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 |
|---|---|---|---|---|---|
| 3 | g.15644499C>A | CA351606741 | BTD | c.583C>A (p.Leu195Ile) c.399+2442C>A (n.399+2442C>A) c.165+2442C>A (n.165+2442C>A) c.643C>A (p.Leu215Ile) c.649C>A (p.Leu217Ile) c.361C>A (p.Leu121Ile) c.*2361C>A (n.*2361C>A) | |
| 3 | g.15644499C= | CA1347663853 | BTD | c.583C= (p.Leu195=) c.399+2442C= (n.399+2442C=) c.165+2442C= (n.165+2442C=) c.643C= (p.Leu215=) c.649C= (p.Leu217=) c.361C= (p.Leu121=) c.*2361C= (n.*2361C=) | |
| 3 | g.15644499C>G | CA2277354 | BTD | c.583C>G (p.Leu195Val) c.399+2442C>G (n.399+2442C>G) c.165+2442C>G (n.165+2442C>G) c.643C>G (p.Leu215Val) c.649C>G (p.Leu217Val) c.361C>G (p.Leu121Val) c.*2361C>G (n.*2361C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644499C>T | CA278243 | BTD | c.583C>T (p.Leu195Phe) c.399+2442C>T (n.399+2442C>T) c.165+2442C>T (n.165+2442C>T) c.643C>T (p.Leu215Phe) c.649C>T (p.Leu217Phe) c.361C>T (p.Leu121Phe) c.*2361C>T (n.*2361C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644500T>A | CA351606742 | BTD | c.584T>A (p.Leu195His) c.399+2443T>A (n.399+2443T>A) c.165+2443T>A (n.165+2443T>A) c.644T>A (p.Leu215His) c.650T>A (p.Leu217His) c.362T>A (p.Leu121His) c.*2362T>A (n.*2362T>A) | |
| 3 | g.15644500T>C | CA351606743 | BTD | c.584T>C (p.Leu195Pro) c.399+2443T>C (n.399+2443T>C) c.165+2443T>C (n.165+2443T>C) c.644T>C (p.Leu215Pro) c.650T>C (p.Leu217Pro) c.362T>C (p.Leu121Pro) c.*2362T>C (n.*2362T>C) | |
| 3 | g.15644500T>G | CA351606744 | BTD | c.584T>G (p.Leu195Arg) c.399+2443T>G (n.399+2443T>G) c.165+2443T>G (n.165+2443T>G) c.644T>G (p.Leu215Arg) c.650T>G (p.Leu217Arg) c.362T>G (p.Leu121Arg) c.*2362T>G (n.*2362T>G) | |
| 3 | g.15644501C>A | CA432819356 | BTD | c.585C>A (p.Leu195=) c.399+2444C>A (n.399+2444C>A) c.165+2444C>A (n.165+2444C>A) c.645C>A (p.Leu215=) c.651C>A (p.Leu217=) c.363C>A (p.Leu121=) c.*2363C>A (n.*2363C>A) | |
| 3 | g.15644501C= | CA1347663863 | BTD | c.585C= (p.Leu195=) c.399+2444C= (n.399+2444C=) c.165+2444C= (n.165+2444C=) c.645C= (p.Leu215=) c.651C= (p.Leu217=) c.363C= (p.Leu121=) c.*2363C= (n.*2363C=) | |
| 3 | g.15644501C>G | CA432819358 | BTD | c.585C>G (p.Leu195=) c.399+2444C>G (n.399+2444C>G) c.165+2444C>G (n.165+2444C>G) c.645C>G (p.Leu215=) c.651C>G (p.Leu217=) c.363C>G (p.Leu121=) c.*2363C>G (n.*2363C>G) | |
| 3 | g.15644501C>T | CA145713 | BTD | c.585C>T (p.Leu195=) c.399+2444C>T (n.399+2444C>T) c.165+2444C>T (n.165+2444C>T) c.645C>T (p.Leu215=) c.651C>T (p.Leu217=) c.363C>T (p.Leu121=) c.*2363C>T (n.*2363C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644502T>A | CA351606747 | BTD | c.586T>A (p.Tyr196Asn) c.399+2445T>A (n.399+2445T>A) c.165+2445T>A (n.165+2445T>A) c.646T>A (p.Tyr216Asn) c.652T>A (p.Tyr218Asn) c.364T>A (p.Tyr122Asn) c.*2364T>A (n.*2364T>A) | |
| 3 | g.15644502T>C | CA351606746 | BTD | c.586T>C (p.Tyr196His) c.399+2445T>C (n.399+2445T>C) c.165+2445T>C (n.165+2445T>C) c.646T>C (p.Tyr216His) c.652T>C (p.Tyr218His) c.364T>C (p.Tyr122His) c.*2364T>C (n.*2364T>C) | |
| 3 | g.15644502T>G | CA351606745 | BTD | c.586T>G (p.Tyr196Asp) c.399+2445T>G (n.399+2445T>G) c.165+2445T>G (n.165+2445T>G) c.646T>G (p.Tyr216Asp) c.652T>G (p.Tyr218Asp) c.364T>G (p.Tyr122Asp) c.*2364T>G (n.*2364T>G) | |
| 3 | g.15644502T= | CA1347663868 | BTD | c.586T= (p.Tyr196=) c.399+2445T= (n.399+2445T=) c.165+2445T= (n.165+2445T=) c.646T= (p.Tyr216=) c.652T= (p.Tyr218=) c.364T= (p.Tyr122=) c.*2364T= (n.*2364T=) | |
| 3 | g.15644503A>C | CA351606748 | BTD | c.587A>C (p.Tyr196Ser) c.399+2446A>C (n.399+2446A>C) c.165+2446A>C (n.165+2446A>C) c.647A>C (p.Tyr216Ser) c.653A>C (p.Tyr218Ser) c.365A>C (p.Tyr122Ser) c.*2365A>C (n.*2365A>C) | |
| 3 | g.15644503A>G | CA351606749 | BTD | c.587A>G (p.Tyr196Cys) c.399+2446A>G (n.399+2446A>G) c.165+2446A>G (n.165+2446A>G) c.647A>G (p.Tyr216Cys) c.653A>G (p.Tyr218Cys) c.365A>G (p.Tyr122Cys) c.*2365A>G (n.*2365A>G) | |
| 3 | g.15644503A>T | CA351606750 | BTD | c.587A>T (p.Tyr196Phe) c.399+2446A>T (n.399+2446A>T) c.165+2446A>T (n.165+2446A>T) c.647A>T (p.Tyr216Phe) c.653A>T (p.Tyr218Phe) c.365A>T (p.Tyr122Phe) c.*2365A>T (n.*2365A>T) | gnomAD v4 |
| 3 | g.15644504C>A | CA351606751 | BTD | c.588C>A (p.Tyr196Ter) c.399+2447C>A (n.399+2447C>A) c.165+2447C>A (n.165+2447C>A) c.648C>A (p.Tyr216Ter) c.654C>A (p.Tyr218Ter) c.366C>A (p.Tyr122Ter) c.*2366C>A (n.*2366C>A) | dbSNP |
| 3 | g.15644504C= | CA1347663871 | BTD | c.588C= (p.Tyr196=) c.399+2447C= (n.399+2447C=) c.165+2447C= (n.165+2447C=) c.648C= (p.Tyr216=) c.654C= (p.Tyr218=) c.366C= (p.Tyr122=) c.*2366C= (n.*2366C=) | |
| 3 | g.15644504C>G | CA351606752 | BTD | c.588C>G (p.Tyr196Ter) c.399+2447C>G (n.399+2447C>G) c.165+2447C>G (n.165+2447C>G) c.648C>G (p.Tyr216Ter) c.654C>G (p.Tyr218Ter) c.366C>G (p.Tyr122Ter) c.*2366C>G (n.*2366C>G) | ClinVar dbSNP |
| 3 | g.15644504C>T | CA432819361 | BTD | c.588C>T (p.Tyr196=) c.399+2447C>T (n.399+2447C>T) c.165+2447C>T (n.165+2447C>T) c.648C>T (p.Tyr216=) c.654C>T (p.Tyr218=) c.366C>T (p.Tyr122=) c.*2366C>T (n.*2366C>T) | |
| 3 | g.15644504_15644507delinsCTTT | CA1347663873 | BTD | c.588_591delinsCTTT (p.Tyr196=) c.399+2447_399+2450delinsCTTT (n.399+2447_399+2450delinsCTTT) c.165+2447_165+2450delinsCTTT (n.165+2447_165+2450delinsCTTT) c.648_651delinsCTTT (p.Tyr216=) c.654_657delinsCTTT (p.Tyr218=) c.366_369delinsCTTT (p.Tyr122=) c.*2366_*2369delinsCTTT (n.*2366_*2369delinsCTTT) | |
| 3 | g.15644504_15644505insA | CA541677859 | BTD | c.588_589insA (p.Phe197IlefsTer2) c.399+2447_399+2448insA (n.399+2447_399+2448insA) c.165+2447_165+2448insA (n.165+2447_165+2448insA) c.648_649insA (p.Phe217IlefsTer2) c.654_655insA (p.Phe219IlefsTer2) c.366_367insA (p.Phe123IlefsTer2) c.*2366_*2367insA (n.*2366_*2367insA) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644505T>A | CA351606753 | BTD | c.589T>A (p.Phe197Ile) c.399+2448T>A (n.399+2448T>A) c.165+2448T>A (n.165+2448T>A) c.649T>A (p.Phe217Ile) c.655T>A (p.Phe219Ile) c.367T>A (p.Phe123Ile) c.*2367T>A (n.*2367T>A) | |
| 3 | g.15644505T>C | CA351606754 | BTD | c.589T>C (p.Phe197Leu) c.399+2448T>C (n.399+2448T>C) c.165+2448T>C (n.165+2448T>C) c.649T>C (p.Phe217Leu) c.655T>C (p.Phe219Leu) c.367T>C (p.Phe123Leu) c.*2367T>C (n.*2367T>C) | |
| 3 | g.15644505T>G | CA351606755 | BTD | c.589T>G (p.Phe197Val) c.399+2448T>G (n.399+2448T>G) c.165+2448T>G (n.165+2448T>G) c.649T>G (p.Phe217Val) c.655T>G (p.Phe219Val) c.367T>G (p.Phe123Val) c.*2367T>G (n.*2367T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644505T= | CA1347663878 | BTD | c.589T= (p.Phe197=) c.399+2448T= (n.399+2448T=) c.165+2448T= (n.165+2448T=) c.649T= (p.Phe217=) c.655T= (p.Phe219=) c.367T= (p.Phe123=) c.*2367T= (n.*2367T=) | |
| 3 | g.15644505_15644507delinsAGTA | CA658822116 | BTD | c.589_591delinsAGTA (p.Phe197SerfsTer10) c.399+2448_399+2450delinsAGTA (n.399+2448_399+2450delinsAGTA) c.165+2448_165+2450delinsAGTA (n.165+2448_165+2450delinsAGTA) c.649_651delinsAGTA (p.Phe217SerfsTer10) c.655_657delinsAGTA (p.Phe219SerfsTer10) c.367_369delinsAGTA (p.Phe123SerfsTer10) c.*2367_*2369delinsAGTA (n.*2367_*2369delinsAGTA) | ClinVar dbSNP |
| 3 | g.15644506T>A | CA351606756 | BTD | c.590T>A (p.Phe197Tyr) c.399+2449T>A (n.399+2449T>A) c.165+2449T>A (n.165+2449T>A) c.650T>A (p.Phe217Tyr) c.656T>A (p.Phe219Tyr) c.368T>A (p.Phe123Tyr) c.*2368T>A (n.*2368T>A) | |
| 3 | g.15644506T>C | CA351606757 | BTD | c.590T>C (p.Phe197Ser) c.399+2449T>C (n.399+2449T>C) c.165+2449T>C (n.165+2449T>C) c.650T>C (p.Phe217Ser) c.656T>C (p.Phe219Ser) c.368T>C (p.Phe123Ser) c.*2368T>C (n.*2368T>C) | gnomAD v4 |
| 3 | g.15644506T>G | CA351606758 | BTD | c.590T>G (p.Phe197Cys) c.399+2449T>G (n.399+2449T>G) c.165+2449T>G (n.165+2449T>G) c.650T>G (p.Phe217Cys) c.656T>G (p.Phe219Cys) c.368T>G (p.Phe123Cys) c.*2368T>G (n.*2368T>G) | |
| 3 | g.15644507T>A | CA351606759 | BTD | c.591T>A (p.Phe197Leu) c.399+2450T>A (n.399+2450T>A) c.165+2450T>A (n.165+2450T>A) c.651T>A (p.Phe217Leu) c.657T>A (p.Phe219Leu) c.369T>A (p.Phe123Leu) c.*2369T>A (n.*2369T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644507T>C | CA432819363 | BTD | c.591T>C (p.Phe197=) c.399+2450T>C (n.399+2450T>C) c.165+2450T>C (n.165+2450T>C) c.651T>C (p.Phe217=) c.657T>C (p.Phe219=) c.369T>C (p.Phe123=) c.*2369T>C (n.*2369T>C) | |
| 3 | g.15644507T>G | CA2277355 | BTD | c.591T>G (p.Phe197Leu) c.399+2450T>G (n.399+2450T>G) c.165+2450T>G (n.165+2450T>G) c.651T>G (p.Phe217Leu) c.657T>G (p.Phe219Leu) c.369T>G (p.Phe123Leu) c.*2369T>G (n.*2369T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644507T= | CA1347663882 | BTD | c.591T= (p.Phe197=) c.399+2450T= (n.399+2450T=) c.165+2450T= (n.165+2450T=) c.651T= (p.Phe217=) c.657T= (p.Phe219=) c.369T= (p.Phe123=) c.*2369T= (n.*2369T=) | |
| 3 | g.15644508G>A | CA351606761 | BTD | c.592G>A (p.Glu198Lys) c.399+2451G>A (n.399+2451G>A) c.165+2451G>A (n.165+2451G>A) c.652G>A (p.Glu218Lys) c.658G>A (p.Glu220Lys) c.370G>A (p.Glu124Lys) c.*2370G>A (n.*2370G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644508G>C | CA278245 | BTD | c.592G>C (p.Glu198Gln) c.399+2451G>C (n.399+2451G>C) c.165+2451G>C (n.165+2451G>C) c.652G>C (p.Glu218Gln) c.658G>C (p.Glu220Gln) c.370G>C (p.Glu124Gln) c.*2370G>C (n.*2370G>C) | dbSNP |
| 3 | g.15644508G= | CA1347663889 | BTD | c.592G= (p.Glu198=) c.399+2451G= (n.399+2451G=) c.165+2451G= (n.165+2451G=) c.652G= (p.Glu218=) c.658G= (p.Glu220=) c.370G= (p.Glu124=) c.*2370G= (n.*2370G=) | |
| 3 | g.15644508G>T | CA351606760 | BTD | c.592G>T (p.Glu198Ter) c.399+2451G>T (n.399+2451G>T) c.165+2451G>T (n.165+2451G>T) c.652G>T (p.Glu218Ter) c.658G>T (p.Glu220Ter) c.370G>T (p.Glu124Ter) c.*2370G>T (n.*2370G>T) | |
| 3 | g.15644509A>C | CA351606762 | BTD | c.593A>C (p.Glu198Ala) c.399+2452A>C (n.399+2452A>C) c.165+2452A>C (n.165+2452A>C) c.653A>C (p.Glu218Ala) c.659A>C (p.Glu220Ala) c.371A>C (p.Glu124Ala) c.*2371A>C (n.*2371A>C) | |
| 3 | g.15644509A>G | CA351606764 | BTD | c.593A>G (p.Glu198Gly) c.399+2452A>G (n.399+2452A>G) c.165+2452A>G (n.165+2452A>G) c.653A>G (p.Glu218Gly) c.659A>G (p.Glu220Gly) c.371A>G (p.Glu124Gly) c.*2371A>G (n.*2371A>G) | |
