| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
| 6 | g.7582934_7587655del | CA2695202641 | |||
| 6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
| 6 | g.7585643T>A | CA362695039 | DSP | c.7052T>A (p.Val2351Glu) c.8381T>A (p.Val2794Glu) c.6584T>A (p.Val2195Glu) | |
| 6 | g.7585643T>C | CA362695040 | DSP | c.7052T>C (p.Val2351Ala) c.8381T>C (p.Val2794Ala) c.6584T>C (p.Val2195Ala) | |
| 6 | g.7585643T>G | CA362695041 | DSP | c.7052T>G (p.Val2351Gly) c.8381T>G (p.Val2794Gly) c.6584T>G (p.Val2195Gly) | |
| 6 | g.7585643_7585646dup | CA2695206020 | DSP | c.7052_7055dup (p.Glu2352AspfsTer?) c.8381_8384dup (p.Glu2795AspfsTer?) c.6584_6587dup (p.Glu2196AspfsTer?) | |
| 6 | g.7585644A= | CA1608615159 | DSP | c.7053A= (p.Val2351=) c.8382A= (p.Val2794=) c.6585A= (p.Val2195=) | |
| 6 | g.7585644A>C | CA448717137 | DSP | c.7053A>C (p.Val2351=) c.8382A>C (p.Val2794=) c.6585A>C (p.Val2195=) | |
| 6 | g.7585644A>G | CA133977889 | DSP | c.7053A>G (p.Val2351=) c.8382A>G (p.Val2794=) c.6585A>G (p.Val2195=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585644A>T | CA448717138 | DSP | c.7053A>T (p.Val2351=) c.8382A>T (p.Val2794=) c.6585A>T (p.Val2195=) | |
| 6 | g.7585645G>A | CA362695042 | DSP | c.7054G>A (p.Glu2352Lys) c.8383G>A (p.Glu2795Lys) c.6586G>A (p.Glu2196Lys) | |
| 6 | g.7585645G>C | CA362695043 | DSP | c.7054G>C (p.Glu2352Gln) c.8383G>C (p.Glu2795Gln) c.6586G>C (p.Glu2196Gln) | |
| 6 | g.7585645G>T | CA362695044 | DSP | c.7054G>T (p.Glu2352Ter) c.8383G>T (p.Glu2795Ter) c.6586G>T (p.Glu2196Ter) | |
| 6 | g.7585646A>C | CA362695047 | DSP | c.7055A>C (p.Glu2352Ala) c.8384A>C (p.Glu2795Ala) c.6587A>C (p.Glu2196Ala) | |
| 6 | g.7585646A>G | CA362695045 | DSP | c.7055A>G (p.Glu2352Gly) c.8384A>G (p.Glu2795Gly) c.6587A>G (p.Glu2196Gly) | |
| 6 | g.7585646A>T | CA362695046 | DSP | c.7055A>T (p.Glu2352Val) c.8384A>T (p.Glu2795Val) c.6587A>T (p.Glu2196Val) | |
| 6 | g.7585647A>C | CA362695048 | DSP | c.7056A>C (p.Glu2352Asp) c.8385A>C (p.Glu2795Asp) c.6588A>C (p.Glu2196Asp) | |
| 6 | g.7585647A>G | CA448717140 | DSP | c.7056A>G (p.Glu2352=) c.8385A>G (p.Glu2795=) c.6588A>G (p.Glu2196=) | |
| 6 | g.7585647A>T | CA362695049 | DSP | c.7056A>T (p.Glu2352Asp) c.8385A>T (p.Glu2795Asp) c.6588A>T (p.Glu2196Asp) | |
| 6 | g.7585648G>A | CA133977890 | DSP | c.7057G>A (p.Asp2353Asn) c.8386G>A (p.Asp2796Asn) c.6589G>A (p.Asp2197Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585648G>C | CA362695050 | DSP | c.7057G>C (p.Asp2353His) c.8386G>C (p.Asp2796His) c.6589G>C (p.Asp2197His) | ClinVar |
| 6 | g.7585648G= | CA1608615163 | DSP | c.7057G= (p.Asp2353=) c.8386G= (p.Asp2796=) c.6589G= (p.Asp2197=) | |
| 6 | g.7585648G>T | CA362695051 | DSP | c.7057G>T (p.Asp2353Tyr) c.8386G>T (p.Asp2796Tyr) c.6589G>T (p.Asp2197Tyr) | |
| 6 | g.7585649A= | CA1608615167 | DSP | c.7058A= (p.Asp2353=) c.8387A= (p.Asp2796=) c.6590A= (p.Asp2197=) | |
| 6 | g.7585649A>C | CA362695052 | DSP | c.7058A>C (p.Asp2353Ala) c.8387A>C (p.Asp2796Ala) c.6590A>C (p.Asp2197Ala) | |
| 6 | g.7585649A>G | CA362695053 | DSP | c.7058A>G (p.Asp2353Gly) c.8387A>G (p.Asp2796Gly) c.6590A>G (p.Asp2197Gly) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585649A>T | CA133977902 | DSP | c.7058A>T (p.Asp2353Val) c.8387A>T (p.Asp2796Val) c.6590A>T (p.Asp2197Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585650T>A | CA362695054 | DSP | c.7059T>A (p.Asp2353Glu) c.8388T>A (p.Asp2796Glu) c.6591T>A (p.Asp2197Glu) | |
| 6 | g.7585650T>C | CA448717142 | DSP | c.7059T>C (p.Asp2353=) c.8388T>C (p.Asp2796=) c.6591T>C (p.Asp2197=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585650T>G | CA362695055 | DSP | c.7059T>G (p.Asp2353Glu) c.8388T>G (p.Asp2796Glu) c.6591T>G (p.Asp2197Glu) | |
| 6 | g.7585650T= | CA1608615173 | DSP | c.7059T= (p.Asp2353=) c.8388T= (p.Asp2796=) c.6591T= (p.Asp2197=) | |
| 6 | g.7585651A= | CA1608615180 | DSP | c.7060A= (p.Ile2354=) c.8389A= (p.Ile2797=) c.6592A= (p.Ile2198=) | |
| 6 | g.7585651A>C | CA362695056 | DSP | c.7060A>C (p.Ile2354Leu) c.8389A>C (p.Ile2797Leu) c.6592A>C (p.Ile2198Leu) | |
| 6 | g.7585651A>G | CA133977905 | DSP | c.7060A>G (p.Ile2354Val) c.8389A>G (p.Ile2797Val) c.6592A>G (p.Ile2198Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585651A>T | CA362695057 | DSP | c.7060A>T (p.Ile2354Phe) c.8389A>T (p.Ile2797Phe) c.6592A>T (p.Ile2198Phe) | |
| 6 | g.7585652del | CA2740094268 | DSP | c.7061del (p.Ile2354ThrfsTer?) c.8390del (p.Ile2797ThrfsTer?) c.6593del (p.Ile2198ThrfsTer?) | ClinVar |
| 6 | g.7585652T>A | CA362695059 | DSP | c.7061T>A (p.Ile2354Asn) c.8390T>A (p.Ile2797Asn) c.6593T>A (p.Ile2198Asn) | dbSNP gnomAD v4 |
| 6 | g.7585652T>C | CA052174 | DSP | c.7061T>C (p.Ile2354Thr) c.8390T>C (p.Ile2797Thr) c.6593T>C (p.Ile2198Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585652T>G | CA362695058 | DSP | c.7061T>G (p.Ile2354Ser) c.8390T>G (p.Ile2797Ser) c.6593T>G (p.Ile2198Ser) | |
| 6 | g.7585652T= | CA1608615197 | DSP | c.7061T= (p.Ile2354=) c.8390T= (p.Ile2797=) c.6593T= (p.Ile2198=) | |
| 6 | g.7585653C>A | CA052184 | DSP | c.7062C>A (p.Ile2354=) c.8391C>A (p.Ile2797=) c.6594C>A (p.Ile2198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585653C= | CA1608615200 | DSP | c.7062C= (p.Ile2354=) c.8391C= (p.Ile2797=) c.6594C= (p.Ile2198=) | |
| 6 | g.7585653C>G | CA362695060 | DSP | c.7062C>G (p.Ile2354Met) c.8391C>G (p.Ile2797Met) c.6594C>G (p.Ile2198Met) | |
| 6 | g.7585653C>T | CA133977937 | DSP | c.7062C>T (p.Ile2354=) c.8391C>T (p.Ile2797=) c.6594C>T (p.Ile2198=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585654A= | CA1608615204 | DSP | c.7063A= (p.Thr2355=) c.8392A= (p.Thr2798=) c.6595A= (p.Thr2199=) | |
| 6 | g.7585654A>C | CA362695061 | DSP | c.7063A>C (p.Thr2355Pro) c.8392A>C (p.Thr2798Pro) c.6595A>C (p.Thr2199Pro) | |
| 6 | g.7585654A>G | CA052200 | DSP | c.7063A>G (p.Thr2355Ala) c.8392A>G (p.Thr2798Ala) c.6595A>G (p.Thr2199Ala) | dbSNP ExAC gnomAD v2 |
| 6 | g.7585654A>T | CA133977951 | DSP | c.7063A>T (p.Thr2355Ser) c.8392A>T (p.Thr2798Ser) c.6595A>T (p.Thr2199Ser) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585655C>A | CA362695062 | DSP | c.7064C>A (p.Thr2355Asn) c.8393C>A (p.Thr2798Asn) c.6596C>A (p.Thr2199Asn) | |
| 6 | g.7585655C>G | CA362695063 | DSP | c.7064C>G (p.Thr2355Ser) c.8393C>G (p.Thr2798Ser) c.6596C>G (p.Thr2199Ser) | |
| 6 | g.7585655C>T | CA362695064 | DSP | c.7064C>T (p.Thr2355Ile) c.8393C>T (p.Thr2798Ile) c.6596C>T (p.Thr2199Ile) | |
