UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.223005489_223005490del | CA2747896776 | DISP1 | c.*3619_*3620del (n.*3619_*3620del) c.*3448_*3449del (n.*3448_*3449del) c.4092_4093del (p.Gln1364HisfsTer?) c.*3425_*3426del (n.*3425_*3426del) c.3510_3511del (p.Gln1170HisfsTer?) c.3363_3364del (p.Gln1121HisfsTer?) | |
| 1 | g.223005490G>A | CA344693035 | DISP1 | c.*3620G>A (n.*3620G>A) c.*3449G>A (n.*3449G>A) c.4093G>A (p.Ala1365Thr) c.*3426G>A (n.*3426G>A) c.3511G>A (p.Ala1171Thr) c.3364G>A (p.Ala1122Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.223005490G>C | CA344693036 | DISP1 | c.*3620G>C (n.*3620G>C) c.*3449G>C (n.*3449G>C) c.4093G>C (p.Ala1365Pro) c.*3426G>C (n.*3426G>C) c.3511G>C (p.Ala1171Pro) c.3364G>C (p.Ala1122Pro) | |
| 1 | g.223005490G= | CA1223476758 | DISP1 | c.*3620G= (n.*3620G=) c.*3449G= (n.*3449G=) c.4093G= (p.Ala1365=) c.*3426G= (n.*3426G=) c.3511G= (p.Ala1171=) c.3364G= (p.Ala1122=) | |
| 1 | g.223005490G>T | CA344693037 | DISP1 | c.*3620G>T (n.*3620G>T) c.*3449G>T (n.*3449G>T) c.4093G>T (p.Ala1365Ser) c.*3426G>T (n.*3426G>T) c.3511G>T (p.Ala1171Ser) c.3364G>T (p.Ala1122Ser) | gnomAD v4 |
| 1 | g.223005491C>A | CA344693039 | DISP1 | c.*3621C>A (n.*3621C>A) c.*3450C>A (n.*3450C>A) c.4094C>A (p.Ala1365Asp) c.*3427C>A (n.*3427C>A) c.3512C>A (p.Ala1171Asp) c.3365C>A (p.Ala1122Asp) | |
| 1 | g.223005491C= | CA1223476759 | DISP1 | c.*3621C= (n.*3621C=) c.*3450C= (n.*3450C=) c.4094C= (p.Ala1365=) c.*3427C= (n.*3427C=) c.3512C= (p.Ala1171=) c.3365C= (p.Ala1122=) | |
| 1 | g.223005491C>G | CA344693040 | DISP1 | c.*3621C>G (n.*3621C>G) c.*3450C>G (n.*3450C>G) c.4094C>G (p.Ala1365Gly) c.*3427C>G (n.*3427C>G) c.3512C>G (p.Ala1171Gly) c.3365C>G (p.Ala1122Gly) | dbSNP |
| 1 | g.223005491C>T | CA344693042 | DISP1 | c.*3621C>T (n.*3621C>T) c.*3450C>T (n.*3450C>T) c.4094C>T (p.Ala1365Val) c.*3427C>T (n.*3427C>T) c.3512C>T (p.Ala1171Val) c.3365C>T (p.Ala1122Val) | dbSNP |
| 1 | g.223005492C>A | CA423723692 | DISP1 | c.*3622C>A (n.*3622C>A) c.*3451C>A (n.*3451C>A) c.4095C>A (p.Ala1365=) c.*3428C>A (n.*3428C>A) c.3513C>A (p.Ala1171=) c.3366C>A (p.Ala1122=) | |
| 1 | g.223005492C= | CA1223476760 | DISP1 | c.*3622C= (n.*3622C=) c.*3451C= (n.*3451C=) c.4095C= (p.Ala1365=) c.*3428C= (n.*3428C=) c.3513C= (p.Ala1171=) c.3366C= (p.Ala1122=) | |
| 1 | g.223005492C>G | CA423723696 | DISP1 | c.*3622C>G (n.*3622C>G) c.*3451C>G (n.*3451C>G) c.4095C>G (p.Ala1365=) c.*3428C>G (n.*3428C>G) c.3513C>G (p.Ala1171=) c.3366C>G (p.Ala1122=) | |
| 1 | g.223005492C>T | CA423723697 | DISP1 | c.*3622C>T (n.*3622C>T) c.*3451C>T (n.*3451C>T) c.4095C>T (p.Ala1365=) c.*3428C>T (n.*3428C>T) c.3513C>T (p.Ala1171=) c.3366C>T (p.Ala1122=) | dbSNP |
| 1 | g.223005493C>A | CA344693044 | DISP1 | c.*3623C>A (n.*3623C>A) c.*3452C>A (n.*3452C>A) c.4096C>A (p.Gln1366Lys) c.*3429C>A (n.*3429C>A) c.3514C>A (p.Gln1172Lys) c.3367C>A (p.Gln1123Lys) | |
| 1 | g.223005493C>G | CA344693045 | DISP1 | c.*3623C>G (n.*3623C>G) c.*3452C>G (n.*3452C>G) c.4096C>G (p.Gln1366Glu) c.*3429C>G (n.*3429C>G) c.3514C>G (p.Gln1172Glu) c.3367C>G (p.Gln1123Glu) | |
| 1 | g.223005493C>T | CA344693046 | DISP1 | c.*3623C>T (n.*3623C>T) c.*3452C>T (n.*3452C>T) c.4096C>T (p.Gln1366Ter) c.*3429C>T (n.*3429C>T) c.3514C>T (p.Gln1172Ter) c.3367C>T (p.Gln1123Ter) | |
| 1 | g.223005494A>C | CA344693048 | DISP1 | c.*3624A>C (n.*3624A>C) c.*3453A>C (n.*3453A>C) c.4097A>C (p.Gln1366Pro) c.*3430A>C (n.*3430A>C) c.3515A>C (p.Gln1172Pro) c.3368A>C (p.Gln1123Pro) | |
| 1 | g.223005494A>G | CA344693049 | DISP1 | c.*3624A>G (n.*3624A>G) c.*3453A>G (n.*3453A>G) c.4097A>G (p.Gln1366Arg) c.*3430A>G (n.*3430A>G) c.3515A>G (p.Gln1172Arg) c.3368A>G (p.Gln1123Arg) | |
| 1 | g.223005494A>T | CA344693051 | DISP1 | c.*3624A>T (n.*3624A>T) c.*3453A>T (n.*3453A>T) c.4097A>T (p.Gln1366Leu) c.*3430A>T (n.*3430A>T) c.3515A>T (p.Gln1172Leu) c.3368A>T (p.Gln1123Leu) | |
| 1 | g.223005495A= | CA1223476761 | DISP1 | c.*3625A= (n.*3625A=) c.*3454A= (n.*3454A=) c.4098A= (p.Gln1366=) c.*3431A= (n.*3431A=) c.3516A= (p.Gln1172=) c.3369A= (p.Gln1123=) | |
| 1 | g.223005495A>C | CA344693068 | DISP1 | c.*3625A>C (n.*3625A>C) c.*3454A>C (n.*3454A>C) c.4098A>C (p.Gln1366His) c.*3431A>C (n.*3431A>C) c.3516A>C (p.Gln1172His) c.3369A>C (p.Gln1123His) | |
| 1 | g.223005495A>G | CA423723709 | DISP1 | c.*3625A>G (n.*3625A>G) c.*3454A>G (n.*3454A>G) c.4098A>G (p.Gln1366=) c.*3431A>G (n.*3431A>G) c.3516A>G (p.Gln1172=) c.3369A>G (p.Gln1123=) | dbSNP |
| 1 | g.223005495A>T | CA344693057 | DISP1 | c.*3625A>T (n.*3625A>T) c.*3454A>T (n.*3454A>T) c.4098A>T (p.Gln1366His) c.*3431A>T (n.*3431A>T) c.3516A>T (p.Gln1172His) c.3369A>T (p.Gln1123His) | |
| 1 | g.223005496G>A | CA344693070 | DISP1 | c.*3626G>A (n.*3626G>A) c.*3455G>A (n.*3455G>A) c.4099G>A (p.Glu1367Lys) c.*3432G>A (n.*3432G>A) c.3517G>A (p.Glu1173Lys) c.3370G>A (p.Glu1124Lys) | COSMIC |
| 1 | g.223005496G>C | CA344693076 | DISP1 | c.*3626G>C (n.*3626G>C) c.*3455G>C (n.*3455G>C) c.4099G>C (p.Glu1367Gln) c.*3432G>C (n.*3432G>C) c.3517G>C (p.Glu1173Gln) c.3370G>C (p.Glu1124Gln) | |
| 1 | g.223005496G>T | CA344693078 | DISP1 | c.*3626G>T (n.*3626G>T) c.*3455G>T (n.*3455G>T) c.4099G>T (p.Glu1367Ter) c.*3432G>T (n.*3432G>T) c.3517G>T (p.Glu1173Ter) c.3370G>T (p.Glu1124Ter) | |
| 1 | g.223005496_223005497delinsGA | CA1223476762 | DISP1 | c.*3626_*3627delinsGA (n.*3626_*3627delinsGA) c.*3455_*3456delinsGA (n.*3455_*3456delinsGA) c.4099_4100delinsGA (p.Glu1367=) c.*3432_*3433delinsGA (n.*3432_*3433delinsGA) c.3517_3518delinsGA (p.Glu1173=) c.3370_3371delinsGA (p.Glu1124=) | |
| 1 | g.223005497A>C | CA344693082 | DISP1 | c.*3627A>C (n.*3627A>C) c.*3456A>C (n.*3456A>C) c.4100A>C (p.Glu1367Ala) c.*3433A>C (n.*3433A>C) c.3518A>C (p.Glu1173Ala) c.3371A>C (p.Glu1124Ala) | |
| 1 | g.223005497A>G | CA344693090 | DISP1 | c.*3627A>G (n.*3627A>G) c.*3456A>G (n.*3456A>G) c.4100A>G (p.Glu1367Gly) c.*3433A>G (n.*3433A>G) c.3518A>G (p.Glu1173Gly) c.3371A>G (p.Glu1124Gly) | gnomAD v4 |
| 1 | g.223005497A>T | CA344693092 | DISP1 | c.*3627A>T (n.*3627A>T) c.*3456A>T (n.*3456A>T) c.4100A>T (p.Glu1367Val) c.*3433A>T (n.*3433A>T) c.3518A>T (p.Glu1173Val) c.3371A>T (p.Glu1124Val) | gnomAD v4 |
| 1 | g.223005502dup | CA2747896777 | DISP1 | c.*3632dup (n.*3632dup) c.*3461dup (n.*3461dup) c.4105dup (p.Ile1369AsnfsTer?) c.*3438dup (n.*3438dup) c.3523dup (p.Ile1175AsnfsTer?) c.3376dup (p.Ile1126AsnfsTer?) | |
| 1 | g.223005502del | CA1409534 | DISP1 | c.*3632del (n.*3632del) c.*3461del (n.*3461del) c.4105del (p.Ile1369LeufsTer13) c.*3438del (n.*3438del) c.3523del (p.Ile1175LeufsTer13) c.3376del (p.Ile1126LeufsTer13) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.223005498A>C | CA344693094 | DISP1 | c.*3628A>C (n.*3628A>C) c.*3457A>C (n.*3457A>C) c.4101A>C (p.Glu1367Asp) c.*3434A>C (n.*3434A>C) c.3519A>C (p.Glu1173Asp) c.3372A>C (p.Glu1124Asp) | |
| 1 | g.223005498A>G | CA423723718 | DISP1 | c.*3628A>G (n.*3628A>G) c.*3457A>G (n.*3457A>G) c.4101A>G (p.Glu1367=) c.*3434A>G (n.*3434A>G) c.3519A>G (p.Glu1173=) c.3372A>G (p.Glu1124=) | |
| 1 | g.223005498A>T | CA344693095 | DISP1 | c.*3628A>T (n.*3628A>T) c.*3457A>T (n.*3457A>T) c.4101A>T (p.Glu1367Asp) c.*3434A>T (n.*3434A>T) c.3519A>T (p.Glu1173Asp) c.3372A>T (p.Glu1124Asp) | |
| 1 | g.223005499A>C | CA344693100 | DISP1 | c.*3629A>C (n.*3629A>C) c.*3458A>C (n.*3458A>C) c.4102A>C (p.Lys1368Gln) c.*3435A>C (n.*3435A>C) c.3520A>C (p.Lys1174Gln) c.3373A>C (p.Lys1125Gln) | |
| 1 | g.223005499A>G | CA344693102 | DISP1 | c.*3629A>G (n.*3629A>G) c.*3458A>G (n.*3458A>G) c.4102A>G (p.Lys1368Glu) c.*3435A>G (n.*3435A>G) c.3520A>G (p.Lys1174Glu) c.3373A>G (p.Lys1125Glu) | |
| 1 | g.223005499A>T | CA344693104 | DISP1 | c.*3629A>T (n.*3629A>T) c.*3458A>T (n.*3458A>T) c.4102A>T (p.Lys1368Ter) c.*3435A>T (n.*3435A>T) c.3520A>T (p.Lys1174Ter) c.3373A>T (p.Lys1125Ter) | |
| 1 | g.223005500A= | CA1223476763 | DISP1 | c.*3630A= (n.*3630A=) c.*3459A= (n.*3459A=) c.4103A= (p.Lys1368=) c.*3436A= (n.*3436A=) c.3521A= (p.Lys1174=) c.3374A= (p.Lys1125=) | |
| 1 | g.223005500A>C | CA344693119 | DISP1 | c.*3630A>C (n.*3630A>C) c.*3459A>C (n.*3459A>C) c.4103A>C (p.Lys1368Thr) c.*3436A>C (n.*3436A>C) c.3521A>C (p.Lys1174Thr) c.3374A>C (p.Lys1125Thr) | |
| 1 | g.223005500A>G | CA38410339 | DISP1 | c.*3630A>G (n.*3630A>G) c.*3459A>G (n.*3459A>G) c.4103A>G (p.Lys1368Arg) c.*3436A>G (n.*3436A>G) c.3521A>G (p.Lys1174Arg) c.3374A>G (p.Lys1125Arg) | dbSNP |
| 1 | g.223005500A>T | CA344693107 | DISP1 | c.*3630A>T (n.*3630A>T) c.*3459A>T (n.*3459A>T) c.4103A>T (p.Lys1368Ile) c.*3436A>T (n.*3436A>T) c.3521A>T (p.Lys1174Ile) c.3374A>T (p.Lys1125Ile) | |
| 1 | g.223005501A>C | CA344693125 | DISP1 | c.*3631A>C (n.*3631A>C) c.*3460A>C (n.*3460A>C) c.4104A>C (p.Lys1368Asn) c.*3437A>C (n.*3437A>C) c.3522A>C (p.Lys1174Asn) c.3375A>C (p.Lys1125Asn) | gnomAD v4 |
