ala) c.3695A>C (p.Glu1232Ala) | |
| 1 | g.201053503C>A | CA344154455 | CACNA1S | c.3751G>T (p.Glu1251Ter) c.*2914G>T (n.*2914G>T) n.877G>T c.*1269G>T (n.*1269G>T) c.3691G>T (p.Glu1231Ter) c.3694G>T (p.Glu1232Ter) | |
| 1 | g.201053503C= | CA1219575431 | CACNA1S | c.3751G= (p.Glu1251=) c.*2914G= (n.*2914G=) n.877G= c.*1269G= (n.*1269G=) c.3691G= (p.Glu1231=) c.3694G= (p.Glu1232=) | |
| 1 | g.201053503C>G | CA344154458 | CACNA1S | c.3751G>C (p.Glu1251Gln) c.*2914G>C (n.*2914G>C) n.877G>C c.*1269G>C (n.*1269G>C) c.3691G>C (p.Glu1231Gln) c.3694G>C (p.Glu1232Gln) | |
| 1 | g.201053503C>T | CA344154464 | CACNA1S | c.3751G>A (p.Glu1251Lys) c.*2914G>A (n.*2914G>A) n.877G>A c.*1269G>A (n.*1269G>A) c.3691G>A (p.Glu1231Lys) c.3694G>A (p.Glu1232Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201053504T>A | CA422719580 | CACNA1S | c.3750A>T (p.Ala1250=) c.*2913A>T (n.*2913A>T) n.876A>T c.*1268A>T (n.*1268A>T) c.3690A>T (p.Ala1230=) c.3693A>T (p.Ala1231=) | |
| 1 | g.201053504T>C | CA422719579 | CACNA1S | c.3750A>G (p.Ala1250=) c.*2913A>G (n.*2913A>G) n.876A>G c.*1268A>G (n.*1268A>G) c.3690A>G (p.Ala1230=) c.3693A>G (p.Ala1231=) | dbSNP |
| 1 | g.201053504T>G | CA422719581 | CACNA1S | c.3750A>C (p.Ala1250=) c.*2913A>C (n.*2913A>C) n.876A>C c.*1268A>C (n.*1268A>C) c.3690A>C (p.Ala1230=) c.3693A>C (p.Ala1231=) | |
| 1 | g.201053504T= | CA1219575432 | CACNA1S | c.3750A= (p.Ala1250=) c.*2913A= (n.*2913A=) n.876A= c.*1268A= (n.*1268A=) c.3690A= (p.Ala1230=) c.3693A= (p.Ala1231=) | |
| 1 | g.201053505G>A | CA344154468 | CACNA1S | c.3749C>T (p.Ala1250Val) c.*2912C>T (n.*2912C>T) n.875C>T c.*1267C>T (n.*1267C>T) c.3689C>T (p.Ala1230Val) c.3692C>T (p.Ala1231Val) | |
| 1 | g.201053505G>C | CA344154471 | CACNA1S | c.3749C>G (p.Ala1250Gly) c.*2912C>G (n.*2912C>G) n.875C>G c.*1267C>G (n.*1267C>G) c.3689C>G (p.Ala1230Gly) c.3692C>G (p.Ala1231Gly) | |
| 1 | g.201053505G>T | CA344154472 | CACNA1S | c.3749C>A (p.Ala1250Glu) c.*2912C>A (n.*2912C>A) n.875C>A c.*1267C>A (n.*1267C>A) c.3689C>A (p.Ala1230Glu) c.3692C>A (p.Ala1231Glu) | |
| 1 | g.201053506C>A | CA344154478 | CACNA1S | c.3748G>T (p.Ala1250Ser) c.*2911G>T (n.*2911G>T) n.874G>T c.*1266G>T (n.*1266G>T) c.3688G>T (p.Ala1230Ser) c.3691G>T (p.Ala1231Ser) | COSMIC |
| 1 | g.201053506C>G | CA344154480 | CACNA1S | c.3748G>C (p.Ala1250Pro) c.*2911G>C (n.*2911G>C) n.874G>C c.*1266G>C (n.*1266G>C) c.3688G>C (p.Ala1230Pro) c.3691G>C (p.Ala1231Pro) | |
| 1 | g.201053506C>T | CA344154479 | CACNA1S | c.3748G>A (p.Ala1250Thr) c.*2911G>A (n.*2911G>A) n.874G>A c.*1266G>A (n.*1266G>A) c.3688G>A (p.Ala1230Thr) c.3691G>A (p.Ala1231Thr) | gnomAD v4 |
| 1 | g.201053507C>A | CA422719582 | CACNA1S | c.3747G>T (p.Arg1249=) c.*2910G>T (n.*2910G>T) n.873G>T c.*1265G>T (n.*1265G>T) c.3687G>T (p.Arg1229=) c.3690G>T (p.Arg1230=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053507C= | CA1219575433 | CACNA1S | c.3747G= (p.Arg1249=) c.*2910G= (n.*2910G=) n.873G= c.*1265G= (n.*1265G=) c.3687G= (p.Arg1229=) c.3690G= (p.Arg1230=) | |
| 1 | g.201053507C>G | CA422719583 | CACNA1S | c.3747G>C (p.Arg1249=) c.*2910G>C (n.*2910G>C) n.873G>C c.*1265G>C (n.*1265G>C) c.3687G>C (p.Arg1229=) c.3690G>C (p.Arg1230=) | |