| 6 | g.7585656T>A | CA052210 | DSP | c.7065T>A (p.Thr2355=) c.8394T>A (p.Thr2798=) c.6597T>A (p.Thr2199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585656T>C | CA448717145 | DSP | c.7065T>C (p.Thr2355=) c.8394T>C (p.Thr2798=) c.6597T>C (p.Thr2199=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585656T>G | CA448717144 | DSP | c.7065T>G (p.Thr2355=) c.8394T>G (p.Thr2798=) c.6597T>G (p.Thr2199=) | |
| 6 | g.7585656T= | CA1608615210 | DSP | c.7065T= (p.Thr2355=) c.8394T= (p.Thr2798=) c.6597T= (p.Thr2199=) | |
| 6 | g.7585657G>A | CA362695065 | DSP | c.7066G>A (p.Gly2356Arg) c.8395G>A (p.Gly2799Arg) c.6598G>A (p.Gly2200Arg) | |
| 6 | g.7585657G>C | CA362695066 | DSP | c.7066G>C (p.Gly2356Arg) c.8395G>C (p.Gly2799Arg) c.6598G>C (p.Gly2200Arg) | |
| 6 | g.7585657G>T | CA362695067 | DSP | c.7066G>T (p.Gly2356Trp) c.8395G>T (p.Gly2799Trp) c.6598G>T (p.Gly2200Trp) | gnomAD v4 |
| 6 | g.7585658G>A | CA362695068 | DSP | c.7067G>A (p.Gly2356Glu) c.8396G>A (p.Gly2799Glu) c.6599G>A (p.Gly2200Glu) | |
| 6 | g.7585658G>C | CA362695070 | DSP | c.7067G>C (p.Gly2356Ala) c.8396G>C (p.Gly2799Ala) c.6599G>C (p.Gly2200Ala) | ClinVar |
| 6 | g.7585658G>T | CA362695069 | DSP | c.7067G>T (p.Gly2356Val) c.8396G>T (p.Gly2799Val) c.6599G>T (p.Gly2200Val) | |
| 6 | g.7585659G>A | CA448717146 | DSP | c.7068G>A (p.Gly2356=) c.8397G>A (p.Gly2799=) c.6600G>A (p.Gly2200=) | |
| 6 | g.7585659G>C | CA448717147 | DSP | c.7068G>C (p.Gly2356=) c.8397G>C (p.Gly2799=) c.6600G>C (p.Gly2200=) | |
| 6 | g.7585659G>T | CA448717148 | DSP | c.7068G>T (p.Gly2356=) c.8397G>T (p.Gly2799=) c.6600G>T (p.Gly2200=) | |
| 6 | g.7585660C>A | CA362695071 | DSP | c.7069C>A (p.Leu2357Met) c.8398C>A (p.Leu2800Met) c.6601C>A (p.Leu2201Met) | |
| 6 | g.7585660C>G | CA362695072 | DSP | c.7069C>G (p.Leu2357Val) c.8398C>G (p.Leu2800Val) c.6601C>G (p.Leu2201Val) | |
| 6 | g.7585660C>T | CA448717149 | DSP | c.7069C>T (p.Leu2357=) c.8398C>T (p.Leu2800=) c.6601C>T (p.Leu2201=) | |
| 6 | g.7585661T>A | CA362695073 | DSP | c.7070T>A (p.Leu2357Gln) c.8399T>A (p.Leu2800Gln) c.6602T>A (p.Leu2201Gln) | |
| 6 | g.7585661T>C | CA362695074 | DSP | c.7070T>C (p.Leu2357Pro) c.8399T>C (p.Leu2800Pro) c.6602T>C (p.Leu2201Pro) | |
| 6 | g.7585661T>G | CA362695075 | DSP | c.7070T>G (p.Leu2357Arg) c.8399T>G (p.Leu2800Arg) c.6602T>G (p.Leu2201Arg) | |
| 6 | g.7585662G>A | CA448717150 | DSP | c.7071G>A (p.Leu2357=) c.8400G>A (p.Leu2800=) c.6603G>A (p.Leu2201=) | |
| 6 | g.7585662G>C | CA448717151 | DSP | c.7071G>C (p.Leu2357=) c.8400G>C (p.Leu2800=) c.6603G>C (p.Leu2201=) | |
| 6 | g.7585662G>T | CA448717152 | DSP | c.7071G>T (p.Leu2357=) c.8400G>T (p.Leu2800=) c.6603G>T (p.Leu2201=) | |
| 6 | g.7585663C>A | CA362695076 | DSP | c.7072C>A (p.Arg2358Ser) c.8401C>A (p.Arg2801Ser) c.6604C>A (p.Arg2202Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585663C= | CA1608615216 | DSP | c.7072C= (p.Arg2358=) c.8401C= (p.Arg2801=) c.6604C= (p.Arg2202=) | |
| 6 | g.7585663C>G | CA052220 | DSP | c.7072C>G (p.Arg2358Gly) c.8401C>G (p.Arg2801Gly) c.6604C>G (p.Arg2202Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585663C>T | CA362695077 | DSP | c.7072C>T (p.Arg2358Cys) c.8401C>T (p.Arg2801Cys) c.6604C>T (p.Arg2202Cys) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585664G>A | CA052230 | DSP | c.7073G>A (p.Arg2358His) c.8402G>A (p.Arg2801His) c.6605G>A (p.Arg2202His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585664G>C | CA362695078 | DSP | c.7073G>C (p.Arg2358Pro) c.8402G>C (p.Arg2801Pro) c.6605G>C (p.Arg2202Pro) | |
| 6 | g.7585664G= | CA1608615225 | DSP | c.7073G= (p.Arg2358=) c.8402G= (p.Arg2801=) c.6605G= (p.Arg2202=) | |
| 6 | g.7585664G>T | CA362695079 | DSP | c.7073G>T (p.Arg2358Leu) c.8402G>T (p.Arg2801Leu) c.6605G>T (p.Arg2202Leu) | gnomAD v4 |
| 6 | g.7585665C>A | CA448717156 | DSP | c.7074C>A (p.Arg2358=) c.8403C>A (p.Arg2801=) c.6606C>A (p.Arg2202=) | |
| 6 | g.7585665C>G | CA448717157 | DSP | c.7074C>G (p.Arg2358=) c.8403C>G (p.Arg2801=) c.6606C>G (p.Arg2202=) | ClinVar |
| 6 | g.7585665C>T | CA448717158 | DSP | c.7074C>T (p.Arg2358=) c.8403C>T (p.Arg2801=) c.6606C>T (p.Arg2202=) | |
| 6 | g.7585666C>A | CA133977960 | DSP | c.7075C>A (p.Leu2359Ile) c.8404C>A (p.Leu2802Ile) c.6607C>A (p.Leu2203Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585666C= | CA1608615234 | DSP | c.7075C= (p.Leu2359=) c.8404C= (p.Leu2802=) c.6607C= (p.Leu2203=) | |
| 6 | g.7585666C>G | CA362695080 | DSP | c.7075C>G (p.Leu2359Val) c.8404C>G (p.Leu2802Val) c.6607C>G (p.Leu2203Val) | |
| 6 | g.7585666C>T | CA052241 | DSP | c.7075C>T (p.Leu2359Phe) c.8404C>T (p.Leu2802Phe) c.6607C>T (p.Leu2203Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585667T>A | CA362695083 | DSP | c.7076T>A (p.Leu2359His) c.8405T>A (p.Leu2802His) c.6608T>A (p.Leu2203His) | |
| 6 | g.7585667T>C | CA362695082 | DSP | c.7076T>C (p.Leu2359Pro) c.8405T>C (p.Leu2802Pro) c.6608T>C (p.Leu2203Pro) | |
| 6 | g.7585667T>G | CA362695081 | DSP | c.7076T>G (p.Leu2359Arg) c.8405T>G (p.Leu2802Arg) c.6608T>G (p.Leu2203Arg) | |
| 6 | g.7585668T>A | CA448717159 | DSP | c.7077T>A (p.Leu2359=) c.8406T>A (p.Leu2802=) c.6609T>A (p.Leu2203=) | |
| 6 | g.7585668T>C | CA448717160 | DSP | c.7077T>C (p.Leu2359=) c.8406T>C (p.Leu2802=) c.6609T>C (p.Leu2203=) | |
| 6 | g.7585668T>G | CA448717161 | DSP | c.7077T>G (p.Leu2359=) c.8406T>G (p.Leu2802=) c.6609T>G (p.Leu2203=) | |
| 6 | g.7585669C>A | CA362695084 | DSP | c.7078C>A (p.Leu2360Met) c.8407C>A (p.Leu2803Met) c.6610C>A (p.Leu2204Met) | |
| 6 | g.7585669C>G | CA362695085 | DSP | c.7078C>G (p.Leu2360Val) c.8407C>G (p.Leu2803Val) c.6610C>G (p.Leu2204Val) | |
| 6 | g.7585669C>T | CA448717163 | DSP | c.7078C>T (p.Leu2360=) c.8407C>T (p.Leu2803=) c.6610C>T (p.Leu2204=) | |
| 6 | g.7585670T>A | CA362695086 | DSP | c.7079T>A (p.Leu2360Gln) c.8408T>A (p.Leu2803Gln) c.6611T>A (p.Leu2204Gln) | dbSNP |
| 6 | g.7585670T>C | CA362695087 | DSP | c.7079T>C (p.Leu2360Pro) c.8408T>C (p.Leu2803Pro) c.6611T>C (p.Leu2204Pro) | dbSNP |
| 6 | g.7585670T>G | CA362695088 | DSP | c.7079T>G (p.Leu2360Arg) c.8408T>G (p.Leu2803Arg) c.6611T>G (p.Leu2204Arg) | |
| 6 | g.7585671G>A | CA448717167 | DSP | c.7080G>A (p.Leu2360=) c.8409G>A (p.Leu2803=) c.6612G>A (p.Leu2204=) | |
| 6 | g.7585671G>C | CA448717166 | DSP | c.7080G>C (p.Leu2360=) c.8409G>C (p.Leu2803=) c.6612G>C (p.Leu2204=) | |
| 6 | g.7585671G>T | CA448717165 | DSP | c.7080G>T (p.Leu2360=) c.8409G>T (p.Leu2803=) c.6612G>T (p.Leu2204=) | |
| 6 | g.7585672G>A | CA362695089 | DSP | c.7081G>A (p.Glu2361Lys) c.8410G>A (p.Glu2804Lys) c.6613G>A (p.Glu2205Lys) | |