| 3 | g.15644509A>T | CA351606763 | BTD | c.593A>T (p.Glu198Val) c.399+2452A>T (n.399+2452A>T) c.165+2452A>T (n.165+2452A>T) c.653A>T (p.Glu218Val) c.659A>T (p.Glu220Val) c.371A>T (p.Glu124Val) c.*2371A>T (n.*2371A>T) | |
| 3 | g.15644510G>A | CA2277356 | BTD | c.594G>A (p.Glu198=) c.399+2453G>A (n.399+2453G>A) c.165+2453G>A (n.165+2453G>A) c.654G>A (p.Glu218=) c.660G>A (p.Glu220=) c.372G>A (p.Glu124=) c.*2372G>A (n.*2372G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644510G>C | CA278247 | BTD | c.594G>C (p.Glu198Asp) c.399+2453G>C (n.399+2453G>C) c.165+2453G>C (n.165+2453G>C) c.654G>C (p.Glu218Asp) c.660G>C (p.Glu220Asp) c.372G>C (p.Glu124Asp) c.*2372G>C (n.*2372G>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644510G= | CA1347663893 | BTD | c.594G= (p.Glu198=) c.399+2453G= (n.399+2453G=) c.165+2453G= (n.165+2453G=) c.654G= (p.Glu218=) c.660G= (p.Glu220=) c.372G= (p.Glu124=) c.*2372G= (n.*2372G=) | |
| 3 | g.15644510G>T | CA351606765 | BTD | c.594G>T (p.Glu198Asp) c.399+2453G>T (n.399+2453G>T) c.165+2453G>T (n.165+2453G>T) c.654G>T (p.Glu218Asp) c.660G>T (p.Glu220Asp) c.372G>T (p.Glu124Asp) c.*2372G>T (n.*2372G>T) | |
| 3 | g.15644511G>A | CA351606766 | BTD | c.595G>A (p.Ala199Thr) c.399+2454G>A (n.399+2454G>A) c.165+2454G>A (n.165+2454G>A) c.655G>A (p.Ala219Thr) c.661G>A (p.Ala221Thr) c.373G>A (p.Ala125Thr) c.*2373G>A (n.*2373G>A) | |
| 3 | g.15644511G>C | CA351606768 | BTD | c.595G>C (p.Ala199Pro) c.399+2454G>C (n.399+2454G>C) c.165+2454G>C (n.165+2454G>C) c.655G>C (p.Ala219Pro) c.661G>C (p.Ala221Pro) c.373G>C (p.Ala125Pro) c.*2373G>C (n.*2373G>C) | |
| 3 | g.15644511G>T | CA351606767 | BTD | c.595G>T (p.Ala199Ser) c.399+2454G>T (n.399+2454G>T) c.165+2454G>T (n.165+2454G>T) c.655G>T (p.Ala219Ser) c.661G>T (p.Ala221Ser) c.373G>T (p.Ala125Ser) c.*2373G>T (n.*2373G>T) | |
| 3 | g.15644512C>A | CA351606769 | BTD | c.596C>A (p.Ala199Glu) c.399+2455C>A (n.399+2455C>A) c.165+2455C>A (n.165+2455C>A) c.656C>A (p.Ala219Glu) c.662C>A (p.Ala221Glu) c.374C>A (p.Ala125Glu) c.*2374C>A (n.*2374C>A) | |
| 3 | g.15644512C= | CA1347663899 | BTD | c.596C= (p.Ala199=) c.399+2455C= (n.399+2455C=) c.165+2455C= (n.165+2455C=) c.656C= (p.Ala219=) c.662C= (p.Ala221=) c.374C= (p.Ala125=) c.*2374C= (n.*2374C=) | |
| 3 | g.15644512C>G | CA351606771 | BTD | c.596C>G (p.Ala199Gly) c.399+2455C>G (n.399+2455C>G) c.165+2455C>G (n.165+2455C>G) c.656C>G (p.Ala219Gly) c.662C>G (p.Ala221Gly) c.374C>G (p.Ala125Gly) c.*2374C>G (n.*2374C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644512C>T | CA351606770 | BTD | c.596C>T (p.Ala199Val) c.399+2455C>T (n.399+2455C>T) c.165+2455C>T (n.165+2455C>T) c.656C>T (p.Ala219Val) c.662C>T (p.Ala221Val) c.374C>T (p.Ala125Val) c.*2374C>T (n.*2374C>T) | |
| 3 | g.15644513A= | CA1347663902 | BTD | c.597A= (p.Ala199=) c.399+2456A= (n.399+2456A=) c.165+2456A= (n.165+2456A=) c.657A= (p.Ala219=) c.663A= (p.Ala221=) c.375A= (p.Ala125=) c.*2375A= (n.*2375A=) | |
| 3 | g.15644513A>C | CA432819369 | BTD | c.597A>C (p.Ala199=) c.399+2456A>C (n.399+2456A>C) c.165+2456A>C (n.165+2456A>C) c.657A>C (p.Ala219=) c.663A>C (p.Ala221=) c.375A>C (p.Ala125=) c.*2375A>C (n.*2375A>C) | |
| 3 | g.15644513A>G | CA432819370 | BTD | c.597A>G (p.Ala199=) c.399+2456A>G (n.399+2456A>G) c.165+2456A>G (n.165+2456A>G) c.657A>G (p.Ala219=) c.663A>G (p.Ala221=) c.375A>G (p.Ala125=) c.*2375A>G (n.*2375A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644513A>T | CA432819371 | BTD | c.597A>T (p.Ala199=) c.399+2456A>T (n.399+2456A>T) c.165+2456A>T (n.165+2456A>T) c.657A>T (p.Ala219=) c.663A>T (p.Ala221=) c.375A>T (p.Ala125=) c.*2375A>T (n.*2375A>T) | |
| 3 | g.15644514G>A | CA351606772 | BTD | c.598G>A (p.Ala200Thr) c.399+2457G>A (n.399+2457G>A) c.165+2457G>A (n.165+2457G>A) c.658G>A (p.Ala220Thr) c.664G>A (p.Ala222Thr) c.376G>A (p.Ala126Thr) c.*2376G>A (n.*2376G>A) | |
| 3 | g.15644514G>C | CA351606773 | BTD | c.598G>C (p.Ala200Pro) c.399+2457G>C (n.399+2457G>C) c.165+2457G>C (n.165+2457G>C) c.658G>C (p.Ala220Pro) c.664G>C (p.Ala222Pro) c.376G>C (p.Ala126Pro) c.*2376G>C (n.*2376G>C) | |
| 3 | g.15644514G>T | CA351606774 | BTD | c.598G>T (p.Ala200Ser) c.399+2457G>T (n.399+2457G>T) c.165+2457G>T (n.165+2457G>T) c.658G>T (p.Ala220Ser) c.664G>T (p.Ala222Ser) c.376G>T (p.Ala126Ser) c.*2376G>T (n.*2376G>T) | |
| 3 | g.15644515C>A | CA351606775 | BTD | c.599C>A (p.Ala200Glu) c.399+2458C>A (n.399+2458C>A) c.165+2458C>A (n.165+2458C>A) c.659C>A (p.Ala220Glu) c.665C>A (p.Ala222Glu) c.377C>A (p.Ala126Glu) c.*2377C>A (n.*2377C>A) | gnomAD v4 |
| 3 | g.15644515C>G | CA351606776 | BTD | c.599C>G (p.Ala200Gly) c.399+2458C>G (n.399+2458C>G) c.165+2458C>G (n.165+2458C>G) c.659C>G (p.Ala220Gly) c.665C>G (p.Ala222Gly) c.377C>G (p.Ala126Gly) c.*2377C>G (n.*2377C>G) | |
| 3 | g.15644515C>T | CA351606777 | BTD | c.599C>T (p.Ala200Val) c.399+2458C>T (n.399+2458C>T) c.165+2458C>T (n.165+2458C>T) c.659C>T (p.Ala220Val) c.665C>T (p.Ala222Val) c.377C>T (p.Ala126Val) c.*2377C>T (n.*2377C>T) | |
| 3 | g.15644516A= | CA1347663906 | BTD | c.600A= (p.Ala200=) c.399+2459A= (n.399+2459A=) c.165+2459A= (n.165+2459A=) c.660A= (p.Ala220=) c.666A= (p.Ala222=) c.378A= (p.Ala126=) c.*2378A= (n.*2378A=) | |
| 3 | g.15644516A>C | CA432819375 | BTD | c.600A>C (p.Ala200=) c.399+2459A>C (n.399+2459A>C) c.165+2459A>C (n.165+2459A>C) c.660A>C (p.Ala220=) c.666A>C (p.Ala222=) c.378A>C (p.Ala126=) c.*2378A>C (n.*2378A>C) | |
| 3 | g.15644516A>G | CA2277357 | BTD | c.600A>G (p.Ala200=) c.399+2459A>G (n.399+2459A>G) c.165+2459A>G (n.165+2459A>G) c.660A>G (p.Ala220=) c.666A>G (p.Ala222=) c.378A>G (p.Ala126=) c.*2378A>G (n.*2378A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644516A>T | CA432819376 | BTD | c.600A>T (p.Ala200=) c.399+2459A>T (n.399+2459A>T) c.165+2459A>T (n.165+2459A>T) c.660A>T (p.Ala220=) c.666A>T (p.Ala222=) c.378A>T (p.Ala126=) c.*2378A>T (n.*2378A>T) | |
| 3 | g.15644517T>A | CA351606778 | BTD | c.601T>A (p.Phe201Ile) c.399+2460T>A (n.399+2460T>A) c.165+2460T>A (n.165+2460T>A) c.661T>A (p.Phe221Ile) c.667T>A (p.Phe223Ile) c.379T>A (p.Phe127Ile) c.*2379T>A (n.*2379T>A) | |
| 3 | g.15644517T>C | CA351606779 | BTD | c.601T>C (p.Phe201Leu) c.399+2460T>C (n.399+2460T>C) c.165+2460T>C (n.165+2460T>C) c.661T>C (p.Phe221Leu) c.667T>C (p.Phe223Leu) c.379T>C (p.Phe127Leu) c.*2379T>C (n.*2379T>C) | |
| 3 | g.15644517T>G | CA351606780 | BTD | c.601T>G (p.Phe201Val) c.399+2460T>G (n.399+2460T>G) c.165+2460T>G (n.165+2460T>G) c.661T>G (p.Phe221Val) c.667T>G (p.Phe223Val) c.379T>G (p.Phe127Val) c.*2379T>G (n.*2379T>G) | |
| 3 | g.15644518T>A | CA351606781 | BTD | c.602T>A (p.Phe201Tyr) c.399+2461T>A (n.399+2461T>A) c.165+2461T>A (n.165+2461T>A) c.662T>A (p.Phe221Tyr) c.668T>A (p.Phe223Tyr) c.380T>A (p.Phe127Tyr) c.*2380T>A (n.*2380T>A) | |
| 3 | g.15644518T>C | CA351606782 | BTD | c.602T>C (p.Phe201Ser) c.399+2461T>C (n.399+2461T>C) c.165+2461T>C (n.165+2461T>C) c.662T>C (p.Phe221Ser) c.668T>C (p.Phe223Ser) c.380T>C (p.Phe127Ser) c.*2380T>C (n.*2380T>C) | |
| 3 | g.15644518T>G | CA351606783 | BTD | c.602T>G (p.Phe201Cys) c.399+2461T>G (n.399+2461T>G) c.165+2461T>G (n.165+2461T>G) c.662T>G (p.Phe221Cys) c.668T>G (p.Phe223Cys) c.380T>G (p.Phe127Cys) c.*2380T>G (n.*2380T>G) | |
| 3 | g.15644519C>A | CA351606785 | BTD | c.603C>A (p.Phe201Leu) c.399+2462C>A (n.399+2462C>A) c.165+2462C>A (n.165+2462C>A) c.663C>A (p.Phe221Leu) c.669C>A (p.Phe223Leu) c.381C>A (p.Phe127Leu) c.*2381C>A (n.*2381C>A) | |
| 3 | g.15644519C= | CA1347663910 | BTD | c.603C= (p.Phe201=) c.399+2462C= (n.399+2462C=) c.165+2462C= (n.165+2462C=) c.663C= (p.Phe221=) c.669C= (p.Phe223=) c.381C= (p.Phe127=) c.*2381C= (n.*2381C=) | |
| 3 | g.15644519C>G | CA351606784 | BTD | c.603C>G (p.Phe201Leu) c.399+2462C>G (n.399+2462C>G) c.165+2462C>G (n.165+2462C>G) c.663C>G (p.Phe221Leu) c.669C>G (p.Phe223Leu) c.381C>G (p.Phe127Leu) c.*2381C>G (n.*2381C>G) | |
| 3 | g.15644519C>T | CA2277358 | BTD | c.603C>T (p.Phe201=) c.399+2462C>T (n.399+2462C>T) c.165+2462C>T (n.165+2462C>T) c.663C>T (p.Phe221=) c.669C>T (p.Phe223=) c.381C>T (p.Phe127=) c.*2381C>T (n.*2381C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644520G>A | CA2277359 | BTD | c.604G>A (p.Asp202Asn) c.399+2463G>A (n.399+2463G>A) c.165+2463G>A (n.165+2463G>A) c.664G>A (p.Asp222Asn) c.670G>A (p.Asp224Asn) c.382G>A (p.Asp128Asn) c.*2382G>A (n.*2382G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644520G>C | CA278366 | BTD | c.604G>C (p.Asp202His) c.399+2463G>C (n.399+2463G>C) c.165+2463G>C (n.165+2463G>C) c.664G>C (p.Asp222His) c.670G>C (p.Asp224His) c.382G>C (p.Asp128His) c.*2382G>C (n.*2382G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644520G= | CA1347663920 | BTD | c.604G= (p.Asp202=) c.399+2463G= (n.399+2463G=) c.165+2463G= (n.165+2463G=) c.664G= (p.Asp222=) c.670G= (p.Asp224=) c.382G= (p.Asp128=) c.*2382G= (n.*2382G=) | |
| 3 | g.15644520G>T | CA351606786 | BTD | c.604G>T (p.Asp202Tyr) c.399+2463G>T (n.399+2463G>T) c.165+2463G>T (n.165+2463G>T) c.664G>T (p.Asp222Tyr) c.670G>T (p.Asp224Tyr) c.382G>T (p.Asp128Tyr) c.*2382G>T (n.*2382G>T) | |
| 3 | g.15644521A= | CA1347663928 | BTD | c.605A= (p.Asp202=) c.399+2464A= (n.399+2464A=) c.165+2464A= (n.165+2464A=) c.665A= (p.Asp222=) c.671A= (p.Asp224=) c.383A= (p.Asp128=) c.*2383A= (n.*2383A=) | |
| 3 | g.15644521A>C | CA351606787 | BTD | c.605A>C (p.Asp202Ala) c.399+2464A>C (n.399+2464A>C) c.165+2464A>C (n.165+2464A>C) c.665A>C (p.Asp222Ala) c.671A>C (p.Asp224Ala) c.383A>C (p.Asp128Ala) c.*2383A>C (n.*2383A>C) | |
| 3 | g.15644521A>G | CA351606788 | BTD | c.605A>G (p.Asp202Gly) c.399+2464A>G (n.399+2464A>G) c.165+2464A>G (n.165+2464A>G) c.665A>G (p.Asp222Gly) c.671A>G (p.Asp224Gly) c.383A>G (p.Asp128Gly) c.*2383A>G (n.*2383A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644521A>T | CA351606789 | BTD | c.605A>T (p.Asp202Val) c.399+2464A>T (n.399+2464A>T) c.165+2464A>T (n.165+2464A>T) c.665A>T (p.Asp222Val) c.671A>T (p.Asp224Val) c.383A>T (p.Asp128Val) c.*2383A>T (n.*2383A>T) | |