| 1 | g.223005501A>G | CA423723726 | DISP1 | c.*3631A>G (n.*3631A>G) c.*3460A>G (n.*3460A>G) c.4104A>G (p.Lys1368=) c.*3437A>G (n.*3437A>G) c.3522A>G (p.Lys1174=) c.3375A>G (p.Lys1125=) | |
| 1 | g.223005501A>T | CA344693127 | DISP1 | c.*3631A>T (n.*3631A>T) c.*3460A>T (n.*3460A>T) c.4104A>T (p.Lys1368Asn) c.*3437A>T (n.*3437A>T) c.3522A>T (p.Lys1174Asn) c.3375A>T (p.Lys1125Asn) | |
| 1 | g.223005502A>C | CA344693128 | DISP1 | c.*3632A>C (n.*3632A>C) c.*3461A>C (n.*3461A>C) c.4105A>C (p.Ile1369Leu) c.*3438A>C (n.*3438A>C) c.3523A>C (p.Ile1175Leu) c.3376A>C (p.Ile1126Leu) | |
| 1 | g.223005502A>G | CA344693129 | DISP1 | c.*3632A>G (n.*3632A>G) c.*3461A>G (n.*3461A>G) c.4105A>G (p.Ile1369Val) c.*3438A>G (n.*3438A>G) c.3523A>G (p.Ile1175Val) c.3376A>G (p.Ile1126Val) | gnomAD v3 gnomAD v4 |
| 1 | g.223005502A>T | CA344693130 | DISP1 | c.*3632A>T (n.*3632A>T) c.*3461A>T (n.*3461A>T) c.4105A>T (p.Ile1369Phe) c.*3438A>T (n.*3438A>T) c.3523A>T (p.Ile1175Phe) c.3376A>T (p.Ile1126Phe) | |
| 1 | g.223005503T>A | CA1409536 | DISP1 | c.*3633T>A (n.*3633T>A) c.*3462T>A (n.*3462T>A) c.4106T>A (p.Ile1369Asn) c.*3439T>A (n.*3439T>A) c.3524T>A (p.Ile1175Asn) c.3377T>A (p.Ile1126Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.223005503T>C | CA1409535 | DISP1 | c.*3633T>C (n.*3633T>C) c.*3462T>C (n.*3462T>C) c.4106T>C (p.Ile1369Thr) c.*3439T>C (n.*3439T>C) c.3524T>C (p.Ile1175Thr) c.3377T>C (p.Ile1126Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.223005503T>G | CA344693131 | DISP1 | c.*3633T>G (n.*3633T>G) c.*3462T>G (n.*3462T>G) c.4106T>G (p.Ile1369Ser) c.*3439T>G (n.*3439T>G) c.3524T>G (p.Ile1175Ser) c.3377T>G (p.Ile1126Ser) | |
| 1 | g.223005503T= | CA1223476764 | DISP1 | c.*3633T= (n.*3633T=) c.*3462T= (n.*3462T=) c.4106T= (p.Ile1369=) c.*3439T= (n.*3439T=) c.3524T= (p.Ile1175=) c.3377T= (p.Ile1126=) | |
| 1 | g.223005504T>A | CA423723732 | DISP1 | c.*3634T>A (n.*3634T>A) c.*3463T>A (n.*3463T>A) c.4107T>A (p.Ile1369=) c.*3440T>A (n.*3440T>A) c.3525T>A (p.Ile1175=) c.3378T>A (p.Ile1126=) | |
| 1 | g.223005504T>C | CA423723731 | DISP1 | c.*3634T>C (n.*3634T>C) c.*3463T>C (n.*3463T>C) c.4107T>C (p.Ile1369=) c.*3440T>C (n.*3440T>C) c.3525T>C (p.Ile1175=) c.3378T>C (p.Ile1126=) | dbSNP gnomAD v4 |
| 1 | g.223005504T>G | CA344693135 | DISP1 | c.*3634T>G (n.*3634T>G) c.*3463T>G (n.*3463T>G) c.4107T>G (p.Ile1369Met) c.*3440T>G (n.*3440T>G) c.3525T>G (p.Ile1175Met) c.3378T>G (p.Ile1126Met) | |
| 1 | g.223005504T= | CA1223476765 | DISP1 | c.*3634T= (n.*3634T=) c.*3463T= (n.*3463T=) c.4107T= (p.Ile1369=) c.*3440T= (n.*3440T=) c.3525T= (p.Ile1175=) c.3378T= (p.Ile1126=) | |
| 1 | g.223005505G>A | CA344693136 | DISP1 | c.*3635G>A (n.*3635G>A) c.*3464G>A (n.*3464G>A) c.4108G>A (p.Gly1370Ser) c.*3441G>A (n.*3441G>A) c.3526G>A (p.Gly1176Ser) c.3379G>A (p.Gly1127Ser) | |
| 1 | g.223005505G>C | CA344693138 | DISP1 | c.*3635G>C (n.*3635G>C) c.*3464G>C (n.*3464G>C) c.4108G>C (p.Gly1370Arg) c.*3441G>C (n.*3441G>C) c.3526G>C (p.Gly1176Arg) c.3379G>C (p.Gly1127Arg) | |
| 1 | g.223005505G>T | CA344693140 | DISP1 | c.*3635G>T (n.*3635G>T) c.*3464G>T (n.*3464G>T) c.4108G>T (p.Gly1370Cys) c.*3441G>T (n.*3441G>T) c.3526G>T (p.Gly1176Cys) c.3379G>T (p.Gly1127Cys) | |
| 1 | g.223005506G>A | CA344693149 | DISP1 | c.*3636G>A (n.*3636G>A) c.*3465G>A (n.*3465G>A) c.4109G>A (p.Gly1370Asp) c.*3442G>A (n.*3442G>A) c.3527G>A (p.Gly1176Asp) c.3380G>A (p.Gly1127Asp) | |
| 1 | g.223005506G>C | CA344693150 | DISP1 | c.*3636G>C (n.*3636G>C) c.*3465G>C (n.*3465G>C) c.4109G>C (p.Gly1370Ala) c.*3442G>C (n.*3442G>C) c.3527G>C (p.Gly1176Ala) c.3380G>C (p.Gly1127Ala) | |
| 1 | g.223005506G>T | CA344693160 | DISP1 | c.*3636G>T (n.*3636G>T) c.*3465G>T (n.*3465G>T) c.4109G>T (p.Gly1370Val) c.*3442G>T (n.*3442G>T) c.3527G>T (p.Gly1176Val) c.3380G>T (p.Gly1127Val) | |
| 1 | g.223005507C>A | CA423723739 | DISP1 | c.*3637C>A (n.*3637C>A) c.*3466C>A (n.*3466C>A) c.4110C>A (p.Gly1370=) c.*3443C>A (n.*3443C>A) c.3528C>A (p.Gly1176=) c.3381C>A (p.Gly1127=) | |
| 1 | g.223005507C= | CA1223476766 | DISP1 | c.*3637C= (n.*3637C=) c.*3466C= (n.*3466C=) c.4110C= (p.Gly1370=) c.*3443C= (n.*3443C=) c.3528C= (p.Gly1176=) c.3381C= (p.Gly1127=) | |
| 1 | g.223005507C>G | CA423723741 | DISP1 | c.*3637C>G (n.*3637C>G) c.*3466C>G (n.*3466C>G) c.4110C>G (p.Gly1370=) c.*3443C>G (n.*3443C>G) c.3528C>G (p.Gly1176=) c.3381C>G (p.Gly1127=) | gnomAD v4 |
| 1 | g.223005507C>T | CA1409537 | DISP1 | c.*3637C>T (n.*3637C>T) c.*3466C>T (n.*3466C>T) c.4110C>T (p.Gly1370=) c.*3443C>T (n.*3443C>T) c.3528C>T (p.Gly1176=) c.3381C>T (p.Gly1127=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.223005508A>C | CA344693166 | DISP1 | c.*3638A>C (n.*3638A>C) c.*3467A>C (n.*3467A>C) c.4111A>C (p.Lys1371Gln) c.*3444A>C (n.*3444A>C) c.3529A>C (p.Lys1177Gln) c.3382A>C (p.Lys1128Gln) | |
| 1 | g.223005508A>G | CA344693167 | DISP1 | c.*3638A>G (n.*3638A>G) c.*3467A>G (n.*3467A>G) c.4111A>G (p.Lys1371Glu) c.*3444A>G (n.*3444A>G) c.3529A>G (p.Lys1177Glu) c.3382A>G (p.Lys1128Glu) | |
| 1 | g.223005508A>T | CA344693170 | DISP1 | c.*3638A>T (n.*3638A>T) c.*3467A>T (n.*3467A>T) c.4111A>T (p.Lys1371Ter) c.*3444A>T (n.*3444A>T) c.3529A>T (p.Lys1177Ter) c.3382A>T (p.Lys1128Ter) | |
| 1 | g.223005509A>C | CA344693177 | DISP1 | c.*3639A>C (n.*3639A>C) c.*3468A>C (n.*3468A>C) c.4112A>C (p.Lys1371Thr) c.*3445A>C (n.*3445A>C) c.3530A>C (p.Lys1177Thr) c.3383A>C (p.Lys1128Thr) | |
| 1 | g.223005509A>G | CA344693178 | DISP1 | c.*3639A>G (n.*3639A>G) c.*3468A>G (n.*3468A>G) c.4112A>G (p.Lys1371Arg) c.*3445A>G (n.*3445A>G) c.3530A>G (p.Lys1177Arg) c.3383A>G (p.Lys1128Arg) | gnomAD v4 |
| 1 | g.223005509A>T | CA344693179 | DISP1 | c.*3639A>T (n.*3639A>T) c.*3468A>T (n.*3468A>T) c.4112A>T (p.Lys1371Met) c.*3445A>T (n.*3445A>T) c.3530A>T (p.Lys1177Met) c.3383A>T (p.Lys1128Met) | |
| 1 | g.223005510G>A | CA423723751 | DISP1 | c.*3640G>A (n.*3640G>A) c.*3469G>A (n.*3469G>A) c.4113G>A (p.Lys1371=) c.*3446G>A (n.*3446G>A) c.3531G>A (p.Lys1177=) c.3384G>A (p.Lys1128=) | gnomAD v4 |
| 1 | g.223005510G>C | CA344693181 | DISP1 | c.*3640G>C (n.*3640G>C) c.*3469G>C (n.*3469G>C) c.4113G>C (p.Lys1371Asn) c.*3446G>C (n.*3446G>C) c.3531G>C (p.Lys1177Asn) c.3384G>C (p.Lys1128Asn) | |
| 1 | g.223005510G>T | CA344693182 | DISP1 | c.*3640G>T (n.*3640G>T) c.*3469G>T (n.*3469G>T) c.4113G>T (p.Lys1371Asn) c.*3446G>T (n.*3446G>T) c.3531G>T (p.Lys1177Asn) c.3384G>T (p.Lys1128Asn) | |
| 1 | g.223005511A>C | CA344693186 | DISP1 | c.*3641A>C (n.*3641A>C) c.*3470A>C (n.*3470A>C) c.4114A>C (p.Thr1372Pro) c.*3447A>C (n.*3447A>C) c.3532A>C (p.Thr1178Pro) c.3385A>C (p.Thr1129Pro) | |
| 1 | g.223005511A>G | CA344693187 | DISP1 | c.*3641A>G (n.*3641A>G) c.*3470A>G (n.*3470A>G) c.4114A>G (p.Thr1372Ala) c.*3447A>G (n.*3447A>G) c.3532A>G (p.Thr1178Ala) c.3385A>G (p.Thr1129Ala) | dbSNP gnomAD v4 |
| 1 | g.223005511A>T | CA344693192 | DISP1 | c.*3641A>T (n.*3641A>T) c.*3470A>T (n.*3470A>T) c.4114A>T (p.Thr1372Ser) c.*3447A>T (n.*3447A>T) c.3532A>T (p.Thr1178Ser) c.3385A>T (p.Thr1129Ser) | |
| 1 | g.223005512C>A | CA344693194 | DISP1 | c.*3642C>A (n.*3642C>A) c.*3471C>A (n.*3471C>A) c.4115C>A (p.Thr1372Asn) c.*3448C>A (n.*3448C>A) c.3533C>A (p.Thr1178Asn) c.3386C>A (p.Thr1129Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005512C= | CA1223476767 | DISP1 | c.*3642C= (n.*3642C=) c.*3471C= (n.*3471C=) c.4115C= (p.Thr1372=) c.*3448C= (n.*3448C=) c.3533C= (p.Thr1178=) c.3386C= (p.Thr1129=) | |
| 1 | g.223005512C>G | CA344693195 | DISP1 | c.*3642C>G (n.*3642C>G) c.*3471C>G (n.*3471C>G) c.4115C>G (p.Thr1372Ser) c.*3448C>G (n.*3448C>G) c.3533C>G (p.Thr1178Ser) c.3386C>G (p.Thr1129Ser) | |
| 1 | g.223005512C>T | CA344693197 | DISP1 | c.*3642C>T (n.*3642C>T) c.*3471C>T (n.*3471C>T) c.4115C>T (p.Thr1372Ile) c.*3448C>T (n.*3448C>T) c.3533C>T (p.Thr1178Ile) c.3386C>T (p.Thr1129Ile) | |
| 1 | g.223005513C>A | CA423723760 | DISP1 | c.*3643C>A (n.*3643C>A) c.*3472C>A (n.*3472C>A) c.4116C>A (p.Thr1372=) c.*3449C>A (n.*3449C>A) c.3534C>A (p.Thr1178=) c.3387C>A (p.Thr1129=) | |
| 1 | g.223005513C>G | CA423723761 | DISP1 | c.*3643C>G (n.*3643C>G) c.*3472C>G (n.*3472C>G) c.4116C>G (p.Thr1372=) c.*3449C>G (n.*3449C>G) c.3534C>G (p.Thr1178=) c.3387C>G (p.Thr1129=) | |
| 1 | g.223005513C>T | CA423723762 | DISP1 | c.*3643C>T (n.*3643C>T) c.*3472C>T (n.*3472C>T) c.4116C>T (p.Thr1372=) c.*3449C>T (n.*3449C>T) c.3534C>T (p.Thr1178=) c.3387C>T (p.Thr1129=) | |
| 1 | g.223005514A>C | CA344693201 | DISP1 | c.*3644A>C (n.*3644A>C) c.*3473A>C (n.*3473A>C) c.4117A>C (p.Asn1373His) c.*3450A>C (n.*3450A>C) c.3535A>C (p.Asn1179His) c.3388A>C (p.Asn1130His) | |
| 1 | g.223005514A>G | CA344693199 | DISP1 | c.*3644A>G (n.*3644A>G) c.*3473A>G (n.*3473A>G) c.4117A>G (p.Asn1373Asp) c.*3450A>G (n.*3450A>G) c.3535A>G (p.Asn1179Asp) c.3388A>G (p.Asn1130Asp) | |
| 1 | g.223005514A>T | CA344693200 | DISP1 | c.*3644A>T (n.*3644A>T) c.*3473A>T (n.*3473A>T) c.4117A>T (p.Asn1373Tyr) c.*3450A>T (n.*3450A>T) c.3535A>T (p.Asn1179Tyr) c.3388A>T (p.Asn1130Tyr) | |