| 6 | g.7585672G>C | CA362695090 | DSP | c.7081G>C (p.Glu2361Gln) c.8410G>C (p.Glu2804Gln) c.6613G>C (p.Glu2205Gln) | |
| 6 | g.7585672G>T | CA362695091 | DSP | c.7081G>T (p.Glu2361Ter) c.8410G>T (p.Glu2804Ter) c.6613G>T (p.Glu2205Ter) | |
| 6 | g.7585673A= | CA1608615239 | DSP | c.7082A= (p.Glu2361=) c.8411A= (p.Glu2804=) c.6614A= (p.Glu2205=) | |
| 6 | g.7585673A>C | CA362695092 | DSP | c.7082A>C (p.Glu2361Ala) c.8411A>C (p.Glu2804Ala) c.6614A>C (p.Glu2205Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585673A>G | CA362695093 | DSP | c.7082A>G (p.Glu2361Gly) c.8411A>G (p.Glu2804Gly) c.6614A>G (p.Glu2205Gly) | |
| 6 | g.7585673A>T | CA362695094 | DSP | c.7082A>T (p.Glu2361Val) c.8411A>T (p.Glu2804Val) c.6614A>T (p.Glu2205Val) | |
| 6 | g.7585674A>C | CA362695095 | DSP | c.7083A>C (p.Glu2361Asp) c.8412A>C (p.Glu2804Asp) c.6615A>C (p.Glu2205Asp) | |
| 6 | g.7585674A>G | CA448717168 | DSP | c.7083A>G (p.Glu2361=) c.8412A>G (p.Glu2804=) c.6615A>G (p.Glu2205=) | |
| 6 | g.7585674A>T | CA362695096 | DSP | c.7083A>T (p.Glu2361Asp) c.8412A>T (p.Glu2804Asp) c.6615A>T (p.Glu2205Asp) | |
| 6 | g.7585675G>A | CA362695098 | DSP | c.7084G>A (p.Ala2362Thr) c.8413G>A (p.Ala2805Thr) c.6616G>A (p.Ala2206Thr) | gnomAD v4 |
| 6 | g.7585675G>C | CA362695099 | DSP | c.7084G>C (p.Ala2362Pro) c.8413G>C (p.Ala2805Pro) c.6616G>C (p.Ala2206Pro) | |
| 6 | g.7585675G>T | CA362695097 | DSP | c.7084G>T (p.Ala2362Ser) c.8413G>T (p.Ala2805Ser) c.6616G>T (p.Ala2206Ser) | |
| 6 | g.7585676C>A | CA362695100 | DSP | c.7085C>A (p.Ala2362Asp) c.8414C>A (p.Ala2805Asp) c.6617C>A (p.Ala2206Asp) | |
| 6 | g.7585676C= | CA1608615244 | DSP | c.7085C= (p.Ala2362=) c.8414C= (p.Ala2805=) c.6617C= (p.Ala2206=) | |
| 6 | g.7585676C>G | CA362695101 | DSP | c.7085C>G (p.Ala2362Gly) c.8414C>G (p.Ala2805Gly) c.6617C>G (p.Ala2206Gly) | ClinVar gnomAD v4 |
| 6 | g.7585676C>T | CA052251 | DSP | c.7085C>T (p.Ala2362Val) c.8414C>T (p.Ala2805Val) c.6617C>T (p.Ala2206Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585677C>A | CA448717170 | DSP | c.7086C>A (p.Ala2362=) c.8415C>A (p.Ala2805=) c.6618C>A (p.Ala2206=) | |
| 6 | g.7585677C= | CA1608615252 | DSP | c.7086C= (p.Ala2362=) c.8415C= (p.Ala2805=) c.6618C= (p.Ala2206=) | |
| 6 | g.7585677C>G | CA448717171 | DSP | c.7086C>G (p.Ala2362=) c.8415C>G (p.Ala2805=) c.6618C>G (p.Ala2206=) | |
| 6 | g.7585677C>T | CA007523 | DSP | c.7086C>T (p.Ala2362=) c.8415C>T (p.Ala2805=) c.6618C>T (p.Ala2206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585678G>A | CA133977982 | DSP | c.7087G>A (p.Ala2363Thr) c.8416G>A (p.Ala2806Thr) c.6619G>A (p.Ala2207Thr) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585678G>C | CA362695102 | DSP | c.7087G>C (p.Ala2363Pro) c.8416G>C (p.Ala2806Pro) c.6619G>C (p.Ala2207Pro) | gnomAD v4 |
| 6 | g.7585678G= | CA1608615260 | DSP | c.7087G= (p.Ala2363=) c.8416G= (p.Ala2806=) c.6619G= (p.Ala2207=) | |
| 6 | g.7585678G>T | CA362695103 | DSP | c.7087G>T (p.Ala2363Ser) c.8416G>T (p.Ala2806Ser) c.6619G>T (p.Ala2207Ser) | |
| 6 | g.7585679C>A | CA362695104 | DSP | c.7088C>A (p.Ala2363Asp) c.8417C>A (p.Ala2806Asp) c.6620C>A (p.Ala2207Asp) | |
| 6 | g.7585679C>G | CA362695105 | DSP | c.7088C>G (p.Ala2363Gly) c.8417C>G (p.Ala2806Gly) c.6620C>G (p.Ala2207Gly) | |
| 6 | g.7585679C>T | CA362695106 | DSP | c.7088C>T (p.Ala2363Val) c.8417C>T (p.Ala2806Val) c.6620C>T (p.Ala2207Val) | ClinVar |
| 6 | g.7585680C>A | CA448717173 | DSP | c.7089C>A (p.Ala2363=) c.8418C>A (p.Ala2806=) c.6621C>A (p.Ala2207=) | ClinVar dbSNP |
| 6 | g.7585680C= | CA1608615270 | DSP | c.7089C= (p.Ala2363=) c.8418C= (p.Ala2806=) c.6621C= (p.Ala2207=) | |
| 6 | g.7585680C>G | CA448717174 | DSP | c.7089C>G (p.Ala2363=) c.8418C>G (p.Ala2806=) c.6621C>G (p.Ala2207=) | |
| 6 | g.7585680C>T | CA448717175 | DSP | c.7089C>T (p.Ala2363=) c.8418C>T (p.Ala2806=) c.6621C>T (p.Ala2207=) | |
| 6 | g.7585681T>A | CA362695107 | DSP | c.7090T>A (p.Ser2364Thr) c.8419T>A (p.Ser2807Thr) c.6622T>A (p.Ser2208Thr) | |
| 6 | g.7585681T>C | CA362695108 | DSP | c.7090T>C (p.Ser2364Pro) c.8419T>C (p.Ser2807Pro) c.6622T>C (p.Ser2208Pro) | ClinVar |
| 6 | g.7585681T>G | CA362695109 | DSP | c.7090T>G (p.Ser2364Ala) c.8419T>G (p.Ser2807Ala) c.6622T>G (p.Ser2208Ala) | |
| 6 | g.7585682C>A | CA362695110 | DSP | c.7091C>A (p.Ser2364Tyr) c.8420C>A (p.Ser2807Tyr) c.6623C>A (p.Ser2208Tyr) | |
| 6 | g.7585682C>G | CA362695112 | DSP | c.7091C>G (p.Ser2364Cys) c.8420C>G (p.Ser2807Cys) c.6623C>G (p.Ser2208Cys) | |
| 6 | g.7585682C>T | CA362695111 | DSP | c.7091C>T (p.Ser2364Phe) c.8420C>T (p.Ser2807Phe) c.6623C>T (p.Ser2208Phe) | |
| 6 | g.7585683C>A | CA448717176 | DSP | c.7092C>A (p.Ser2364=) c.8421C>A (p.Ser2807=) c.6624C>A (p.Ser2208=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585683C= | CA1608615279 | DSP | c.7092C= (p.Ser2364=) c.8421C= (p.Ser2807=) c.6624C= (p.Ser2208=) | |
| 6 | g.7585683C>G | CA448717177 | DSP | c.7092C>G (p.Ser2364=) c.8421C>G (p.Ser2807=) c.6624C>G (p.Ser2208=) | |
| 6 | g.7585683C>T | CA052285 | DSP | c.7092C>T (p.Ser2364=) c.8421C>T (p.Ser2807=) c.6624C>T (p.Ser2208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585684G>A | CA052294 | DSP | c.7093G>A (p.Val2365Met) c.8422G>A (p.Val2808Met) c.6625G>A (p.Val2209Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585684G>C | CA362695113 | DSP | c.7093G>C (p.Val2365Leu) c.8422G>C (p.Val2808Leu) c.6625G>C (p.Val2209Leu) | gnomAD v4 |
| 6 | g.7585684G= | CA1608615283 | DSP | c.7093G= (p.Val2365=) c.8422G= (p.Val2808=) c.6625G= (p.Val2209=) | |
| 6 | g.7585684G>T | CA362695114 | DSP | c.7093G>T (p.Val2365Leu) c.8422G>T (p.Val2808Leu) c.6625G>T (p.Val2209Leu) | |
| 6 | g.7585685T>A | CA362695115 | DSP | c.7094T>A (p.Val2365Glu) c.8423T>A (p.Val2808Glu) c.6626T>A (p.Val2209Glu) | |
| 6 | g.7585685T>C | CA362695116 | DSP | c.7094T>C (p.Val2365Ala) c.8423T>C (p.Val2808Ala) c.6626T>C (p.Val2209Ala) | |
| 6 | g.7585685T>G | CA362695117 | DSP | c.7094T>G (p.Val2365Gly) c.8423T>G (p.Val2808Gly) c.6626T>G (p.Val2209Gly) | |
| 6 | g.7585686G>A | CA448717181 | DSP | c.7095G>A (p.Val2365=) c.8424G>A (p.Val2808=) c.6627G>A (p.Val2209=) | |
| 6 | g.7585686G>C | CA448717183 | DSP | c.7095G>C (p.Val2365=) c.8424G>C (p.Val2808=) c.6627G>C (p.Val2209=) | |
| 6 | g.7585686G>T | CA448717182 | DSP | c.7095G>T (p.Val2365=) c.8424G>T (p.Val2808=) c.6627G>T (p.Val2209=) | |
| 6 | g.7585687T>A | CA362695118 | DSP | c.7096T>A (p.Ser2366Thr) c.8425T>A (p.Ser2809Thr) c.6628T>A (p.Ser2210Thr) | |