| 1 | g.201053507C>T | CA422719584 | CACNA1S | c.3747G>A (p.Arg1249=) c.*2910G>A (n.*2910G>A) n.873G>A c.*1265G>A (n.*1265G>A) c.3687G>A (p.Arg1229=) c.3690G>A (p.Arg1230=) | |
| 1 | g.201053508C>A | CA344154481 | CACNA1S | c.3746G>T (p.Arg1249Leu) c.*2909G>T (n.*2909G>T) n.872G>T c.*1264G>T (n.*1264G>T) c.3686G>T (p.Arg1229Leu) c.3689G>T (p.Arg1230Leu) | |
| 1 | g.201053508C= | CA1219575434 | CACNA1S | c.3746G= (p.Arg1249=) c.*2909G= (n.*2909G=) n.872G= c.*1264G= (n.*1264G=) c.3686G= (p.Arg1229=) c.3689G= (p.Arg1230=) | |
| 1 | g.201053508C>G | CA344154482 | CACNA1S | c.3746G>C (p.Arg1249Pro) c.*2909G>C (n.*2909G>C) n.872G>C c.*1264G>C (n.*1264G>C) c.3686G>C (p.Arg1229Pro) c.3689G>C (p.Arg1230Pro) | |
| 1 | g.201053508C>T | CA082794 | CACNA1S | c.3746G>A (p.Arg1249Gln) c.*2909G>A (n.*2909G>A) n.872G>A c.*1264G>A (n.*1264G>A) c.3686G>A (p.Arg1229Gln) c.3689G>A (p.Arg1230Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053509G>A | CA082791 | CACNA1S | c.3745C>T (p.Arg1249Trp) c.*2908C>T (n.*2908C>T) n.871C>T c.*1263C>T (n.*1263C>T) c.3685C>T (p.Arg1229Trp) c.3688C>T (p.Arg1230Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201053509G>C | CA344154495 | CACNA1S | c.3745C>G (p.Arg1249Gly) c.*2908C>G (n.*2908C>G) n.871C>G c.*1263C>G (n.*1263C>G) c.3685C>G (p.Arg1229Gly) c.3688C>G (p.Arg1230Gly) | |
| 1 | g.201053509G= | CA1219575435 | CACNA1S | c.3745C= (p.Arg1249=) c.*2908C= (n.*2908C=) n.871C= c.*1263C= (n.*1263C=) c.3685C= (p.Arg1229=) c.3688C= (p.Arg1230=) | |
| 1 | g.201053509G>T | CA422719585 | CACNA1S | c.3745C>A (p.Arg1249=) c.*2908C>A (n.*2908C>A) n.871C>A c.*1263C>A (n.*1263C>A) c.3685C>A (p.Arg1229=) c.3688C>A (p.Arg1230=) | |
| 1 | g.201053510G>A | CA422719586 | CACNA1S | c.3744C>T (p.Ser1248=) c.*2907C>T (n.*2907C>T) n.870C>T c.*1262C>T (n.*1262C>T) c.3684C>T (p.Ser1228=) c.3687C>T (p.Ser1229=) | |
| 1 | g.201053510G>C | CA344154499 | CACNA1S | c.3744C>G (p.Ser1248Arg) c.*2907C>G (n.*2907C>G) n.870C>G c.*1262C>G (n.*1262C>G) c.3684C>G (p.Ser1228Arg) c.3687C>G (p.Ser1229Arg) | |
| 1 | g.201053510G>T | CA344154502 | CACNA1S | c.3744C>A (p.Ser1248Arg) c.*2907C>A (n.*2907C>A) n.870C>A c.*1262C>A (n.*1262C>A) c.3684C>A (p.Ser1228Arg) c.3687C>A (p.Ser1229Arg) | |
| 1 | g.201053511C>A | CA344154503 | CACNA1S | c.3743G>T (p.Ser1248Ile) c.*2906G>T (n.*2906G>T) n.869G>T c.*1261G>T (n.*1261G>T) c.3683G>T (p.Ser1228Ile) c.3686G>T (p.Ser1229Ile) | |
| 1 | g.201053511C= | CA1219575436 | CACNA1S | c.3743G= (p.Ser1248=) c.*2906G= (n.*2906G=) n.869G= c.*1261G= (n.*1261G=) c.3683G= (p.Ser1228=) c.3686G= (p.Ser1229=) | |
| 1 | g.201053511C>G | CA344154504 | CACNA1S | c.3743G>C (p.Ser1248Thr) c.*2906G>C (n.*2906G>C) n.869G>C c.*1261G>C (n.*1261G>C) c.3683G>C (p.Ser1228Thr) c.3686G>C (p.Ser1229Thr) | |
| 1 | g.201053511C>T | CA344154505 | CACNA1S | c.3743G>A (p.Ser1248Asn) c.*2906G>A (n.*2906G>A) n.869G>A c.*1261G>A (n.*1261G>A) c.3683G>A (p.Ser1228Asn) c.3686G>A (p.Ser1229Asn) | dbSNP |
| 1 | g.201053512T>A | CA344154517 | CACNA1S | c.3742A>T (p.Ser1248Cys) c.*2905A>T (n.*2905A>T) n.868A>T c.*1260A>T (n.*1260A>T) c.3682A>T (p.Ser1228Cys) c.3685A>T (p.Ser1229Cys) | |