| 1 | g.223005515A= | CA1223476768 | DISP1 | c.*3645A= (n.*3645A=) c.*3474A= (n.*3474A=) c.4118A= (p.Asn1373=) c.*3451A= (n.*3451A=) c.3536A= (p.Asn1179=) c.3389A= (p.Asn1130=) | |
| 1 | g.223005515A>C | CA344693202 | DISP1 | c.*3645A>C (n.*3645A>C) c.*3474A>C (n.*3474A>C) c.4118A>C (p.Asn1373Thr) c.*3451A>C (n.*3451A>C) c.3536A>C (p.Asn1179Thr) c.3389A>C (p.Asn1130Thr) | gnomAD v4 |
| 1 | g.223005515A>G | CA38410370 | DISP1 | c.*3645A>G (n.*3645A>G) c.*3474A>G (n.*3474A>G) c.4118A>G (p.Asn1373Ser) c.*3451A>G (n.*3451A>G) c.3536A>G (p.Asn1179Ser) c.3389A>G (p.Asn1130Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005515A>T | CA38410379 | DISP1 | c.*3645A>T (n.*3645A>T) c.*3474A>T (n.*3474A>T) c.4118A>T (p.Asn1373Ile) c.*3451A>T (n.*3451A>T) c.3536A>T (p.Asn1179Ile) c.3389A>T (p.Asn1130Ile) | dbSNP gnomAD v4 |
| 1 | g.223005516T>A | CA344693207 | DISP1 | c.*3646T>A (n.*3646T>A) c.*3475T>A (n.*3475T>A) c.4119T>A (p.Asn1373Lys) c.*3452T>A (n.*3452T>A) c.3537T>A (p.Asn1179Lys) c.3390T>A (p.Asn1130Lys) | |
| 1 | g.223005516T>C | CA1409538 | DISP1 | c.*3646T>C (n.*3646T>C) c.*3475T>C (n.*3475T>C) c.4119T>C (p.Asn1373=) c.*3452T>C (n.*3452T>C) c.3537T>C (p.Asn1179=) c.3390T>C (p.Asn1130=) | dbSNP ExAC gnomAD v2 |
| 1 | g.223005516T>G | CA344693211 | DISP1 | c.*3646T>G (n.*3646T>G) c.*3475T>G (n.*3475T>G) c.4119T>G (p.Asn1373Lys) c.*3452T>G (n.*3452T>G) c.3537T>G (p.Asn1179Lys) c.3390T>G (p.Asn1130Lys) | gnomAD v4 |
| 1 | g.223005516T= | CA1223476769 | DISP1 | c.*3646T= (n.*3646T=) c.*3475T= (n.*3475T=) c.4119T= (p.Asn1373=) c.*3452T= (n.*3452T=) c.3537T= (p.Asn1179=) c.3390T= (p.Asn1130=) | |
| 1 | g.223005517G>A | CA344693213 | DISP1 | c.*3647G>A (n.*3647G>A) c.*3476G>A (n.*3476G>A) c.4120G>A (p.Val1374Ile) c.*3453G>A (n.*3453G>A) c.3538G>A (p.Val1180Ile) c.3391G>A (p.Val1131Ile) | |
| 1 | g.223005517G>C | CA344693214 | DISP1 | c.*3647G>C (n.*3647G>C) c.*3476G>C (n.*3476G>C) c.4120G>C (p.Val1374Leu) c.*3453G>C (n.*3453G>C) c.3538G>C (p.Val1180Leu) c.3391G>C (p.Val1131Leu) | |
| 1 | g.223005517G>T | CA344693216 | DISP1 | c.*3647G>T (n.*3647G>T) c.*3476G>T (n.*3476G>T) c.4120G>T (p.Val1374Leu) c.*3453G>T (n.*3453G>T) c.3538G>T (p.Val1180Leu) c.3391G>T (p.Val1131Leu) | |
| 1 | g.223005518T>A | CA344693218 | DISP1 | c.*3648T>A (n.*3648T>A) c.*3477T>A (n.*3477T>A) c.4121T>A (p.Val1374Glu) c.*3454T>A (n.*3454T>A) c.3539T>A (p.Val1180Glu) c.3392T>A (p.Val1131Glu) | |
| 1 | g.223005518T>C | CA344693219 | DISP1 | c.*3648T>C (n.*3648T>C) c.*3477T>C (n.*3477T>C) c.4121T>C (p.Val1374Ala) c.*3454T>C (n.*3454T>C) c.3539T>C (p.Val1180Ala) c.3392T>C (p.Val1131Ala) | dbSNP |
| 1 | g.223005518T>G | CA344693220 | DISP1 | c.*3648T>G (n.*3648T>G) c.*3477T>G (n.*3477T>G) c.4121T>G (p.Val1374Gly) c.*3454T>G (n.*3454T>G) c.3539T>G (p.Val1180Gly) c.3392T>G (p.Val1131Gly) | |
| 1 | g.223005518T= | CA1223476770 | DISP1 | c.*3648T= (n.*3648T=) c.*3477T= (n.*3477T=) c.4121T= (p.Val1374=) c.*3454T= (n.*3454T=) c.3539T= (p.Val1180=) c.3392T= (p.Val1131=) | |
| 1 | g.223005519A>C | CA423723771 | DISP1 | c.*3649A>C (n.*3649A>C) c.*3478A>C (n.*3478A>C) c.4122A>C (p.Val1374=) c.*3455A>C (n.*3455A>C) c.3540A>C (p.Val1180=) c.3393A>C (p.Val1131=) | |
| 1 | g.223005519A>G | CA423723772 | DISP1 | c.*3649A>G (n.*3649A>G) c.*3478A>G (n.*3478A>G) c.4122A>G (p.Val1374=) c.*3455A>G (n.*3455A>G) c.3540A>G (p.Val1180=) c.3393A>G (p.Val1131=) | |
| 1 | g.223005519A>T | CA423723773 | DISP1 | c.*3649A>T (n.*3649A>T) c.*3478A>T (n.*3478A>T) c.4122A>T (p.Val1374=) c.*3455A>T (n.*3455A>T) c.3540A>T (p.Val1180=) c.3393A>T (p.Val1131=) | |
| 1 | g.223005522_223005523del | CA2574139125 | DISP1 | c.*3652_*3653del (n.*3652_*3653del) c.*3481_*3482del (n.*3481_*3482del) c.4125_4126del (p.His1375GlnfsTer?) c.*3458_*3459del (n.*3458_*3459del) c.3543_3544del (p.His1181GlnfsTer?) c.3396_3397del (p.His1132GlnfsTer?) | gnomAD v4 |
| 1 | g.223005520C>A | CA344693228 | DISP1 | c.*3650C>A (n.*3650C>A) c.*3479C>A (n.*3479C>A) c.4123C>A (p.His1375Asn) c.*3456C>A (n.*3456C>A) c.3541C>A (p.His1181Asn) c.3394C>A (p.His1132Asn) | |
| 1 | g.223005520C>G | CA344693226 | DISP1 | c.*3650C>G (n.*3650C>G) c.*3479C>G (n.*3479C>G) c.4123C>G (p.His1375Asp) c.*3456C>G (n.*3456C>G) c.3541C>G (p.His1181Asp) c.3394C>G (p.His1132Asp) | |
| 1 | g.223005520C>T | CA344693221 | DISP1 | c.*3650C>T (n.*3650C>T) c.*3479C>T (n.*3479C>T) c.4123C>T (p.His1375Tyr) c.*3456C>T (n.*3456C>T) c.3541C>T (p.His1181Tyr) c.3394C>T (p.His1132Tyr) | |
| 1 | g.223005521A= | CA1223476771 | DISP1 | c.*3651A= (n.*3651A=) c.*3480A= (n.*3480A=) c.4124A= (p.His1375=) c.*3457A= (n.*3457A=) c.3542A= (p.His1181=) c.3395A= (p.His1132=) | |
| 1 | g.223005521A>C | CA344693232 | DISP1 | c.*3651A>C (n.*3651A>C) c.*3480A>C (n.*3480A>C) c.4124A>C (p.His1375Pro) c.*3457A>C (n.*3457A>C) c.3542A>C (p.His1181Pro) c.3395A>C (p.His1132Pro) | |
| 1 | g.223005521A>G | CA344693233 | DISP1 | c.*3651A>G (n.*3651A>G) c.*3480A>G (n.*3480A>G) c.4124A>G (p.His1375Arg) c.*3457A>G (n.*3457A>G) c.3542A>G (p.His1181Arg) c.3395A>G (p.His1132Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.223005521A>T | CA344693239 | DISP1 | c.*3651A>T (n.*3651A>T) c.*3480A>T (n.*3480A>T) c.4124A>T (p.His1375Leu) c.*3457A>T (n.*3457A>T) c.3542A>T (p.His1181Leu) c.3395A>T (p.His1132Leu) | |
| 1 | g.223005522C>A | CA344693241 | DISP1 | c.*3652C>A (n.*3652C>A) c.*3481C>A (n.*3481C>A) c.4125C>A (p.His1375Gln) c.*3458C>A (n.*3458C>A) c.3543C>A (p.His1181Gln) c.3396C>A (p.His1132Gln) | |
| 1 | g.223005522C= | CA1223476772 | DISP1 | c.*3652C= (n.*3652C=) c.*3481C= (n.*3481C=) c.4125C= (p.His1375=) c.*3458C= (n.*3458C=) c.3543C= (p.His1181=) c.3396C= (p.His1132=) | |
| 1 | g.223005522C>G | CA344693243 | DISP1 | c.*3652C>G (n.*3652C>G) c.*3481C>G (n.*3481C>G) c.4125C>G (p.His1375Gln) c.*3458C>G (n.*3458C>G) c.3543C>G (p.His1181Gln) c.3396C>G (p.His1132Gln) | |
| 1 | g.223005522C>T | CA423723775 | DISP1 | c.*3652C>T (n.*3652C>T) c.*3481C>T (n.*3481C>T) c.4125C>T (p.His1375=) c.*3458C>T (n.*3458C>T) c.3543C>T (p.His1181=) c.3396C>T (p.His1132=) | dbSNP |
| 1 | g.223005523A>C | CA344693246 | DISP1 | c.*3653A>C (n.*3653A>C) c.*3482A>C (n.*3482A>C) c.4126A>C (p.Ser1376Arg) c.*3459A>C (n.*3459A>C) c.3544A>C (p.Ser1182Arg) c.3397A>C (p.Ser1133Arg) | |
| 1 | g.223005523A>G | CA344693247 | DISP1 | c.*3653A>G (n.*3653A>G) c.*3482A>G (n.*3482A>G) c.4126A>G (p.Ser1376Gly) c.*3459A>G (n.*3459A>G) c.3544A>G (p.Ser1182Gly) c.3397A>G (p.Ser1133Gly) | gnomAD v4 |
| 1 | g.223005523A>T | CA344693249 | DISP1 | c.*3653A>T (n.*3653A>T) c.*3482A>T (n.*3482A>T) c.4126A>T (p.Ser1376Cys) c.*3459A>T (n.*3459A>T) c.3544A>T (p.Ser1182Cys) c.3397A>T (p.Ser1133Cys) | |
| 1 | g.223005524G>A | CA344693251 | DISP1 | c.*3654G>A (n.*3654G>A) c.*3483G>A (n.*3483G>A) c.4127G>A (p.Ser1376Asn) c.*3460G>A (n.*3460G>A) c.3545G>A (p.Ser1182Asn) c.3398G>A (p.Ser1133Asn) | |
| 1 | g.223005524G>C | CA344693253 | DISP1 | c.*3654G>C (n.*3654G>C) c.*3483G>C (n.*3483G>C) c.4127G>C (p.Ser1376Thr) c.*3460G>C (n.*3460G>C) c.3545G>C (p.Ser1182Thr) c.3398G>C (p.Ser1133Thr) | |
| 1 | g.223005524G>T | CA344693255 | DISP1 | c.*3654G>T (n.*3654G>T) c.*3483G>T (n.*3483G>T) c.4127G>T (p.Ser1376Ile) c.*3460G>T (n.*3460G>T) c.3545G>T (p.Ser1182Ile) c.3398G>T (p.Ser1133Ile) | |
| 1 | g.223005525T>A | CA344693257 | DISP1 | c.*3655T>A (n.*3655T>A) c.*3484T>A (n.*3484T>A) c.4128T>A (p.Ser1376Arg) c.*3461T>A (n.*3461T>A) c.3546T>A (p.Ser1182Arg) c.3399T>A (p.Ser1133Arg) | |
| 1 | g.223005525T>C | CA423723780 | DISP1 | c.*3655T>C (n.*3655T>C) c.*3484T>C (n.*3484T>C) c.4128T>C (p.Ser1376=) c.*3461T>C (n.*3461T>C) c.3546T>C (p.Ser1182=) c.3399T>C (p.Ser1133=) | gnomAD v4 |
| 1 | g.223005525T>G | CA344693259 | DISP1 | c.*3655T>G (n.*3655T>G) c.*3484T>G (n.*3484T>G) c.4128T>G (p.Ser1376Arg) c.*3461T>G (n.*3461T>G) c.3546T>G (p.Ser1182Arg) c.3399T>G (p.Ser1133Arg) | |
| 1 | g.223005526C>A | CA344693263 | DISP1 | c.*3656C>A (n.*3656C>A) c.*3485C>A (n.*3485C>A) c.4129C>A (p.Leu1377Ile) c.*3462C>A (n.*3462C>A) c.3547C>A (p.Leu1183Ile) c.3400C>A (p.Leu1134Ile) | |
| 1 | g.223005526C= | CA1223476773 | DISP1 | c.*3656C= (n.*3656C=) c.*3485C= (n.*3485C=) c.4129C= (p.Leu1377=) c.*3462C= (n.*3462C=) c.3547C= (p.Leu1183=) c.3400C= (p.Leu1134=) | |
| 1 | g.223005526C>G | CA344693265 | DISP1 | c.*3656C>G (n.*3656C>G) c.*3485C>G (n.*3485C>G) c.4129C>G (p.Leu1377Val) c.*3462C>G (n.*3462C>G) c.3547C>G (p.Leu1183Val) c.3400C>G (p.Leu1134Val) | dbSNP |
| 1 | g.223005526C>T | CA344693261 | DISP1 | c.*3656C>T (n.*3656C>T) c.*3485C>T (n.*3485C>T) c.4129C>T (p.Leu1377Phe) c.*3462C>T (n.*3462C>T) c.3547C>T (p.Leu1183Phe) c.3400C>T (p.Leu1134Phe) | |
| 1 | g.223005527T>A | CA344693267 | DISP1 | c.*3657T>A (n.*3657T>A) c.*3486T>A (n.*3486T>A) c.4130T>A (p.Leu1377His) c.*3463T>A (n.*3463T>A) c.3548T>A (p.Leu1183His) c.3401T>A (p.Leu1134His) | |