| 3 | g.15644522T>A | CA351606790 | BTD | c.606T>A (p.Asp202Glu) c.399+2465T>A (n.399+2465T>A) c.165+2465T>A (n.165+2465T>A) c.666T>A (p.Asp222Glu) c.672T>A (p.Asp224Glu) c.384T>A (p.Asp128Glu) c.*2384T>A (n.*2384T>A) | ClinVar |
| 3 | g.15644522T>C | CA432819377 | BTD | c.606T>C (p.Asp202=) c.399+2465T>C (n.399+2465T>C) c.165+2465T>C (n.165+2465T>C) c.666T>C (p.Asp222=) c.672T>C (p.Asp224=) c.384T>C (p.Asp128=) c.*2384T>C (n.*2384T>C) | dbSNP |
| 3 | g.15644522T>G | CA351606791 | BTD | c.606T>G (p.Asp202Glu) c.399+2465T>G (n.399+2465T>G) c.165+2465T>G (n.165+2465T>G) c.666T>G (p.Asp222Glu) c.672T>G (p.Asp224Glu) c.384T>G (p.Asp128Glu) c.*2384T>G (n.*2384T>G) | |
| 3 | g.15644522T= | CA1347663930 | BTD | c.606T= (p.Asp202=) c.399+2465T= (n.399+2465T=) c.165+2465T= (n.165+2465T=) c.666T= (p.Asp222=) c.672T= (p.Asp224=) c.384T= (p.Asp128=) c.*2384T= (n.*2384T=) | |
| 3 | g.15644523G>A | CA351606792 | BTD | c.607G>A (p.Val203Ile) c.399+2466G>A (n.399+2466G>A) c.165+2466G>A (n.165+2466G>A) c.667G>A (p.Val223Ile) c.673G>A (p.Val225Ile) c.385G>A (p.Val129Ile) c.*2385G>A (n.*2385G>A) | gnomAD v4 |
| 3 | g.15644523G>C | CA351606793 | BTD | c.607G>C (p.Val203Leu) c.399+2466G>C (n.399+2466G>C) c.165+2466G>C (n.165+2466G>C) c.667G>C (p.Val223Leu) c.673G>C (p.Val225Leu) c.385G>C (p.Val129Leu) c.*2385G>C (n.*2385G>C) | |
| 3 | g.15644523G>T | CA351606794 | BTD | c.607G>T (p.Val203Phe) c.399+2466G>T (n.399+2466G>T) c.165+2466G>T (n.165+2466G>T) c.667G>T (p.Val223Phe) c.673G>T (p.Val225Phe) c.385G>T (p.Val129Phe) c.*2385G>T (n.*2385G>T) | |
| 3 | g.15644524T>A | CA351606795 | BTD | c.608T>A (p.Val203Asp) c.399+2467T>A (n.399+2467T>A) c.165+2467T>A (n.165+2467T>A) c.668T>A (p.Val223Asp) c.674T>A (p.Val225Asp) c.386T>A (p.Val129Asp) c.*2386T>A (n.*2386T>A) | |
| 3 | g.15644524T>C | CA351606796 | BTD | c.608T>C (p.Val203Ala) c.399+2467T>C (n.399+2467T>C) c.165+2467T>C (n.165+2467T>C) c.668T>C (p.Val223Ala) c.674T>C (p.Val225Ala) c.386T>C (p.Val129Ala) c.*2386T>C (n.*2386T>C) | |
| 3 | g.15644524T>G | CA351606797 | BTD | c.608T>G (p.Val203Gly) c.399+2467T>G (n.399+2467T>G) c.165+2467T>G (n.165+2467T>G) c.668T>G (p.Val223Gly) c.674T>G (p.Val225Gly) c.386T>G (p.Val129Gly) c.*2386T>G (n.*2386T>G) | |
| 3 | g.15644525T>A | CA432819379 | BTD | c.609T>A (p.Val203=) c.399+2468T>A (n.399+2468T>A) c.165+2468T>A (n.165+2468T>A) c.669T>A (p.Val223=) c.675T>A (p.Val225=) c.387T>A (p.Val129=) c.*2387T>A (n.*2387T>A) | |
| 3 | g.15644525T>C | CA432819381 | BTD | c.609T>C (p.Val203=) c.399+2468T>C (n.399+2468T>C) c.165+2468T>C (n.165+2468T>C) c.669T>C (p.Val223=) c.675T>C (p.Val225=) c.387T>C (p.Val129=) c.*2387T>C (n.*2387T>C) | COSMIC |
| 3 | g.15644525T>G | CA432819380 | BTD | c.609T>G (p.Val203=) c.399+2468T>G (n.399+2468T>G) c.165+2468T>G (n.165+2468T>G) c.669T>G (p.Val223=) c.675T>G (p.Val225=) c.387T>G (p.Val129=) c.*2387T>G (n.*2387T>G) | |
| 3 | g.15644526C>A | CA351606799 | BTD | c.610C>A (p.Pro204Thr) c.399+2469C>A (n.399+2469C>A) c.165+2469C>A (n.165+2469C>A) c.670C>A (p.Pro224Thr) c.676C>A (p.Pro226Thr) c.388C>A (p.Pro130Thr) c.*2388C>A (n.*2388C>A) | |
| 3 | g.15644526C= | CA1347663932 | BTD | c.610C= (p.Pro204=) c.399+2469C= (n.399+2469C=) c.165+2469C= (n.165+2469C=) c.670C= (p.Pro224=) c.676C= (p.Pro226=) c.388C= (p.Pro130=) c.*2388C= (n.*2388C=) | |
| 3 | g.15644526C>G | CA70621853 | BTD | c.610C>G (p.Pro204Ala) c.399+2469C>G (n.399+2469C>G) c.165+2469C>G (n.165+2469C>G) c.670C>G (p.Pro224Ala) c.676C>G (p.Pro226Ala) c.388C>G (p.Pro130Ala) c.*2388C>G (n.*2388C>G) | dbSNP gnomAD v4 |
| 3 | g.15644526C>T | CA351606798 | BTD | c.610C>T (p.Pro204Ser) c.399+2469C>T (n.399+2469C>T) c.165+2469C>T (n.165+2469C>T) c.670C>T (p.Pro224Ser) c.676C>T (p.Pro226Ser) c.388C>T (p.Pro130Ser) c.*2388C>T (n.*2388C>T) | gnomAD v4 |
| 3 | g.15644527C>A | CA351606800 | BTD | c.611C>A (p.Pro204His) c.399+2470C>A (n.399+2470C>A) c.165+2470C>A (n.165+2470C>A) c.671C>A (p.Pro224His) c.677C>A (p.Pro226His) c.389C>A (p.Pro130His) c.*2389C>A (n.*2389C>A) | |
| 3 | g.15644527C>G | CA351606801 | BTD | c.611C>G (p.Pro204Arg) c.399+2470C>G (n.399+2470C>G) c.165+2470C>G (n.165+2470C>G) c.671C>G (p.Pro224Arg) c.677C>G (p.Pro226Arg) c.389C>G (p.Pro130Arg) c.*2389C>G (n.*2389C>G) | |
| 3 | g.15644527C>T | CA351606802 | BTD | c.611C>T (p.Pro204Leu) c.399+2470C>T (n.399+2470C>T) c.165+2470C>T (n.165+2470C>T) c.671C>T (p.Pro224Leu) c.677C>T (p.Pro226Leu) c.389C>T (p.Pro130Leu) c.*2389C>T (n.*2389C>T) | |
| 3 | g.15644528T>A | CA432819383 | BTD | c.612T>A (p.Pro204=) c.399+2471T>A (n.399+2471T>A) c.165+2471T>A (n.165+2471T>A) c.672T>A (p.Pro224=) c.678T>A (p.Pro226=) c.390T>A (p.Pro130=) c.*2390T>A (n.*2390T>A) | gnomAD v4 |
| 3 | g.15644528T>C | CA432819384 | BTD | c.612T>C (p.Pro204=) c.399+2471T>C (n.399+2471T>C) c.165+2471T>C (n.165+2471T>C) c.672T>C (p.Pro224=) c.678T>C (p.Pro226=) c.390T>C (p.Pro130=) c.*2390T>C (n.*2390T>C) | gnomAD v4 |
| 3 | g.15644528T>G | CA432819385 | BTD | c.612T>G (p.Pro204=) c.399+2471T>G (n.399+2471T>G) c.165+2471T>G (n.165+2471T>G) c.672T>G (p.Pro224=) c.678T>G (p.Pro226=) c.390T>G (p.Pro130=) c.*2390T>G (n.*2390T>G) | |
| 3 | g.15644529C>A | CA351606803 | BTD | c.613C>A (p.Leu205Ile) c.399+2472C>A (n.399+2472C>A) c.165+2472C>A (n.165+2472C>A) c.673C>A (p.Leu225Ile) c.679C>A (p.Leu227Ile) c.391C>A (p.Leu131Ile) c.*2391C>A (n.*2391C>A) | |
| 3 | g.15644529C>G | CA351606804 | BTD | c.613C>G (p.Leu205Val) c.399+2472C>G (n.399+2472C>G) c.165+2472C>G (n.165+2472C>G) c.673C>G (p.Leu225Val) c.679C>G (p.Leu227Val) c.391C>G (p.Leu131Val) c.*2391C>G (n.*2391C>G) | |
| 3 | g.15644529C>T | CA351606805 | BTD | c.613C>T (p.Leu205Phe) c.399+2472C>T (n.399+2472C>T) c.165+2472C>T (n.165+2472C>T) c.673C>T (p.Leu225Phe) c.679C>T (p.Leu227Phe) c.391C>T (p.Leu131Phe) c.*2391C>T (n.*2391C>T) | gnomAD v4 |
| 3 | g.15644530T>A | CA351606806 | BTD | c.614T>A (p.Leu205His) c.399+2473T>A (n.399+2473T>A) c.165+2473T>A (n.165+2473T>A) c.674T>A (p.Leu225His) c.680T>A (p.Leu227His) c.392T>A (p.Leu131His) c.*2392T>A (n.*2392T>A) | |
| 3 | g.15644530T>C | CA351606807 | BTD | c.614T>C (p.Leu205Pro) c.399+2473T>C (n.399+2473T>C) c.165+2473T>C (n.165+2473T>C) c.674T>C (p.Leu225Pro) c.680T>C (p.Leu227Pro) c.392T>C (p.Leu131Pro) c.*2392T>C (n.*2392T>C) | |
| 3 | g.15644530T>G | CA351606808 | BTD | c.614T>G (p.Leu205Arg) c.399+2473T>G (n.399+2473T>G) c.165+2473T>G (n.165+2473T>G) c.674T>G (p.Leu225Arg) c.680T>G (p.Leu227Arg) c.392T>G (p.Leu131Arg) c.*2392T>G (n.*2392T>G) | |
| 3 | g.15644531T>A | CA432819390 | BTD | c.615T>A (p.Leu205=) c.399+2474T>A (n.399+2474T>A) c.165+2474T>A (n.165+2474T>A) c.675T>A (p.Leu225=) c.681T>A (p.Leu227=) c.393T>A (p.Leu131=) c.*2393T>A (n.*2393T>A) | |
| 3 | g.15644531T>C | CA432819387 | BTD | c.615T>C (p.Leu205=) c.399+2474T>C (n.399+2474T>C) c.165+2474T>C (n.165+2474T>C) c.675T>C (p.Leu225=) c.681T>C (p.Leu227=) c.393T>C (p.Leu131=) c.*2393T>C (n.*2393T>C) | |
| 3 | g.15644531T>G | CA432819388 | BTD | c.615T>G (p.Leu205=) c.399+2474T>G (n.399+2474T>G) c.165+2474T>G (n.165+2474T>G) c.675T>G (p.Leu225=) c.681T>G (p.Leu227=) c.393T>G (p.Leu131=) c.*2393T>G (n.*2393T>G) | |
| 3 | g.15644532A= | CA1347663938 | BTD | c.616A= (p.Lys206=) c.399+2475A= (n.399+2475A=) c.165+2475A= (n.165+2475A=) c.676A= (p.Lys226=) c.682A= (p.Lys228=) c.394A= (p.Lys132=) c.*2394A= (n.*2394A=) | |
| 3 | g.15644532A>C | CA351606809 | BTD | c.616A>C (p.Lys206Gln) c.399+2475A>C (n.399+2475A>C) c.165+2475A>C (n.165+2475A>C) c.676A>C (p.Lys226Gln) c.682A>C (p.Lys228Gln) c.394A>C (p.Lys132Gln) c.*2394A>C (n.*2394A>C) | |
| 3 | g.15644532A>G | CA70621861 | BTD | c.616A>G (p.Lys206Glu) c.399+2475A>G (n.399+2475A>G) c.165+2475A>G (n.165+2475A>G) c.676A>G (p.Lys226Glu) c.682A>G (p.Lys228Glu) c.394A>G (p.Lys132Glu) c.*2394A>G (n.*2394A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644532A>T | CA351606810 | BTD | c.616A>T (p.Lys206Ter) c.399+2475A>T (n.399+2475A>T) c.165+2475A>T (n.165+2475A>T) c.676A>T (p.Lys226Ter) c.682A>T (p.Lys228Ter) c.394A>T (p.Lys132Ter) c.*2394A>T (n.*2394A>T) | |
| 3 | g.15644533A>C | CA351606813 | BTD | c.617A>C (p.Lys206Thr) c.399+2476A>C (n.399+2476A>C) c.165+2476A>C (n.165+2476A>C) c.677A>C (p.Lys226Thr) c.683A>C (p.Lys228Thr) c.395A>C (p.Lys132Thr) c.*2395A>C (n.*2395A>C) | |
| 3 | g.15644533A>G | CA351606811 | BTD | c.617A>G (p.Lys206Arg) c.399+2476A>G (n.399+2476A>G) c.165+2476A>G (n.165+2476A>G) c.677A>G (p.Lys226Arg) c.683A>G (p.Lys228Arg) c.395A>G (p.Lys132Arg) c.*2395A>G (n.*2395A>G) | |
| 3 | g.15644533A>T | CA351606812 | BTD | c.617A>T (p.Lys206Ile) c.399+2476A>T (n.399+2476A>T) c.165+2476A>T (n.165+2476A>T) c.677A>T (p.Lys226Ile) c.683A>T (p.Lys228Ile) c.395A>T (p.Lys132Ile) c.*2395A>T (n.*2395A>T) | |
| 3 | g.15644534A>C | CA351606814 | BTD | c.618A>C (p.Lys206Asn) c.399+2477A>C (n.399+2477A>C) c.165+2477A>C (n.165+2477A>C) c.678A>C (p.Lys226Asn) c.684A>C (p.Lys228Asn) c.396A>C (p.Lys132Asn) c.*2396A>C (n.*2396A>C) | |
| 3 | g.15644534A>G | CA432819393 | BTD | c.618A>G (p.Lys206=) c.399+2477A>G (n.399+2477A>G) c.165+2477A>G (n.165+2477A>G) c.678A>G (p.Lys226=) c.684A>G (p.Lys228=) c.396A>G (p.Lys132=) c.*2396A>G (n.*2396A>G) | |
| 3 | g.15644534A>T | CA351606815 | BTD | c.618A>T (p.Lys206Asn) c.399+2477A>T (n.399+2477A>T) c.165+2477A>T (n.165+2477A>T) c.678A>T (p.Lys226Asn) c.684A>T (p.Lys228Asn) c.396A>T (p.Lys132Asn) c.*2396A>T (n.*2396A>T) | |
| 3 | g.15644535G>A | CA351606816 | BTD | c.619G>A (p.Val207Met) c.399+2478G>A (n.399+2478G>A) c.165+2478G>A (n.165+2478G>A) c.679G>A (p.Val227Met) c.685G>A (p.Val229Met) c.397G>A (p.Val133Met) c.*2397G>A (n.*2397G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644535G>C | CA351606817 | BTD | c.619G>C (p.Val207Leu) c.399+2478G>C (n.399+2478G>C) c.165+2478G>C (n.165+2478G>C) c.679G>C (p.Val227Leu) c.685G>C (p.Val229Leu) c.397G>C (p.Val133Leu) c.*2397G>C (n.*2397G>C) | |
| 3 | g.15644535G= | CA1347663942 | BTD | c.619G= (p.Val207=) c.399+2478G= (n.399+2478G=) c.165+2478G= (n.165+2478G=) c.679G= (p.Val227=) c.685G= (p.Val229=) c.397G= (p.Val133=) c.*2397G= (n.*2397G=) | |