| 1 | g.201053512T>C | CA344154526 | CACNA1S | c.3742A>G (p.Ser1248Gly) c.*2905A>G (n.*2905A>G) n.868A>G c.*1260A>G (n.*1260A>G) c.3682A>G (p.Ser1228Gly) c.3685A>G (p.Ser1229Gly) | |
| 1 | g.201053512T>G | CA344154521 | CACNA1S | c.3742A>C (p.Ser1248Arg) c.*2905A>C (n.*2905A>C) n.868A>C c.*1260A>C (n.*1260A>C) c.3682A>C (p.Ser1228Arg) c.3685A>C (p.Ser1229Arg) | |
| 1 | g.201053513C>A | CA422719588 | CACNA1S | c.3741G>T (p.Leu1247=) c.*2904G>T (n.*2904G>T) n.867G>T c.*1259G>T (n.*1259G>T) c.3681G>T (p.Leu1227=) c.3684G>T (p.Leu1228=) | |
| 1 | g.201053513C= | CA1219575437 | CACNA1S | c.3741G= (p.Leu1247=) c.*2904G= (n.*2904G=) n.867G= c.*1259G= (n.*1259G=) c.3681G= (p.Leu1227=) c.3684G= (p.Leu1228=) | |
| 1 | g.201053513C>G | CA422719587 | CACNA1S | c.3741G>C (p.Leu1247=) c.*2904G>C (n.*2904G>C) n.867G>C c.*1259G>C (n.*1259G>C) c.3681G>C (p.Leu1227=) c.3684G>C (p.Leu1228=) | |
| 1 | g.201053513C>T | CA082789 | CACNA1S | c.3741G>A (p.Leu1247=) c.*2904G>A (n.*2904G>A) n.867G>A c.*1259G>A (n.*1259G>A) c.3681G>A (p.Leu1227=) c.3684G>A (p.Leu1228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053514A>C | CA344154538 | CACNA1S | c.3740T>G (p.Leu1247Arg) c.*2903T>G (n.*2903T>G) n.866T>G c.*1258T>G (n.*1258T>G) c.3680T>G (p.Leu1227Arg) c.3683T>G (p.Leu1228Arg) | |
| 1 | g.201053514A>G | CA344154531 | CACNA1S | c.3740T>C (p.Leu1247Pro) c.*2903T>C (n.*2903T>C) n.866T>C c.*1258T>C (n.*1258T>C) c.3680T>C (p.Leu1227Pro) c.3683T>C (p.Leu1228Pro) | |
| 1 | g.201053514A>T | CA344154536 | CACNA1S | c.3740T>A (p.Leu1247Gln) c.*2903T>A (n.*2903T>A) n.866T>A c.*1258T>A (n.*1258T>A) c.3680T>A (p.Leu1227Gln) c.3683T>A (p.Leu1228Gln) | |
| 1 | g.201053515G>A | CA422719589 | CACNA1S | c.3739C>T (p.Leu1247=) c.*2902C>T (n.*2902C>T) n.865C>T c.*1257C>T (n.*1257C>T) c.3679C>T (p.Leu1227=) c.3682C>T (p.Leu1228=) | gnomAD v4 |
| 1 | g.201053515G>C | CA344154541 | CACNA1S | c.3739C>G (p.Leu1247Val) c.*2902C>G (n.*2902C>G) n.865C>G c.*1257C>G (n.*1257C>G) c.3679C>G (p.Leu1227Val) c.3682C>G (p.Leu1228Val) | |
| 1 | g.201053515G>T | CA344154542 | CACNA1S | c.3739C>A (p.Leu1247Met) c.*2902C>A (n.*2902C>A) n.865C>A c.*1257C>A (n.*1257C>A) c.3679C>A (p.Leu1227Met) c.3682C>A (p.Leu1228Met) | |
| 1 | g.201053516C>A | CA422719592 | CACNA1S | c.3738G>T (p.Leu1246=) c.*2901G>T (n.*2901G>T) n.864G>T c.*1256G>T (n.*1256G>T) c.3678G>T (p.Leu1226=) c.3681G>T (p.Leu1227=) | |
| 1 | g.201053516C>G | CA422719590 | CACNA1S | c.3738G>C (p.Leu1246=) c.*2901G>C (n.*2901G>C) n.864G>C c.*1256G>C (n.*1256G>C) c.3678G>C (p.Leu1226=) c.3681G>C (p.Leu1227=) | |
| 1 | g.201053516C>T | CA422719591 | CACNA1S | c.3738G>A (p.Leu1246=) c.*2901G>A (n.*2901G>A) n.864G>A c.*1256G>A (n.*1256G>A) c.3678G>A (p.Leu1226=) c.3681G>A (p.Leu1227=) | |
| 1 | g.201053517A>C | CA344154543 | CACNA1S | c.3737T>G (p.Leu1246Arg) c.*2900T>G (n.*2900T>G) n.863T>G c.*1255T>G (n.*1255T>G) c.3677T>G (p.Leu1226Arg) c.3680T>G (p.Leu1227Arg) | |
| 1 | g.201053517A>G | CA344154546 | CACNA1S | c.3737T>C (p.Leu1246Pro) c.*2900T>C (n.*2900T>C) n.863T>C c.*1255T>C (n.*1255T>C) c.3677T>C (p.Leu1226Pro) c.3680T>C (p.Leu1227Pro) | |
| 1 | g.201053517A>T | CA344154548 | CACNA1S | c.3737T>A (p.Leu1246Gln) c.*2900T>A (n.*2900T>A) n.863T>A c.*1255T>A (n.*1255T>A) c.3677T>A (p.Leu1226Gln) c.3680T>A (p.Leu1227Gln) | |