| 1 | g.223005527T>C | CA344693278 | DISP1 | c.*3657T>C (n.*3657T>C) c.*3486T>C (n.*3486T>C) c.4130T>C (p.Leu1377Pro) c.*3463T>C (n.*3463T>C) c.3548T>C (p.Leu1183Pro) c.3401T>C (p.Leu1134Pro) | |
| 1 | g.223005527T>G | CA344693269 | DISP1 | c.*3657T>G (n.*3657T>G) c.*3486T>G (n.*3486T>G) c.4130T>G (p.Leu1377Arg) c.*3463T>G (n.*3463T>G) c.3548T>G (p.Leu1183Arg) c.3401T>G (p.Leu1134Arg) | |
| 1 | g.223005528T>A | CA423723788 | DISP1 | c.*3658T>A (n.*3658T>A) c.*3487T>A (n.*3487T>A) c.4131T>A (p.Leu1377=) c.*3464T>A (n.*3464T>A) c.3549T>A (p.Leu1183=) c.3402T>A (p.Leu1134=) | |
| 1 | g.223005528T>C | CA423723785 | DISP1 | c.*3658T>C (n.*3658T>C) c.*3487T>C (n.*3487T>C) c.4131T>C (p.Leu1377=) c.*3464T>C (n.*3464T>C) c.3549T>C (p.Leu1183=) c.3402T>C (p.Leu1134=) | |
| 1 | g.223005528T>G | CA423723787 | DISP1 | c.*3658T>G (n.*3658T>G) c.*3487T>G (n.*3487T>G) c.4131T>G (p.Leu1377=) c.*3464T>G (n.*3464T>G) c.3549T>G (p.Leu1183=) c.3402T>G (p.Leu1134=) | |
| 1 | g.223005529C>A | CA344693280 | DISP1 | c.*3659C>A (n.*3659C>A) c.*3488C>A (n.*3488C>A) c.4132C>A (p.Gln1378Lys) c.*3465C>A (n.*3465C>A) c.3550C>A (p.Gln1184Lys) c.3403C>A (p.Gln1135Lys) | |
| 1 | g.223005529C>G | CA344693282 | DISP1 | c.*3659C>G (n.*3659C>G) c.*3488C>G (n.*3488C>G) c.4132C>G (p.Gln1378Glu) c.*3465C>G (n.*3465C>G) c.3550C>G (p.Gln1184Glu) c.3403C>G (p.Gln1135Glu) | |
| 1 | g.223005529C>T | CA344693283 | DISP1 | c.*3659C>T (n.*3659C>T) c.*3488C>T (n.*3488C>T) c.4132C>T (p.Gln1378Ter) c.*3465C>T (n.*3465C>T) c.3550C>T (p.Gln1184Ter) c.3403C>T (p.Gln1135Ter) | |
| 1 | g.223005530A= | CA1223476774 | DISP1 | c.*3660A= (n.*3660A=) c.*3489A= (n.*3489A=) c.4133A= (p.Gln1378=) c.*3466A= (n.*3466A=) c.3551A= (p.Gln1184=) c.3404A= (p.Gln1135=) | |
| 1 | g.223005530A>C | CA344693285 | DISP1 | c.*3660A>C (n.*3660A>C) c.*3489A>C (n.*3489A>C) c.4133A>C (p.Gln1378Pro) c.*3466A>C (n.*3466A>C) c.3551A>C (p.Gln1184Pro) c.3404A>C (p.Gln1135Pro) | dbSNP |
| 1 | g.223005530A>G | CA344693286 | DISP1 | c.*3660A>G (n.*3660A>G) c.*3489A>G (n.*3489A>G) c.4133A>G (p.Gln1378Arg) c.*3466A>G (n.*3466A>G) c.3551A>G (p.Gln1184Arg) c.3404A>G (p.Gln1135Arg) | |
| 1 | g.223005530A>T | CA344693287 | DISP1 | c.*3660A>T (n.*3660A>T) c.*3489A>T (n.*3489A>T) c.4133A>T (p.Gln1378Leu) c.*3466A>T (n.*3466A>T) c.3551A>T (p.Gln1184Leu) c.3404A>T (p.Gln1135Leu) | |
| 1 | g.223005531G>A | CA423723792 | DISP1 | c.*3661G>A (n.*3661G>A) c.*3490G>A (n.*3490G>A) c.4134G>A (p.Gln1378=) c.*3467G>A (n.*3467G>A) c.3552G>A (p.Gln1184=) c.3405G>A (p.Gln1135=) | |
| 1 | g.223005531G>C | CA344693288 | DISP1 | c.*3661G>C (n.*3661G>C) c.*3490G>C (n.*3490G>C) c.4134G>C (p.Gln1378His) c.*3467G>C (n.*3467G>C) c.3552G>C (p.Gln1184His) c.3405G>C (p.Gln1135His) | |
| 1 | g.223005531G>T | CA344693289 | DISP1 | c.*3661G>T (n.*3661G>T) c.*3490G>T (n.*3490G>T) c.4134G>T (p.Gln1378His) c.*3467G>T (n.*3467G>T) c.3552G>T (p.Gln1184His) c.3405G>T (p.Gln1135His) | gnomAD v4 |
| 1 | g.223005532A= | CA1223476775 | DISP1 | c.*3662A= (n.*3662A=) c.*3491A= (n.*3491A=) c.4135A= (p.Arg1379=) c.*3468A= (n.*3468A=) c.3553A= (p.Arg1185=) c.3406A= (p.Arg1136=) | |
| 1 | g.223005532A>C | CA1409539 | DISP1 | c.*3662A>C (n.*3662A>C) c.*3491A>C (n.*3491A>C) c.4135A>C (p.Arg1379=) c.*3468A>C (n.*3468A>C) c.3553A>C (p.Arg1185=) c.3406A>C (p.Arg1136=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.223005532A>G | CA344693293 | DISP1 | c.*3662A>G (n.*3662A>G) c.*3491A>G (n.*3491A>G) c.4135A>G (p.Arg1379Gly) c.*3468A>G (n.*3468A>G) c.3553A>G (p.Arg1185Gly) c.3406A>G (p.Arg1136Gly) | |
| 1 | g.223005532A>T | CA344693294 | DISP1 | c.*3662A>T (n.*3662A>T) c.*3491A>T (n.*3491A>T) c.4135A>T (p.Arg1379Trp) c.*3468A>T (n.*3468A>T) c.3553A>T (p.Arg1185Trp) c.3406A>T (p.Arg1136Trp) | |
| 1 | g.223005533G>A | CA344693300 | DISP1 | c.*3663G>A (n.*3663G>A) c.*3492G>A (n.*3492G>A) c.4136G>A (p.Arg1379Lys) c.*3469G>A (n.*3469G>A) c.3554G>A (p.Arg1185Lys) c.3407G>A (p.Arg1136Lys) | dbSNP |
| 1 | g.223005533G>C | CA344693296 | DISP1 | c.*3663G>C (n.*3663G>C) c.*3492G>C (n.*3492G>C) c.4136G>C (p.Arg1379Thr) c.*3469G>C (n.*3469G>C) c.3554G>C (p.Arg1185Thr) c.3407G>C (p.Arg1136Thr) | gnomAD v4 |
| 1 | g.223005533G= | CA1223476776 | DISP1 | c.*3663G= (n.*3663G=) c.*3492G= (n.*3492G=) c.4136G= (p.Arg1379=) c.*3469G= (n.*3469G=) c.3554G= (p.Arg1185=) c.3407G= (p.Arg1136=) | |
| 1 | g.223005533G>T | CA344693298 | DISP1 | c.*3663G>T (n.*3663G>T) c.*3492G>T (n.*3492G>T) c.4136G>T (p.Arg1379Met) c.*3469G>T (n.*3469G>T) c.3554G>T (p.Arg1185Met) c.3407G>T (p.Arg1136Met) | |
| 1 | g.223005534G>A | CA423723800 | DISP1 | c.*3664G>A (n.*3664G>A) c.*3493G>A (n.*3493G>A) c.4137G>A (p.Arg1379=) c.*3470G>A (n.*3470G>A) c.3555G>A (p.Arg1185=) c.3408G>A (p.Arg1136=) | dbSNP gnomAD v4 |
| 1 | g.223005534G>C | CA344693303 | DISP1 | c.*3664G>C (n.*3664G>C) c.*3493G>C (n.*3493G>C) c.4137G>C (p.Arg1379Ser) c.*3470G>C (n.*3470G>C) c.3555G>C (p.Arg1185Ser) c.3408G>C (p.Arg1136Ser) | |
| 1 | g.223005534G= | CA1223476777 | DISP1 | c.*3664G= (n.*3664G=) c.*3493G= (n.*3493G=) c.4137G= (p.Arg1379=) c.*3470G= (n.*3470G=) c.3555G= (p.Arg1185=) c.3408G= (p.Arg1136=) | |
| 1 | g.223005534G>T | CA344693305 | DISP1 | c.*3664G>T (n.*3664G>T) c.*3493G>T (n.*3493G>T) c.4137G>T (p.Arg1379Ser) c.*3470G>T (n.*3470G>T) c.3555G>T (p.Arg1185Ser) c.3408G>T (p.Arg1136Ser) | gnomAD v4 |
| 1 | g.223005535A= | CA1223476778 | DISP1 | c.*3665A= (n.*3665A=) c.*3494A= (n.*3494A=) c.4138A= (p.Ser1380=) c.*3471A= (n.*3471A=) c.3556A= (p.Ser1186=) c.3409A= (p.Ser1137=) | |
| 1 | g.223005535A>C | CA344693308 | DISP1 | c.*3665A>C (n.*3665A>C) c.*3494A>C (n.*3494A>C) c.4138A>C (p.Ser1380Arg) c.*3471A>C (n.*3471A>C) c.3556A>C (p.Ser1186Arg) c.3409A>C (p.Ser1137Arg) | |
| 1 | g.223005535A>G | CA344693309 | DISP1 | c.*3665A>G (n.*3665A>G) c.*3494A>G (n.*3494A>G) c.4138A>G (p.Ser1380Gly) c.*3471A>G (n.*3471A>G) c.3556A>G (p.Ser1186Gly) c.3409A>G (p.Ser1137Gly) | dbSNP |
| 1 | g.223005535A>T | CA344693312 | DISP1 | c.*3665A>T (n.*3665A>T) c.*3494A>T (n.*3494A>T) c.4138A>T (p.Ser1380Cys) c.*3471A>T (n.*3471A>T) c.3556A>T (p.Ser1186Cys) c.3409A>T (p.Ser1137Cys) | gnomAD v4 |
| 1 | g.223005536G>A | CA1409540 | DISP1 | c.*3666G>A (n.*3666G>A) c.*3495G>A (n.*3495G>A) c.4139G>A (p.Ser1380Asn) c.*3472G>A (n.*3472G>A) c.3557G>A (p.Ser1186Asn) c.3410G>A (p.Ser1137Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005536G>C | CA344693314 | DISP1 | c.*3666G>C (n.*3666G>C) c.*3495G>C (n.*3495G>C) c.4139G>C (p.Ser1380Thr) c.*3472G>C (n.*3472G>C) c.3557G>C (p.Ser1186Thr) c.3410G>C (p.Ser1137Thr) | |
| 1 | g.223005536G= | CA1143630307 | DISP1 | c.*3666G= (n.*3666G=) c.*3495G= (n.*3495G=) c.4139G= (p.Ser1380=) c.*3472G= (n.*3472G=) c.3557G= (p.Ser1186=) c.3410G= (p.Ser1137=) | |
| 1 | g.223005536G>T | CA344693315 | DISP1 | c.*3666G>T (n.*3666G>T) c.*3495G>T (n.*3495G>T) c.4139G>T (p.Ser1380Ile) c.*3472G>T (n.*3472G>T) c.3557G>T (p.Ser1186Ile) c.3410G>T (p.Ser1137Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.223005537C>A | CA344693316 | DISP1 | c.*3667C>A (n.*3667C>A) c.*3496C>A (n.*3496C>A) c.4140C>A (p.Ser1380Arg) c.*3473C>A (n.*3473C>A) c.3558C>A (p.Ser1186Arg) c.3411C>A (p.Ser1137Arg) | |
| 1 | g.223005537C>G | CA344693318 | DISP1 | c.*3667C>G (n.*3667C>G) c.*3496C>G (n.*3496C>G) c.4140C>G (p.Ser1380Arg) c.*3473C>G (n.*3473C>G) c.3558C>G (p.Ser1186Arg) c.3411C>G (p.Ser1137Arg) | |
| 1 | g.223005537C>T | CA423723805 | DISP1 | c.*3667C>T (n.*3667C>T) c.*3496C>T (n.*3496C>T) c.4140C>T (p.Ser1380=) c.*3473C>T (n.*3473C>T) c.3558C>T (p.Ser1186=) c.3411C>T (p.Ser1137=) | |
| 1 | g.223005538A= | CA1148349228 | DISP1 | c.*3668A= (n.*3668A=) c.*3497A= (n.*3497A=) c.4141A= (p.Ile1381=) c.*3474A= (n.*3474A=) c.3559A= (p.Ile1187=) c.3412A= (p.Ile1138=) | |
| 1 | g.223005538A>C | CA344693322 | DISP1 | c.*3668A>C (n.*3668A>C) c.*3497A>C (n.*3497A>C) c.4141A>C (p.Ile1381Leu) c.*3474A>C (n.*3474A>C) c.3559A>C (p.Ile1187Leu) c.3412A>C (p.Ile1138Leu) | |
| 1 | g.223005538A>G | CA1409541 | DISP1 | c.*3668A>G (n.*3668A>G) c.*3497A>G (n.*3497A>G) c.4141A>G (p.Ile1381Val) c.*3474A>G (n.*3474A>G) c.3559A>G (p.Ile1187Val) c.3412A>G (p.Ile1138Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.223005538A>T | CA344693320 | DISP1 | c.*3668A>T (n.*3668A>T) c.*3497A>T (n.*3497A>T) c.4141A>T (p.Ile1381Leu) c.*3474A>T (n.*3474A>T) c.3559A>T (p.Ile1187Leu) c.3412A>T (p.Ile1138Leu) | |
| 1 | g.223005539T>A | CA1409542 | DISP1 | c.*3669T>A (n.*3669T>A) c.*3498T>A (n.*3498T>A) c.4142T>A (p.Ile1381Lys) c.*3475T>A (n.*3475T>A) c.3560T>A (p.Ile1187Lys) c.3413T>A (p.Ile1138Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.223005539T>C | CA344693327 | DISP1 | c.*3669T>C (n.*3669T>C) c.*3498T>C (n.*3498T>C) c.4142T>C (p.Ile1381Thr) c.*3475T>C (n.*3475T>C) c.3560T>C (p.Ile1187Thr) c.3413T>C (p.Ile1138Thr) | |