| 3 | g.15644535G>T | CA351606818 | BTD | c.619G>T (p.Val207Leu) c.399+2478G>T (n.399+2478G>T) c.165+2478G>T (n.165+2478G>T) c.679G>T (p.Val227Leu) c.685G>T (p.Val229Leu) c.397G>T (p.Val133Leu) c.*2397G>T (n.*2397G>T) | |
| 3 | g.15644536T>A | CA351606819 | BTD | c.620T>A (p.Val207Glu) c.399+2479T>A (n.399+2479T>A) c.165+2479T>A (n.165+2479T>A) c.680T>A (p.Val227Glu) c.686T>A (p.Val229Glu) c.398T>A (p.Val133Glu) c.*2398T>A (n.*2398T>A) | |
| 3 | g.15644536T>C | CA351606820 | BTD | c.620T>C (p.Val207Ala) c.399+2479T>C (n.399+2479T>C) c.165+2479T>C (n.165+2479T>C) c.680T>C (p.Val227Ala) c.686T>C (p.Val229Ala) c.398T>C (p.Val133Ala) c.*2398T>C (n.*2398T>C) | |
| 3 | g.15644536T>G | CA351606821 | BTD | c.620T>G (p.Val207Gly) c.399+2479T>G (n.399+2479T>G) c.165+2479T>G (n.165+2479T>G) c.680T>G (p.Val227Gly) c.686T>G (p.Val229Gly) c.398T>G (p.Val133Gly) c.*2398T>G (n.*2398T>G) | |
| 3 | g.15644537G>A | CA70621866 | BTD | c.621G>A (p.Val207=) c.399+2480G>A (n.399+2480G>A) c.165+2480G>A (n.165+2480G>A) c.681G>A (p.Val227=) c.687G>A (p.Val229=) c.399G>A (p.Val133=) c.*2399G>A (n.*2399G>A) | dbSNP |
| 3 | g.15644537G>C | CA432819396 | BTD | c.621G>C (p.Val207=) c.399+2480G>C (n.399+2480G>C) c.165+2480G>C (n.165+2480G>C) c.681G>C (p.Val227=) c.687G>C (p.Val229=) c.399G>C (p.Val133=) c.*2399G>C (n.*2399G>C) | |
| 3 | g.15644537G= | CA1347663944 | BTD | c.621G= (p.Val207=) c.399+2480G= (n.399+2480G=) c.165+2480G= (n.165+2480G=) c.681G= (p.Val227=) c.687G= (p.Val229=) c.399G= (p.Val133=) c.*2399G= (n.*2399G=) | |
| 3 | g.15644537G>T | CA432819398 | BTD | c.621G>T (p.Val207=) c.399+2480G>T (n.399+2480G>T) c.165+2480G>T (n.165+2480G>T) c.681G>T (p.Val227=) c.687G>T (p.Val229=) c.399G>T (p.Val133=) c.*2399G>T (n.*2399G>T) | |
| 3 | g.15644538G>A | CA351606822 | BTD | c.622G>A (p.Asp208Asn) c.399+2481G>A (n.399+2481G>A) c.165+2481G>A (n.165+2481G>A) c.682G>A (p.Asp228Asn) c.688G>A (p.Asp230Asn) c.400G>A (p.Asp134Asn) c.*2400G>A (n.*2400G>A) | |
| 3 | g.15644538G>C | CA351606823 | BTD | c.622G>C (p.Asp208His) c.399+2481G>C (n.399+2481G>C) c.165+2481G>C (n.165+2481G>C) c.682G>C (p.Asp228His) c.688G>C (p.Asp230His) c.400G>C (p.Asp134His) c.*2400G>C (n.*2400G>C) | COSMIC |
| 3 | g.15644538G= | CA1347663952 | BTD | c.622G= (p.Asp208=) c.399+2481G= (n.399+2481G=) c.165+2481G= (n.165+2481G=) c.682G= (p.Asp228=) c.688G= (p.Asp230=) c.400G= (p.Asp134=) c.*2400G= (n.*2400G=) | |
| 3 | g.15644538G>T | CA278249 | BTD | c.622G>T (p.Asp208Tyr) c.399+2481G>T (n.399+2481G>T) c.165+2481G>T (n.165+2481G>T) c.682G>T (p.Asp228Tyr) c.688G>T (p.Asp230Tyr) c.400G>T (p.Asp134Tyr) c.*2400G>T (n.*2400G>T) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.15644539A= | CA1347663957 | BTD | c.623A= (p.Asp208=) c.399+2482A= (n.399+2482A=) c.165+2482A= (n.165+2482A=) c.683A= (p.Asp228=) c.689A= (p.Asp230=) c.401A= (p.Asp134=) c.*2401A= (n.*2401A=) | |
| 3 | g.15644539A>C | CA351606824 | BTD | c.623A>C (p.Asp208Ala) c.399+2482A>C (n.399+2482A>C) c.165+2482A>C (n.165+2482A>C) c.683A>C (p.Asp228Ala) c.689A>C (p.Asp230Ala) c.401A>C (p.Asp134Ala) c.*2401A>C (n.*2401A>C) | |
| 3 | g.15644539A>G | CA278437 | BTD | c.623A>G (p.Asp208Gly) c.399+2482A>G (n.399+2482A>G) c.165+2482A>G (n.165+2482A>G) c.683A>G (p.Asp228Gly) c.689A>G (p.Asp230Gly) c.401A>G (p.Asp134Gly) c.*2401A>G (n.*2401A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644539A>T | CA351606825 | BTD | c.623A>T (p.Asp208Val) c.399+2482A>T (n.399+2482A>T) c.165+2482A>T (n.165+2482A>T) c.683A>T (p.Asp228Val) c.689A>T (p.Asp230Val) c.401A>T (p.Asp134Val) c.*2401A>T (n.*2401A>T) | gnomAD v4 |
| 3 | g.15644540T>A | CA351606826 | BTD | c.624T>A (p.Asp208Glu) c.399+2483T>A (n.399+2483T>A) c.165+2483T>A (n.165+2483T>A) c.684T>A (p.Asp228Glu) c.690T>A (p.Asp230Glu) c.402T>A (p.Asp134Glu) c.*2402T>A (n.*2402T>A) | |
| 3 | g.15644540T>C | CA2277360 | BTD | c.624T>C (p.Asp208=) c.399+2483T>C (n.399+2483T>C) c.165+2483T>C (n.165+2483T>C) c.684T>C (p.Asp228=) c.690T>C (p.Asp230=) c.402T>C (p.Asp134=) c.*2402T>C (n.*2402T>C) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.15644540T>G | CA351606827 | BTD | c.624T>G (p.Asp208Glu) c.399+2483T>G (n.399+2483T>G) c.165+2483T>G (n.165+2483T>G) c.684T>G (p.Asp228Glu) c.690T>G (p.Asp230Glu) c.402T>G (p.Asp134Glu) c.*2402T>G (n.*2402T>G) | |
| 3 | g.15644540T= | CA1347663961 | BTD | c.624T= (p.Asp208=) c.399+2483T= (n.399+2483T=) c.165+2483T= (n.165+2483T=) c.684T= (p.Asp228=) c.690T= (p.Asp230=) c.402T= (p.Asp134=) c.*2402T= (n.*2402T=) | |
| 3 | g.15644541C>A | CA351606828 | BTD | c.625C>A (p.Leu209Ile) c.399+2484C>A (n.399+2484C>A) c.165+2484C>A (n.165+2484C>A) c.685C>A (p.Leu229Ile) c.691C>A (p.Leu231Ile) c.403C>A (p.Leu135Ile) c.*2403C>A (n.*2403C>A) | |
| 3 | g.15644541C>G | CA351606829 | BTD | c.625C>G (p.Leu209Val) c.399+2484C>G (n.399+2484C>G) c.165+2484C>G (n.165+2484C>G) c.685C>G (p.Leu229Val) c.691C>G (p.Leu231Val) c.403C>G (p.Leu135Val) c.*2403C>G (n.*2403C>G) | |
| 3 | g.15644541C>T | CA351606830 | BTD | c.625C>T (p.Leu209Phe) c.399+2484C>T (n.399+2484C>T) c.165+2484C>T (n.165+2484C>T) c.685C>T (p.Leu229Phe) c.691C>T (p.Leu231Phe) c.403C>T (p.Leu135Phe) c.*2403C>T (n.*2403C>T) | |
| 3 | g.15644542T>A | CA351606831 | BTD | c.626T>A (p.Leu209His) c.399+2485T>A (n.399+2485T>A) c.165+2485T>A (n.165+2485T>A) c.686T>A (p.Leu229His) c.692T>A (p.Leu231His) c.404T>A (p.Leu135His) c.*2404T>A (n.*2404T>A) | |
| 3 | g.15644542T>C | CA351606832 | BTD | c.626T>C (p.Leu209Pro) c.399+2485T>C (n.399+2485T>C) c.165+2485T>C (n.165+2485T>C) c.686T>C (p.Leu229Pro) c.692T>C (p.Leu231Pro) c.404T>C (p.Leu135Pro) c.*2404T>C (n.*2404T>C) | gnomAD v4 |
| 3 | g.15644542T>G | CA351606833 | BTD | c.626T>G (p.Leu209Arg) c.399+2485T>G (n.399+2485T>G) c.165+2485T>G (n.165+2485T>G) c.686T>G (p.Leu229Arg) c.692T>G (p.Leu231Arg) c.404T>G (p.Leu135Arg) c.*2404T>G (n.*2404T>G) | |
| 3 | g.15644543C>A | CA432819405 | BTD | c.627C>A (p.Leu209=) c.399+2486C>A (n.399+2486C>A) c.165+2486C>A (n.165+2486C>A) c.687C>A (p.Leu229=) c.693C>A (p.Leu231=) c.405C>A (p.Leu135=) c.*2405C>A (n.*2405C>A) | |
| 3 | g.15644543C>G | CA432819407 | BTD | c.627C>G (p.Leu209=) c.399+2486C>G (n.399+2486C>G) c.165+2486C>G (n.165+2486C>G) c.687C>G (p.Leu229=) c.693C>G (p.Leu231=) c.405C>G (p.Leu135=) c.*2405C>G (n.*2405C>G) | |
| 3 | g.15644543C>T | CA432819410 | BTD | c.627C>T (p.Leu209=) c.399+2486C>T (n.399+2486C>T) c.165+2486C>T (n.165+2486C>T) c.687C>T (p.Leu229=) c.693C>T (p.Leu231=) c.405C>T (p.Leu135=) c.*2405C>T (n.*2405C>T) | |
| 3 | g.15644544A>C | CA351606834 | BTD | c.628A>C (p.Ile210Leu) c.399+2487A>C (n.399+2487A>C) c.165+2487A>C (n.165+2487A>C) c.688A>C (p.Ile230Leu) c.694A>C (p.Ile232Leu) c.406A>C (p.Ile136Leu) c.*2406A>C (n.*2406A>C) | gnomAD v4 |
| 3 | g.15644544A>G | CA351606835 | BTD | c.628A>G (p.Ile210Val) c.399+2487A>G (n.399+2487A>G) c.165+2487A>G (n.165+2487A>G) c.688A>G (p.Ile230Val) c.694A>G (p.Ile232Val) c.406A>G (p.Ile136Val) c.*2406A>G (n.*2406A>G) | gnomAD v4 |
| 3 | g.15644544A>T | CA351606836 | BTD | c.628A>T (p.Ile210Phe) c.399+2487A>T (n.399+2487A>T) c.165+2487A>T (n.165+2487A>T) c.688A>T (p.Ile230Phe) c.694A>T (p.Ile232Phe) c.406A>T (p.Ile136Phe) c.*2406A>T (n.*2406A>T) | gnomAD v4 |
| 3 | g.15644545T>A | CA351606837 | BTD | c.629T>A (p.Ile210Asn) c.399+2488T>A (n.399+2488T>A) c.165+2488T>A (n.165+2488T>A) c.689T>A (p.Ile230Asn) c.695T>A (p.Ile232Asn) c.407T>A (p.Ile136Asn) c.*2407T>A (n.*2407T>A) | |
| 3 | g.15644545T>C | CA351606838 | BTD | c.629T>C (p.Ile210Thr) c.399+2488T>C (n.399+2488T>C) c.165+2488T>C (n.165+2488T>C) c.689T>C (p.Ile230Thr) c.695T>C (p.Ile232Thr) c.407T>C (p.Ile136Thr) c.*2407T>C (n.*2407T>C) | |
| 3 | g.15644545T>G | CA351606839 | BTD | c.629T>G (p.Ile210Ser) c.399+2488T>G (n.399+2488T>G) c.165+2488T>G (n.165+2488T>G) c.689T>G (p.Ile230Ser) c.695T>G (p.Ile232Ser) c.407T>G (p.Ile136Ser) c.*2407T>G (n.*2407T>G) | |
| 3 | g.15644546C>A | CA432819414 | BTD | c.630C>A (p.Ile210=) c.399+2489C>A (n.399+2489C>A) c.165+2489C>A (n.165+2489C>A) c.690C>A (p.Ile230=) c.696C>A (p.Ile232=) c.408C>A (p.Ile136=) c.*2408C>A (n.*2408C>A) | gnomAD v4 |
| 3 | g.15644546C>G | CA351606840 | BTD | c.630C>G (p.Ile210Met) c.399+2489C>G (n.399+2489C>G) c.165+2489C>G (n.165+2489C>G) c.690C>G (p.Ile230Met) c.696C>G (p.Ile232Met) c.408C>G (p.Ile136Met) c.*2408C>G (n.*2408C>G) | |
| 3 | g.15644546C>T | CA432819417 | BTD | c.630C>T (p.Ile210=) c.399+2489C>T (n.399+2489C>T) c.165+2489C>T (n.165+2489C>T) c.690C>T (p.Ile230=) c.696C>T (p.Ile232=) c.408C>T (p.Ile136=) c.*2408C>T (n.*2408C>T) | ClinVar gnomAD v4 |
| 3 | g.15644547A>C | CA351606841 | BTD | c.631A>C (p.Thr211Pro) c.399+2490A>C (n.399+2490A>C) c.165+2490A>C (n.165+2490A>C) c.691A>C (p.Thr231Pro) c.697A>C (p.Thr233Pro) c.409A>C (p.Thr137Pro) c.*2409A>C (n.*2409A>C) | |
| 3 | g.15644547A>G | CA351606842 | BTD | c.631A>G (p.Thr211Ala) c.399+2490A>G (n.399+2490A>G) c.165+2490A>G (n.165+2490A>G) c.691A>G (p.Thr231Ala) c.697A>G (p.Thr233Ala) c.409A>G (p.Thr137Ala) c.*2409A>G (n.*2409A>G) | |
| 3 | g.15644547A>T | CA351606843 | BTD | c.631A>T (p.Thr211Ser) c.399+2490A>T (n.399+2490A>T) c.165+2490A>T (n.165+2490A>T) c.691A>T (p.Thr231Ser) c.697A>T (p.Thr233Ser) c.409A>T (p.Thr137Ser) c.*2409A>T (n.*2409A>T) | |
| 3 | g.15644547_15644548delinsAC | CA1347663963 | BTD | c.631_632delinsAC (p.Thr211=) c.399+2490_399+2491delinsAC (n.399+2490_399+2491delinsAC) c.165+2490_165+2491delinsAC (n.165+2490_165+2491delinsAC) c.691_692delinsAC (p.Thr231=) c.697_698delinsAC (p.Thr233=) c.409_410delinsAC (p.Thr137=) c.*2409_*2410delinsAC (n.*2409_*2410delinsAC) | |
| 3 | g.15644548C>A | CA351606844 | BTD | c.632C>A (p.Thr211Asn) c.399+2491C>A (n.399+2491C>A) c.165+2491C>A (n.165+2491C>A) c.692C>A (p.Thr231Asn) c.698C>A (p.Thr233Asn) c.410C>A (p.Thr137Asn) c.*2410C>A (n.*2410C>A) | |
| 3 | g.15644548C= | CA1347663973 | BTD | c.632C= (p.Thr211=) c.399+2491C= (n.399+2491C=) c.165+2491C= (n.165+2491C=) c.692C= (p.Thr231=) c.698C= (p.Thr233=) c.410C= (p.Thr137=) c.*2410C= (n.*2410C=) | |