| 1 | g.201053518G>A | CA422719593 | CACNA1S | c.3736C>T (p.Leu1246=) c.*2899C>T (n.*2899C>T) n.862C>T c.*1254C>T (n.*1254C>T) c.3676C>T (p.Leu1226=) c.3679C>T (p.Leu1227=) | |
| 1 | g.201053518G>C | CA344154555 | CACNA1S | c.3736C>G (p.Leu1246Val) c.*2899C>G (n.*2899C>G) n.862C>G c.*1254C>G (n.*1254C>G) c.3676C>G (p.Leu1226Val) c.3679C>G (p.Leu1227Val) | |
| 1 | g.201053518G>T | CA344154560 | CACNA1S | c.3736C>A (p.Leu1246Met) c.*2899C>A (n.*2899C>A) n.862C>A c.*1254C>A (n.*1254C>A) c.3676C>A (p.Leu1226Met) c.3679C>A (p.Leu1227Met) | |
| 1 | g.201053519C>A | CA344154563 | CACNA1S | c.3735G>T (p.Lys1245Asn) c.*2898G>T (n.*2898G>T) n.861G>T c.*1253G>T (n.*1253G>T) c.3675G>T (p.Lys1225Asn) c.3678G>T (p.Lys1226Asn) | |
| 1 | g.201053519C= | CA1219575438 | CACNA1S | c.3735G= (p.Lys1245=) c.*2898G= (n.*2898G=) n.861G= c.*1253G= (n.*1253G=) c.3675G= (p.Lys1225=) c.3678G= (p.Lys1226=) | |
| 1 | g.201053519C>G | CA36002749 | CACNA1S | c.3735G>C (p.Lys1245Asn) c.*2898G>C (n.*2898G>C) n.861G>C c.*1253G>C (n.*1253G>C) c.3675G>C (p.Lys1225Asn) c.3678G>C (p.Lys1226Asn) | dbSNP |
| 1 | g.201053519C>T | CA422719594 | CACNA1S | c.3735G>A (p.Lys1245=) c.*2898G>A (n.*2898G>A) n.861G>A c.*1253G>A (n.*1253G>A) c.3675G>A (p.Lys1225=) c.3678G>A (p.Lys1226=) | |
| 1 | g.201053520T>A | CA344154581 | CACNA1S | c.3734A>T (p.Lys1245Met) c.*2897A>T (n.*2897A>T) n.860A>T c.*1252A>T (n.*1252A>T) c.3674A>T (p.Lys1225Met) c.3677A>T (p.Lys1226Met) | |
| 1 | g.201053520T>C | CA344154574 | CACNA1S | c.3734A>G (p.Lys1245Arg) c.*2897A>G (n.*2897A>G) n.860A>G c.*1252A>G (n.*1252A>G) c.3674A>G (p.Lys1225Arg) c.3677A>G (p.Lys1226Arg) | |
| 1 | g.201053520T>G | CA344154579 | CACNA1S | c.3734A>C (p.Lys1245Thr) c.*2897A>C (n.*2897A>C) n.860A>C c.*1252A>C (n.*1252A>C) c.3674A>C (p.Lys1225Thr) c.3677A>C (p.Lys1226Thr) | |
| 1 | g.201053521T>A | CA344154593 | CACNA1S | c.3733A>T (p.Lys1245Ter) c.*2896A>T (n.*2896A>T) n.859A>T c.*1251A>T (n.*1251A>T) c.3673A>T (p.Lys1225Ter) c.3676A>T (p.Lys1226Ter) | |
| 1 | g.201053521T>C | CA344154596 | CACNA1S | c.3733A>G (p.Lys1245Glu) c.*2896A>G (n.*2896A>G) n.859A>G c.*1251A>G (n.*1251A>G) c.3673A>G (p.Lys1225Glu) c.3676A>G (p.Lys1226Glu) | |
| 1 | g.201053521T>G | CA36002757 | CACNA1S | c.3733A>C (p.Lys1245Gln) c.*2896A>C (n.*2896A>C) n.859A>C c.*1251A>C (n.*1251A>C) c.3673A>C (p.Lys1225Gln) c.3676A>C (p.Lys1226Gln) | dbSNP |
| 1 | g.201053521T= | CA1143390919 | CACNA1S | c.3733A= (p.Lys1245=) c.*2896A= (n.*2896A=) n.859A= c.*1251A= (n.*1251A=) c.3673A= (p.Lys1225=) c.3676A= (p.Lys1226=) | |
| 1 | g.201053522G>A | CA422719595 | CACNA1S | c.3732C>T (p.Ile1244=) c.*2895C>T (n.*2895C>T) n.858C>T c.*1250C>T (n.*1250C>T) c.3672C>T (p.Ile1224=) c.3675C>T (p.Ile1225=) | gnomAD v4 |
| 1 | g.201053522G>C | CA344154608 | CACNA1S | c.3732C>G (p.Ile1244Met) c.*2895C>G (n.*2895C>G) n.858C>G c.*1250C>G (n.*1250C>G) c.3672C>G (p.Ile1224Met) c.3675C>G (p.Ile1225Met) | |
| 1 | g.201053522G>T | CA422719596 | CACNA1S | c.3732C>A (p.Ile1244=) c.*2895C>A (n.*2895C>A) n.858C>A c.*1250C>A (n.*1250C>A) c.3672C>A (p.Ile1224=) c.3675C>A (p.Ile1225=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201053523A>C | CA344154612 | CACNA1S | c.3731T>G (p.Ile1244Ser) c.*2894T>G (n.*2894T>G) n.857T>G c.*1249T>G (n.*1249T>G) c.3671T>G (p.Ile1224Ser) c.3674T>G (p.Ile1225Ser) | |
