Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.39679395G>A | CA10244960 | CACNA1I | c.5344G>A (p.Gly1782Arg) c.5239G>A (p.Gly1747Arg) c.3490G>A (p.Gly1164Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.39679395G>C | CA411636162 | CACNA1I | c.5344G>C (p.Gly1782Arg) c.5239G>C (p.Gly1747Arg) c.3490G>C (p.Gly1164Arg) | |
22 | g.39679395G= | CA2405415114 | CACNA1I | c.5344G= (p.Gly1782=) c.5239G= (p.Gly1747=) c.3490G= (p.Gly1164=) | |
22 | g.39679395G>T | CA411636163 | CACNA1I | c.5344G>T (p.Gly1782Trp) c.5239G>T (p.Gly1747Trp) c.3490G>T (p.Gly1164Trp) | |
22 | g.39679396G>A | CA411636171 | CACNA1I | c.5345G>A (p.Gly1782Glu) c.5240G>A (p.Gly1747Glu) c.3491G>A (p.Gly1164Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.39679396G>C | CA411636167 | CACNA1I | c.5345G>C (p.Gly1782Ala) c.5240G>C (p.Gly1747Ala) c.3491G>C (p.Gly1164Ala) | |
22 | g.39679396G= | CA2405415115 | CACNA1I | c.5345G= (p.Gly1782=) c.5240G= (p.Gly1747=) c.3491G= (p.Gly1164=) | |
22 | g.39679396G>T | CA411636164 | CACNA1I | c.5345G>T (p.Gly1782Val) c.5240G>T (p.Gly1747Val) c.3491G>T (p.Gly1164Val) | |
22 | g.39679397G>A | CA514787244 | CACNA1I | c.5346G>A (p.Gly1782=) c.5241G>A (p.Gly1747=) c.3492G>A (p.Gly1164=) | dbSNP gnomAD v4 |
22 | g.39679397G>C | CA514787242 | CACNA1I | c.5346G>C (p.Gly1782=) c.5241G>C (p.Gly1747=) c.3492G>C (p.Gly1164=) | |
22 | g.39679397G= | CA2405415116 | CACNA1I | c.5346G= (p.Gly1782=) c.5241G= (p.Gly1747=) c.3492G= (p.Gly1164=) | |
22 | g.39679397G>T | CA514787243 | CACNA1I | c.5346G>T (p.Gly1782=) c.5241G>T (p.Gly1747=) c.3492G>T (p.Gly1164=) | gnomAD v4 |
22 | g.39679398G>A | CA411636177 | CACNA1I | c.5347G>A (p.Gly1783Ser) c.5242G>A (p.Gly1748Ser) c.3493G>A (p.Gly1165Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.39679398G>C | CA411636180 | CACNA1I | c.5347G>C (p.Gly1783Arg) c.5242G>C (p.Gly1748Arg) c.3493G>C (p.Gly1165Arg) | |
22 | g.39679398G= | CA2405415117 | CACNA1I | c.5347G= (p.Gly1783=) c.5242G= (p.Gly1748=) c.3493G= (p.Gly1165=) | |
22 | g.39679398G>T | CA411636192 | CACNA1I | c.5347G>T (p.Gly1783Cys) c.5242G>T (p.Gly1748Cys) c.3493G>T (p.Gly1165Cys) | dbSNP |
22 | g.39679398_39679399insTGGTCCTCCGGCCAGCCGGCCTCAGCA | CA2656827735 | CACNA1I | c.5347_5348insTGGTCCTCCGGCCAGCCGGCCTCAGCA (p.Gly1783delinsValValLeuArgProAlaGlyLeuSerSer) c.5242_5243insTGGTCCTCCGGCCAGCCGGCCTCAGCA (p.Gly1748delinsValValLeuArgProAlaGlyLeuSerSer) c.3493_3494insTGGTCCTCCGGCCAGCCGGCCTCAGCA (p.Gly1165delinsValValLeuArgProAlaGlyLeuSerSer) | gnomAD v4 |
22 | g.39679399G>A | CA411636197 | CACNA1I | c.5348G>A (p.Gly1783Asp) c.5243G>A (p.Gly1748Asp) c.3494G>A (p.Gly1165Asp) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.39679399G>C | CA411636200 | CACNA1I | c.5348G>C (p.Gly1783Ala) c.5243G>C (p.Gly1748Ala) c.3494G>C (p.Gly1165Ala) | |
22 | g.39679399G= | CA2405415118 | CACNA1I | c.5348G= (p.Gly1783=) c.5243G= (p.Gly1748=) c.3494G= (p.Gly1165=) | |
22 | g.39679399G>T | CA411636203 | CACNA1I | c.5348G>T (p.Gly1783Val) c.5243G>T (p.Gly1748Val) c.3494G>T (p.Gly1165Val) | gnomAD v4 |
22 | g.39679400C>A | CA514787246 | CACNA1I | c.5349C>A (p.Gly1783=) c.5244C>A (p.Gly1748=) c.3495C>A (p.Gly1165=) | dbSNP gnomAD v4 |
22 | g.39679400C= | CA2405415119 | CACNA1I | c.5349C= (p.Gly1783=) c.5244C= (p.Gly1748=) c.3495C= (p.Gly1165=) | |
22 | g.39679400C>G | CA514787245 | CACNA1I | c.5349C>G (p.Gly1783=) c.5244C>G (p.Gly1748=) c.3495C>G (p.Gly1165=) | gnomAD v4 |