| 6 | g.7585687T>C | CA362695119 | DSP | c.7096T>C (p.Ser2366Pro) c.8425T>C (p.Ser2809Pro) c.6628T>C (p.Ser2210Pro) | |
| 6 | g.7585687T>G | CA362695120 | DSP | c.7096T>G (p.Ser2366Ala) c.8425T>G (p.Ser2809Ala) c.6628T>G (p.Ser2210Ala) | |
| 6 | g.7585688C>A | CA362695122 | DSP | c.7097C>A (p.Ser2366Ter) c.8426C>A (p.Ser2809Ter) c.6629C>A (p.Ser2210Ter) | |
| 6 | g.7585688C= | CA1608615293 | DSP | c.7097C= (p.Ser2366=) c.8426C= (p.Ser2809=) c.6629C= (p.Ser2210=) | |
| 6 | g.7585688C>G | CA362695123 | DSP | c.7097C>G (p.Ser2366Trp) c.8426C>G (p.Ser2809Trp) c.6629C>G (p.Ser2210Trp) | gnomAD v4 |
| 6 | g.7585688C>T | CA362695121 | DSP | c.7097C>T (p.Ser2366Leu) c.8426C>T (p.Ser2809Leu) c.6629C>T (p.Ser2210Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585689G>A | CA448717184 | DSP | c.7098G>A (p.Ser2366=) c.8427G>A (p.Ser2809=) c.6630G>A (p.Ser2210=) | dbSNP gnomAD v2 |
| 6 | g.7585689G>C | CA448717185 | DSP | c.7098G>C (p.Ser2366=) c.8427G>C (p.Ser2809=) c.6630G>C (p.Ser2210=) | |
| 6 | g.7585689G= | CA1608615295 | DSP | c.7098G= (p.Ser2366=) c.8427G= (p.Ser2809=) c.6630G= (p.Ser2210=) | |
| 6 | g.7585689G>T | CA448717186 | DSP | c.7098G>T (p.Ser2366=) c.8427G>T (p.Ser2809=) c.6630G>T (p.Ser2210=) | dbSNP |
| 6 | g.7585690T>A | CA362695126 | DSP | c.7099T>A (p.Ser2367Thr) c.8428T>A (p.Ser2810Thr) c.6631T>A (p.Ser2211Thr) | |
| 6 | g.7585690T>C | CA362695124 | DSP | c.7099T>C (p.Ser2367Pro) c.8428T>C (p.Ser2810Pro) c.6631T>C (p.Ser2211Pro) | gnomAD v4 |
| 6 | g.7585690T>G | CA362695125 | DSP | c.7099T>G (p.Ser2367Ala) c.8428T>G (p.Ser2810Ala) c.6631T>G (p.Ser2211Ala) | |
| 6 | g.7585691C>A | CA362695127 | DSP | c.7100C>A (p.Ser2367Tyr) c.8429C>A (p.Ser2810Tyr) c.6632C>A (p.Ser2211Tyr) | |
| 6 | g.7585691C= | CA1608615300 | DSP | c.7100C= (p.Ser2367=) c.8429C= (p.Ser2810=) c.6632C= (p.Ser2211=) | |
| 6 | g.7585691C>G | CA362695128 | DSP | c.7100C>G (p.Ser2367Cys) c.8429C>G (p.Ser2810Cys) c.6632C>G (p.Ser2211Cys) | |
| 6 | g.7585691C>T | CA362695129 | DSP | c.7100C>T (p.Ser2367Phe) c.8429C>T (p.Ser2810Phe) c.6632C>T (p.Ser2211Phe) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585692C>A | CA448717190 | DSP | c.7101C>A (p.Ser2367=) c.8430C>A (p.Ser2810=) c.6633C>A (p.Ser2211=) | ClinVar dbSNP |
| 6 | g.7585692C= | CA1608615308 | DSP | c.7101C= (p.Ser2367=) c.8430C= (p.Ser2810=) c.6633C= (p.Ser2211=) | |
| 6 | g.7585692C>G | CA448717191 | DSP | c.7101C>G (p.Ser2367=) c.8430C>G (p.Ser2810=) c.6633C>G (p.Ser2211=) | |
| 6 | g.7585692C>T | CA448717192 | DSP | c.7101C>T (p.Ser2367=) c.8430C>T (p.Ser2810=) c.6633C>T (p.Ser2211=) | ClinVar dbSNP |
| 6 | g.7585693A= | CA1608615311 | DSP | c.7102A= (p.Lys2368=) c.8431A= (p.Lys2811=) c.6634A= (p.Lys2212=) | |
| 6 | g.7585693A>C | CA362695131 | DSP | c.7102A>C (p.Lys2368Gln) c.8431A>C (p.Lys2811Gln) c.6634A>C (p.Lys2212Gln) | |
| 6 | g.7585693A>G | CA052305 | DSP | c.7102A>G (p.Lys2368Glu) c.8431A>G (p.Lys2811Glu) c.6634A>G (p.Lys2212Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585693A>T | CA362695130 | DSP | c.7102A>T (p.Lys2368Ter) c.8431A>T (p.Lys2811Ter) c.6634A>T (p.Lys2212Ter) | |
| 6 | g.7585694A>C | CA362695132 | DSP | c.7103A>C (p.Lys2368Thr) c.8432A>C (p.Lys2811Thr) c.6635A>C (p.Lys2212Thr) | ClinVar |
| 6 | g.7585694A>G | CA362695133 | DSP | c.7103A>G (p.Lys2368Arg) c.8432A>G (p.Lys2811Arg) c.6635A>G (p.Lys2212Arg) | |
| 6 | g.7585694A>T | CA362695134 | DSP | c.7103A>T (p.Lys2368Met) c.8432A>T (p.Lys2811Met) c.6635A>T (p.Lys2212Met) | |
| 6 | g.7585695G>A | CA052317 | DSP | c.7104G>A (p.Lys2368=) c.8433G>A (p.Lys2811=) c.6636G>A (p.Lys2212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585695G>C | CA362695135 | DSP | c.7104G>C (p.Lys2368Asn) c.8433G>C (p.Lys2811Asn) c.6636G>C (p.Lys2212Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585695G= | CA1608615326 | DSP | c.7104G= (p.Lys2368=) c.8433G= (p.Lys2811=) c.6636G= (p.Lys2212=) | |
| 6 | g.7585695G>T | CA362695136 | DSP | c.7104G>T (p.Lys2368Asn) c.8433G>T (p.Lys2811Asn) c.6636G>T (p.Lys2212Asn) | |
| 6 | g.7585696G>A | CA362695137 | DSP | c.7105G>A (p.Gly2369Ser) c.8434G>A (p.Gly2812Ser) c.6637G>A (p.Gly2213Ser) | ClinVar |
| 6 | g.7585696G>C | CA362695139 | DSP | c.7105G>C (p.Gly2369Arg) c.8434G>C (p.Gly2812Arg) c.6637G>C (p.Gly2213Arg) | |
| 6 | g.7585696G>T | CA362695138 | DSP | c.7105G>T (p.Gly2369Cys) c.8434G>T (p.Gly2812Cys) c.6637G>T (p.Gly2213Cys) | |
| 6 | g.7585697G>A | CA362695140 | DSP | c.7106G>A (p.Gly2369Asp) c.8435G>A (p.Gly2812Asp) c.6638G>A (p.Gly2213Asp) | |
| 6 | g.7585697G>C | CA362695141 | DSP | c.7106G>C (p.Gly2369Ala) c.8435G>C (p.Gly2812Ala) c.6638G>C (p.Gly2213Ala) | |
| 6 | g.7585697G>T | CA362695142 | DSP | c.7106G>T (p.Gly2369Val) c.8435G>T (p.Gly2812Val) c.6638G>T (p.Gly2213Val) | |
| 6 | g.7585698C>A | CA448717194 | DSP | c.7107C>A (p.Gly2369=) c.8436C>A (p.Gly2812=) c.6639C>A (p.Gly2213=) | |
| 6 | g.7585698C= | CA1608615334 | DSP | c.7107C= (p.Gly2369=) c.8436C= (p.Gly2812=) c.6639C= (p.Gly2213=) | |
| 6 | g.7585698C>G | CA448717195 | DSP | c.7107C>G (p.Gly2369=) c.8436C>G (p.Gly2812=) c.6639C>G (p.Gly2213=) | |
| 6 | g.7585698C>T | CA448717196 | DSP | c.7107C>T (p.Gly2369=) c.8436C>T (p.Gly2812=) c.6639C>T (p.Gly2213=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585699T>A | CA362695143 | DSP | c.7108T>A (p.Leu2370Ile) c.8437T>A (p.Leu2813Ile) c.6640T>A (p.Leu2214Ile) | |
| 6 | g.7585699T>C | CA448717197 | DSP | c.7108T>C (p.Leu2370=) c.8437T>C (p.Leu2813=) c.6640T>C (p.Leu2214=) | |
| 6 | g.7585699T>G | CA362695144 | DSP | c.7108T>G (p.Leu2370Val) c.8437T>G (p.Leu2813Val) c.6640T>G (p.Leu2214Val) | |
| 6 | g.7585700T>A | CA362695145 | DSP | c.7109T>A (p.Leu2370Ter) c.8438T>A (p.Leu2813Ter) c.6641T>A (p.Leu2214Ter) | |
| 6 | g.7585700T>C | CA362695146 | DSP | c.7109T>C (p.Leu2370Ser) c.8438T>C (p.Leu2813Ser) c.6641T>C (p.Leu2214Ser) | ClinVar |
| 6 | g.7585700T>G | CA362695147 | DSP | c.7109T>G (p.Leu2370Ter) c.8438T>G (p.Leu2813Ter) c.6641T>G (p.Leu2214Ter) | |
| 6 | g.7585701A= | CA1608615337 | DSP | c.7110A= (p.Leu2370=) c.8439A= (p.Leu2813=) c.6642A= (p.Leu2214=) | |
| 6 | g.7585701A>C | CA362695148 | DSP | c.7110A>C (p.Leu2370Phe) c.8439A>C (p.Leu2813Phe) c.6642A>C (p.Leu2214Phe) | |
| 6 | g.7585701A>G | CA448717198 | DSP | c.7110A>G (p.Leu2370=) c.8439A>G (p.Leu2813=) c.6642A>G (p.Leu2214=) | |
| 6 | g.7585701A>T | CA362695149 | DSP | c.7110A>T (p.Leu2370Phe) c.8439A>T (p.Leu2813Phe) c.6642A>T (p.Leu2214Phe) | |