| 3 | g.15644548C>G | CA351606845 | BTD | c.632C>G (p.Thr211Ser) c.399+2491C>G (n.399+2491C>G) c.165+2491C>G (n.165+2491C>G) c.692C>G (p.Thr231Ser) c.698C>G (p.Thr233Ser) c.410C>G (p.Thr137Ser) c.*2410C>G (n.*2410C>G) | |
| 3 | g.15644548C>T | CA2277361 | BTD | c.632C>T (p.Thr211Ile) c.399+2491C>T (n.399+2491C>T) c.165+2491C>T (n.165+2491C>T) c.692C>T (p.Thr231Ile) c.698C>T (p.Thr233Ile) c.410C>T (p.Thr137Ile) c.*2410C>T (n.*2410C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644549del | CA658761158 | BTD | c.633del (p.Phe212LeufsTer?) c.399+2492del (n.399+2492del) c.165+2492del (n.165+2492del) c.693del (p.Phe232LeufsTer?) c.699del (p.Phe234LeufsTer?) c.411del (p.Phe138LeufsTer?) c.*2411del (n.*2411del) | |
| 3 | g.15644549C>A | CA432819123 | BTD | c.633C>A (p.Thr211=) c.399+2492C>A (n.399+2492C>A) c.165+2492C>A (n.165+2492C>A) c.693C>A (p.Thr231=) c.699C>A (p.Thr233=) c.411C>A (p.Thr137=) c.*2411C>A (n.*2411C>A) | |
| 3 | g.15644549C>G | CA432819124 | BTD | c.633C>G (p.Thr211=) c.399+2492C>G (n.399+2492C>G) c.165+2492C>G (n.165+2492C>G) c.693C>G (p.Thr231=) c.699C>G (p.Thr233=) c.411C>G (p.Thr137=) c.*2411C>G (n.*2411C>G) | |
| 3 | g.15644549C>T | CA432819125 | BTD | c.633C>T (p.Thr211=) c.399+2492C>T (n.399+2492C>T) c.165+2492C>T (n.165+2492C>T) c.693C>T (p.Thr231=) c.699C>T (p.Thr233=) c.411C>T (p.Thr137=) c.*2411C>T (n.*2411C>T) | |
| 3 | g.15644550T>A | CA351606846 | BTD | c.634T>A (p.Phe212Ile) c.399+2493T>A (n.399+2493T>A) c.165+2493T>A (n.165+2493T>A) c.694T>A (p.Phe232Ile) c.700T>A (p.Phe234Ile) c.412T>A (p.Phe138Ile) c.*2412T>A (n.*2412T>A) | |
| 3 | g.15644550T>C | CA351606847 | BTD | c.634T>C (p.Phe212Leu) c.399+2493T>C (n.399+2493T>C) c.165+2493T>C (n.165+2493T>C) c.694T>C (p.Phe232Leu) c.700T>C (p.Phe234Leu) c.412T>C (p.Phe138Leu) c.*2412T>C (n.*2412T>C) | |
| 3 | g.15644550T>G | CA351606848 | BTD | c.634T>G (p.Phe212Val) c.399+2493T>G (n.399+2493T>G) c.165+2493T>G (n.165+2493T>G) c.694T>G (p.Phe232Val) c.700T>G (p.Phe234Val) c.412T>G (p.Phe138Val) c.*2412T>G (n.*2412T>G) | |
| 3 | g.15644551T>A | CA351606849 | BTD | c.635T>A (p.Phe212Tyr) c.399+2494T>A (n.399+2494T>A) c.165+2494T>A (n.165+2494T>A) c.695T>A (p.Phe232Tyr) c.701T>A (p.Phe234Tyr) c.413T>A (p.Phe138Tyr) c.*2413T>A (n.*2413T>A) | |
| 3 | g.15644551T>C | CA351606850 | BTD | c.635T>C (p.Phe212Ser) c.399+2494T>C (n.399+2494T>C) c.165+2494T>C (n.165+2494T>C) c.695T>C (p.Phe232Ser) c.701T>C (p.Phe234Ser) c.413T>C (p.Phe138Ser) c.*2413T>C (n.*2413T>C) | |
| 3 | g.15644551T>G | CA2277362 | BTD | c.635T>G (p.Phe212Cys) c.399+2494T>G (n.399+2494T>G) c.165+2494T>G (n.165+2494T>G) c.695T>G (p.Phe232Cys) c.701T>G (p.Phe234Cys) c.413T>G (p.Phe138Cys) c.*2413T>G (n.*2413T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644551T= | CA1347663981 | BTD | c.635T= (p.Phe212=) c.399+2494T= (n.399+2494T=) c.165+2494T= (n.165+2494T=) c.695T= (p.Phe232=) c.701T= (p.Phe234=) c.413T= (p.Phe138=) c.*2413T= (n.*2413T=) | |
| 3 | g.15644552T>A | CA351606851 | BTD | c.636T>A (p.Phe212Leu) c.399+2495T>A (n.399+2495T>A) c.165+2495T>A (n.165+2495T>A) c.696T>A (p.Phe232Leu) c.702T>A (p.Phe234Leu) c.414T>A (p.Phe138Leu) c.*2414T>A (n.*2414T>A) | |
| 3 | g.15644552T>C | CA432819126 | BTD | c.636T>C (p.Phe212=) c.399+2495T>C (n.399+2495T>C) c.165+2495T>C (n.165+2495T>C) c.696T>C (p.Phe232=) c.702T>C (p.Phe234=) c.414T>C (p.Phe138=) c.*2414T>C (n.*2414T>C) | |
| 3 | g.15644552T>G | CA351606852 | BTD | c.636T>G (p.Phe212Leu) c.399+2495T>G (n.399+2495T>G) c.165+2495T>G (n.165+2495T>G) c.696T>G (p.Phe232Leu) c.702T>G (p.Phe234Leu) c.414T>G (p.Phe138Leu) c.*2414T>G (n.*2414T>G) | |
| 3 | g.15644553G>A | CA351606853 | BTD | c.637G>A (p.Asp213Asn) c.399+2496G>A (n.399+2496G>A) c.165+2496G>A (n.165+2496G>A) c.697G>A (p.Asp233Asn) c.703G>A (p.Asp235Asn) c.415G>A (p.Asp139Asn) c.*2415G>A (n.*2415G>A) | |
| 3 | g.15644553G>C | CA351606854 | BTD | c.637G>C (p.Asp213His) c.399+2496G>C (n.399+2496G>C) c.165+2496G>C (n.165+2496G>C) c.697G>C (p.Asp233His) c.703G>C (p.Asp235His) c.415G>C (p.Asp139His) c.*2415G>C (n.*2415G>C) | |
| 3 | g.15644553G>T | CA351606855 | BTD | c.637G>T (p.Asp213Tyr) c.399+2496G>T (n.399+2496G>T) c.165+2496G>T (n.165+2496G>T) c.697G>T (p.Asp233Tyr) c.703G>T (p.Asp235Tyr) c.415G>T (p.Asp139Tyr) c.*2415G>T (n.*2415G>T) | |
| 3 | g.15644554A>C | CA351606856 | BTD | c.638A>C (p.Asp213Ala) c.399+2497A>C (n.399+2497A>C) c.165+2497A>C (n.165+2497A>C) c.698A>C (p.Asp233Ala) c.704A>C (p.Asp235Ala) c.416A>C (p.Asp139Ala) c.*2416A>C (n.*2416A>C) | |
| 3 | g.15644554A>G | CA351606857 | BTD | c.638A>G (p.Asp213Gly) c.399+2497A>G (n.399+2497A>G) c.165+2497A>G (n.165+2497A>G) c.698A>G (p.Asp233Gly) c.704A>G (p.Asp235Gly) c.416A>G (p.Asp139Gly) c.*2416A>G (n.*2416A>G) | |
| 3 | g.15644554A>T | CA351606858 | BTD | c.638A>T (p.Asp213Val) c.399+2497A>T (n.399+2497A>T) c.165+2497A>T (n.165+2497A>T) c.698A>T (p.Asp233Val) c.704A>T (p.Asp235Val) c.416A>T (p.Asp139Val) c.*2416A>T (n.*2416A>T) | |
| 3 | g.15644555T>A | CA351606859 | BTD | c.639T>A (p.Asp213Glu) c.399+2498T>A (n.399+2498T>A) c.165+2498T>A (n.165+2498T>A) c.699T>A (p.Asp233Glu) c.705T>A (p.Asp235Glu) c.417T>A (p.Asp139Glu) c.*2417T>A (n.*2417T>A) | |
| 3 | g.15644555T>C | CA432819130 | BTD | c.639T>C (p.Asp213=) c.399+2498T>C (n.399+2498T>C) c.165+2498T>C (n.165+2498T>C) c.699T>C (p.Asp233=) c.705T>C (p.Asp235=) c.417T>C (p.Asp139=) c.*2417T>C (n.*2417T>C) | |
| 3 | g.15644555T>G | CA351606860 | BTD | c.639T>G (p.Asp213Glu) c.399+2498T>G (n.399+2498T>G) c.165+2498T>G (n.165+2498T>G) c.699T>G (p.Asp233Glu) c.705T>G (p.Asp235Glu) c.417T>G (p.Asp139Glu) c.*2417T>G (n.*2417T>G) | |
| 3 | g.15644556A>C | CA351606861 | BTD | c.640A>C (p.Thr214Pro) c.399+2499A>C (n.399+2499A>C) c.165+2499A>C (n.165+2499A>C) c.700A>C (p.Thr234Pro) c.706A>C (p.Thr236Pro) c.418A>C (p.Thr140Pro) c.*2418A>C (n.*2418A>C) | |
| 3 | g.15644556A>G | CA351606862 | BTD | c.640A>G (p.Thr214Ala) c.399+2499A>G (n.399+2499A>G) c.165+2499A>G (n.165+2499A>G) c.700A>G (p.Thr234Ala) c.706A>G (p.Thr236Ala) c.418A>G (p.Thr140Ala) c.*2418A>G (n.*2418A>G) | ClinVar |
| 3 | g.15644556A>T | CA351606863 | BTD | c.640A>T (p.Thr214Ser) c.399+2499A>T (n.399+2499A>T) c.165+2499A>T (n.165+2499A>T) c.700A>T (p.Thr234Ser) c.706A>T (p.Thr236Ser) c.418A>T (p.Thr140Ser) c.*2418A>T (n.*2418A>T) | |
| 3 | g.15644557C>A | CA351606865 | BTD | c.641C>A (p.Thr214Asn) c.399+2500C>A (n.399+2500C>A) c.165+2500C>A (n.165+2500C>A) c.701C>A (p.Thr234Asn) c.707C>A (p.Thr236Asn) c.419C>A (p.Thr140Asn) c.*2419C>A (n.*2419C>A) | |
| 3 | g.15644557C= | CA1347663985 | BTD | c.641C= (p.Thr214=) c.399+2500C= (n.399+2500C=) c.165+2500C= (n.165+2500C=) c.701C= (p.Thr234=) c.707C= (p.Thr236=) c.419C= (p.Thr140=) c.*2419C= (n.*2419C=) | |
| 3 | g.15644557C>G | CA351606864 | BTD | c.641C>G (p.Thr214Ser) c.399+2500C>G (n.399+2500C>G) c.165+2500C>G (n.165+2500C>G) c.701C>G (p.Thr234Ser) c.707C>G (p.Thr236Ser) c.419C>G (p.Thr140Ser) c.*2419C>G (n.*2419C>G) | dbSNP gnomAD v2 |
| 3 | g.15644557C>T | CA278439 | BTD | c.641C>T (p.Thr214Ile) c.399+2500C>T (n.399+2500C>T) c.165+2500C>T (n.165+2500C>T) c.701C>T (p.Thr234Ile) c.707C>T (p.Thr236Ile) c.419C>T (p.Thr140Ile) c.*2419C>T (n.*2419C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644558C>A | CA432819134 | BTD | c.642C>A (p.Thr214=) c.399+2501C>A (n.399+2501C>A) c.165+2501C>A (n.165+2501C>A) c.702C>A (p.Thr234=) c.708C>A (p.Thr236=) c.420C>A (p.Thr140=) c.*2420C>A (n.*2420C>A) | gnomAD v4 |
| 3 | g.15644558C>G | CA432819136 | BTD | c.642C>G (p.Thr214=) c.399+2501C>G (n.399+2501C>G) c.165+2501C>G (n.165+2501C>G) c.702C>G (p.Thr234=) c.708C>G (p.Thr236=) c.420C>G (p.Thr140=) c.*2420C>G (n.*2420C>G) | |
| 3 | g.15644558C>T | CA432819135 | BTD | c.642C>T (p.Thr214=) c.399+2501C>T (n.399+2501C>T) c.165+2501C>T (n.165+2501C>T) c.702C>T (p.Thr234=) c.708C>T (p.Thr236=) c.420C>T (p.Thr140=) c.*2420C>T (n.*2420C>T) | ClinVar |
| 3 | g.15644559C>A | CA351606866 | BTD | c.643C>A (p.Pro215Thr) c.399+2502C>A (n.399+2502C>A) c.165+2502C>A (n.165+2502C>A) c.703C>A (p.Pro235Thr) c.709C>A (p.Pro237Thr) c.421C>A (p.Pro141Thr) c.*2421C>A (n.*2421C>A) | |
| 3 | g.15644559C= | CA1347663992 | BTD | c.643C= (p.Pro215=) c.399+2502C= (n.399+2502C=) c.165+2502C= (n.165+2502C=) c.703C= (p.Pro235=) c.709C= (p.Pro237=) c.421C= (p.Pro141=) c.*2421C= (n.*2421C=) | |
| 3 | g.15644559C>G | CA351606867 | BTD | c.643C>G (p.Pro215Ala) c.399+2502C>G (n.399+2502C>G) c.165+2502C>G (n.165+2502C>G) c.703C>G (p.Pro235Ala) c.709C>G (p.Pro237Ala) c.421C>G (p.Pro141Ala) c.*2421C>G (n.*2421C>G) | |
| 3 | g.15644559C>T | CA351606868 | BTD | c.643C>T (p.Pro215Ser) c.399+2502C>T (n.399+2502C>T) c.165+2502C>T (n.165+2502C>T) c.703C>T (p.Pro235Ser) c.709C>T (p.Pro237Ser) c.421C>T (p.Pro141Ser) c.*2421C>T (n.*2421C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.15644560C>A | CA351606869 | BTD | c.644C>A (p.Pro215His) c.399+2503C>A (n.399+2503C>A) c.165+2503C>A (n.165+2503C>A) c.704C>A (p.Pro235His) c.710C>A (p.Pro237His) c.422C>A (p.Pro141His) c.*2422C>A (n.*2422C>A) | gnomAD v4 |
| 3 | g.15644560C= | CA1347663997 | BTD | c.644C= (p.Pro215=) c.399+2503C= (n.399+2503C=) c.165+2503C= (n.165+2503C=) c.704C= (p.Pro235=) c.710C= (p.Pro237=) c.422C= (p.Pro141=) c.*2422C= (n.*2422C=) | |
| 3 | g.15644560C>G | CA70621903 | BTD | c.644C>G (p.Pro215Arg) c.399+2503C>G (n.399+2503C>G) c.165+2503C>G (n.165+2503C>G) c.704C>G (p.Pro235Arg) c.710C>G (p.Pro237Arg) c.422C>G (p.Pro141Arg) c.*2422C>G (n.*2422C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644560C>T | CA351606870 | BTD | c.644C>T (p.Pro215Leu) c.399+2503C>T (n.399+2503C>T) c.165+2503C>T (n.165+2503C>T) c.704C>T (p.Pro235Leu) c.710C>T (p.Pro237Leu) c.422C>T (p.Pro141Leu) c.*2422C>T (n.*2422C>T) | gnomAD v4 |
| 3 | g.15644561C>A | CA2277363 | BTD | c.645C>A (p.Pro215=) c.399+2504C>A (n.399+2504C>A) c.165+2504C>A (n.165+2504C>A) c.705C>A (p.Pro235=) c.711C>A (p.Pro237=) c.423C>A (p.Pro141=) c.*2423C>A (n.*2423C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644561C= | CA1347664004 | BTD | c.645C= (p.Pro215=) c.399+2504C= (n.399+2504C=) c.165+2504C= (n.165+2504C=) c.705C= (p.Pro235=) c.711C= (p.Pro237=) c.423C= (p.Pro141=) c.*2423C= (n.*2423C=) | |