| 1 | g.201053523A>G | CA344154613 | CACNA1S | c.3731T>C (p.Ile1244Thr) c.*2894T>C (n.*2894T>C) n.857T>C c.*1249T>C (n.*1249T>C) c.3671T>C (p.Ile1224Thr) c.3674T>C (p.Ile1225Thr) | |
| 1 | g.201053523A>T | CA344154616 | CACNA1S | c.3731T>A (p.Ile1244Asn) c.*2894T>A (n.*2894T>A) n.857T>A c.*1249T>A (n.*1249T>A) c.3671T>A (p.Ile1224Asn) c.3674T>A (p.Ile1225Asn) | |
| 1 | g.201053524T>A | CA344154618 | CACNA1S | c.3730A>T (p.Ile1244Phe) c.*2893A>T (n.*2893A>T) n.856A>T c.*1248A>T (n.*1248A>T) c.3670A>T (p.Ile1224Phe) c.3673A>T (p.Ile1225Phe) | |
| 1 | g.201053524T>C | CA344154619 | CACNA1S | c.3730A>G (p.Ile1244Val) c.*2893A>G (n.*2893A>G) n.856A>G c.*1248A>G (n.*1248A>G) c.3670A>G (p.Ile1224Val) c.3673A>G (p.Ile1225Val) | |
| 1 | g.201053524T>G | CA344154620 | CACNA1S | c.3730A>C (p.Ile1244Leu) c.*2893A>C (n.*2893A>C) n.856A>C c.*1248A>C (n.*1248A>C) c.3670A>C (p.Ile1224Leu) c.3673A>C (p.Ile1225Leu) | |
| 1 | g.201053525C>A | CA422719597 | CACNA1S | c.3729G>T (p.Leu1243=) c.*2892G>T (n.*2892G>T) n.855G>T c.*1247G>T (n.*1247G>T) c.3669G>T (p.Leu1223=) c.3672G>T (p.Leu1224=) | |
| 1 | g.201053525C= | CA1143746009 | CACNA1S | c.3729G= (p.Leu1243=) c.*2892G= (n.*2892G=) n.855G= c.*1247G= (n.*1247G=) c.3669G= (p.Leu1223=) c.3672G= (p.Leu1224=) | |
| 1 | g.201053525C>G | CA422719598 | CACNA1S | c.3729G>C (p.Leu1243=) c.*2892G>C (n.*2892G>C) n.855G>C c.*1247G>C (n.*1247G>C) c.3669G>C (p.Leu1223=) c.3672G>C (p.Leu1224=) | |
| 1 | g.201053525C>T | CA082785 | CACNA1S | c.3729G>A (p.Leu1243=) c.*2892G>A (n.*2892G>A) n.855G>A c.*1247G>A (n.*1247G>A) c.3669G>A (p.Leu1223=) c.3672G>A (p.Leu1224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053526A= | CA1219575439 | CACNA1S | c.3728T= (p.Leu1243=) c.*2891T= (n.*2891T=) n.854T= c.*1246T= (n.*1246T=) c.3668T= (p.Leu1223=) c.3671T= (p.Leu1224=) | |
| 1 | g.201053526A>C | CA344154633 | CACNA1S | c.3728T>G (p.Leu1243Arg) c.*2891T>G (n.*2891T>G) n.854T>G c.*1246T>G (n.*1246T>G) c.3668T>G (p.Leu1223Arg) c.3671T>G (p.Leu1224Arg) | |
| 1 | g.201053526A>G | CA344154647 | CACNA1S | c.3728T>C (p.Leu1243Pro) c.*2891T>C (n.*2891T>C) n.854T>C c.*1246T>C (n.*1246T>C) c.3668T>C (p.Leu1223Pro) c.3671T>C (p.Leu1224Pro) | |
| 1 | g.201053526A>T | CA082784 | CACNA1S | c.3728T>A (p.Leu1243Gln) c.*2891T>A (n.*2891T>A) n.854T>A c.*1246T>A (n.*1246T>A) c.3668T>A (p.Leu1223Gln) c.3671T>A (p.Leu1224Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201053527G>A | CA422719599 | CACNA1S | c.3727C>T (p.Leu1243=) c.*2890C>T (n.*2890C>T) n.853C>T c.*1245C>T (n.*1245C>T) c.3667C>T (p.Leu1223=) c.3670C>T (p.Leu1224=) | ClinVar |
| 1 | g.201053527G>C | CA082782 | CACNA1S | c.3727C>G (p.Leu1243Val) c.*2890C>G (n.*2890C>G) n.853C>G c.*1245C>G (n.*1245C>G) c.3667C>G (p.Leu1223Val) c.3670C>G (p.Leu1224Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053527G= | CA1219575440 | CACNA1S | c.3727C= (p.Leu1243=) c.*2890C= (n.*2890C=) n.853C= c.*1245C= (n.*1245C=) c.3667C= (p.Leu1223=) c.3670C= (p.Leu1224=) | |