| 1 | g.223005539T>G | CA344693328 | DISP1 | c.*3669T>G (n.*3669T>G) c.*3498T>G (n.*3498T>G) c.4142T>G (p.Ile1381Arg) c.*3475T>G (n.*3475T>G) c.3560T>G (p.Ile1187Arg) c.3413T>G (p.Ile1138Arg) | |
| 1 | g.223005539T= | CA1223476779 | DISP1 | c.*3669T= (n.*3669T=) c.*3498T= (n.*3498T=) c.4142T= (p.Ile1381=) c.*3475T= (n.*3475T=) c.3560T= (p.Ile1187=) c.3413T= (p.Ile1138=) | |
| 1 | g.223005539dup | CA2574139126 | DISP1 | c.*3669dup (n.*3669dup) c.*3498dup (n.*3498dup) c.4142dup (p.Glu1382ArgfsTer?) c.*3475dup (n.*3475dup) c.3560dup (p.Glu1188ArgfsTer?) c.3413dup (p.Glu1139ArgfsTer?) | |
| 1 | g.223005539_223005542delinsTAGA | CA1223476780 | DISP1 | c.*3669_*3672delinsTAGA (n.*3669_*3672delinsTAGA) c.*3498_*3501delinsTAGA (n.*3498_*3501delinsTAGA) c.4142_4145delinsTAGA (p.Ile1381=) c.*3475_*3478delinsTAGA (n.*3475_*3478delinsTAGA) c.3560_3563delinsTAGA (p.Ile1187=) c.3413_3416delinsTAGA (p.Ile1138=) | |
| 1 | g.223005540A>C | CA423723809 | DISP1 | c.*3670A>C (n.*3670A>C) c.*3499A>C (n.*3499A>C) c.4143A>C (p.Ile1381=) c.*3476A>C (n.*3476A>C) c.3561A>C (p.Ile1187=) c.3414A>C (p.Ile1138=) | |
| 1 | g.223005540A>G | CA344693329 | DISP1 | c.*3670A>G (n.*3670A>G) c.*3499A>G (n.*3499A>G) c.4143A>G (p.Ile1381Met) c.*3476A>G (n.*3476A>G) c.3561A>G (p.Ile1187Met) c.3414A>G (p.Ile1138Met) | |
| 1 | g.223005540A>T | CA423723810 | DISP1 | c.*3670A>T (n.*3670A>T) c.*3499A>T (n.*3499A>T) c.4143A>T (p.Ile1381=) c.*3476A>T (n.*3476A>T) c.3561A>T (p.Ile1187=) c.3414A>T (p.Ile1138=) | |
| 1 | g.223005543_223005545del | CA916412871 | DISP1 | c.*3673_*3675del (n.*3673_*3675del) c.*3502_*3504del (n.*3502_*3504del) c.4146_4148del (p.Glu1383del) c.*3479_*3481del (n.*3479_*3481del) c.3564_3566del (p.Glu1189del) c.3417_3419del (p.Glu1140del) | dbSNP |
| 1 | g.223005541G>A | CA344693330 | DISP1 | c.*3671G>A (n.*3671G>A) c.*3500G>A (n.*3500G>A) c.4144G>A (p.Glu1382Lys) c.*3477G>A (n.*3477G>A) c.3562G>A (p.Glu1188Lys) c.3415G>A (p.Glu1139Lys) | |
| 1 | g.223005541G>C | CA344693331 | DISP1 | c.*3671G>C (n.*3671G>C) c.*3500G>C (n.*3500G>C) c.4144G>C (p.Glu1382Gln) c.*3477G>C (n.*3477G>C) c.3562G>C (p.Glu1188Gln) c.3415G>C (p.Glu1139Gln) | |
| 1 | g.223005541G= | CA1223476781 | DISP1 | c.*3671G= (n.*3671G=) c.*3500G= (n.*3500G=) c.4144G= (p.Glu1382=) c.*3477G= (n.*3477G=) c.3562G= (p.Glu1188=) c.3415G= (p.Glu1139=) | |
| 1 | g.223005541G>T | CA1409543 | DISP1 | c.*3671G>T (n.*3671G>T) c.*3500G>T (n.*3500G>T) c.4144G>T (p.Glu1382Ter) c.*3477G>T (n.*3477G>T) c.3562G>T (p.Glu1188Ter) c.3415G>T (p.Glu1139Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.223005542A>C | CA344693332 | DISP1 | c.*3672A>C (n.*3672A>C) c.*3501A>C (n.*3501A>C) c.4145A>C (p.Glu1382Ala) c.*3478A>C (n.*3478A>C) c.3563A>C (p.Glu1188Ala) c.3416A>C (p.Glu1139Ala) | |
| 1 | g.223005542A>G | CA344693333 | DISP1 | c.*3672A>G (n.*3672A>G) c.*3501A>G (n.*3501A>G) c.4145A>G (p.Glu1382Gly) c.*3478A>G (n.*3478A>G) c.3563A>G (p.Glu1188Gly) c.3416A>G (p.Glu1139Gly) | |
| 1 | g.223005542A>T | CA344693334 | DISP1 | c.*3672A>T (n.*3672A>T) c.*3501A>T (n.*3501A>T) c.4145A>T (p.Glu1382Val) c.*3478A>T (n.*3478A>T) c.3563A>T (p.Glu1188Val) c.3416A>T (p.Glu1139Val) | gnomAD v4 |
| 1 | g.223005543A= | CA1223476782 | DISP1 | c.*3673A= (n.*3673A=) c.*3502A= (n.*3502A=) c.4146A= (p.Glu1382=) c.*3479A= (n.*3479A=) c.3564A= (p.Glu1188=) c.3417A= (p.Glu1139=) | |
| 1 | g.223005543A>C | CA344693335 | DISP1 | c.*3673A>C (n.*3673A>C) c.*3502A>C (n.*3502A>C) c.4146A>C (p.Glu1382Asp) c.*3479A>C (n.*3479A>C) c.3564A>C (p.Glu1188Asp) c.3417A>C (p.Glu1139Asp) | |
| 1 | g.223005543A>G | CA423723812 | DISP1 | c.*3673A>G (n.*3673A>G) c.*3502A>G (n.*3502A>G) c.4146A>G (p.Glu1382=) c.*3479A>G (n.*3479A>G) c.3564A>G (p.Glu1188=) c.3417A>G (p.Glu1139=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.223005543A>T | CA38410428 | DISP1 | c.*3673A>T (n.*3673A>T) c.*3502A>T (n.*3502A>T) c.4146A>T (p.Glu1382Asp) c.*3479A>T (n.*3479A>T) c.3564A>T (p.Glu1188Asp) c.3417A>T (p.Glu1139Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005544G>A | CA344693340 | DISP1 | c.*3674G>A (n.*3674G>A) c.*3503G>A (n.*3503G>A) c.4147G>A (p.Glu1383Lys) c.*3480G>A (n.*3480G>A) c.3565G>A (p.Glu1189Lys) c.3418G>A (p.Glu1140Lys) | |
| 1 | g.223005544G>C | CA344693341 | DISP1 | c.*3674G>C (n.*3674G>C) c.*3503G>C (n.*3503G>C) c.4147G>C (p.Glu1383Gln) c.*3480G>C (n.*3480G>C) c.3565G>C (p.Glu1189Gln) c.3418G>C (p.Glu1140Gln) | |
| 1 | g.223005544G>T | CA344693337 | DISP1 | c.*3674G>T (n.*3674G>T) c.*3503G>T (n.*3503G>T) c.4147G>T (p.Glu1383Ter) c.*3480G>T (n.*3480G>T) c.3565G>T (p.Glu1189Ter) c.3418G>T (p.Glu1140Ter) | |
| 1 | g.223005545A= | CA1223476783 | DISP1 | c.*3675A= (n.*3675A=) c.*3504A= (n.*3504A=) c.4148A= (p.Glu1383=) c.*3481A= (n.*3481A=) c.3566A= (p.Glu1189=) c.3419A= (p.Glu1140=) | |
| 1 | g.223005545A>C | CA344693342 | DISP1 | c.*3675A>C (n.*3675A>C) c.*3504A>C (n.*3504A>C) c.4148A>C (p.Glu1383Ala) c.*3481A>C (n.*3481A>C) c.3566A>C (p.Glu1189Ala) c.3419A>C (p.Glu1140Ala) | |
| 1 | g.223005545A>G | CA344693344 | DISP1 | c.*3675A>G (n.*3675A>G) c.*3504A>G (n.*3504A>G) c.4148A>G (p.Glu1383Gly) c.*3481A>G (n.*3481A>G) c.3566A>G (p.Glu1189Gly) c.3419A>G (p.Glu1140Gly) | |
| 1 | g.223005545A>T | CA344693346 | DISP1 | c.*3675A>T (n.*3675A>T) c.*3504A>T (n.*3504A>T) c.4148A>T (p.Glu1383Val) c.*3481A>T (n.*3481A>T) c.3566A>T (p.Glu1189Val) c.3419A>T (p.Glu1140Val) | |
| 1 | g.223005545_223005546insT | CA1409544 | DISP1 | c.*3675_*3676insT (n.*3675_*3676insT) c.*3504_*3505insT (n.*3504_*3505insT) c.4148_4149insT (p.Glu1383AspfsTer30) c.*3481_*3482insT (n.*3481_*3482insT) c.3566_3567insT (p.Glu1189AspfsTer30) c.3419_3420insT (p.Glu1140AspfsTer30) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005546G>A | CA423723820 | DISP1 | c.*3676G>A (n.*3676G>A) c.*3505G>A (n.*3505G>A) c.4149G>A (p.Glu1383=) c.*3482G>A (n.*3482G>A) c.3567G>A (p.Glu1189=) c.3420G>A (p.Glu1140=) | gnomAD v4 |
| 1 | g.223005546G>C | CA344693349 | DISP1 | c.*3676G>C (n.*3676G>C) c.*3505G>C (n.*3505G>C) c.4149G>C (p.Glu1383Asp) c.*3482G>C (n.*3482G>C) c.3567G>C (p.Glu1189Asp) c.3420G>C (p.Glu1140Asp) | |
| 1 | g.223005546G= | CA1223476784 | DISP1 | c.*3676G= (n.*3676G=) c.*3505G= (n.*3505G=) c.4149G= (p.Glu1383=) c.*3482G= (n.*3482G=) c.3567G= (p.Glu1189=) c.3420G= (p.Glu1140=) | |
| 1 | g.223005546G>T | CA38410434 | DISP1 | c.*3676G>T (n.*3676G>T) c.*3505G>T (n.*3505G>T) c.4149G>T (p.Glu1383Asp) c.*3482G>T (n.*3482G>T) c.3567G>T (p.Glu1189Asp) c.3420G>T (p.Glu1140Asp) | dbSNP |
| 1 | g.223005547C>A | CA344693352 | DISP1 | c.*3677C>A (n.*3677C>A) c.*3506C>A (n.*3506C>A) c.4150C>A (p.His1384Asn) c.*3483C>A (n.*3483C>A) c.3568C>A (p.His1190Asn) c.3421C>A (p.His1141Asn) | |
| 1 | g.223005547C= | CA1223476785 | DISP1 | c.*3677C= (n.*3677C=) c.*3506C= (n.*3506C=) c.4150C= (p.His1384=) c.*3483C= (n.*3483C=) c.3568C= (p.His1190=) c.3421C= (p.His1141=) | |
| 1 | g.223005547C>G | CA344693356 | DISP1 | c.*3677C>G (n.*3677C>G) c.*3506C>G (n.*3506C>G) c.4150C>G (p.His1384Asp) c.*3483C>G (n.*3483C>G) c.3568C>G (p.His1190Asp) c.3421C>G (p.His1141Asp) | |
| 1 | g.223005547C>T | CA344693354 | DISP1 | c.*3677C>T (n.*3677C>T) c.*3506C>T (n.*3506C>T) c.4150C>T (p.His1384Tyr) c.*3483C>T (n.*3483C>T) c.3568C>T (p.His1190Tyr) c.3421C>T (p.His1141Tyr) | dbSNP gnomAD v2 |
| 1 | g.223005548A= | CA1149141951 | DISP1 | c.*3678A= (n.*3678A=) c.*3507A= (n.*3507A=) c.4151A= (p.His1384=) c.*3484A= (n.*3484A=) c.3569A= (p.His1190=) c.3422A= (p.His1141=) | |
| 1 | g.223005548A>C | CA344693357 | DISP1 | c.*3678A>C (n.*3678A>C) c.*3507A>C (n.*3507A>C) c.4151A>C (p.His1384Pro) c.*3484A>C (n.*3484A>C) c.3569A>C (p.His1190Pro) c.3422A>C (p.His1141Pro) | |
| 1 | g.223005548A>G | CA1409545 | DISP1 | c.*3678A>G (n.*3678A>G) c.*3507A>G (n.*3507A>G) c.4151A>G (p.His1384Arg) c.*3484A>G (n.*3484A>G) c.3569A>G (p.His1190Arg) c.3422A>G (p.His1141Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.223005548A>T | CA344693360 | DISP1 | c.*3678A>T (n.*3678A>T) c.*3507A>T (n.*3507A>T) c.4151A>T (p.His1384Leu) c.*3484A>T (n.*3484A>T) c.3569A>T (p.His1190Leu) c.3422A>T (p.His1141Leu) | |
| 1 | g.223005549T>A | CA344693362 | DISP1 | c.*3679T>A (n.*3679T>A) c.*3508T>A (n.*3508T>A) c.4152T>A (p.His1384Gln) c.*3485T>A (n.*3485T>A) c.3570T>A (p.His1190Gln) c.3423T>A (p.His1141Gln) | |
| 1 | g.223005549T>C | CA423723826 | DISP1 | c.*3679T>C (n.*3679T>C) c.*3508T>C (n.*3508T>C) c.4152T>C (p.His1384=) c.*3485T>C (n.*3485T>C) c.3570T>C (p.His1190=) c.3423T>C (p.His1141=) | |
| 1 | g.223005549T>G | CA344693363 | DISP1 | c.*3679T>G (n.*3679T>G) c.*3508T>G (n.*3508T>G) c.4152T>G (p.His1384Gln) c.*3485T>G (n.*3485T>G) c.3570T>G (p.His1190Gln) c.3423T>G (p.His1141Gln) | |
| 1 | g.223005550C>A | CA344693371 | DISP1 | c.*3680C>A (n.*3680C>A) c.*3509C>A (n.*3509C>A) c.4153C>A (p.Leu1385Ile) c.*3486C>A (n.*3486C>A) c.3571C>A (p.Leu1191Ile) c.3424C>A (p.Leu1142Ile) | |