| 3 | g.15644561C>G | CA432819144 | BTD | c.645C>G (p.Pro215=) c.399+2504C>G (n.399+2504C>G) c.165+2504C>G (n.165+2504C>G) c.705C>G (p.Pro235=) c.711C>G (p.Pro237=) c.423C>G (p.Pro141=) c.*2423C>G (n.*2423C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644561C>T | CA432819145 | BTD | c.645C>T (p.Pro215=) c.399+2504C>T (n.399+2504C>T) c.165+2504C>T (n.165+2504C>T) c.705C>T (p.Pro235=) c.711C>T (p.Pro237=) c.423C>T (p.Pro141=) c.*2423C>T (n.*2423C>T) | |
| 3 | g.15644562T>A | CA351606871 | BTD | c.646T>A (p.Phe216Ile) c.399+2505T>A (n.399+2505T>A) c.165+2505T>A (n.165+2505T>A) c.706T>A (p.Phe236Ile) c.712T>A (p.Phe238Ile) c.424T>A (p.Phe142Ile) c.*2424T>A (n.*2424T>A) | |
| 3 | g.15644562T>C | CA2277364 | BTD | c.646T>C (p.Phe216Leu) c.399+2505T>C (n.399+2505T>C) c.165+2505T>C (n.165+2505T>C) c.706T>C (p.Phe236Leu) c.712T>C (p.Phe238Leu) c.424T>C (p.Phe142Leu) c.*2424T>C (n.*2424T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644562T>G | CA351606875 | BTD | c.646T>G (p.Phe216Val) c.399+2505T>G (n.399+2505T>G) c.165+2505T>G (n.165+2505T>G) c.706T>G (p.Phe236Val) c.712T>G (p.Phe238Val) c.424T>G (p.Phe142Val) c.*2424T>G (n.*2424T>G) | gnomAD v4 |
| 3 | g.15644562T= | CA1347664008 | BTD | c.646T= (p.Phe216=) c.399+2505T= (n.399+2505T=) c.165+2505T= (n.165+2505T=) c.706T= (p.Phe236=) c.712T= (p.Phe238=) c.424T= (p.Phe142=) c.*2424T= (n.*2424T=) | |
| 3 | g.15644563T>A | CA351606878 | BTD | c.647T>A (p.Phe216Tyr) c.399+2506T>A (n.399+2506T>A) c.165+2506T>A (n.165+2506T>A) c.707T>A (p.Phe236Tyr) c.713T>A (p.Phe238Tyr) c.425T>A (p.Phe142Tyr) c.*2425T>A (n.*2425T>A) | |
| 3 | g.15644563T>C | CA351606880 | BTD | c.647T>C (p.Phe216Ser) c.399+2506T>C (n.399+2506T>C) c.165+2506T>C (n.165+2506T>C) c.707T>C (p.Phe236Ser) c.713T>C (p.Phe238Ser) c.425T>C (p.Phe142Ser) c.*2425T>C (n.*2425T>C) | |
| 3 | g.15644563T>G | CA351606881 | BTD | c.647T>G (p.Phe216Cys) c.399+2506T>G (n.399+2506T>G) c.165+2506T>G (n.165+2506T>G) c.707T>G (p.Phe236Cys) c.713T>G (p.Phe238Cys) c.425T>G (p.Phe142Cys) c.*2425T>G (n.*2425T>G) | |
| 3 | g.15644564T>A | CA351606886 | BTD | c.648T>A (p.Phe216Leu) c.399+2507T>A (n.399+2507T>A) c.165+2507T>A (n.165+2507T>A) c.708T>A (p.Phe236Leu) c.714T>A (p.Phe238Leu) c.426T>A (p.Phe142Leu) c.*2426T>A (n.*2426T>A) | |
| 3 | g.15644564T>C | CA432819148 | BTD | c.648T>C (p.Phe216=) c.399+2507T>C (n.399+2507T>C) c.165+2507T>C (n.165+2507T>C) c.708T>C (p.Phe236=) c.714T>C (p.Phe238=) c.426T>C (p.Phe142=) c.*2426T>C (n.*2426T>C) | |
| 3 | g.15644564T>G | CA351606884 | BTD | c.648T>G (p.Phe216Leu) c.399+2507T>G (n.399+2507T>G) c.165+2507T>G (n.165+2507T>G) c.708T>G (p.Phe236Leu) c.714T>G (p.Phe238Leu) c.426T>G (p.Phe142Leu) c.*2426T>G (n.*2426T>G) | |
| 3 | g.15644565G>A | CA278250 | BTD | c.649G>A (p.Ala217Thr) c.399+2508G>A (n.399+2508G>A) c.165+2508G>A (n.165+2508G>A) c.709G>A (p.Ala237Thr) c.715G>A (p.Ala239Thr) c.427G>A (p.Ala143Thr) c.*2427G>A (n.*2427G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644565G>C | CA351606891 | BTD | c.649G>C (p.Ala217Pro) c.399+2508G>C (n.399+2508G>C) c.165+2508G>C (n.165+2508G>C) c.709G>C (p.Ala237Pro) c.715G>C (p.Ala239Pro) c.427G>C (p.Ala143Pro) c.*2427G>C (n.*2427G>C) | |
| 3 | g.15644565G= | CA1347664013 | BTD | c.649G= (p.Ala217=) c.399+2508G= (n.399+2508G=) c.165+2508G= (n.165+2508G=) c.709G= (p.Ala237=) c.715G= (p.Ala239=) c.427G= (p.Ala143=) c.*2427G= (n.*2427G=) | |
| 3 | g.15644565G>T | CA351606889 | BTD | c.649G>T (p.Ala217Ser) c.399+2508G>T (n.399+2508G>T) c.165+2508G>T (n.165+2508G>T) c.709G>T (p.Ala237Ser) c.715G>T (p.Ala239Ser) c.427G>T (p.Ala143Ser) c.*2427G>T (n.*2427G>T) | |
| 3 | g.15644566C>A | CA351606893 | BTD | c.650C>A (p.Ala217Asp) c.399+2509C>A (n.399+2509C>A) c.165+2509C>A (n.165+2509C>A) c.710C>A (p.Ala237Asp) c.716C>A (p.Ala239Asp) c.428C>A (p.Ala143Asp) c.*2428C>A (n.*2428C>A) | gnomAD v4 |
| 3 | g.15644566C>G | CA351606897 | BTD | c.650C>G (p.Ala217Gly) c.399+2509C>G (n.399+2509C>G) c.165+2509C>G (n.165+2509C>G) c.710C>G (p.Ala237Gly) c.716C>G (p.Ala239Gly) c.428C>G (p.Ala143Gly) c.*2428C>G (n.*2428C>G) | |
| 3 | g.15644566C>T | CA351606895 | BTD | c.650C>T (p.Ala217Val) c.399+2509C>T (n.399+2509C>T) c.165+2509C>T (n.165+2509C>T) c.710C>T (p.Ala237Val) c.716C>T (p.Ala239Val) c.428C>T (p.Ala143Val) c.*2428C>T (n.*2428C>T) | COSMIC |
| 3 | g.15644567T>A | CA432819153 | BTD | c.651T>A (p.Ala217=) c.399+2510T>A (n.399+2510T>A) c.165+2510T>A (n.165+2510T>A) c.711T>A (p.Ala237=) c.717T>A (p.Ala239=) c.429T>A (p.Ala143=) c.*2429T>A (n.*2429T>A) | |
| 3 | g.15644567T>C | CA432819155 | BTD | c.651T>C (p.Ala217=) c.399+2510T>C (n.399+2510T>C) c.165+2510T>C (n.165+2510T>C) c.711T>C (p.Ala237=) c.717T>C (p.Ala239=) c.429T>C (p.Ala143=) c.*2429T>C (n.*2429T>C) | |
| 3 | g.15644567T>G | CA432819157 | BTD | c.651T>G (p.Ala217=) c.399+2510T>G (n.399+2510T>G) c.165+2510T>G (n.165+2510T>G) c.711T>G (p.Ala237=) c.717T>G (p.Ala239=) c.429T>G (p.Ala143=) c.*2429T>G (n.*2429T>G) | |
| 3 | g.15644568G>A | CA351606900 | BTD | c.652G>A (p.Gly218Ser) c.399+2511G>A (n.399+2511G>A) c.165+2511G>A (n.165+2511G>A) c.712G>A (p.Gly238Ser) c.718G>A (p.Gly240Ser) c.430G>A (p.Gly144Ser) c.*2430G>A (n.*2430G>A) | |
| 3 | g.15644568G>C | CA351606906 | BTD | c.652G>C (p.Gly218Arg) c.399+2511G>C (n.399+2511G>C) c.165+2511G>C (n.165+2511G>C) c.712G>C (p.Gly238Arg) c.718G>C (p.Gly240Arg) c.430G>C (p.Gly144Arg) c.*2430G>C (n.*2430G>C) | |
| 3 | g.15644568G>T | CA351606908 | BTD | c.652G>T (p.Gly218Cys) c.399+2511G>T (n.399+2511G>T) c.165+2511G>T (n.165+2511G>T) c.712G>T (p.Gly238Cys) c.718G>T (p.Gly240Cys) c.430G>T (p.Gly144Cys) c.*2430G>T (n.*2430G>T) | |
| 3 | g.15644569G>A | CA351606910 | BTD | c.653G>A (p.Gly218Asp) c.399+2512G>A (n.399+2512G>A) c.165+2512G>A (n.165+2512G>A) c.713G>A (p.Gly238Asp) c.719G>A (p.Gly240Asp) c.431G>A (p.Gly144Asp) c.*2431G>A (n.*2431G>A) | |
| 3 | g.15644569G>C | CA2277365 | BTD | c.653G>C (p.Gly218Ala) c.399+2512G>C (n.399+2512G>C) c.165+2512G>C (n.165+2512G>C) c.713G>C (p.Gly238Ala) c.719G>C (p.Gly240Ala) c.431G>C (p.Gly144Ala) c.*2431G>C (n.*2431G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644569G= | CA1347664021 | BTD | c.653G= (p.Gly218=) c.399+2512G= (n.399+2512G=) c.165+2512G= (n.165+2512G=) c.713G= (p.Gly238=) c.719G= (p.Gly240=) c.431G= (p.Gly144=) c.*2431G= (n.*2431G=) | |
| 3 | g.15644569G>T | CA351606913 | BTD | c.653G>T (p.Gly218Val) c.399+2512G>T (n.399+2512G>T) c.165+2512G>T (n.165+2512G>T) c.713G>T (p.Gly238Val) c.719G>T (p.Gly240Val) c.431G>T (p.Gly144Val) c.*2431G>T (n.*2431G>T) | |
| 3 | g.15644570C>A | CA432819164 | BTD | c.654C>A (p.Gly218=) c.399+2513C>A (n.399+2513C>A) c.165+2513C>A (n.165+2513C>A) c.714C>A (p.Gly238=) c.720C>A (p.Gly240=) c.432C>A (p.Gly144=) c.*2432C>A (n.*2432C>A) | |
| 3 | g.15644570C>G | CA432819166 | BTD | c.654C>G (p.Gly218=) c.399+2513C>G (n.399+2513C>G) c.165+2513C>G (n.165+2513C>G) c.714C>G (p.Gly238=) c.720C>G (p.Gly240=) c.432C>G (p.Gly144=) c.*2432C>G (n.*2432C>G) | |
| 3 | g.15644570C>T | CA432819165 | BTD | c.654C>T (p.Gly218=) c.399+2513C>T (n.399+2513C>T) c.165+2513C>T (n.165+2513C>T) c.714C>T (p.Gly238=) c.720C>T (p.Gly240=) c.432C>T (p.Gly144=) c.*2432C>T (n.*2432C>T) | |
| 3 | g.15644571A>C | CA432819170 | BTD | c.655A>C (p.Arg219=) c.399+2514A>C (n.399+2514A>C) c.165+2514A>C (n.165+2514A>C) c.715A>C (p.Arg239=) c.721A>C (p.Arg241=) c.433A>C (p.Arg145=) c.*2433A>C (n.*2433A>C) | |
| 3 | g.15644571A>G | CA351606915 | BTD | c.655A>G (p.Arg219Gly) c.399+2514A>G (n.399+2514A>G) c.165+2514A>G (n.165+2514A>G) c.715A>G (p.Arg239Gly) c.721A>G (p.Arg241Gly) c.433A>G (p.Arg145Gly) c.*2433A>G (n.*2433A>G) | gnomAD v4 |
| 3 | g.15644571A>T | CA351606917 | BTD | c.655A>T (p.Arg219Trp) c.399+2514A>T (n.399+2514A>T) c.165+2514A>T (n.165+2514A>T) c.715A>T (p.Arg239Trp) c.721A>T (p.Arg241Trp) c.433A>T (p.Arg145Trp) c.*2433A>T (n.*2433A>T) | |
| 3 | g.15644572G>A | CA351606918 | BTD | c.656G>A (p.Arg219Lys) c.399+2515G>A (n.399+2515G>A) c.165+2515G>A (n.165+2515G>A) c.716G>A (p.Arg239Lys) c.722G>A (p.Arg241Lys) c.434G>A (p.Arg145Lys) c.*2434G>A (n.*2434G>A) | |
| 3 | g.15644572G>C | CA351606919 | BTD | c.656G>C (p.Arg219Thr) c.399+2515G>C (n.399+2515G>C) c.165+2515G>C (n.165+2515G>C) c.716G>C (p.Arg239Thr) c.722G>C (p.Arg241Thr) c.434G>C (p.Arg145Thr) c.*2434G>C (n.*2434G>C) | |
| 3 | g.15644572G>T | CA351606920 | BTD | c.656G>T (p.Arg219Met) c.399+2515G>T (n.399+2515G>T) c.165+2515G>T (n.165+2515G>T) c.716G>T (p.Arg239Met) c.722G>T (p.Arg241Met) c.434G>T (p.Arg145Met) c.*2434G>T (n.*2434G>T) | |
| 3 | g.15644573G>A | CA432819172 | BTD | c.657G>A (p.Arg219=) c.399+2516G>A (n.399+2516G>A) c.165+2516G>A (n.165+2516G>A) c.717G>A (p.Arg239=) c.723G>A (p.Arg241=) c.435G>A (p.Arg145=) c.*2435G>A (n.*2435G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644573G>C | CA351606922 | BTD | c.657G>C (p.Arg219Ser) c.399+2516G>C (n.399+2516G>C) c.165+2516G>C (n.165+2516G>C) c.717G>C (p.Arg239Ser) c.723G>C (p.Arg241Ser) c.435G>C (p.Arg145Ser) c.*2435G>C (n.*2435G>C) | |
| 3 | g.15644573G= | CA1347664025 | BTD | c.657G= (p.Arg219=) c.399+2516G= (n.399+2516G=) c.165+2516G= (n.165+2516G=) c.717G= (p.Arg239=) c.723G= (p.Arg241=) c.435G= (p.Arg145=) c.*2435G= (n.*2435G=) | |
| 3 | g.15644573G>T | CA351606921 | BTD | c.657G>T (p.Arg219Ser) c.399+2516G>T (n.399+2516G>T) c.165+2516G>T (n.165+2516G>T) c.717G>T (p.Arg239Ser) c.723G>T (p.Arg241Ser) c.435G>T (p.Arg145Ser) c.*2435G>T (n.*2435G>T) | gnomAD v4 |
| 3 | g.15644574T>A | CA351606925 | BTD | c.658T>A (p.Phe220Ile) c.399+2517T>A (n.399+2517T>A) c.165+2517T>A (n.165+2517T>A) c.718T>A (p.Phe240Ile) c.724T>A (p.Phe242Ile) c.436T>A (p.Phe146Ile) c.*2436T>A (n.*2436T>A) | |
| 3 | g.15644574T>C | CA351606926 | BTD | c.658T>C (p.Phe220Leu) c.399+2517T>C (n.399+2517T>C) c.165+2517T>C (n.165+2517T>C) c.718T>C (p.Phe240Leu) c.724T>C (p.Phe242Leu) c.436T>C (p.Phe146Leu) c.*2436T>C (n.*2436T>C) | |