| 6 | g.7585702C>A | CA362695152 | DSP | c.7111C>A (p.Pro2371Thr) c.8440C>A (p.Pro2814Thr) c.6643C>A (p.Pro2215Thr) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585702C= | CA1608615347 | DSP | c.7111C= (p.Pro2371=) c.8440C= (p.Pro2814=) c.6643C= (p.Pro2215=) | |
| 6 | g.7585702C>G | CA362695151 | DSP | c.7111C>G (p.Pro2371Ala) c.8440C>G (p.Pro2814Ala) c.6643C>G (p.Pro2215Ala) | |
| 6 | g.7585702C>T | CA362695150 | DSP | c.7111C>T (p.Pro2371Ser) c.8440C>T (p.Pro2814Ser) c.6643C>T (p.Pro2215Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585704dup | CA16618329 | DSP | c.7113dup (p.Ser2372GlnfsTer?) c.8442dup (p.Ser2815GlnfsTer?) c.6645dup (p.Ser2216GlnfsTer?) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585703C>A | CA362695153 | DSP | c.7112C>A (p.Pro2371His) c.8441C>A (p.Pro2814His) c.6644C>A (p.Pro2215His) | |
| 6 | g.7585703C= | CA1608615357 | DSP | c.7112C= (p.Pro2371=) c.8441C= (p.Pro2814=) c.6644C= (p.Pro2215=) | |
| 6 | g.7585703C>G | CA052332 | DSP | c.7112C>G (p.Pro2371Arg) c.8441C>G (p.Pro2814Arg) c.6644C>G (p.Pro2215Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585703C>T | CA362695154 | DSP | c.7112C>T (p.Pro2371Leu) c.8441C>T (p.Pro2814Leu) c.6644C>T (p.Pro2215Leu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585704C>A | CA448717200 | DSP | c.7113C>A (p.Pro2371=) c.8442C>A (p.Pro2814=) c.6645C>A (p.Pro2215=) | ClinVar dbSNP |
| 6 | g.7585704C= | CA1608615367 | DSP | c.7113C= (p.Pro2371=) c.8442C= (p.Pro2814=) c.6645C= (p.Pro2215=) | |
| 6 | g.7585704C>G | CA448717201 | DSP | c.7113C>G (p.Pro2371=) c.8442C>G (p.Pro2814=) c.6645C>G (p.Pro2215=) | |
| 6 | g.7585704C>T | CA448717202 | DSP | c.7113C>T (p.Pro2371=) c.8442C>T (p.Pro2814=) c.6645C>T (p.Pro2215=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585705A>C | CA362695155 | DSP | c.7114A>C (p.Ser2372Arg) c.8443A>C (p.Ser2815Arg) c.6646A>C (p.Ser2216Arg) | |
| 6 | g.7585705A>G | CA362695156 | DSP | c.7114A>G (p.Ser2372Gly) c.8443A>G (p.Ser2815Gly) c.6646A>G (p.Ser2216Gly) | |
| 6 | g.7585705A>T | CA362695157 | DSP | c.7114A>T (p.Ser2372Cys) c.8443A>T (p.Ser2815Cys) c.6646A>T (p.Ser2216Cys) | |
| 6 | g.7585706G>A | CA362695160 | DSP | c.7115G>A (p.Ser2372Asn) c.8444G>A (p.Ser2815Asn) c.6647G>A (p.Ser2216Asn) | |
| 6 | g.7585706G>C | CA362695158 | DSP | c.7115G>C (p.Ser2372Thr) c.8444G>C (p.Ser2815Thr) c.6647G>C (p.Ser2216Thr) | |
| 6 | g.7585706G>T | CA362695159 | DSP | c.7115G>T (p.Ser2372Ile) c.8444G>T (p.Ser2815Ile) c.6647G>T (p.Ser2216Ile) | ClinVar gnomAD v4 COSMIC |
| 6 | g.7585707C>A | CA362695161 | DSP | c.7116C>A (p.Ser2372Arg) c.8445C>A (p.Ser2815Arg) c.6648C>A (p.Ser2216Arg) | |
| 6 | g.7585707C= | CA1608615380 | DSP | c.7116C= (p.Ser2372=) c.8445C= (p.Ser2815=) c.6648C= (p.Ser2216=) | |
| 6 | g.7585707C>G | CA362695162 | DSP | c.7116C>G (p.Ser2372Arg) c.8445C>G (p.Ser2815Arg) c.6648C>G (p.Ser2216Arg) | |
| 6 | g.7585707C>T | CA448717203 | DSP | c.7116C>T (p.Ser2372=) c.8445C>T (p.Ser2815=) c.6648C>T (p.Ser2216=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585707_7585711del | CA2541898258 | DSP | c.7116_7120del (p.Ser2372ArgfsTer?) c.8445_8449del (p.Ser2815ArgfsTer?) c.6648_6652del (p.Ser2216ArgfsTer?) | |
| 6 | g.7585708C>A | CA362695163 | DSP | c.7117C>A (p.Pro2373Thr) c.8446C>A (p.Pro2816Thr) c.6649C>A (p.Pro2217Thr) | |
| 6 | g.7585708C>G | CA362695164 | DSP | c.7117C>G (p.Pro2373Ala) c.8446C>G (p.Pro2816Ala) c.6649C>G (p.Pro2217Ala) | |
| 6 | g.7585708C>T | CA362695165 | DSP | c.7117C>T (p.Pro2373Ser) c.8446C>T (p.Pro2816Ser) c.6649C>T (p.Pro2217Ser) | |
| 6 | g.7585709C>A | CA362695166 | DSP | c.7118C>A (p.Pro2373His) c.8447C>A (p.Pro2816His) c.6650C>A (p.Pro2217His) | |
| 6 | g.7585709C>G | CA362695168 | DSP | c.7118C>G (p.Pro2373Arg) c.8447C>G (p.Pro2816Arg) c.6650C>G (p.Pro2217Arg) | |
| 6 | g.7585709C>T | CA362695167 | DSP | c.7118C>T (p.Pro2373Leu) c.8447C>T (p.Pro2816Leu) c.6650C>T (p.Pro2217Leu) | |
| 6 | g.7585710T>A | CA448717206 | DSP | c.7119T>A (p.Pro2373=) c.8448T>A (p.Pro2816=) c.6651T>A (p.Pro2217=) | |
| 6 | g.7585710T>C | CA448717205 | DSP | c.7119T>C (p.Pro2373=) c.8448T>C (p.Pro2816=) c.6651T>C (p.Pro2217=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585710T>G | CA448717204 | DSP | c.7119T>G (p.Pro2373=) c.8448T>G (p.Pro2816=) c.6651T>G (p.Pro2217=) | |
| 6 | g.7585710T= | CA1608615384 | DSP | c.7119T= (p.Pro2373=) c.8448T= (p.Pro2816=) c.6651T= (p.Pro2217=) | |
| 6 | g.7585711T>A | CA362695169 | DSP | c.7120T>A (p.Tyr2374Asn) c.8449T>A (p.Tyr2817Asn) c.6652T>A (p.Tyr2218Asn) | gnomAD v4 |
| 6 | g.7585711T>C | CA362695170 | DSP | c.7120T>C (p.Tyr2374His) c.8449T>C (p.Tyr2817His) c.6652T>C (p.Tyr2218His) | |
| 6 | g.7585711T>G | CA362695171 | DSP | c.7120T>G (p.Tyr2374Asp) c.8449T>G (p.Tyr2817Asp) c.6652T>G (p.Tyr2218Asp) | gnomAD v4 |
| 6 | g.7585711_7585719delinsTACAACATG | CA1608615389 | DSP | c.7120_7128delinsTACAACATG (p.Tyr2374=) c.8449_8457delinsTACAACATG (p.Tyr2817=) c.6652_6660delinsTACAACATG (p.Tyr2218=) | |
| 6 | g.7585712A>C | CA362695172 | DSP | c.7121A>C (p.Tyr2374Ser) c.8450A>C (p.Tyr2817Ser) c.6653A>C (p.Tyr2218Ser) | |
| 6 | g.7585712A>G | CA362695173 | DSP | c.7121A>G (p.Tyr2374Cys) c.8450A>G (p.Tyr2817Cys) c.6653A>G (p.Tyr2218Cys) | ClinVar gnomAD v4 |
| 6 | g.7585712A>T | CA362695174 | DSP | c.7121A>T (p.Tyr2374Phe) c.8450A>T (p.Tyr2817Phe) c.6653A>T (p.Tyr2218Phe) | |
| 6 | g.7585715_7585717del | CA2578524531 | DSP | c.7124_7126del (p.Asn2375del) c.8453_8455del (p.Asn2818del) c.6656_6658del (p.Asn2219del) | ClinVar gnomAD v4 |
| 6 | g.7585712_7585719del | CA565358227 | DSP | c.7121_7128del (p.Tyr2374PhefsTer?) c.8450_8457del (p.Tyr2817PhefsTer?) c.6653_6660del (p.Tyr2218PhefsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585713C>A | CA362695175 | DSP | c.7122C>A (p.Tyr2374Ter) c.8451C>A (p.Tyr2817Ter) c.6654C>A (p.Tyr2218Ter) | gnomAD v4 |
| 6 | g.7585713C>G | CA362695176 | DSP | c.7122C>G (p.Tyr2374Ter) c.8451C>G (p.Tyr2817Ter) c.6654C>G (p.Tyr2218Ter) | |
| 6 | g.7585713C>T | CA448717210 | DSP | c.7122C>T (p.Tyr2374=) c.8451C>T (p.Tyr2817=) c.6654C>T (p.Tyr2218=) | ClinVar |
| 6 | g.7585714A>C | CA362695177 | DSP | c.7123A>C (p.Asn2375His) c.8452A>C (p.Asn2818His) c.6655A>C (p.Asn2219His) | |
| 6 | g.7585714A>G | CA362695178 | DSP | c.7123A>G (p.Asn2375Asp) c.8452A>G (p.Asn2818Asp) c.6655A>G (p.Asn2219Asp) | |
| 6 | g.7585714A>T | CA362695179 | DSP | c.7123A>T (p.Asn2375Tyr) c.8452A>T (p.Asn2818Tyr) c.6655A>T (p.Asn2219Tyr) | |