| 1 | g.223005550C>G | CA344693369 | DISP1 | c.*3680C>G (n.*3680C>G) c.*3509C>G (n.*3509C>G) c.4153C>G (p.Leu1385Val) c.*3486C>G (n.*3486C>G) c.3571C>G (p.Leu1191Val) c.3424C>G (p.Leu1142Val) | gnomAD v4 |
| 1 | g.223005550C>T | CA344693367 | DISP1 | c.*3680C>T (n.*3680C>T) c.*3509C>T (n.*3509C>T) c.4153C>T (p.Leu1385Phe) c.*3486C>T (n.*3486C>T) c.3571C>T (p.Leu1191Phe) c.3424C>T (p.Leu1142Phe) | gnomAD v4 |
| 1 | g.223005551T>A | CA344693375 | DISP1 | c.*3681T>A (n.*3681T>A) c.*3510T>A (n.*3510T>A) c.4154T>A (p.Leu1385His) c.*3487T>A (n.*3487T>A) c.3572T>A (p.Leu1191His) c.3425T>A (p.Leu1142His) | |
| 1 | g.223005551T>C | CA344693374 | DISP1 | c.*3681T>C (n.*3681T>C) c.*3510T>C (n.*3510T>C) c.4154T>C (p.Leu1385Pro) c.*3487T>C (n.*3487T>C) c.3572T>C (p.Leu1191Pro) c.3425T>C (p.Leu1142Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.223005551T>G | CA344693377 | DISP1 | c.*3681T>G (n.*3681T>G) c.*3510T>G (n.*3510T>G) c.4154T>G (p.Leu1385Arg) c.*3487T>G (n.*3487T>G) c.3572T>G (p.Leu1191Arg) c.3425T>G (p.Leu1142Arg) | |
| 1 | g.223005551T= | CA1223476786 | DISP1 | c.*3681T= (n.*3681T=) c.*3510T= (n.*3510T=) c.4154T= (p.Leu1385=) c.*3487T= (n.*3487T=) c.3572T= (p.Leu1191=) c.3425T= (p.Leu1142=) | |
| 1 | g.223005552T>A | CA423723832 | DISP1 | c.*3682T>A (n.*3682T>A) c.*3511T>A (n.*3511T>A) c.4155T>A (p.Leu1385=) c.*3488T>A (n.*3488T>A) c.3573T>A (p.Leu1191=) c.3426T>A (p.Leu1142=) | |
| 1 | g.223005552T>C | CA423723833 | DISP1 | c.*3682T>C (n.*3682T>C) c.*3511T>C (n.*3511T>C) c.4155T>C (p.Leu1385=) c.*3488T>C (n.*3488T>C) c.3573T>C (p.Leu1191=) c.3426T>C (p.Leu1142=) | |
| 1 | g.223005552T>G | CA423723835 | DISP1 | c.*3682T>G (n.*3682T>G) c.*3511T>G (n.*3511T>G) c.4155T>G (p.Leu1385=) c.*3488T>G (n.*3488T>G) c.3573T>G (p.Leu1191=) c.3426T>G (p.Leu1142=) | |
| 1 | g.223005553C>A | CA344693379 | DISP1 | c.*3683C>A (n.*3683C>A) c.*3512C>A (n.*3512C>A) c.4156C>A (p.Pro1386Thr) c.*3489C>A (n.*3489C>A) c.3574C>A (p.Pro1192Thr) c.3427C>A (p.Pro1143Thr) | |
| 1 | g.223005553C>G | CA344693383 | DISP1 | c.*3683C>G (n.*3683C>G) c.*3512C>G (n.*3512C>G) c.4156C>G (p.Pro1386Ala) c.*3489C>G (n.*3489C>G) c.3574C>G (p.Pro1192Ala) c.3427C>G (p.Pro1143Ala) | |
| 1 | g.223005553C>T | CA344693381 | DISP1 | c.*3683C>T (n.*3683C>T) c.*3512C>T (n.*3512C>T) c.4156C>T (p.Pro1386Ser) c.*3489C>T (n.*3489C>T) c.3574C>T (p.Pro1192Ser) c.3427C>T (p.Pro1143Ser) | |
| 1 | g.223005554C>A | CA344693387 | DISP1 | c.*3684C>A (n.*3684C>A) c.*3513C>A (n.*3513C>A) c.4157C>A (p.Pro1386Gln) c.*3490C>A (n.*3490C>A) c.3575C>A (p.Pro1192Gln) c.3428C>A (p.Pro1143Gln) | |
| 1 | g.223005554C>G | CA344693388 | DISP1 | c.*3684C>G (n.*3684C>G) c.*3513C>G (n.*3513C>G) c.4157C>G (p.Pro1386Arg) c.*3490C>G (n.*3490C>G) c.3575C>G (p.Pro1192Arg) c.3428C>G (p.Pro1143Arg) | |
| 1 | g.223005554C>T | CA344693389 | DISP1 | c.*3684C>T (n.*3684C>T) c.*3513C>T (n.*3513C>T) c.4157C>T (p.Pro1386Leu) c.*3490C>T (n.*3490C>T) c.3575C>T (p.Pro1192Leu) c.3428C>T (p.Pro1143Leu) | |
| 1 | g.223005555A>C | CA423723841 | DISP1 | c.*3685A>C (n.*3685A>C) c.*3514A>C (n.*3514A>C) c.4158A>C (p.Pro1386=) c.*3491A>C (n.*3491A>C) c.3576A>C (p.Pro1192=) c.3429A>C (p.Pro1143=) | |
| 1 | g.223005555A>G | CA423723843 | DISP1 | c.*3685A>G (n.*3685A>G) c.*3514A>G (n.*3514A>G) c.4158A>G (p.Pro1386=) c.*3491A>G (n.*3491A>G) c.3576A>G (p.Pro1192=) c.3429A>G (p.Pro1143=) | gnomAD v4 |
| 1 | g.223005555A>T | CA423723844 | DISP1 | c.*3685A>T (n.*3685A>T) c.*3514A>T (n.*3514A>T) c.4158A>T (p.Pro1386=) c.*3491A>T (n.*3491A>T) c.3576A>T (p.Pro1192=) c.3429A>T (p.Pro1143=) | |
| 1 | g.223005556A>C | CA344693390 | DISP1 | c.*3686A>C (n.*3686A>C) c.*3515A>C (n.*3515A>C) c.4159A>C (p.Lys1387Gln) c.*3492A>C (n.*3492A>C) c.3577A>C (p.Lys1193Gln) c.3430A>C (p.Lys1144Gln) | |
| 1 | g.223005556A>G | CA344693392 | DISP1 | c.*3686A>G (n.*3686A>G) c.*3515A>G (n.*3515A>G) c.4159A>G (p.Lys1387Glu) c.*3492A>G (n.*3492A>G) c.3577A>G (p.Lys1193Glu) c.3430A>G (p.Lys1144Glu) | |
| 1 | g.223005556A>T | CA344693393 | DISP1 | c.*3686A>T (n.*3686A>T) c.*3515A>T (n.*3515A>T) c.4159A>T (p.Lys1387Ter) c.*3492A>T (n.*3492A>T) c.3577A>T (p.Lys1193Ter) c.3430A>T (p.Lys1144Ter) | |
| 1 | g.223005557A>C | CA344693397 | DISP1 | c.*3687A>C (n.*3687A>C) c.*3516A>C (n.*3516A>C) c.4160A>C (p.Lys1387Thr) c.*3493A>C (n.*3493A>C) c.3578A>C (p.Lys1193Thr) c.3431A>C (p.Lys1144Thr) | |
| 1 | g.223005557A>G | CA344693398 | DISP1 | c.*3687A>G (n.*3687A>G) c.*3516A>G (n.*3516A>G) c.4160A>G (p.Lys1387Arg) c.*3493A>G (n.*3493A>G) c.3578A>G (p.Lys1193Arg) c.3431A>G (p.Lys1144Arg) | |
| 1 | g.223005557A>T | CA344693399 | DISP1 | c.*3687A>T (n.*3687A>T) c.*3516A>T (n.*3516A>T) c.4160A>T (p.Lys1387Met) c.*3493A>T (n.*3493A>T) c.3578A>T (p.Lys1193Met) c.3431A>T (p.Lys1144Met) | |
| 1 | g.223005558G>A | CA423723846 | DISP1 | c.*3688G>A (n.*3688G>A) c.*3517G>A (n.*3517G>A) c.4161G>A (p.Lys1387=) c.*3494G>A (n.*3494G>A) c.3579G>A (p.Lys1193=) c.3432G>A (p.Lys1144=) | gnomAD v4 |
| 1 | g.223005558G>C | CA344693400 | DISP1 | c.*3688G>C (n.*3688G>C) c.*3517G>C (n.*3517G>C) c.4161G>C (p.Lys1387Asn) c.*3494G>C (n.*3494G>C) c.3579G>C (p.Lys1193Asn) c.3432G>C (p.Lys1144Asn) | dbSNP |
| 1 | g.223005558G= | CA1223476787 | DISP1 | c.*3688G= (n.*3688G=) c.*3517G= (n.*3517G=) c.4161G= (p.Lys1387=) c.*3494G= (n.*3494G=) c.3579G= (p.Lys1193=) c.3432G= (p.Lys1144=) | |
| 1 | g.223005558G>T | CA344693401 | DISP1 | c.*3688G>T (n.*3688G>T) c.*3517G>T (n.*3517G>T) c.4161G>T (p.Lys1387Asn) c.*3494G>T (n.*3494G>T) c.3579G>T (p.Lys1193Asn) c.3432G>T (p.Lys1144Asn) | |
| 1 | g.223005559A>C | CA344693406 | DISP1 | c.*3689A>C (n.*3689A>C) c.*3518A>C (n.*3518A>C) c.4162A>C (p.Met1388Leu) c.*3495A>C (n.*3495A>C) c.3580A>C (p.Met1194Leu) c.3433A>C (p.Met1145Leu) | |
| 1 | g.223005559A>G | CA344693404 | DISP1 | c.*3689A>G (n.*3689A>G) c.*3518A>G (n.*3518A>G) c.4162A>G (p.Met1388Val) c.*3495A>G (n.*3495A>G) c.3580A>G (p.Met1194Val) c.3433A>G (p.Met1145Val) | gnomAD v4 |
| 1 | g.223005559A>T | CA344693402 | DISP1 | c.*3689A>T (n.*3689A>T) c.*3518A>T (n.*3518A>T) c.4162A>T (p.Met1388Leu) c.*3495A>T (n.*3495A>T) c.3580A>T (p.Met1194Leu) c.3433A>T (p.Met1145Leu) | |
| 1 | g.223005560T>A | CA344693408 | DISP1 | c.*3690T>A (n.*3690T>A) c.*3519T>A (n.*3519T>A) c.4163T>A (p.Met1388Lys) c.*3496T>A (n.*3496T>A) c.3581T>A (p.Met1194Lys) c.3434T>A (p.Met1145Lys) | |
| 1 | g.223005560T>C | CA344693412 | DISP1 | c.*3690T>C (n.*3690T>C) c.*3519T>C (n.*3519T>C) c.4163T>C (p.Met1388Thr) c.*3496T>C (n.*3496T>C) c.3581T>C (p.Met1194Thr) c.3434T>C (p.Met1145Thr) | gnomAD v4 |
| 1 | g.223005560T>G | CA344693415 | DISP1 | c.*3690T>G (n.*3690T>G) c.*3519T>G (n.*3519T>G) c.4163T>G (p.Met1388Arg) c.*3496T>G (n.*3496T>G) c.3581T>G (p.Met1194Arg) c.3434T>G (p.Met1145Arg) | |
| 1 | g.223005561G>A | CA344693418 | DISP1 | c.*3691G>A (n.*3691G>A) c.*3520G>A (n.*3520G>A) c.4164G>A (p.Met1388Ile) c.*3497G>A (n.*3497G>A) c.3582G>A (p.Met1194Ile) c.3435G>A (p.Met1145Ile) | |
| 1 | g.223005561G>C | CA344693419 | DISP1 | c.*3691G>C (n.*3691G>C) c.*3520G>C (n.*3520G>C) c.4164G>C (p.Met1388Ile) c.*3497G>C (n.*3497G>C) c.3582G>C (p.Met1194Ile) c.3435G>C (p.Met1145Ile) | |
| 1 | g.223005561G>T | CA344693420 | DISP1 | c.*3691G>T (n.*3691G>T) c.*3520G>T (n.*3520G>T) c.4164G>T (p.Met1388Ile) c.*3497G>T (n.*3497G>T) c.3582G>T (p.Met1194Ile) c.3435G>T (p.Met1145Ile) | |
| 1 | g.223005562G>A | CA344693421 | DISP1 | c.*3692G>A (n.*3692G>A) c.*3521G>A (n.*3521G>A) c.4165G>A (p.Ala1389Thr) c.*3498G>A (n.*3498G>A) c.3583G>A (p.Ala1195Thr) c.3436G>A (p.Ala1146Thr) | |
| 1 | g.223005562G>C | CA344693422 | DISP1 | c.*3692G>C (n.*3692G>C) c.*3521G>C (n.*3521G>C) c.4165G>C (p.Ala1389Pro) c.*3498G>C (n.*3498G>C) c.3583G>C (p.Ala1195Pro) c.3436G>C (p.Ala1146Pro) | |
| 1 | g.223005562G>T | CA344693423 | DISP1 | c.*3692G>T (n.*3692G>T) c.*3521G>T (n.*3521G>T) c.4165G>T (p.Ala1389Ser) c.*3498G>T (n.*3498G>T) c.3583G>T (p.Ala1195Ser) c.3436G>T (p.Ala1146Ser) | gnomAD v4 |
| 1 | g.223005563C>A | CA344693426 | DISP1 | c.*3693C>A (n.*3693C>A) c.*3522C>A (n.*3522C>A) c.4166C>A (p.Ala1389Glu) c.*3499C>A (n.*3499C>A) c.3584C>A (p.Ala1195Glu) c.3437C>A (p.Ala1146Glu) | |
| 1 | g.223005563C>G | CA344693427 | DISP1 | c.*3693C>G (n.*3693C>G) c.*3522C>G (n.*3522C>G) c.4166C>G (p.Ala1389Gly) c.*3499C>G (n.*3499C>G) c.3584C>G (p.Ala1195Gly) c.3437C>G (p.Ala1146Gly) | |
| 1 | g.223005563C>T | CA344693430 | DISP1 | c.*3693C>T (n.*3693C>T) c.*3522C>T (n.*3522C>T) c.4166C>T (p.Ala1389Val) c.*3499C>T (n.*3499C>T) c.3584C>T (p.Ala1195Val) c.3437C>T (p.Ala1146Val) | |
| 1 | g.223005564A>C | CA423723852 | DISP1 | c.*3694A>C (n.*3694A>C) c.*3523A>C (n.*3523A>C) c.4167A>C (p.Ala1389=) c.*3500A>C (n.*3500A>C) c.3585A>C (p.Ala1195=) c.3438A>C (p.Ala1146=) | |
| 1 | g.223005564A>G | CA423723856 | DISP1 | c.*3694A>G (n.*3694A>G) c.*3523A>G (n.*3523A>G) c.4167A>G (p.Ala1389=) c.*3500A>G (n.*3500A>G) c.3585A>G (p.Ala1195=) c.3438A>G (p.Ala1146=) | |