| 3 | g.15644574T>G | CA2277366 | BTD | c.658T>G (p.Phe220Val) c.399+2517T>G (n.399+2517T>G) c.165+2517T>G (n.165+2517T>G) c.718T>G (p.Phe240Val) c.724T>G (p.Phe242Val) c.436T>G (p.Phe146Val) c.*2436T>G (n.*2436T>G) | dbSNP ExAC gnomAD v2 |
| 3 | g.15644574T= | CA1347664028 | BTD | c.658T= (p.Phe220=) c.399+2517T= (n.399+2517T=) c.165+2517T= (n.165+2517T=) c.718T= (p.Phe240=) c.724T= (p.Phe242=) c.436T= (p.Phe146=) c.*2436T= (n.*2436T=) | |
| 3 | g.15644575T>A | CA351606930 | BTD | c.659T>A (p.Phe220Tyr) c.399+2518T>A (n.399+2518T>A) c.165+2518T>A (n.165+2518T>A) c.719T>A (p.Phe240Tyr) c.725T>A (p.Phe242Tyr) c.437T>A (p.Phe146Tyr) c.*2437T>A (n.*2437T>A) | |
| 3 | g.15644575T>C | CA351606932 | BTD | c.659T>C (p.Phe220Ser) c.399+2518T>C (n.399+2518T>C) c.165+2518T>C (n.165+2518T>C) c.719T>C (p.Phe240Ser) c.725T>C (p.Phe242Ser) c.437T>C (p.Phe146Ser) c.*2437T>C (n.*2437T>C) | dbSNP |
| 3 | g.15644575T>G | CA351606934 | BTD | c.659T>G (p.Phe220Cys) c.399+2518T>G (n.399+2518T>G) c.165+2518T>G (n.165+2518T>G) c.719T>G (p.Phe240Cys) c.725T>G (p.Phe242Cys) c.437T>G (p.Phe146Cys) c.*2437T>G (n.*2437T>G) | |
| 3 | g.15644575T= | CA1347664032 | BTD | c.659T= (p.Phe220=) c.399+2518T= (n.399+2518T=) c.165+2518T= (n.165+2518T=) c.719T= (p.Phe240=) c.725T= (p.Phe242=) c.437T= (p.Phe146=) c.*2437T= (n.*2437T=) | |
| 3 | g.15644576T>A | CA351606936 | BTD | c.660T>A (p.Phe220Leu) c.399+2519T>A (n.399+2519T>A) c.165+2519T>A (n.165+2519T>A) c.720T>A (p.Phe240Leu) c.726T>A (p.Phe242Leu) c.438T>A (p.Phe146Leu) c.*2438T>A (n.*2438T>A) | |
| 3 | g.15644576T>C | CA432819181 | BTD | c.660T>C (p.Phe220=) c.399+2519T>C (n.399+2519T>C) c.165+2519T>C (n.165+2519T>C) c.720T>C (p.Phe240=) c.726T>C (p.Phe242=) c.438T>C (p.Phe146=) c.*2438T>C (n.*2438T>C) | |
| 3 | g.15644576T>G | CA351606938 | BTD | c.660T>G (p.Phe220Leu) c.399+2519T>G (n.399+2519T>G) c.165+2519T>G (n.165+2519T>G) c.720T>G (p.Phe240Leu) c.726T>G (p.Phe242Leu) c.438T>G (p.Phe146Leu) c.*2438T>G (n.*2438T>G) | |
| 3 | g.15644577G>A | CA351606940 | BTD | c.661G>A (p.Gly221Ser) c.399+2520G>A (n.399+2520G>A) c.165+2520G>A (n.165+2520G>A) c.721G>A (p.Gly241Ser) c.727G>A (p.Gly243Ser) c.439G>A (p.Gly147Ser) c.*2439G>A (n.*2439G>A) | |
| 3 | g.15644577G>C | CA351606942 | BTD | c.661G>C (p.Gly221Arg) c.399+2520G>C (n.399+2520G>C) c.165+2520G>C (n.165+2520G>C) c.721G>C (p.Gly241Arg) c.727G>C (p.Gly243Arg) c.439G>C (p.Gly147Arg) c.*2439G>C (n.*2439G>C) | |
| 3 | g.15644577G>T | CA351606944 | BTD | c.661G>T (p.Gly221Cys) c.399+2520G>T (n.399+2520G>T) c.165+2520G>T (n.165+2520G>T) c.721G>T (p.Gly241Cys) c.727G>T (p.Gly243Cys) c.439G>T (p.Gly147Cys) c.*2439G>T (n.*2439G>T) | |
| 3 | g.15644578G>A | CA351606950 | BTD | c.662G>A (p.Gly221Asp) c.399+2521G>A (n.399+2521G>A) c.165+2521G>A (n.165+2521G>A) c.722G>A (p.Gly241Asp) c.728G>A (p.Gly243Asp) c.440G>A (p.Gly147Asp) c.*2440G>A (n.*2440G>A) | ClinVar dbSNP |
| 3 | g.15644578G>C | CA351606948 | BTD | c.662G>C (p.Gly221Ala) c.399+2521G>C (n.399+2521G>C) c.165+2521G>C (n.165+2521G>C) c.722G>C (p.Gly241Ala) c.728G>C (p.Gly243Ala) c.440G>C (p.Gly147Ala) c.*2440G>C (n.*2440G>C) | |
| 3 | g.15644578G= | CA1347664033 | BTD | c.662G= (p.Gly221=) c.399+2521G= (n.399+2521G=) c.165+2521G= (n.165+2521G=) c.722G= (p.Gly241=) c.728G= (p.Gly243=) c.440G= (p.Gly147=) c.*2440G= (n.*2440G=) | |
| 3 | g.15644578G>T | CA351606946 | BTD | c.662G>T (p.Gly221Val) c.399+2521G>T (n.399+2521G>T) c.165+2521G>T (n.165+2521G>T) c.722G>T (p.Gly241Val) c.728G>T (p.Gly243Val) c.440G>T (p.Gly147Val) c.*2440G>T (n.*2440G>T) | |
| 3 | g.15644579C>A | CA432819192 | BTD | c.663C>A (p.Gly221=) c.399+2522C>A (n.399+2522C>A) c.165+2522C>A (n.165+2522C>A) c.723C>A (p.Gly241=) c.729C>A (p.Gly243=) c.441C>A (p.Gly147=) c.*2441C>A (n.*2441C>A) | |
| 3 | g.15644579C>G | CA432819190 | BTD | c.663C>G (p.Gly221=) c.399+2522C>G (n.399+2522C>G) c.165+2522C>G (n.165+2522C>G) c.723C>G (p.Gly241=) c.729C>G (p.Gly243=) c.441C>G (p.Gly147=) c.*2441C>G (n.*2441C>G) | |
| 3 | g.15644579C>T | CA432819187 | BTD | c.663C>T (p.Gly221=) c.399+2522C>T (n.399+2522C>T) c.165+2522C>T (n.165+2522C>T) c.723C>T (p.Gly241=) c.729C>T (p.Gly243=) c.441C>T (p.Gly147=) c.*2441C>T (n.*2441C>T) | |
| 3 | g.15644580A= | CA1347664035 | BTD | c.664A= (p.Ile222=) c.399+2523A= (n.399+2523A=) c.165+2523A= (n.165+2523A=) c.724A= (p.Ile242=) c.730A= (p.Ile244=) c.442A= (p.Ile148=) c.*2442A= (n.*2442A=) | |
| 3 | g.15644580A>C | CA351606951 | BTD | c.664A>C (p.Ile222Leu) c.399+2523A>C (n.399+2523A>C) c.165+2523A>C (n.165+2523A>C) c.724A>C (p.Ile242Leu) c.730A>C (p.Ile244Leu) c.442A>C (p.Ile148Leu) c.*2442A>C (n.*2442A>C) | |
| 3 | g.15644580A>G | CA2277367 | BTD | c.664A>G (p.Ile222Val) c.399+2523A>G (n.399+2523A>G) c.165+2523A>G (n.165+2523A>G) c.724A>G (p.Ile242Val) c.730A>G (p.Ile244Val) c.442A>G (p.Ile148Val) c.*2442A>G (n.*2442A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644580A>T | CA351606954 | BTD | c.664A>T (p.Ile222Phe) c.399+2523A>T (n.399+2523A>T) c.165+2523A>T (n.165+2523A>T) c.724A>T (p.Ile242Phe) c.730A>T (p.Ile244Phe) c.442A>T (p.Ile148Phe) c.*2442A>T (n.*2442A>T) | |
| 3 | g.15644581T>A | CA351606955 | BTD | c.665T>A (p.Ile222Asn) c.399+2524T>A (n.399+2524T>A) c.165+2524T>A (n.165+2524T>A) c.725T>A (p.Ile242Asn) c.731T>A (p.Ile244Asn) c.443T>A (p.Ile148Asn) c.*2443T>A (n.*2443T>A) | |
| 3 | g.15644581T>C | CA351606957 | BTD | c.665T>C (p.Ile222Thr) c.399+2524T>C (n.399+2524T>C) c.165+2524T>C (n.165+2524T>C) c.725T>C (p.Ile242Thr) c.731T>C (p.Ile244Thr) c.443T>C (p.Ile148Thr) c.*2443T>C (n.*2443T>C) | gnomAD v4 |
| 3 | g.15644581T>G | CA351606959 | BTD | c.665T>G (p.Ile222Ser) c.399+2524T>G (n.399+2524T>G) c.165+2524T>G (n.165+2524T>G) c.725T>G (p.Ile242Ser) c.731T>G (p.Ile244Ser) c.443T>G (p.Ile148Ser) c.*2443T>G (n.*2443T>G) | |
| 3 | g.15644582C>A | CA432819197 | BTD | c.666C>A (p.Ile222=) c.399+2525C>A (n.399+2525C>A) c.165+2525C>A (n.165+2525C>A) c.726C>A (p.Ile242=) c.732C>A (p.Ile244=) c.444C>A (p.Ile148=) c.*2444C>A (n.*2444C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644582C= | CA1347664036 | BTD | c.666C= (p.Ile222=) c.399+2525C= (n.399+2525C=) c.165+2525C= (n.165+2525C=) c.726C= (p.Ile242=) c.732C= (p.Ile244=) c.444C= (p.Ile148=) c.*2444C= (n.*2444C=) | |
| 3 | g.15644582C>G | CA351606961 | BTD | c.666C>G (p.Ile222Met) c.399+2525C>G (n.399+2525C>G) c.165+2525C>G (n.165+2525C>G) c.726C>G (p.Ile242Met) c.732C>G (p.Ile244Met) c.444C>G (p.Ile148Met) c.*2444C>G (n.*2444C>G) | |
| 3 | g.15644582C>T | CA432819198 | BTD | c.666C>T (p.Ile222=) c.399+2525C>T (n.399+2525C>T) c.165+2525C>T (n.165+2525C>T) c.726C>T (p.Ile242=) c.732C>T (p.Ile244=) c.444C>T (p.Ile148=) c.*2444C>T (n.*2444C>T) | |
| 3 | g.15644583T>A | CA351606964 | BTD | c.667T>A (p.Phe223Ile) c.399+2526T>A (n.399+2526T>A) c.165+2526T>A (n.165+2526T>A) c.727T>A (p.Phe243Ile) c.733T>A (p.Phe245Ile) c.445T>A (p.Phe149Ile) c.*2445T>A (n.*2445T>A) | |
| 3 | g.15644583T>C | CA351606965 | BTD | c.667T>C (p.Phe223Leu) c.399+2526T>C (n.399+2526T>C) c.165+2526T>C (n.165+2526T>C) c.727T>C (p.Phe243Leu) c.733T>C (p.Phe245Leu) c.445T>C (p.Phe149Leu) c.*2445T>C (n.*2445T>C) | |
| 3 | g.15644583T>G | CA351606966 | BTD | c.667T>G (p.Phe223Val) c.399+2526T>G (n.399+2526T>G) c.165+2526T>G (n.165+2526T>G) c.727T>G (p.Phe243Val) c.733T>G (p.Phe245Val) c.445T>G (p.Phe149Val) c.*2445T>G (n.*2445T>G) | |
| 3 | g.15644584T>A | CA351606967 | BTD | c.668T>A (p.Phe223Tyr) c.399+2527T>A (n.399+2527T>A) c.165+2527T>A (n.165+2527T>A) c.728T>A (p.Phe243Tyr) c.734T>A (p.Phe245Tyr) c.446T>A (p.Phe149Tyr) c.*2446T>A (n.*2446T>A) | |
| 3 | g.15644584T>C | CA351606968 | BTD | c.668T>C (p.Phe223Ser) c.399+2527T>C (n.399+2527T>C) c.165+2527T>C (n.165+2527T>C) c.728T>C (p.Phe243Ser) c.734T>C (p.Phe245Ser) c.446T>C (p.Phe149Ser) c.*2446T>C (n.*2446T>C) | |
| 3 | g.15644584T>G | CA351606970 | BTD | c.668T>G (p.Phe223Cys) c.399+2527T>G (n.399+2527T>G) c.165+2527T>G (n.165+2527T>G) c.728T>G (p.Phe243Cys) c.734T>G (p.Phe245Cys) c.446T>G (p.Phe149Cys) c.*2446T>G (n.*2446T>G) | |
| 3 | g.15644585C>A | CA351606971 | BTD | c.669C>A (p.Phe223Leu) c.399+2528C>A (n.399+2528C>A) c.165+2528C>A (n.165+2528C>A) c.729C>A (p.Phe243Leu) c.735C>A (p.Phe245Leu) c.447C>A (p.Phe149Leu) c.*2447C>A (n.*2447C>A) | |
| 3 | g.15644585C= | CA1347664039 | BTD | c.669C= (p.Phe223=) c.399+2528C= (n.399+2528C=) c.165+2528C= (n.165+2528C=) c.729C= (p.Phe243=) c.735C= (p.Phe245=) c.447C= (p.Phe149=) c.*2447C= (n.*2447C=) | |
| 3 | g.15644585C>G | CA351606973 | BTD | c.669C>G (p.Phe223Leu) c.399+2528C>G (n.399+2528C>G) c.165+2528C>G (n.165+2528C>G) c.729C>G (p.Phe243Leu) c.735C>G (p.Phe245Leu) c.447C>G (p.Phe149Leu) c.*2447C>G (n.*2447C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644585C>T | CA2277368 | BTD | c.669C>T (p.Phe223=) c.399+2528C>T (n.399+2528C>T) c.165+2528C>T (n.165+2528C>T) c.729C>T (p.Phe243=) c.735C>T (p.Phe245=) c.447C>T (p.Phe149=) c.*2447C>T (n.*2447C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644586A>C | CA351606979 | BTD | c.670A>C (p.Thr224Pro) c.399+2529A>C (n.399+2529A>C) c.165+2529A>C (n.165+2529A>C) c.730A>C (p.Thr244Pro) c.736A>C (p.Thr246Pro) c.448A>C (p.Thr150Pro) c.*2448A>C (n.*2448A>C) | |
| 3 | g.15644586A>G | CA351606981 | BTD | c.670A>G (p.Thr224Ala) c.399+2529A>G (n.399+2529A>G) c.165+2529A>G (n.165+2529A>G) c.730A>G (p.Thr244Ala) c.736A>G (p.Thr246Ala) c.448A>G (p.Thr150Ala) c.*2448A>G (n.*2448A>G) | |
| 3 | g.15644586A>T | CA351606983 | BTD | c.670A>T (p.Thr224Ser) c.399+2529A>T (n.399+2529A>T) c.165+2529A>T (n.165+2529A>T) c.730A>T (p.Thr244Ser) c.736A>T (p.Thr246Ser) c.448A>T (p.Thr150Ser) c.*2448A>T (n.*2448A>T) | |
| 3 | g.15644587C>A | CA351606985 | BTD | c.671C>A (p.Thr224Lys) c.399+2530C>A (n.399+2530C>A) c.165+2530C>A (n.165+2530C>A) c.731C>A (p.Thr244Lys) c.737C>A (p.Thr246Lys) c.449C>A (p.Thr150Lys) c.*2449C>A (n.*2449C>A) | |
| 3 | g.15644587C>G | CA351606987 | BTD | c.671C>G (p.Thr224Arg) c.399+2530C>G (n.399+2530C>G) c.165+2530C>G (n.165+2530C>G) c.731C>G (p.Thr244Arg) c.737C>G (p.Thr246Arg) c.449C>G (p.Thr150Arg) c.*2449C>G (n.*2449C>G) | |