| 6 | g.7585715A= | CA1608615398 | DSP | c.7124A= (p.Asn2375=) c.8453A= (p.Asn2818=) c.6656A= (p.Asn2219=) | |
| 6 | g.7585715A>C | CA362695182 | DSP | c.7124A>C (p.Asn2375Thr) c.8453A>C (p.Asn2818Thr) c.6656A>C (p.Asn2219Thr) | |
| 6 | g.7585715A>G | CA362695181 | DSP | c.7124A>G (p.Asn2375Ser) c.8453A>G (p.Asn2818Ser) c.6656A>G (p.Asn2219Ser) | |
| 6 | g.7585715A>T | CA362695180 | DSP | c.7124A>T (p.Asn2375Ile) c.8453A>T (p.Asn2818Ile) c.6656A>T (p.Asn2219Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585716C>A | CA362695183 | DSP | c.7125C>A (p.Asn2375Lys) c.8454C>A (p.Asn2818Lys) c.6657C>A (p.Asn2219Lys) | |
| 6 | g.7585716C= | CA1608615402 | DSP | c.7125C= (p.Asn2375=) c.8454C= (p.Asn2818=) c.6657C= (p.Asn2219=) | |
| 6 | g.7585716C>G | CA362695184 | DSP | c.7125C>G (p.Asn2375Lys) c.8454C>G (p.Asn2818Lys) c.6657C>G (p.Asn2219Lys) | |
| 6 | g.7585716C>T | CA052340 | DSP | c.7125C>T (p.Asn2375=) c.8454C>T (p.Asn2818=) c.6657C>T (p.Asn2219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585717A= | CA1608615408 | DSP | c.7126A= (p.Met2376=) c.8455A= (p.Met2819=) c.6658A= (p.Met2220=) | |
| 6 | g.7585717A>C | CA007553 | DSP | c.7126A>C (p.Met2376Leu) c.8455A>C (p.Met2819Leu) c.6658A>C (p.Met2220Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585717A>G | CA362695186 | DSP | c.7126A>G (p.Met2376Val) c.8455A>G (p.Met2819Val) c.6658A>G (p.Met2220Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585717A>T | CA362695185 | DSP | c.7126A>T (p.Met2376Leu) c.8455A>T (p.Met2819Leu) c.6658A>T (p.Met2220Leu) | |
| 6 | g.7585718T>A | CA362695187 | DSP | c.7127T>A (p.Met2376Lys) c.8456T>A (p.Met2819Lys) c.6659T>A (p.Met2220Lys) | |
| 6 | g.7585718T>C | CA362695189 | DSP | c.7127T>C (p.Met2376Thr) c.8456T>C (p.Met2819Thr) c.6659T>C (p.Met2220Thr) | gnomAD v4 |
| 6 | g.7585718T>G | CA362695188 | DSP | c.7127T>G (p.Met2376Arg) c.8456T>G (p.Met2819Arg) c.6659T>G (p.Met2220Arg) | |
| 6 | g.7585719G>A | CA362695190 | DSP | c.7128G>A (p.Met2376Ile) c.8457G>A (p.Met2819Ile) c.6660G>A (p.Met2220Ile) | |
| 6 | g.7585719G>C | CA362695191 | DSP | c.7128G>C (p.Met2376Ile) c.8457G>C (p.Met2819Ile) c.6660G>C (p.Met2220Ile) | |
| 6 | g.7585719G>T | CA362695192 | DSP | c.7128G>T (p.Met2376Ile) c.8457G>T (p.Met2819Ile) c.6660G>T (p.Met2220Ile) | |
| 6 | g.7585720T>A | CA362695193 | DSP | c.7129T>A (p.Ser2377Thr) c.8458T>A (p.Ser2820Thr) c.6661T>A (p.Ser2221Thr) | |
| 6 | g.7585720T>C | CA362695194 | DSP | c.7129T>C (p.Ser2377Pro) c.8458T>C (p.Ser2820Pro) c.6661T>C (p.Ser2221Pro) | |
| 6 | g.7585720T>G | CA362695195 | DSP | c.7129T>G (p.Ser2377Ala) c.8458T>G (p.Ser2820Ala) c.6661T>G (p.Ser2221Ala) | |
| 6 | g.7585721C>A | CA362695196 | DSP | c.7130C>A (p.Ser2377Tyr) c.8459C>A (p.Ser2820Tyr) c.6662C>A (p.Ser2221Tyr) | |
| 6 | g.7585721C= | CA1608615418 | DSP | c.7130C= (p.Ser2377=) c.8459C= (p.Ser2820=) c.6662C= (p.Ser2221=) | |
| 6 | g.7585721C>G | CA362695197 | DSP | c.7130C>G (p.Ser2377Cys) c.8459C>G (p.Ser2820Cys) c.6662C>G (p.Ser2221Cys) | |
| 6 | g.7585721C>T | CA052357 | DSP | c.7130C>T (p.Ser2377Phe) c.8459C>T (p.Ser2820Phe) c.6662C>T (p.Ser2221Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585722T>A | CA448717212 | DSP | c.7131T>A (p.Ser2377=) c.8460T>A (p.Ser2820=) c.6663T>A (p.Ser2221=) | |
| 6 | g.7585722T>C | CA448717213 | DSP | c.7131T>C (p.Ser2377=) c.8460T>C (p.Ser2820=) c.6663T>C (p.Ser2221=) | |
| 6 | g.7585722T>G | CA448717214 | DSP | c.7131T>G (p.Ser2377=) c.8460T>G (p.Ser2820=) c.6663T>G (p.Ser2221=) | |
| 6 | g.7585723T>A | CA362695198 | DSP | c.7132T>A (p.Ser2378Thr) c.8461T>A (p.Ser2821Thr) c.6664T>A (p.Ser2222Thr) | |
| 6 | g.7585723T>C | CA362695199 | DSP | c.7132T>C (p.Ser2378Pro) c.8461T>C (p.Ser2821Pro) c.6664T>C (p.Ser2222Pro) | |
| 6 | g.7585723T>G | CA362695200 | DSP | c.7132T>G (p.Ser2378Ala) c.8461T>G (p.Ser2821Ala) c.6664T>G (p.Ser2222Ala) | |
| 6 | g.7585724C>A | CA362695202 | DSP | c.7133C>A (p.Ser2378Ter) c.8462C>A (p.Ser2821Ter) c.6665C>A (p.Ser2222Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585724C= | CA1608615425 | DSP | c.7133C= (p.Ser2378=) c.8462C= (p.Ser2821=) c.6665C= (p.Ser2222=) | |
| 6 | g.7585724C>G | CA362695201 | DSP | c.7133C>G (p.Ser2378Trp) c.8462C>G (p.Ser2821Trp) c.6665C>G (p.Ser2222Trp) | |
| 6 | g.7585724C>T | CA007566 | DSP | c.7133C>T (p.Ser2378Leu) c.8462C>T (p.Ser2821Leu) c.6665C>T (p.Ser2222Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585724_7585725del | CA2573052742 | DSP | c.7133_7134del (p.Ser2378CysfsTer30) c.8462_8463del (p.Ser2821CysfsTer30) c.6665_6666del (p.Ser2222CysfsTer30) | ClinVar dbSNP |
| 6 | g.7585725_7585737dup | CA2578524532 | DSP | c.7134_7146dup (p.Arg2383GlyfsTer30) c.8463_8475dup (p.Arg2826GlyfsTer30) c.6666_6678dup (p.Arg2227GlyfsTer30) | |
| 6 | g.7585731_7585749del | CA2573140825 | DSP | c.7140_7158del (p.Gly2381AlafsTer?) c.8469_8487del (p.Gly2824AlafsTer?) c.6672_6690del (p.Gly2225AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585725G>A | CA448717215 | DSP | c.7134G>A (p.Ser2378=) c.8463G>A (p.Ser2821=) c.6666G>A (p.Ser2222=) | ClinVar COSMIC |
| 6 | g.7585725G>C | CA448717216 | DSP | c.7134G>C (p.Ser2378=) c.8463G>C (p.Ser2821=) c.6666G>C (p.Ser2222=) | |
| 6 | g.7585725G>T | CA448717217 | DSP | c.7134G>T (p.Ser2378=) c.8463G>T (p.Ser2821=) c.6666G>T (p.Ser2222=) | gnomAD v4 |
| 6 | g.7585725_7585738delinsGGCTCCGGGGTCCC | CA1608615430 | DSP | c.7134_7147delinsGGCTCCGGGGTCCC (p.Ser2378=) c.8463_8476delinsGGCTCCGGGGTCCC (p.Ser2821=) c.6666_6679delinsGGCTCCGGGGTCCC (p.Ser2222=) | |
| 6 | g.7585726G>A | CA362695203 | DSP | c.7135G>A (p.Ala2379Thr) c.8464G>A (p.Ala2822Thr) c.6667G>A (p.Ala2223Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585726G>C | CA362695204 | DSP | c.7135G>C (p.Ala2379Pro) c.8464G>C (p.Ala2822Pro) c.6667G>C (p.Ala2223Pro) | ClinVar |
| 6 | g.7585726G= | CA1608615433 | DSP | c.7135G= (p.Ala2379=) c.8464G= (p.Ala2822=) c.6667G= (p.Ala2223=) | |
| 6 | g.7585726G>T | CA362695205 | DSP | c.7135G>T (p.Ala2379Ser) c.8464G>T (p.Ala2822Ser) c.6667G>T (p.Ala2223Ser) | |
| 6 | g.7585733_7585745del | CA1608615432 | DSP | c.7142_7154del (p.Gly2381AlafsTer?) c.8471_8483del (p.Gly2824AlafsTer?) c.6674_6686del (p.Gly2225AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585727C>A | CA362695206 | DSP | c.7136C>A (p.Ala2379Asp) c.8465C>A (p.Ala2822Asp) c.6668C>A (p.Ala2223Asp) | |
| 6 | g.7585727C>G | CA362695207 | DSP | c.7136C>G (p.Ala2379Gly) c.8465C>G (p.Ala2822Gly) c.6668C>G (p.Ala2223Gly) | |