| 1 | g.223005564A>T | CA423723853 | DISP1 | c.*3694A>T (n.*3694A>T) c.*3523A>T (n.*3523A>T) c.4167A>T (p.Ala1389=) c.*3500A>T (n.*3500A>T) c.3585A>T (p.Ala1195=) c.3438A>T (p.Ala1146=) | |
| 1 | g.223005565G>A | CA344693437 | DISP1 | c.*3695G>A (n.*3695G>A) c.*3524G>A (n.*3524G>A) c.4168G>A (p.Glu1390Lys) c.*3501G>A (n.*3501G>A) c.3586G>A (p.Glu1196Lys) c.3439G>A (p.Glu1147Lys) | gnomAD v4 |
| 1 | g.223005565G>C | CA344693434 | DISP1 | c.*3695G>C (n.*3695G>C) c.*3524G>C (n.*3524G>C) c.4168G>C (p.Glu1390Gln) c.*3501G>C (n.*3501G>C) c.3586G>C (p.Glu1196Gln) c.3439G>C (p.Glu1147Gln) | |
| 1 | g.223005565G>T | CA344693432 | DISP1 | c.*3695G>T (n.*3695G>T) c.*3524G>T (n.*3524G>T) c.4168G>T (p.Glu1390Ter) c.*3501G>T (n.*3501G>T) c.3586G>T (p.Glu1196Ter) c.3439G>T (p.Glu1147Ter) | |
| 1 | g.223005566A>C | CA344693447 | DISP1 | c.*3696A>C (n.*3696A>C) c.*3525A>C (n.*3525A>C) c.4169A>C (p.Glu1390Ala) c.*3502A>C (n.*3502A>C) c.3587A>C (p.Glu1196Ala) c.3440A>C (p.Glu1147Ala) | |
| 1 | g.223005566A>G | CA344693439 | DISP1 | c.*3696A>G (n.*3696A>G) c.*3525A>G (n.*3525A>G) c.4169A>G (p.Glu1390Gly) c.*3502A>G (n.*3502A>G) c.3587A>G (p.Glu1196Gly) c.3440A>G (p.Glu1147Gly) | |
| 1 | g.223005566A>T | CA344693442 | DISP1 | c.*3696A>T (n.*3696A>T) c.*3525A>T (n.*3525A>T) c.4169A>T (p.Glu1390Val) c.*3502A>T (n.*3502A>T) c.3587A>T (p.Glu1196Val) c.3440A>T (p.Glu1147Val) | |
| 1 | g.223005567G>A | CA423723858 | DISP1 | c.*3697G>A (n.*3697G>A) c.*3526G>A (n.*3526G>A) c.4170G>A (p.Glu1390=) c.*3503G>A (n.*3503G>A) c.3588G>A (p.Glu1196=) c.3441G>A (p.Glu1147=) | dbSNP |
| 1 | g.223005567G>C | CA344693451 | DISP1 | c.*3697G>C (n.*3697G>C) c.*3526G>C (n.*3526G>C) c.4170G>C (p.Glu1390Asp) c.*3503G>C (n.*3503G>C) c.3588G>C (p.Glu1196Asp) c.3441G>C (p.Glu1147Asp) | |
| 1 | g.223005567G>T | CA344693454 | DISP1 | c.*3697G>T (n.*3697G>T) c.*3526G>T (n.*3526G>T) c.4170G>T (p.Glu1390Asp) c.*3503G>T (n.*3503G>T) c.3588G>T (p.Glu1196Asp) c.3441G>T (p.Glu1147Asp) | |
| 1 | g.223005568C>A | CA344693457 | DISP1 | c.*3698C>A (n.*3698C>A) c.*3527C>A (n.*3527C>A) c.4171C>A (p.Pro1391Thr) c.*3504C>A (n.*3504C>A) c.3589C>A (p.Pro1197Thr) c.3442C>A (p.Pro1148Thr) | |
| 1 | g.223005568C>G | CA344693460 | DISP1 | c.*3698C>G (n.*3698C>G) c.*3527C>G (n.*3527C>G) c.4171C>G (p.Pro1391Ala) c.*3504C>G (n.*3504C>G) c.3589C>G (p.Pro1197Ala) c.3442C>G (p.Pro1148Ala) | |
| 1 | g.223005568C>T | CA344693468 | DISP1 | c.*3698C>T (n.*3698C>T) c.*3527C>T (n.*3527C>T) c.4171C>T (p.Pro1391Ser) c.*3504C>T (n.*3504C>T) c.3589C>T (p.Pro1197Ser) c.3442C>T (p.Pro1148Ser) | |
| 1 | g.223005569C>A | CA344693471 | DISP1 | c.*3699C>A (n.*3699C>A) c.*3528C>A (n.*3528C>A) c.4172C>A (p.Pro1391Gln) c.*3505C>A (n.*3505C>A) c.3590C>A (p.Pro1197Gln) c.3443C>A (p.Pro1148Gln) | |
| 1 | g.223005569C>G | CA344693476 | DISP1 | c.*3699C>G (n.*3699C>G) c.*3528C>G (n.*3528C>G) c.4172C>G (p.Pro1391Arg) c.*3505C>G (n.*3505C>G) c.3590C>G (p.Pro1197Arg) c.3443C>G (p.Pro1148Arg) | |
| 1 | g.223005569C>T | CA344693473 | DISP1 | c.*3699C>T (n.*3699C>T) c.*3528C>T (n.*3528C>T) c.4172C>T (p.Pro1391Leu) c.*3505C>T (n.*3505C>T) c.3590C>T (p.Pro1197Leu) c.3443C>T (p.Pro1148Leu) | |
| 1 | g.223005570A= | CA1141965508 | DISP1 | c.*3700A= (n.*3700A=) c.*3529A= (n.*3529A=) c.4173A= (p.Pro1391=) c.*3506A= (n.*3506A=) c.3591A= (p.Pro1197=) c.3444A= (p.Pro1148=) | |
| 1 | g.223005570A>C | CA423723948 | DISP1 | c.*3700A>C (n.*3700A>C) c.*3529A>C (n.*3529A>C) c.4173A>C (p.Pro1391=) c.*3506A>C (n.*3506A>C) c.3591A>C (p.Pro1197=) c.3444A>C (p.Pro1148=) | |
| 1 | g.223005570A>G | CA1409546 | DISP1 | c.*3700A>G (n.*3700A>G) c.*3529A>G (n.*3529A>G) c.4173A>G (p.Pro1391=) c.*3506A>G (n.*3506A>G) c.3591A>G (p.Pro1197=) c.3444A>G (p.Pro1148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005570A>T | CA423723949 | DISP1 | c.*3700A>T (n.*3700A>T) c.*3529A>T (n.*3529A>T) c.4173A>T (p.Pro1391=) c.*3506A>T (n.*3506A>T) c.3591A>T (p.Pro1197=) c.3444A>T (p.Pro1148=) | |
| 1 | g.223005571T>A | CA344693480 | DISP1 | c.*3701T>A (n.*3701T>A) c.*3530T>A (n.*3530T>A) c.4174T>A (p.Ser1392Thr) c.*3507T>A (n.*3507T>A) c.3592T>A (p.Ser1198Thr) c.3445T>A (p.Ser1149Thr) | |
| 1 | g.223005571T>C | CA344693482 | DISP1 | c.*3701T>C (n.*3701T>C) c.*3530T>C (n.*3530T>C) c.4174T>C (p.Ser1392Pro) c.*3507T>C (n.*3507T>C) c.3592T>C (p.Ser1198Pro) c.3445T>C (p.Ser1149Pro) | |
| 1 | g.223005571T>G | CA344693484 | DISP1 | c.*3701T>G (n.*3701T>G) c.*3530T>G (n.*3530T>G) c.4174T>G (p.Ser1392Ala) c.*3507T>G (n.*3507T>G) c.3592T>G (p.Ser1198Ala) c.3445T>G (p.Ser1149Ala) | |
| 1 | g.223005572C>A | CA344693485 | DISP1 | c.*3702C>A (n.*3702C>A) c.*3531C>A (n.*3531C>A) c.4175C>A (p.Ser1392Ter) c.*3508C>A (n.*3508C>A) c.3593C>A (p.Ser1198Ter) c.3446C>A (p.Ser1149Ter) | |
| 1 | g.223005572C= | CA1141764890 | DISP1 | c.*3702C= (n.*3702C=) c.*3531C= (n.*3531C=) c.4175C= (p.Ser1392=) c.*3508C= (n.*3508C=) c.3593C= (p.Ser1198=) c.3446C= (p.Ser1149=) | |
| 1 | g.223005572C>G | CA344693486 | DISP1 | c.*3702C>G (n.*3702C>G) c.*3531C>G (n.*3531C>G) c.4175C>G (p.Ser1392Trp) c.*3508C>G (n.*3508C>G) c.3593C>G (p.Ser1198Trp) c.3446C>G (p.Ser1149Trp) | gnomAD v4 |
| 1 | g.223005572C>T | CA1409547 | DISP1 | c.*3702C>T (n.*3702C>T) c.*3531C>T (n.*3531C>T) c.4175C>T (p.Ser1392Leu) c.*3508C>T (n.*3508C>T) c.3593C>T (p.Ser1198Leu) c.3446C>T (p.Ser1149Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005573G>A | CA1409549 | DISP1 | c.*3703G>A (n.*3703G>A) c.*3532G>A (n.*3532G>A) c.4176G>A (p.Ser1392=) c.*3509G>A (n.*3509G>A) c.3594G>A (p.Ser1198=) c.3447G>A (p.Ser1149=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005573G>C | CA423723958 | DISP1 | c.*3703G>C (n.*3703G>C) c.*3532G>C (n.*3532G>C) c.4176G>C (p.Ser1392=) c.*3509G>C (n.*3509G>C) c.3594G>C (p.Ser1198=) c.3447G>C (p.Ser1149=) | |
| 1 | g.223005573G= | CA1142275069 | DISP1 | c.*3703G= (n.*3703G=) c.*3532G= (n.*3532G=) c.4176G= (p.Ser1392=) c.*3509G= (n.*3509G=) c.3594G= (p.Ser1198=) c.3447G= (p.Ser1149=) | |
| 1 | g.223005573G>T | CA1409548 | DISP1 | c.*3703G>T (n.*3703G>T) c.*3532G>T (n.*3532G>T) c.4176G>T (p.Ser1392=) c.*3509G>T (n.*3509G>T) c.3594G>T (p.Ser1198=) c.3447G>T (p.Ser1149=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005574T>A | CA344693489 | DISP1 | c.*3704T>A (n.*3704T>A) c.*3533T>A (n.*3533T>A) c.4177T>A (p.Ser1393Thr) c.*3510T>A (n.*3510T>A) c.3595T>A (p.Ser1199Thr) c.3448T>A (p.Ser1150Thr) | |
| 1 | g.223005574T>C | CA344693492 | DISP1 | c.*3704T>C (n.*3704T>C) c.*3533T>C (n.*3533T>C) c.4177T>C (p.Ser1393Pro) c.*3510T>C (n.*3510T>C) c.3595T>C (p.Ser1199Pro) c.3448T>C (p.Ser1150Pro) | |
| 1 | g.223005574T>G | CA344693498 | DISP1 | c.*3704T>G (n.*3704T>G) c.*3533T>G (n.*3533T>G) c.4177T>G (p.Ser1393Ala) c.*3510T>G (n.*3510T>G) c.3595T>G (p.Ser1199Ala) c.3448T>G (p.Ser1150Ala) | |
| 1 | g.223005575C>A | CA344693500 | DISP1 | c.*3705C>A (n.*3705C>A) c.*3534C>A (n.*3534C>A) c.4178C>A (p.Ser1393Ter) c.*3511C>A (n.*3511C>A) c.3596C>A (p.Ser1199Ter) c.3449C>A (p.Ser1150Ter) | |
| 1 | g.223005575C= | CA1223476788 | DISP1 | c.*3705C= (n.*3705C=) c.*3534C= (n.*3534C=) c.4178C= (p.Ser1393=) c.*3511C= (n.*3511C=) c.3596C= (p.Ser1199=) c.3449C= (p.Ser1150=) | |
| 1 | g.223005575C>G | CA344693502 | DISP1 | c.*3705C>G (n.*3705C>G) c.*3534C>G (n.*3534C>G) c.4178C>G (p.Ser1393Ter) c.*3511C>G (n.*3511C>G) c.3596C>G (p.Ser1199Ter) c.3449C>G (p.Ser1150Ter) | |
| 1 | g.223005575C>T | CA344693504 | DISP1 | c.*3705C>T (n.*3705C>T) c.*3534C>T (n.*3534C>T) c.4178C>T (p.Ser1393Leu) c.*3511C>T (n.*3511C>T) c.3596C>T (p.Ser1199Leu) c.3449C>T (p.Ser1150Leu) | dbSNP |
| 1 | g.223005576A= | CA1223476789 | DISP1 | c.*3706A= (n.*3706A=) c.*3535A= (n.*3535A=) c.4179A= (p.Ser1393=) c.*3512A= (n.*3512A=) c.3597A= (p.Ser1199=) c.3450A= (p.Ser1150=) | |
| 1 | g.223005576A>C | CA423723961 | DISP1 | c.*3706A>C (n.*3706A>C) c.*3535A>C (n.*3535A>C) c.4179A>C (p.Ser1393=) c.*3512A>C (n.*3512A>C) c.3597A>C (p.Ser1199=) c.3450A>C (p.Ser1150=) | |
| 1 | g.223005576A>G | CA423723962 | DISP1 | c.*3706A>G (n.*3706A>G) c.*3535A>G (n.*3535A>G) c.4179A>G (p.Ser1393=) c.*3512A>G (n.*3512A>G) c.3597A>G (p.Ser1199=) c.3450A>G (p.Ser1150=) | gnomAD v4 |
| 1 | g.223005576A>T | CA423723964 | DISP1 | c.*3706A>T (n.*3706A>T) c.*3535A>T (n.*3535A>T) c.4179A>T (p.Ser1393=) c.*3512A>T (n.*3512A>T) c.3597A>T (p.Ser1199=) c.3450A>T (p.Ser1150=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.223005577T>A | CA344693507 | DISP1 | c.*3707T>A (n.*3707T>A) c.*3536T>A (n.*3536T>A) c.4180T>A (p.Phe1394Ile) c.*3513T>A (n.*3513T>A) c.3598T>A (p.Phe1200Ile) c.3451T>A (p.Phe1151Ile) | |
| 1 | g.223005577T>C | CA344693510 | DISP1 | c.*3707T>C (n.*3707T>C) c.*3536T>C (n.*3536T>C) c.4180T>C (p.Phe1394Leu) c.*3513T>C (n.*3513T>C) c.3598T>C (p.Phe1200Leu) c.3451T>C (p.Phe1151Leu) | dbSNP gnomAD v4 |
| 1 | g.223005577T>G | CA344693512 | DISP1 | c.*3707T>G (n.*3707T>G) c.*3536T>G (n.*3536T>G) c.4180T>G (p.Phe1394Val) c.*3513T>G (n.*3513T>G) c.3598T>G (p.Phe1200Val) c.3451T>G (p.Phe1151Val) | |