| 3 | g.15644587C>T | CA351606988 | BTD | c.671C>T (p.Thr224Ile) c.399+2530C>T (n.399+2530C>T) c.165+2530C>T (n.165+2530C>T) c.731C>T (p.Thr244Ile) c.737C>T (p.Thr246Ile) c.449C>T (p.Thr150Ile) c.*2449C>T (n.*2449C>T) | ClinVar |
| 3 | g.15644588A= | CA1347664042 | BTD | c.672A= (p.Thr224=) c.399+2531A= (n.399+2531A=) c.165+2531A= (n.165+2531A=) c.732A= (p.Thr244=) c.738A= (p.Thr246=) c.450A= (p.Thr150=) c.*2450A= (n.*2450A=) | |
| 3 | g.15644588A>C | CA432819212 | BTD | c.672A>C (p.Thr224=) c.399+2531A>C (n.399+2531A>C) c.165+2531A>C (n.165+2531A>C) c.732A>C (p.Thr244=) c.738A>C (p.Thr246=) c.450A>C (p.Thr150=) c.*2450A>C (n.*2450A>C) | |
| 3 | g.15644588A>G | CA70622007 | BTD | c.672A>G (p.Thr224=) c.399+2531A>G (n.399+2531A>G) c.165+2531A>G (n.165+2531A>G) c.732A>G (p.Thr244=) c.738A>G (p.Thr246=) c.450A>G (p.Thr150=) c.*2450A>G (n.*2450A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644588A>T | CA70622009 | BTD | c.672A>T (p.Thr224=) c.399+2531A>T (n.399+2531A>T) c.165+2531A>T (n.165+2531A>T) c.732A>T (p.Thr244=) c.738A>T (p.Thr246=) c.450A>T (p.Thr150=) c.*2450A>T (n.*2450A>T) | dbSNP |
| 3 | g.15644589T>A | CA351606992 | BTD | c.673T>A (p.Cys225Ser) c.399+2532T>A (n.399+2532T>A) c.165+2532T>A (n.165+2532T>A) c.733T>A (p.Cys245Ser) c.739T>A (p.Cys247Ser) c.451T>A (p.Cys151Ser) c.*2451T>A (n.*2451T>A) | |
| 3 | g.15644589T>C | CA351606994 | BTD | c.673T>C (p.Cys225Arg) c.399+2532T>C (n.399+2532T>C) c.165+2532T>C (n.165+2532T>C) c.733T>C (p.Cys245Arg) c.739T>C (p.Cys247Arg) c.451T>C (p.Cys151Arg) c.*2451T>C (n.*2451T>C) | |
| 3 | g.15644589T>G | CA351606996 | BTD | c.673T>G (p.Cys225Gly) c.399+2532T>G (n.399+2532T>G) c.165+2532T>G (n.165+2532T>G) c.733T>G (p.Cys245Gly) c.739T>G (p.Cys247Gly) c.451T>G (p.Cys151Gly) c.*2451T>G (n.*2451T>G) | |
| 3 | g.15644590G>A | CA278252 | BTD | c.674G>A (p.Cys225Tyr) c.399+2533G>A (n.399+2533G>A) c.165+2533G>A (n.165+2533G>A) c.734G>A (p.Cys245Tyr) c.740G>A (p.Cys247Tyr) c.452G>A (p.Cys151Tyr) c.*2452G>A (n.*2452G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644590G>C | CA351607000 | BTD | c.674G>C (p.Cys225Ser) c.399+2533G>C (n.399+2533G>C) c.165+2533G>C (n.165+2533G>C) c.734G>C (p.Cys245Ser) c.740G>C (p.Cys247Ser) c.452G>C (p.Cys151Ser) c.*2452G>C (n.*2452G>C) | |
| 3 | g.15644590G= | CA1347664049 | BTD | c.674G= (p.Cys225=) c.399+2533G= (n.399+2533G=) c.165+2533G= (n.165+2533G=) c.734G= (p.Cys245=) c.740G= (p.Cys247=) c.452G= (p.Cys151=) c.*2452G= (n.*2452G=) | |
| 3 | g.15644590G>T | CA351606998 | BTD | c.674G>T (p.Cys225Phe) c.399+2533G>T (n.399+2533G>T) c.165+2533G>T (n.165+2533G>T) c.734G>T (p.Cys245Phe) c.740G>T (p.Cys247Phe) c.452G>T (p.Cys151Phe) c.*2452G>T (n.*2452G>T) | |
| 3 | g.15644591C>A | CA351607003 | BTD | c.675C>A (p.Cys225Ter) c.399+2534C>A (n.399+2534C>A) c.165+2534C>A (n.165+2534C>A) c.735C>A (p.Cys245Ter) c.741C>A (p.Cys247Ter) c.453C>A (p.Cys151Ter) c.*2453C>A (n.*2453C>A) | ClinVar |
| 3 | g.15644591C= | CA1347664051 | BTD | c.675C= (p.Cys225=) c.399+2534C= (n.399+2534C=) c.165+2534C= (n.165+2534C=) c.735C= (p.Cys245=) c.741C= (p.Cys247=) c.453C= (p.Cys151=) c.*2453C= (n.*2453C=) | |
| 3 | g.15644591C>G | CA2277369 | BTD | c.675C>G (p.Cys225Trp) c.399+2534C>G (n.399+2534C>G) c.165+2534C>G (n.165+2534C>G) c.735C>G (p.Cys245Trp) c.741C>G (p.Cys247Trp) c.453C>G (p.Cys151Trp) c.*2453C>G (n.*2453C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644591C>T | CA432819224 | BTD | c.675C>T (p.Cys225=) c.399+2534C>T (n.399+2534C>T) c.165+2534C>T (n.165+2534C>T) c.735C>T (p.Cys245=) c.741C>T (p.Cys247=) c.453C>T (p.Cys151=) c.*2453C>T (n.*2453C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644592T>A | CA351607005 | BTD | c.676T>A (p.Phe226Ile) c.399+2535T>A (n.399+2535T>A) c.165+2535T>A (n.165+2535T>A) c.736T>A (p.Phe246Ile) c.742T>A (p.Phe248Ile) c.454T>A (p.Phe152Ile) c.*2454T>A (n.*2454T>A) | |
| 3 | g.15644592T>C | CA351607007 | BTD | c.676T>C (p.Phe226Leu) c.399+2535T>C (n.399+2535T>C) c.165+2535T>C (n.165+2535T>C) c.736T>C (p.Phe246Leu) c.742T>C (p.Phe248Leu) c.454T>C (p.Phe152Leu) c.*2454T>C (n.*2454T>C) | |
| 3 | g.15644592T>G | CA351607009 | BTD | c.676T>G (p.Phe226Val) c.399+2535T>G (n.399+2535T>G) c.165+2535T>G (n.165+2535T>G) c.736T>G (p.Phe246Val) c.742T>G (p.Phe248Val) c.454T>G (p.Phe152Val) c.*2454T>G (n.*2454T>G) | |
| 3 | g.15644593T>A | CA351607011 | BTD | c.677T>A (p.Phe226Tyr) c.399+2536T>A (n.399+2536T>A) c.165+2536T>A (n.165+2536T>A) c.737T>A (p.Phe246Tyr) c.743T>A (p.Phe248Tyr) c.455T>A (p.Phe152Tyr) c.*2455T>A (n.*2455T>A) | |
| 3 | g.15644593T>C | CA351607013 | BTD | c.677T>C (p.Phe226Ser) c.399+2536T>C (n.399+2536T>C) c.165+2536T>C (n.165+2536T>C) c.737T>C (p.Phe246Ser) c.743T>C (p.Phe248Ser) c.455T>C (p.Phe152Ser) c.*2455T>C (n.*2455T>C) | |
| 3 | g.15644593T>G | CA351607015 | BTD | c.677T>G (p.Phe226Cys) c.399+2536T>G (n.399+2536T>G) c.165+2536T>G (n.165+2536T>G) c.737T>G (p.Phe246Cys) c.743T>G (p.Phe248Cys) c.455T>G (p.Phe152Cys) c.*2455T>G (n.*2455T>G) | |
| 3 | g.15644594T>A | CA351607017 | BTD | c.678T>A (p.Phe226Leu) c.399+2537T>A (n.399+2537T>A) c.165+2537T>A (n.165+2537T>A) c.738T>A (p.Phe246Leu) c.744T>A (p.Phe248Leu) c.456T>A (p.Phe152Leu) c.*2456T>A (n.*2456T>A) | |
| 3 | g.15644594T>C | CA2277370 | BTD | c.678T>C (p.Phe226=) c.399+2537T>C (n.399+2537T>C) c.165+2537T>C (n.165+2537T>C) c.738T>C (p.Phe246=) c.744T>C (p.Phe248=) c.456T>C (p.Phe152=) c.*2456T>C (n.*2456T>C) | dbSNP ExAC gnomAD v2 |
| 3 | g.15644594T>G | CA351607019 | BTD | c.678T>G (p.Phe226Leu) c.399+2537T>G (n.399+2537T>G) c.165+2537T>G (n.165+2537T>G) c.738T>G (p.Phe246Leu) c.744T>G (p.Phe248Leu) c.456T>G (p.Phe152Leu) c.*2456T>G (n.*2456T>G) | |
| 3 | g.15644594T= | CA1347664053 | BTD | c.678T= (p.Phe226=) c.399+2537T= (n.399+2537T=) c.165+2537T= (n.165+2537T=) c.738T= (p.Phe246=) c.744T= (p.Phe248=) c.456T= (p.Phe152=) c.*2456T= (n.*2456T=) | |
| 3 | g.15644595G>A | CA351607022 | BTD | c.679G>A (p.Asp227Asn) c.399+2538G>A (n.399+2538G>A) c.165+2538G>A (n.165+2538G>A) c.739G>A (p.Asp247Asn) c.745G>A (p.Asp249Asn) c.457G>A (p.Asp153Asn) c.*2457G>A (n.*2457G>A) | |
| 3 | g.15644595G>C | CA351607024 | BTD | c.679G>C (p.Asp227His) c.399+2538G>C (n.399+2538G>C) c.165+2538G>C (n.165+2538G>C) c.739G>C (p.Asp247His) c.745G>C (p.Asp249His) c.457G>C (p.Asp153His) c.*2457G>C (n.*2457G>C) | |
| 3 | g.15644595G>T | CA351607026 | BTD | c.679G>T (p.Asp227Tyr) c.399+2538G>T (n.399+2538G>T) c.165+2538G>T (n.165+2538G>T) c.739G>T (p.Asp247Tyr) c.745G>T (p.Asp249Tyr) c.457G>T (p.Asp153Tyr) c.*2457G>T (n.*2457G>T) | |
| 3 | g.15644596A>C | CA351607029 | BTD | c.680A>C (p.Asp227Ala) c.399+2539A>C (n.399+2539A>C) c.165+2539A>C (n.165+2539A>C) c.740A>C (p.Asp247Ala) c.746A>C (p.Asp249Ala) c.458A>C (p.Asp153Ala) c.*2458A>C (n.*2458A>C) | |
| 3 | g.15644596A>G | CA351607033 | BTD | c.680A>G (p.Asp227Gly) c.399+2539A>G (n.399+2539A>G) c.165+2539A>G (n.165+2539A>G) c.740A>G (p.Asp247Gly) c.746A>G (p.Asp249Gly) c.458A>G (p.Asp153Gly) c.*2458A>G (n.*2458A>G) | |
| 3 | g.15644596A>T | CA351607031 | BTD | c.680A>T (p.Asp227Val) c.399+2539A>T (n.399+2539A>T) c.165+2539A>T (n.165+2539A>T) c.740A>T (p.Asp247Val) c.746A>T (p.Asp249Val) c.458A>T (p.Asp153Val) c.*2458A>T (n.*2458A>T) | |
| 3 | g.15644597T>A | CA351607035 | BTD | c.681T>A (p.Asp227Glu) c.399+2540T>A (n.399+2540T>A) c.165+2540T>A (n.165+2540T>A) c.741T>A (p.Asp247Glu) c.747T>A (p.Asp249Glu) c.459T>A (p.Asp153Glu) c.*2459T>A (n.*2459T>A) | |
| 3 | g.15644597T>C | CA432819241 | BTD | c.681T>C (p.Asp227=) c.399+2540T>C (n.399+2540T>C) c.165+2540T>C (n.165+2540T>C) c.741T>C (p.Asp247=) c.747T>C (p.Asp249=) c.459T>C (p.Asp153=) c.*2459T>C (n.*2459T>C) | |
| 3 | g.15644597T>G | CA351607037 | BTD | c.681T>G (p.Asp227Glu) c.399+2540T>G (n.399+2540T>G) c.165+2540T>G (n.165+2540T>G) c.741T>G (p.Asp247Glu) c.747T>G (p.Asp249Glu) c.459T>G (p.Asp153Glu) c.*2459T>G (n.*2459T>G) | |
| 3 | g.15644598A= | CA1347664058 | BTD | c.682A= (p.Ile228=) c.399+2541A= (n.399+2541A=) c.165+2541A= (n.165+2541A=) c.742A= (p.Ile248=) c.748A= (p.Ile250=) c.460A= (p.Ile154=) c.*2460A= (n.*2460A=) | |
| 3 | g.15644598A>C | CA351607039 | BTD | c.682A>C (p.Ile228Leu) c.399+2541A>C (n.399+2541A>C) c.165+2541A>C (n.165+2541A>C) c.742A>C (p.Ile248Leu) c.748A>C (p.Ile250Leu) c.460A>C (p.Ile154Leu) c.*2460A>C (n.*2460A>C) | ClinVar dbSNP |
| 3 | g.15644598A>G | CA220333 | BTD | c.682A>G (p.Ile228Val) c.399+2541A>G (n.399+2541A>G) c.165+2541A>G (n.165+2541A>G) c.742A>G (p.Ile248Val) c.748A>G (p.Ile250Val) c.460A>G (p.Ile154Val) c.*2460A>G (n.*2460A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644598A>T | CA351607042 | BTD | c.682A>T (p.Ile228Leu) c.399+2541A>T (n.399+2541A>T) c.165+2541A>T (n.165+2541A>T) c.742A>T (p.Ile248Leu) c.748A>T (p.Ile250Leu) c.460A>T (p.Ile154Leu) c.*2460A>T (n.*2460A>T) | |
| 3 | g.15644599T>A | CA351607043 | BTD | c.683T>A (p.Ile228Lys) c.399+2542T>A (n.399+2542T>A) c.165+2542T>A (n.165+2542T>A) c.743T>A (p.Ile248Lys) c.749T>A (p.Ile250Lys) c.461T>A (p.Ile154Lys) c.*2461T>A (n.*2461T>A) | |
| 3 | g.15644599T>C | CA278254 | BTD | c.683T>C (p.Ile228Thr) c.399+2542T>C (n.399+2542T>C) c.165+2542T>C (n.165+2542T>C) c.743T>C (p.Ile248Thr) c.749T>C (p.Ile250Thr) c.461T>C (p.Ile154Thr) c.*2461T>C (n.*2461T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644599T>G | CA351607046 | BTD | c.683T>G (p.Ile228Arg) c.399+2542T>G (n.399+2542T>G) c.165+2542T>G (n.165+2542T>G) c.743T>G (p.Ile248Arg) c.749T>G (p.Ile250Arg) c.461T>G (p.Ile154Arg) c.*2461T>G (n.*2461T>G) | |
| 3 | g.15644599T= | CA1347664066 | BTD | c.683T= (p.Ile228=) c.399+2542T= (n.399+2542T=) c.165+2542T= (n.165+2542T=) c.743T= (p.Ile248=) c.749T= (p.Ile250=) c.461T= (p.Ile154=) c.*2461T= (n.*2461T=) | |
| 3 | g.15644600_15644604del | CA2664667150 | BTD | c.684_688del (p.Phe230Ter) c.399+2543_399+2547del (n.399+2543_399+2547del) c.165+2543_165+2547del (n.165+2543_165+2547del) c.744_748del (p.Phe250Ter) c.750_754del (p.Phe252Ter) c.462_466del (p.Phe156Ter) c.*2462_*2466del (n.*2462_*2466del) | gnomAD v4 |