22 | g.39679400C>T | CA324410672 | CACNA1I | c.5349C>T (p.Gly1783=) c.5244C>T (p.Gly1748=) c.3495C>T (p.Gly1165=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.39679401G>A | CA411636206 | CACNA1I | c.5350G>A (p.Asp1784Asn) c.5245G>A (p.Asp1749Asn) c.3496G>A (p.Asp1166Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.39679401G>C | CA411636210 | CACNA1I | c.5350G>C (p.Asp1784His) c.5245G>C (p.Asp1749His) c.3496G>C (p.Asp1166His) | gnomAD v4 |
22 | g.39679401G= | CA2405415120 | CACNA1I | c.5350G= (p.Asp1784=) c.5245G= (p.Asp1749=) c.3496G= (p.Asp1166=) | |
22 | g.39679401G>T | CA411636209 | CACNA1I | c.5350G>T (p.Asp1784Tyr) c.5245G>T (p.Asp1749Tyr) c.3496G>T (p.Asp1166Tyr) | |
22 | g.39679402A>C | CA411636212 | CACNA1I | c.5351A>C (p.Asp1784Ala) c.5246A>C (p.Asp1749Ala) c.3497A>C (p.Asp1166Ala) | |
22 | g.39679402A>G | CA411636214 | CACNA1I | c.5351A>G (p.Asp1784Gly) c.5246A>G (p.Asp1749Gly) c.3497A>G (p.Asp1166Gly) | |
22 | g.39679402A>T | CA411636217 | CACNA1I | c.5351A>T (p.Asp1784Val) c.5246A>T (p.Asp1749Val) c.3497A>T (p.Asp1166Val) | |
22 | g.39679403C>A | CA411636220 | CACNA1I | c.5352C>A (p.Asp1784Glu) c.5247C>A (p.Asp1749Glu) c.3498C>A (p.Asp1166Glu) | |
22 | g.39679403C= | CA2405415121 | CACNA1I | c.5352C= (p.Asp1784=) c.5247C= (p.Asp1749=) c.3498C= (p.Asp1166=) | |
22 | g.39679403C>G | CA411636222 | CACNA1I | c.5352C>G (p.Asp1784Glu) c.5247C>G (p.Asp1749Glu) c.3498C>G (p.Asp1166Glu) | COSMIC COSMIC COSMIC COSMIC |
22 | g.39679403C>T | CA514787247 | CACNA1I | c.5352C>T (p.Asp1784=) c.5247C>T (p.Asp1749=) c.3498C>T (p.Asp1166=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.39679404A>C | CA411636226 | CACNA1I | c.5353A>C (p.Thr1785Pro) c.5248A>C (p.Thr1750Pro) c.3499A>C (p.Thr1167Pro) | |
22 | g.39679404A>G | CA411636228 | CACNA1I | c.5353A>G (p.Thr1785Ala) c.5248A>G (p.Thr1750Ala) c.3499A>G (p.Thr1167Ala) | |
22 | g.39679404A>T | CA411636231 | CACNA1I | c.5353A>T (p.Thr1785Ser) c.5248A>T (p.Thr1750Ser) c.3499A>T (p.Thr1167Ser) | |
22 | g.39679405C>A | CA411636234 | CACNA1I | c.5354C>A (p.Thr1785Asn) c.5249C>A (p.Thr1750Asn) c.3500C>A (p.Thr1167Asn) | |
22 | g.39679405C= | CA2405415122 | CACNA1I | c.5354C= (p.Thr1785=) c.5249C= (p.Thr1750=) c.3500C= (p.Thr1167=) | |
22 | g.39679405C>G | CA411636235 | CACNA1I | c.5354C>G (p.Thr1785Ser) c.5249C>G (p.Thr1750Ser) c.3500C>G (p.Thr1167Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.39679405C>T | CA411636236 | CACNA1I | c.5354C>T (p.Thr1785Ile) c.5249C>T (p.Thr1750Ile) c.3500C>T (p.Thr1167Ile) | gnomAD v4 |
22 | g.39679406C>A | CA514787249 | CACNA1I | c.5355C>A (p.Thr1785=) c.5250C>A (p.Thr1750=) c.3501C>A (p.Thr1167=) | gnomAD v3 gnomAD v4 |
22 | g.39679406C= | CA2405415123 | CACNA1I | c.5355C= (p.Thr1785=) c.5250C= (p.Thr1750=) c.3501C= (p.Thr1167=) | |
22 | g.39679406C>G | CA514787248 | CACNA1I | c.5355C>G (p.Thr1785=) c.5250C>G (p.Thr1750=) c.3501C>G (p.Thr1167=) | dbSNP gnomAD v4 |
22 | g.39679406C>T | CA324410679 | CACNA1I | c.5355C>T (p.Thr1785=) c.5250C>T (p.Thr1750=) c.3501C>T (p.Thr1167=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.39679407G>A | CA411636244 | CACNA1I | c.5356G>A (p.Glu1786Lys) c.5251G>A (p.Glu1751Lys) c.3502G>A (p.Glu1168Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.39679407G>C | CA411636247 | CACNA1I | c.5356G>C (p.Glu1786Gln) c.5251G>C (p.Glu1751Gln) c.3502G>C (p.Glu1168Gln) | |
22 | g.39679407G= | CA2405415124 | CACNA1I | c.5356G= (p.Glu1786=) c.5251G= (p.Glu1751=) c.3502G= (p.Glu1168=) |