| 6 | g.7585727C>T | CA362695208 | DSP | c.7136C>T (p.Ala2379Val) c.8465C>T (p.Ala2822Val) c.6668C>T (p.Ala2223Val) | |
| 6 | g.7585728T>A | CA448717218 | DSP | c.7137T>A (p.Ala2379=) c.8466T>A (p.Ala2822=) c.6669T>A (p.Ala2223=) | |
| 6 | g.7585728T>C | CA133978030 | DSP | c.7137T>C (p.Ala2379=) c.8466T>C (p.Ala2822=) c.6669T>C (p.Ala2223=) | ClinVar dbSNP |
| 6 | g.7585728T>G | CA448717219 | DSP | c.7137T>G (p.Ala2379=) c.8466T>G (p.Ala2822=) c.6669T>G (p.Ala2223=) | |
| 6 | g.7585728T= | CA1608615439 | DSP | c.7137T= (p.Ala2379=) c.8466T= (p.Ala2822=) c.6669T= (p.Ala2223=) | |
| 6 | g.7585729C>A | CA362695209 | DSP | c.7138C>A (p.Pro2380Thr) c.8467C>A (p.Pro2823Thr) c.6670C>A (p.Pro2224Thr) | |
| 6 | g.7585729C= | CA1608615443 | DSP | c.7138C= (p.Pro2380=) c.8467C= (p.Pro2823=) c.6670C= (p.Pro2224=) | |
| 6 | g.7585729C>G | CA007575 | DSP | c.7138C>G (p.Pro2380Ala) c.8467C>G (p.Pro2823Ala) c.6670C>G (p.Pro2224Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585729C>T | CA362695210 | DSP | c.7138C>T (p.Pro2380Ser) c.8467C>T (p.Pro2823Ser) c.6670C>T (p.Pro2224Ser) | dbSNP |
| 6 | g.7585729_7585753delinsCCGGGGTCCCGCTCCGGCTCCCGCT | CA1608615447 | DSP | c.7138_7162delinsCCGGGGTCCCGCTCCGGCTCCCGCT (p.Pro2380=) c.8467_8491delinsCCGGGGTCCCGCTCCGGCTCCCGCT (p.Pro2823=) c.6670_6694delinsCCGGGGTCCCGCTCCGGCTCCCGCT (p.Pro2224=) | |
| 6 | g.7585730C>A | CA362695211 | DSP | c.7139C>A (p.Pro2380Gln) c.8468C>A (p.Pro2823Gln) c.6671C>A (p.Pro2224Gln) | COSMIC |
| 6 | g.7585730C= | CA1608615462 | DSP | c.7139C= (p.Pro2380=) c.8468C= (p.Pro2823=) c.6671C= (p.Pro2224=) | |
| 6 | g.7585730C>G | CA362695212 | DSP | c.7139C>G (p.Pro2380Arg) c.8468C>G (p.Pro2823Arg) c.6671C>G (p.Pro2224Arg) | |
| 6 | g.7585730C>T | CA362695213 | DSP | c.7139C>T (p.Pro2380Leu) c.8468C>T (p.Pro2823Leu) c.6671C>T (p.Pro2224Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585731_7585742dup | CA565358229 | DSP | c.7140_7151dup (p.Ser2384_Gly2385insGlySerArgSer) c.8469_8480dup (p.Ser2827_Gly2828insGlySerArgSer) c.6672_6683dup (p.Ser2228_Gly2229insGlySerArgSer) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585734_7585757del | CA565358228 | DSP | c.7143_7166del (p.Ser2382_Gly2389del) c.8472_8495del (p.Ser2825_Gly2832del) c.6675_6698del (p.Ser2226_Gly2233del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585731G>A | CA448717221 | DSP | c.7140G>A (p.Pro2380=) c.8469G>A (p.Pro2823=) c.6672G>A (p.Pro2224=) | ClinVar dbSNP |
| 6 | g.7585731G>C | CA448717222 | DSP | c.7140G>C (p.Pro2380=) c.8469G>C (p.Pro2823=) c.6672G>C (p.Pro2224=) | |
| 6 | g.7585731G= | CA1608615481 | DSP | c.7140G= (p.Pro2380=) c.8469G= (p.Pro2823=) c.6672G= (p.Pro2224=) | |
| 6 | g.7585731G>T | CA448717223 | DSP | c.7140G>T (p.Pro2380=) c.8469G>T (p.Pro2823=) c.6672G>T (p.Pro2224=) | gnomAD v4 |
| 6 | g.7585731_7585732delinsAA | CA645552064 | DSP | c.7140_7141delinsAA (p.Gly2381Arg) c.8469_8470delinsAA (p.Gly2824Arg) c.6672_6673delinsAA (p.Gly2225Arg) | COSMIC |
| 6 | g.7585731_7585743delinsGGGGTCCCGCTCC | CA1608615477 | DSP | c.7140_7152delinsGGGGTCCCGCTCC (p.Pro2380=) c.8469_8481delinsGGGGTCCCGCTCC (p.Pro2823=) c.6672_6684delinsGGGGTCCCGCTCC (p.Pro2224=) | |
| 6 | g.7585732G>A | CA362695215 | DSP | c.7141G>A (p.Gly2381Arg) c.8470G>A (p.Gly2824Arg) c.6673G>A (p.Gly2225Arg) | |
| 6 | g.7585732G>C | CA362695214 | DSP | c.7141G>C (p.Gly2381Arg) c.8470G>C (p.Gly2824Arg) c.6673G>C (p.Gly2225Arg) | |
| 6 | g.7585732G>T | CA362695216 | DSP | c.7141G>T (p.Gly2381Trp) c.8470G>T (p.Gly2824Trp) c.6673G>T (p.Gly2225Trp) | |
| 6 | g.7585732_7585738delinsGGGTCCC | CA1608615490 | DSP | c.7141_7147delinsGGGTCCC (p.Gly2381=) c.8470_8476delinsGGGTCCC (p.Gly2824=) c.6673_6679delinsGGGTCCC (p.Gly2225=) | |
| 6 | g.7585734_7585745del | CA007583 | DSP | c.7143_7154del (p.Ser2382_Gly2385del) c.8472_8483del (p.Ser2825_Gly2828del) c.6675_6686del (p.Ser2226_Gly2229del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585733G>A | CA362695217 | DSP | c.7142G>A (p.Gly2381Glu) c.8471G>A (p.Gly2824Glu) c.6674G>A (p.Gly2225Glu) | |
| 6 | g.7585733G>C | CA362695218 | DSP | c.7142G>C (p.Gly2381Ala) c.8471G>C (p.Gly2824Ala) c.6674G>C (p.Gly2225Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585733G= | CA1608615499 | DSP | c.7142G= (p.Gly2381=) c.8471G= (p.Gly2824=) c.6674G= (p.Gly2225=) | |
| 6 | g.7585733G>T | CA362695219 | DSP | c.7142G>T (p.Gly2381Val) c.8471G>T (p.Gly2824Val) c.6674G>T (p.Gly2225Val) | |
| 6 | g.7585733_7585735delinsGGT | CA1608615495 | DSP | c.7142_7144delinsGGT (p.Gly2381=) c.8471_8473delinsGGT (p.Gly2824=) c.6674_6676delinsGGT (p.Gly2225=) | |
| 6 | g.7585734_7585739del | CA1085707195 | DSP | c.7143_7148del (p.Ser2382_Arg2383del) c.8472_8477del (p.Ser2825_Arg2826del) c.6675_6680del (p.Ser2226_Arg2227del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585733_7585734insCTCCC | CA3628103 | DSP | c.7142_7143insCTCCC (p.Ser2384ProfsTer?) c.8471_8472insCTCCC (p.Ser2827ProfsTer?) c.6674_6675insCTCCC (p.Ser2228ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585734G>A | CA448717225 | DSP | c.7143G>A (p.Gly2381=) c.8472G>A (p.Gly2824=) c.6675G>A (p.Gly2225=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585734G>C | CA007601 | DSP | c.7143G>C (p.Gly2381=) c.8472G>C (p.Gly2824=) c.6675G>C (p.Gly2225=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585734G= | CA180735 | DSP | c.7143G= (p.Gly2381=) c.8472G= (p.Gly2824=) c.6675G= (p.Gly2225=) | |
| 6 | g.7585734G>T | CA448717226 | DSP | c.7143G>T (p.Gly2381=) c.8472G>T (p.Gly2824=) c.6675G>T (p.Gly2225=) | dbSNP |
| 6 | g.7585734_7585735del | CA3628102 | DSP | c.7143_7144del (p.Ser2382ProfsTer26) c.8472_8473del (p.Ser2825ProfsTer26) c.6675_6676del (p.Ser2226ProfsTer26) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585734_7585746delinsGTCCCGCTCCGGC | CA1608615508 | DSP | c.7143_7155delinsGTCCCGCTCCGGC (p.Gly2381=) c.8472_8484delinsGTCCCGCTCCGGC (p.Gly2824=) c.6675_6687delinsGTCCCGCTCCGGC (p.Gly2225=) | |
| 6 | g.7585734_7585735insGT | CA133978062 | DSP | c.7143_7144insGT (p.Ser2382ValfsTer?) c.8472_8473insGT (p.Ser2825ValfsTer?) c.6675_6676insGT (p.Ser2226ValfsTer?) | |
| 6 | g.7585734_7585735insCTCCGGC | CA052414 | DSP | c.7143_7144insCTCCGGC (p.Ser2382LeufsTer29) c.8472_8473insCTCCGGC (p.Ser2825LeufsTer29) c.6675_6676insCTCCGGC (p.Ser2226LeufsTer29) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585734_7585735insCTCCGGCTCCCGCTCGGGC | CA565358230 | DSP | c.7143_7144insCTCCGGCTCCCGCTCGGGC (p.Ser2382LeufsTer33) c.8472_8473insCTCCGGCTCCCGCTCGGGC (p.Ser2825LeufsTer33) c.6675_6676insCTCCGGCTCCCGCTCGGGC (p.Ser2226LeufsTer33) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585735T>A | CA362695222 | DSP | c.7144T>A (p.Ser2382Thr) c.8473T>A (p.Ser2825Thr) c.6676T>A (p.Ser2226Thr) | dbSNP gnomAD v4 |