| 1 | g.201053527G>T | CA344154652 | CACNA1S | c.3727C>A (p.Leu1243Met) c.*2890C>A (n.*2890C>A) n.853C>A c.*1245C>A (n.*1245C>A) c.3667C>A (p.Leu1223Met) c.3670C>A (p.Leu1224Met) | |
| 1 | g.201053528C>A | CA344154656 | CACNA1S | c.3726G>T (p.Arg1242Ser) c.*2889G>T (n.*2889G>T) n.852G>T c.*1244G>T (n.*1244G>T) c.3666G>T (p.Arg1222Ser) c.3669G>T (p.Arg1223Ser) | ClinVar |
| 1 | g.201053528C>G | CA344154662 | CACNA1S | c.3726G>C (p.Arg1242Ser) c.*2889G>C (n.*2889G>C) n.852G>C c.*1244G>C (n.*1244G>C) c.3666G>C (p.Arg1222Ser) c.3669G>C (p.Arg1223Ser) | |
| 1 | g.201053528C>T | CA422719600 | CACNA1S | c.3726G>A (p.Arg1242=) c.*2889G>A (n.*2889G>A) n.852G>A c.*1244G>A (n.*1244G>A) c.3666G>A (p.Arg1222=) c.3669G>A (p.Arg1223=) | |
| 1 | g.201053529C>A | CA344154667 | CACNA1S | c.3725G>T (p.Arg1242Met) c.*2888G>T (n.*2888G>T) n.851G>T c.*1243G>T (n.*1243G>T) c.3665G>T (p.Arg1222Met) c.3668G>T (p.Arg1223Met) | |
| 1 | g.201053529C= | CA1219575441 | CACNA1S | c.3725G= (p.Arg1242=) c.*2888G= (n.*2888G=) n.851G= c.*1243G= (n.*1243G=) c.3665G= (p.Arg1222=) c.3668G= (p.Arg1223=) | |
| 1 | g.201053529C>G | CA344154668 | CACNA1S | c.3725G>C (p.Arg1242Thr) c.*2888G>C (n.*2888G>C) n.851G>C c.*1243G>C (n.*1243G>C) c.3665G>C (p.Arg1222Thr) c.3668G>C (p.Arg1223Thr) | |
| 1 | g.201053529C>T | CA082779 | CACNA1S | c.3725G>A (p.Arg1242Lys) c.*2888G>A (n.*2888G>A) n.851G>A c.*1243G>A (n.*1243G>A) c.3665G>A (p.Arg1222Lys) c.3668G>A (p.Arg1223Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053530T>A | CA344154671 | CACNA1S | c.3724A>T (p.Arg1242Trp) c.*2887A>T (n.*2887A>T) n.850A>T c.*1242A>T (n.*1242A>T) c.3664A>T (p.Arg1222Trp) c.3667A>T (p.Arg1223Trp) | |
| 1 | g.201053530T>C | CA344154672 | CACNA1S | c.3724A>G (p.Arg1242Gly) c.*2887A>G (n.*2887A>G) n.850A>G c.*1242A>G (n.*1242A>G) c.3664A>G (p.Arg1222Gly) c.3667A>G (p.Arg1223Gly) | ClinVar dbSNP |
| 1 | g.201053530T>G | CA422719601 | CACNA1S | c.3724A>C (p.Arg1242=) c.*2887A>C (n.*2887A>C) n.850A>C c.*1242A>C (n.*1242A>C) c.3664A>C (p.Arg1222=) c.3667A>C (p.Arg1223=) | |
| 1 | g.201053531C>A | CA344154676 | CACNA1S | c.3723G>T (p.Met1241Ile) c.*2886G>T (n.*2886G>T) n.849G>T c.*1241G>T (n.*1241G>T) c.3663G>T (p.Met1221Ile) c.3666G>T (p.Met1222Ile) | |
| 1 | g.201053531C>G | CA344154680 | CACNA1S | c.3723G>C (p.Met1241Ile) c.*2886G>C (n.*2886G>C) n.849G>C c.*1241G>C (n.*1241G>C) c.3663G>C (p.Met1221Ile) c.3666G>C (p.Met1222Ile) | |
| 1 | g.201053531C>T | CA344154683 | CACNA1S | c.3723G>A (p.Met1241Ile) c.*2886G>A (n.*2886G>A) n.849G>A c.*1241G>A (n.*1241G>A) c.3663G>A (p.Met1221Ile) c.3666G>A (p.Met1222Ile) | |
| 1 | g.201053532A= | CA1219575442 | CACNA1S | c.3722T= (p.Met1241=) c.*2885T= (n.*2885T=) n.848T= c.*1240T= (n.*1240T=) c.3662T= (p.Met1221=) c.3665T= (p.Met1222=) | |
| 1 | g.201053532A>C | CA344154700 | CACNA1S | c.3722T>G (p.Met1241Arg) c.*2885T>G (n.*2885T>G) n.848T>G c.*1240T>G (n.*1240T>G) c.3662T>G (p.Met1221Arg) c.3665T>G (p.Met1222Arg) | gnomAD v4 |
| 1 | g.201053532A>G | CA082777 | CACNA1S | c.3722T>C (p.Met1241Thr) c.*2885T>C (n.*2885T>C) n.848T>C c.*1240T>C (n.*1240T>C) c.3662T>C (p.Met1221Thr) c.3665T>C (p.Met1222Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201053532A>T | CA344154692 | CACNA1S | c.3722T>A (p.Met1241Lys) c.*2885T>A (n.*2885T>A) n.848T>A c.*1240T>A (n.*1240T>A) c.3662T>A (p.Met1221Lys) c.3665T>A (p.Met1222Lys) | |