| 1 | g.223005577T= | CA1223476790 | DISP1 | c.*3707T= (n.*3707T=) c.*3536T= (n.*3536T=) c.4180T= (p.Phe1394=) c.*3513T= (n.*3513T=) c.3598T= (p.Phe1200=) c.3451T= (p.Phe1151=) | |
| 1 | g.223005578T>A | CA344693526 | DISP1 | c.*3708T>A (n.*3708T>A) c.*3537T>A (n.*3537T>A) c.4181T>A (p.Phe1394Tyr) c.*3514T>A (n.*3514T>A) c.3599T>A (p.Phe1200Tyr) c.3452T>A (p.Phe1151Tyr) | |
| 1 | g.223005578T>C | CA344693531 | DISP1 | c.*3708T>C (n.*3708T>C) c.*3537T>C (n.*3537T>C) c.4181T>C (p.Phe1394Ser) c.*3514T>C (n.*3514T>C) c.3599T>C (p.Phe1200Ser) c.3452T>C (p.Phe1151Ser) | |
| 1 | g.223005578T>G | CA344693523 | DISP1 | c.*3708T>G (n.*3708T>G) c.*3537T>G (n.*3537T>G) c.4181T>G (p.Phe1394Cys) c.*3514T>G (n.*3514T>G) c.3599T>G (p.Phe1200Cys) c.3452T>G (p.Phe1151Cys) | |
| 1 | g.223005579T>A | CA344693533 | DISP1 | c.*3709T>A (n.*3709T>A) c.*3538T>A (n.*3538T>A) c.4182T>A (p.Phe1394Leu) c.*3515T>A (n.*3515T>A) c.3600T>A (p.Phe1200Leu) c.3453T>A (p.Phe1151Leu) | |
| 1 | g.223005579T>C | CA423723972 | DISP1 | c.*3709T>C (n.*3709T>C) c.*3538T>C (n.*3538T>C) c.4182T>C (p.Phe1394=) c.*3515T>C (n.*3515T>C) c.3600T>C (p.Phe1200=) c.3453T>C (p.Phe1151=) | |
| 1 | g.223005579T>G | CA344693534 | DISP1 | c.*3709T>G (n.*3709T>G) c.*3538T>G (n.*3538T>G) c.4182T>G (p.Phe1394Leu) c.*3515T>G (n.*3515T>G) c.3600T>G (p.Phe1200Leu) c.3453T>G (p.Phe1151Leu) | |
| 1 | g.223005581_223005584del | CA2650624388 | DISP1 | c.*3711_*3714del (n.*3711_*3714del) c.*3540_*3543del (n.*3540_*3543del) c.4184_4187del (p.Val1395AlafsTer27) c.*3517_*3520del (n.*3517_*3520del) c.3602_3605del (p.Val1201AlafsTer27) c.3455_3458del (p.Val1152AlafsTer27) | gnomAD v4 |
| 1 | g.223005580G>A | CA344693535 | DISP1 | c.*3710G>A (n.*3710G>A) c.*3539G>A (n.*3539G>A) c.4183G>A (p.Val1395Ile) c.*3516G>A (n.*3516G>A) c.3601G>A (p.Val1201Ile) c.3454G>A (p.Val1152Ile) | |
| 1 | g.223005580G>C | CA344693536 | DISP1 | c.*3710G>C (n.*3710G>C) c.*3539G>C (n.*3539G>C) c.4183G>C (p.Val1395Leu) c.*3516G>C (n.*3516G>C) c.3601G>C (p.Val1201Leu) c.3454G>C (p.Val1152Leu) | |
| 1 | g.223005580G>T | CA344693537 | DISP1 | c.*3710G>T (n.*3710G>T) c.*3539G>T (n.*3539G>T) c.4183G>T (p.Val1395Phe) c.*3516G>T (n.*3516G>T) c.3601G>T (p.Val1201Phe) c.3454G>T (p.Val1152Phe) | |
| 1 | g.223005581T>A | CA344693538 | DISP1 | c.*3711T>A (n.*3711T>A) c.*3540T>A (n.*3540T>A) c.4184T>A (p.Val1395Asp) c.*3517T>A (n.*3517T>A) c.3602T>A (p.Val1201Asp) c.3455T>A (p.Val1152Asp) | |
| 1 | g.223005581T>C | CA344693539 | DISP1 | c.*3711T>C (n.*3711T>C) c.*3540T>C (n.*3540T>C) c.4184T>C (p.Val1395Ala) c.*3517T>C (n.*3517T>C) c.3602T>C (p.Val1201Ala) c.3455T>C (p.Val1152Ala) | gnomAD v4 |
| 1 | g.223005581T>G | CA344693540 | DISP1 | c.*3711T>G (n.*3711T>G) c.*3540T>G (n.*3540T>G) c.4184T>G (p.Val1395Gly) c.*3517T>G (n.*3517T>G) c.3602T>G (p.Val1201Gly) c.3455T>G (p.Val1152Gly) | |
| 1 | g.223005582C>A | CA423723978 | DISP1 | c.*3712C>A (n.*3712C>A) c.*3541C>A (n.*3541C>A) c.4185C>A (p.Val1395=) c.*3518C>A (n.*3518C>A) c.3603C>A (p.Val1201=) c.3456C>A (p.Val1152=) | |
| 1 | g.223005582C= | CA1223476791 | DISP1 | c.*3712C= (n.*3712C=) c.*3541C= (n.*3541C=) c.4185C= (p.Val1395=) c.*3518C= (n.*3518C=) c.3603C= (p.Val1201=) c.3456C= (p.Val1152=) | |
| 1 | g.223005582C>G | CA423723980 | DISP1 | c.*3712C>G (n.*3712C>G) c.*3541C>G (n.*3541C>G) c.4185C>G (p.Val1395=) c.*3518C>G (n.*3518C>G) c.3603C>G (p.Val1201=) c.3456C>G (p.Val1152=) | dbSNP |
| 1 | g.223005582C>T | CA1409550 | DISP1 | c.*3712C>T (n.*3712C>T) c.*3541C>T (n.*3541C>T) c.4185C>T (p.Val1395=) c.*3518C>T (n.*3518C>T) c.3603C>T (p.Val1201=) c.3456C>T (p.Val1152=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.223005583T>A | CA344693542 | DISP1 | c.*3713T>A (n.*3713T>A) c.*3542T>A (n.*3542T>A) c.4186T>A (p.Cys1396Ser) c.*3519T>A (n.*3519T>A) c.3604T>A (p.Cys1202Ser) c.3457T>A (p.Cys1153Ser) | |
| 1 | g.223005583T>C | CA344693544 | DISP1 | c.*3713T>C (n.*3713T>C) c.*3542T>C (n.*3542T>C) c.4186T>C (p.Cys1396Arg) c.*3519T>C (n.*3519T>C) c.3604T>C (p.Cys1202Arg) c.3457T>C (p.Cys1153Arg) | |
| 1 | g.223005583T>G | CA344693547 | DISP1 | c.*3713T>G (n.*3713T>G) c.*3542T>G (n.*3542T>G) c.4186T>G (p.Cys1396Gly) c.*3519T>G (n.*3519T>G) c.3604T>G (p.Cys1202Gly) c.3457T>G (p.Cys1153Gly) | |
| 1 | g.223005584G>A | CA344693561 | DISP1 | c.*3714G>A (n.*3714G>A) c.*3543G>A (n.*3543G>A) c.4187G>A (p.Cys1396Tyr) c.*3520G>A (n.*3520G>A) c.3605G>A (p.Cys1202Tyr) c.3458G>A (p.Cys1153Tyr) | |
| 1 | g.223005584G>C | CA344693558 | DISP1 | c.*3714G>C (n.*3714G>C) c.*3543G>C (n.*3543G>C) c.4187G>C (p.Cys1396Ser) c.*3520G>C (n.*3520G>C) c.3605G>C (p.Cys1202Ser) c.3458G>C (p.Cys1153Ser) | |
| 1 | g.223005584G>T | CA344693552 | DISP1 | c.*3714G>T (n.*3714G>T) c.*3543G>T (n.*3543G>T) c.4187G>T (p.Cys1396Phe) c.*3520G>T (n.*3520G>T) c.3605G>T (p.Cys1202Phe) c.3458G>T (p.Cys1153Phe) | |
| 1 | g.223005585C>A | CA344693563 | DISP1 | c.*3715C>A (n.*3715C>A) c.*3544C>A (n.*3544C>A) c.4188C>A (p.Cys1396Ter) c.*3521C>A (n.*3521C>A) c.3606C>A (p.Cys1202Ter) c.3459C>A (p.Cys1153Ter) | |
| 1 | g.223005585C>G | CA344693565 | DISP1 | c.*3715C>G (n.*3715C>G) c.*3544C>G (n.*3544C>G) c.4188C>G (p.Cys1396Trp) c.*3521C>G (n.*3521C>G) c.3606C>G (p.Cys1202Trp) c.3459C>G (p.Cys1153Trp) | |
| 1 | g.223005585C>T | CA423723988 | DISP1 | c.*3715C>T (n.*3715C>T) c.*3544C>T (n.*3544C>T) c.4188C>T (p.Cys1396=) c.*3521C>T (n.*3521C>T) c.3606C>T (p.Cys1202=) c.3459C>T (p.Cys1153=) | gnomAD v4 |
| 1 | g.223005586A>C | CA423723991 | DISP1 | c.*3716A>C (n.*3716A>C) c.*3545A>C (n.*3545A>C) c.4189A>C (p.Arg1397=) c.*3522A>C (n.*3522A>C) c.3607A>C (p.Arg1203=) c.3460A>C (p.Arg1154=) | |
| 1 | g.223005586A>G | CA344693574 | DISP1 | c.*3716A>G (n.*3716A>G) c.*3545A>G (n.*3545A>G) c.4189A>G (p.Arg1397Gly) c.*3522A>G (n.*3522A>G) c.3607A>G (p.Arg1203Gly) c.3460A>G (p.Arg1154Gly) | ClinVar |
| 1 | g.223005586A>T | CA344693575 | DISP1 | c.*3716A>T (n.*3716A>T) c.*3545A>T (n.*3545A>T) c.4189A>T (p.Arg1397Ter) c.*3522A>T (n.*3522A>T) c.3607A>T (p.Arg1203Ter) c.3460A>T (p.Arg1154Ter) | |
| 1 | g.223005587G>A | CA344693577 | DISP1 | c.*3717G>A (n.*3717G>A) c.*3546G>A (n.*3546G>A) c.4190G>A (p.Arg1397Lys) c.*3523G>A (n.*3523G>A) c.3608G>A (p.Arg1203Lys) c.3461G>A (p.Arg1154Lys) | gnomAD v4 |
| 1 | g.223005587G>C | CA344693579 | DISP1 | c.*3717G>C (n.*3717G>C) c.*3546G>C (n.*3546G>C) c.4190G>C (p.Arg1397Thr) c.*3523G>C (n.*3523G>C) c.3608G>C (p.Arg1203Thr) c.3461G>C (p.Arg1154Thr) | |
| 1 | g.223005587G>T | CA344693582 | DISP1 | c.*3717G>T (n.*3717G>T) c.*3546G>T (n.*3546G>T) c.4190G>T (p.Arg1397Ile) c.*3523G>T (n.*3523G>T) c.3608G>T (p.Arg1203Ile) c.3461G>T (p.Arg1154Ile) | |
| 1 | g.223005588A>C | CA344693584 | DISP1 | c.*3718A>C (n.*3718A>C) c.*3547A>C (n.*3547A>C) c.4191A>C (p.Arg1397Ser) c.*3524A>C (n.*3524A>C) c.3609A>C (p.Arg1203Ser) c.3462A>C (p.Arg1154Ser) | |
| 1 | g.223005588A>G | CA423723997 | DISP1 | c.*3718A>G (n.*3718A>G) c.*3547A>G (n.*3547A>G) c.4191A>G (p.Arg1397=) c.*3524A>G (n.*3524A>G) c.3609A>G (p.Arg1203=) c.3462A>G (p.Arg1154=) | |
| 1 | g.223005588A>T | CA344693586 | DISP1 | c.*3718A>T (n.*3718A>T) c.*3547A>T (n.*3547A>T) c.4191A>T (p.Arg1397Ser) c.*3524A>T (n.*3524A>T) c.3609A>T (p.Arg1203Ser) c.3462A>T (p.Arg1154Ser) | |
| 1 | g.223005589A= | CA1223476792 | DISP1 | c.*3719A= (n.*3719A=) c.*3548A= (n.*3548A=) c.4192A= (p.Ser1398=) c.*3525A= (n.*3525A=) c.3610A= (p.Ser1204=) c.3463A= (p.Ser1155=) | |
| 1 | g.223005589A>C | CA344693589 | DISP1 | c.*3719A>C (n.*3719A>C) c.*3548A>C (n.*3548A>C) c.4192A>C (p.Ser1398Arg) c.*3525A>C (n.*3525A>C) c.3610A>C (p.Ser1204Arg) c.3463A>C (p.Ser1155Arg) | dbSNP |
| 1 | g.223005589A>G | CA344693591 | DISP1 | c.*3719A>G (n.*3719A>G) c.*3548A>G (n.*3548A>G) c.4192A>G (p.Ser1398Gly) c.*3525A>G (n.*3525A>G) c.3610A>G (p.Ser1204Gly) c.3463A>G (p.Ser1155Gly) | gnomAD v4 |
| 1 | g.223005589A>T | CA344693592 | DISP1 | c.*3719A>T (n.*3719A>T) c.*3548A>T (n.*3548A>T) c.4192A>T (p.Ser1398Cys) c.*3525A>T (n.*3525A>T) c.3610A>T (p.Ser1204Cys) c.3463A>T (p.Ser1155Cys) | |
| 1 | g.223005590G>A | CA249345 | DISP1 | c.*3720G>A (n.*3720G>A) c.*3549G>A (n.*3549G>A) c.4193G>A (p.Ser1398Asn) c.*3526G>A (n.*3526G>A) c.3611G>A (p.Ser1204Asn) c.3464G>A (p.Ser1155Asn) | ClinVar dbSNP |
| 1 | g.223005590G>C | CA344693594 | DISP1 | c.*3720G>C (n.*3720G>C) c.*3549G>C (n.*3549G>C) c.4193G>C (p.Ser1398Thr) c.*3526G>C (n.*3526G>C) c.3611G>C (p.Ser1204Thr) c.3464G>C (p.Ser1155Thr) | |
| 1 | g.223005590G= | CA1223476793 | DISP1 | c.*3720G= (n.*3720G=) c.*3549G= (n.*3549G=) c.4193G= (p.Ser1398=) c.*3526G= (n.*3526G=) c.3611G= (p.Ser1204=) c.3464G= (p.Ser1155=) | |
| 1 | g.223005590G>T | CA344693593 | DISP1 | c.*3720G>T (n.*3720G>T) c.*3549G>T (n.*3549G>T) c.4193G>T (p.Ser1398Ile) c.*3526G>T (n.*3526G>T) c.3611G>T (p.Ser1204Ile) c.3464G>T (p.Ser1155Ile) | gnomAD v4 |