| 6 | g.7585735T>C | CA362695221 | DSP | c.7144T>C (p.Ser2382Pro) c.8473T>C (p.Ser2825Pro) c.6676T>C (p.Ser2226Pro) | |
| 6 | g.7585735T>G | CA362695220 | DSP | c.7144T>G (p.Ser2382Ala) c.8473T>G (p.Ser2825Ala) c.6676T>G (p.Ser2226Ala) | |
| 6 | g.7585735T= | CA1608615523 | DSP | c.7144T= (p.Ser2382=) c.8473T= (p.Ser2825=) c.6676T= (p.Ser2226=) | |
| 6 | g.7585743_7585754del | CA007617 | DSP | c.7152_7163del (p.Gly2385_Ser2388del) c.8481_8492del (p.Gly2828_Ser2831del) c.6684_6695del (p.Gly2229_Ser2232del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585736C>A | CA362695223 | DSP | c.7145C>A (p.Ser2382Tyr) c.8474C>A (p.Ser2825Tyr) c.6677C>A (p.Ser2226Tyr) | |
| 6 | g.7585736C= | CA1608615531 | DSP | c.7145C= (p.Ser2382=) c.8474C= (p.Ser2825=) c.6677C= (p.Ser2226=) | |
| 6 | g.7585736C>G | CA362695224 | DSP | c.7145C>G (p.Ser2382Cys) c.8474C>G (p.Ser2825Cys) c.6677C>G (p.Ser2226Cys) | dbSNP gnomAD v4 |
| 6 | g.7585736C>T | CA362695225 | DSP | c.7145C>T (p.Ser2382Phe) c.8474C>T (p.Ser2825Phe) c.6677C>T (p.Ser2226Phe) | |
| 6 | g.7585736_7585758delinsCCCGCTCCGGCTCCCGCTCGGGA | CA1608615532 | DSP | c.7145_7167delinsCCCGCTCCGGCTCCCGCTCGGGA (p.Ser2382=) c.8474_8496delinsCCCGCTCCGGCTCCCGCTCGGGA (p.Ser2825=) c.6677_6699delinsCCCGCTCCGGCTCCCGCTCGGGA (p.Ser2226=) | |
| 6 | g.7585737C>A | CA448717232 | DSP | c.7146C>A (p.Ser2382=) c.8475C>A (p.Ser2825=) c.6678C>A (p.Ser2226=) | |
| 6 | g.7585737C>G | CA448717233 | DSP | c.7146C>G (p.Ser2382=) c.8475C>G (p.Ser2825=) c.6678C>G (p.Ser2226=) | |
| 6 | g.7585737C>T | CA448717234 | DSP | c.7146C>T (p.Ser2382=) c.8475C>T (p.Ser2825=) c.6678C>T (p.Ser2226=) | gnomAD v4 |
| 6 | g.7585740_7585744del | CA2578524533 | DSP | c.7149_7153del (p.Ser2384LeufsTer23) c.8478_8482del (p.Ser2827LeufsTer23) c.6681_6685del (p.Ser2228LeufsTer23) | |
| 6 | g.7585737_7585758del | CA052448 | DSP | c.7146_7167del (p.Arg2383LeufsTer?) c.8475_8496del (p.Arg2826LeufsTer?) c.6678_6699del (p.Arg2227LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585737_7585761delinsCCGCTCCGGCTCCCGCTCGGGATCT | CA1608615534 | DSP | c.7146_7170delinsCCGCTCCGGCTCCCGCTCGGGATCT (p.Ser2382=) c.8475_8499delinsCCGCTCCGGCTCCCGCTCGGGATCT (p.Ser2825=) c.6678_6702delinsCCGCTCCGGCTCCCGCTCGGGATCT (p.Ser2226=) | |
| 6 | g.7585738C>A | CA362695226 | DSP | c.7147C>A (p.Arg2383Ser) c.8476C>A (p.Arg2826Ser) c.6679C>A (p.Arg2227Ser) | ClinVar dbSNP |
| 6 | g.7585738C= | CA1608615537 | DSP | c.7147C= (p.Arg2383=) c.8476C= (p.Arg2826=) c.6679C= (p.Arg2227=) | |
| 6 | g.7585738C>G | CA362695227 | DSP | c.7147C>G (p.Arg2383Gly) c.8476C>G (p.Arg2826Gly) c.6679C>G (p.Arg2227Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585738C>T | CA007610 | DSP | c.7147C>T (p.Arg2383Cys) c.8476C>T (p.Arg2826Cys) c.6679C>T (p.Arg2227Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585746_7585769del | CA133978081 | DSP | c.7155_7178del (p.Ser2386_Gly2393del) c.8484_8507del (p.Ser2829_Gly2836del) c.6687_6710del (p.Ser2230_Gly2237del) | ClinVar dbSNP |
| 6 | g.7585738_7585739insCGGGG | CA565358231 | DSP | c.7147_7148insCGGGG (p.Arg2383ProfsTer?) c.8476_8477insCGGGG (p.Arg2826ProfsTer?) c.6679_6680insCGGGG (p.Arg2227ProfsTer?) | gnomAD v2 |
| 6 | g.7585739G>A | CA052461 | DSP | c.7148G>A (p.Arg2383His) c.8477G>A (p.Arg2826His) c.6680G>A (p.Arg2227His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585739G>C | CA362695228 | DSP | c.7148G>C (p.Arg2383Pro) c.8477G>C (p.Arg2826Pro) c.6680G>C (p.Arg2227Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585739G= | CA1608615542 | DSP | c.7148G= (p.Arg2383=) c.8477G= (p.Arg2826=) c.6680G= (p.Arg2227=) | |
| 6 | g.7585739G>T | CA362695229 | DSP | c.7148G>T (p.Arg2383Leu) c.8477G>T (p.Arg2826Leu) c.6680G>T (p.Arg2227Leu) | |
| 6 | g.7585740C>A | CA448531233 | DSP | c.7149C>A (p.Arg2383=) c.8478C>A (p.Arg2826=) c.6681C>A (p.Arg2227=) | |
| 6 | g.7585740C= | CA1608615558 | DSP | c.7149C= (p.Arg2383=) c.8478C= (p.Arg2826=) c.6681C= (p.Arg2227=) | |
| 6 | g.7585740C>G | CA448531235 | DSP | c.7149C>G (p.Arg2383=) c.8478C>G (p.Arg2826=) c.6681C>G (p.Arg2227=) | gnomAD v4 |
| 6 | g.7585740C>T | CA448531234 | DSP | c.7149C>T (p.Arg2383=) c.8478C>T (p.Arg2826=) c.6681C>T (p.Arg2227=) | ClinVar |
| 6 | g.7585741T>A | CA362695232 | DSP | c.7150T>A (p.Ser2384Thr) c.8479T>A (p.Ser2827Thr) c.6682T>A (p.Ser2228Thr) | |
| 6 | g.7585741T>C | CA362695231 | DSP | c.7150T>C (p.Ser2384Pro) c.8479T>C (p.Ser2827Pro) c.6682T>C (p.Ser2228Pro) | |
| 6 | g.7585741T>G | CA362695230 | DSP | c.7150T>G (p.Ser2384Ala) c.8479T>G (p.Ser2827Ala) c.6682T>G (p.Ser2228Ala) | |
| 6 | g.7585741_7585742insGATTGATAGAGATTTGTATCGAT | CA565105930 | DSP | c.7150_7151insGATTGATAGAGATTTGTATCGAT (p.Ser2384Ter) c.8479_8480insGATTGATAGAGATTTGTATCGAT (p.Ser2827Ter) c.6682_6683insGATTGATAGAGATTTGTATCGAT (p.Ser2228Ter) | dbSNP gnomAD v2 |
| 6 | g.7585742C>A | CA362695233 | DSP | c.7151C>A (p.Ser2384Tyr) c.8480C>A (p.Ser2827Tyr) c.6683C>A (p.Ser2228Tyr) | |
| 6 | g.7585742C= | CA1608615566 | DSP | c.7151C= (p.Ser2384=) c.8480C= (p.Ser2827=) c.6683C= (p.Ser2228=) | |
| 6 | g.7585742C>G | CA052462 | DSP | c.7151C>G (p.Ser2384Cys) c.8480C>G (p.Ser2827Cys) c.6683C>G (p.Ser2228Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585742C>T | CA362695234 | DSP | c.7151C>T (p.Ser2384Phe) c.8480C>T (p.Ser2827Phe) c.6683C>T (p.Ser2228Phe) | ClinVar dbSNP |
| 6 | g.7585743C>A | CA448531236 | DSP | c.7152C>A (p.Ser2384=) c.8481C>A (p.Ser2827=) c.6684C>A (p.Ser2228=) | |
| 6 | g.7585743C= | CA1608615578 | DSP | c.7152C= (p.Ser2384=) c.8481C= (p.Ser2827=) c.6684C= (p.Ser2228=) | |
| 6 | g.7585743C>G | CA448531237 | DSP | c.7152C>G (p.Ser2384=) c.8481C>G (p.Ser2827=) c.6684C>G (p.Ser2228=) | ClinVar |
| 6 | g.7585743C>T | CA007634 | DSP | c.7152C>T (p.Ser2384=) c.8481C>T (p.Ser2827=) c.6684C>T (p.Ser2228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585743_7585755delinsCGGCTCCCGCTCG | CA1608615570 | DSP | c.7152_7164delinsCGGCTCCCGCTCG (p.Ser2384=) c.8481_8493delinsCGGCTCCCGCTCG (p.Ser2827=) c.6684_6696delinsCGGCTCCCGCTCG (p.Ser2228=) | |
| 6 | g.7585743_7585761delinsCGGCTCCCGCTCGGGATCT | CA1608615573 | DSP | c.7152_7170delinsCGGCTCCCGCTCGGGATCT (p.Ser2384=) c.8481_8499delinsCGGCTCCCGCTCGGGATCT (p.Ser2827=) c.6684_6702delinsCGGCTCCCGCTCGGGATCT (p.Ser2228=) |