| 1 | g.201053533T>A | CA344154704 | CACNA1S | c.3721A>T (p.Met1241Leu) c.*2884A>T (n.*2884A>T) n.847A>T c.*1239A>T (n.*1239A>T) c.3661A>T (p.Met1221Leu) c.3664A>T (p.Met1222Leu) | dbSNP |
| 1 | g.201053533T>C | CA344154709 | CACNA1S | c.3721A>G (p.Met1241Val) c.*2884A>G (n.*2884A>G) n.847A>G c.*1239A>G (n.*1239A>G) c.3661A>G (p.Met1221Val) c.3664A>G (p.Met1222Val) | COSMIC |
| 1 | g.201053533T>G | CA344154713 | CACNA1S | c.3721A>C (p.Met1241Leu) c.*2884A>C (n.*2884A>C) n.847A>C c.*1239A>C (n.*1239A>C) c.3661A>C (p.Met1221Leu) c.3664A>C (p.Met1222Leu) | |
| 1 | g.201053533T= | CA1219575443 | CACNA1S | c.3721A= (p.Met1241=) c.*2884A= (n.*2884A=) n.847A= c.*1239A= (n.*1239A=) c.3661A= (p.Met1221=) c.3664A= (p.Met1222=) | |
| 1 | g.201053534G>A | CA422719602 | CACNA1S | c.3720C>T (p.Val1240=) c.*2883C>T (n.*2883C>T) n.846C>T c.*1238C>T (n.*1238C>T) c.3660C>T (p.Val1220=) c.3663C>T (p.Val1221=) | ClinVar dbSNP |
| 1 | g.201053534G>C | CA422719604 | CACNA1S | c.3720C>G (p.Val1240=) c.*2883C>G (n.*2883C>G) n.846C>G c.*1238C>G (n.*1238C>G) c.3660C>G (p.Val1220=) c.3663C>G (p.Val1221=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201053534G= | CA1219575444 | CACNA1S | c.3720C= (p.Val1240=) c.*2883C= (n.*2883C=) n.846C= c.*1238C= (n.*1238C=) c.3660C= (p.Val1220=) c.3663C= (p.Val1221=) | |
| 1 | g.201053534G>T | CA422719603 | CACNA1S | c.3720C>A (p.Val1240=) c.*2883C>A (n.*2883C>A) n.846C>A c.*1238C>A (n.*1238C>A) c.3660C>A (p.Val1220=) c.3663C>A (p.Val1221=) | |
| 1 | g.201053535A>C | CA344154716 | CACNA1S | c.3719T>G (p.Val1240Gly) c.*2882T>G (n.*2882T>G) n.845T>G c.*1237T>G (n.*1237T>G) c.3659T>G (p.Val1220Gly) c.3662T>G (p.Val1221Gly) | |
| 1 | g.201053535A>G | CA344154719 | CACNA1S | c.3719T>C (p.Val1240Ala) c.*2882T>C (n.*2882T>C) n.845T>C c.*1237T>C (n.*1237T>C) c.3659T>C (p.Val1220Ala) c.3662T>C (p.Val1221Ala) | |
| 1 | g.201053535A>T | CA344154722 | CACNA1S | c.3719T>A (p.Val1240Asp) c.*2882T>A (n.*2882T>A) n.845T>A c.*1237T>A (n.*1237T>A) c.3659T>A (p.Val1220Asp) c.3662T>A (p.Val1221Asp) | |
| 1 | g.201053536C>A | CA344154726 | CACNA1S | c.3718G>T (p.Val1240Phe) c.*2881G>T (n.*2881G>T) n.844G>T c.*1236G>T (n.*1236G>T) c.3658G>T (p.Val1220Phe) c.3661G>T (p.Val1221Phe) | |
| 1 | g.201053536C>G | CA344154731 | CACNA1S | c.3718G>C (p.Val1240Leu) c.*2881G>C (n.*2881G>C) n.844G>C c.*1236G>C (n.*1236G>C) c.3658G>C (p.Val1220Leu) c.3661G>C (p.Val1221Leu) | |
| 1 | g.201053536C>T | CA344154733 | CACNA1S | c.3718G>A (p.Val1240Ile) c.*2881G>A (n.*2881G>A) n.844G>A c.*1236G>A (n.*1236G>A) c.3658G>A (p.Val1220Ile) c.3661G>A (p.Val1221Ile) | |
| 1 | g.201053537A>C | CA422719605 | CACNA1S | c.3717T>G (p.Arg1239=) c.*2880T>G (n.*2880T>G) n.843T>G c.*1235T>G (n.*1235T>G) c.3657T>G (p.Arg1219=) c.3660T>G (p.Arg1220=) | |
| 1 | g.201053537A>G | CA422719607 | CACNA1S | c.3717T>C (p.Arg1239=) c.*2880T>C (n.*2880T>C) n.843T>C c.*1235T>C (n.*1235T>C) c.3657T>C (p.Arg1219=) c.3660T>C (p.Arg1220=) | |
| 1 | g.201053537A>T | CA422719606 | CACNA1S | c.3717T>A (p.Arg1239=) c.*2880T>A (n.*2880T>A) n.843T>A c.*1235T>A (n.*1235T>A) c.3657T>A (p.Arg1219=) c.3660T>A (p.Arg1220=) | gnomAD v4 |
| 1 | g.201053538C>A | CA344154737 | CACNA1S | c.3716G>T (p.Arg1239Leu) c.*2879G>T (n.*2879G>T) n.842G>T c.*1234G>T (n.*1234G>T) c.3656G>T (p.Arg1219Leu) c.3659G>T (p.Arg1220Leu) | |
| 1 | g.201053538C= | CA1140496126 | CACNA1S | c.3716G= (p.Arg1239=) c.*2879G= (n.*2879G=) n.842G= c.*1234G= (n.*1234G=) c.3656G= (p.Arg1219=) c.3659G= (p.Arg1220=) | |
| 1 | g.201053538C>G | CA344154739 | CACNA1S | c.3716G>C (p.Arg1239Pro) c.*2879G>C (n.*2879G>C) n.842G>C c.*1234G>C (n.*1234G>C) c.3656G>C (p.Arg1219Pro) c.3659G>C (p.Arg1220Pro) | gnomAD v4 |
| 1 | g.201053538C>T | CA004054 | CACNA1S | c.3716G>A (p.Arg1239His) c.*2879G>A (n.*2879G>A) n.842G>A c.*1234G>A (n.*1234G>A) c.3656G>A (p.Arg1219His) c.3659G>A (p.Arg1220His) | ClinVar dbSNP |
| 1 | g.201053538_201053539delinsCG | CA1219575445 | CACNA1S | c.3715_3716delinsCG (p.Arg1239=) c.*2878_*2879delinsCG (n.*2878_*2879delinsCG) n.841_842delinsCG c.*1233_*1234delinsCG (n.*1233_*1234delinsCG) c.3655_3656delinsCG (p.Arg1219=) c.3658_3659delinsCG (p.Arg1220=) | |
| 1 | g.201053539G>A | CA344154758 | CACNA1S | c.3715C>T (p.Arg1239Cys) c.*2878C>T (n.*2878C>T) n.841C>T c.*1233C>T (n.*1233C>T) c.3655C>T (p.Arg1219Cys) c.3658C>T (p.Arg1220Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201053539G>C | CA004048 | CACNA1S | c.3715C>G (p.Arg1239Gly) c.*2878C>G (n.*2878C>G) n.841C>G c.*1233C>G (n.*1233C>G) c.3655C>G (p.Arg1219Gly) c.3658C>G (p.Arg1220Gly) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201053539G= | CA1140496127 | CACNA1S | c.3715C= (p.Arg1239=) c.*2878C= (n.*2878C=) n.841C= c.*1233C= (n.*1233C=) c.3655C= (p.Arg1219=) c.3658C= (p.Arg1220=) | |
| 1 | g.201053539G>T | CA344154755 | CACNA1S | c.3715C>A (p.Arg1239Ser) c.*2878C>A (n.*2878C>A) n.841C>A c.*1233C>A (n.*1233C>A) c.3655C>A (p.Arg1219Ser) c.3658C>A (p.Arg1220Ser) | |
| 1 | g.201053540del | CA082775 | CACNA1S | c.3715del (p.Arg1239ValfsTer3) c.*2878del (n.*2878del) n.841del c.*1233del (n.*1233del) c.3655del (p.Arg1219ValfsTer3) c.3658del (p.Arg1220ValfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201053540G>A | CA422719608 | CACNA1S | c.3714C>T (p.Phe1238=) c.*2877C>T (n.*2877C>T) n.840C>T c.*1232C>T (n.*1232C>T) c.3654C>T (p.Phe1218=) c.3657C>T (p.Phe1219=) | |
| 1 | g.201053540G>C | CA344154771 | CACNA1S | c.3714C>G (p.Phe1238Leu) c.*2877C>G (n.*2877C>G) n.840C>G c.*1232C>G (n.*1232C>G) c.3654C>G (p.Phe1218Leu) c.3657C>G (p.Phe1219Leu) | |
| 1 | g.201053540G>T | CA344154768 | CACNA1S | c.3714C>A (p.Phe1238Leu) c.*2877C>A (n.*2877C>A) n.840C>A c.*1232C>A (n.*1232C>A) c.3654C>A (p.Phe1218Leu) c.3657C>A (p.Phe1219Leu) | |
| 1 | g.201053541A>C | CA344154774 | CACNA1S | c.3713T>G (p.Phe1238Cys) c.*2876T>G (n.*2876T>G) n.839T>G c.*1231T>G (n.*1231T>G) c.3653T>G (p.Phe1218Cys) c.3656T>G (p.Phe1219Cys) | |
| 1 | g.201053541A>G | CA344154776 | CACNA1S | c.3713T>C (p.Phe1238Ser) c.*2876T>C (n.*2876T>C) n.839T>C c.*1231T>C (n.*1231T>C) c.3653T>C (p.Phe1218Ser) c.3656T>C (p.Phe1219Ser) | |
| 1 | g.201053541A>T | CA344154779 | CACNA1S | c.3713T>A (p.Phe1238Tyr) c.*2876T>A (n.*2876T>A) n.839T>A c.*1231T>A (n.*1231T>A) c.3653T>A (p.Phe1218Tyr) c.3656T>A (p.Phe1219Tyr) |