Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.95453469C= | CA1865583539 | PTCH1 | c.3251+9G= (n.3251+9G=) c.3446+9G= (n.3446+9G=) c.*1757+9G= (n.*1757+9G=) c.2996+9G= (n.2996+9G=) n.780+9G= c.3449+9G= (n.3449+9G=) c.3227G= (n.3227G=) c.3293+9G= (n.3293+9G=) c.2609+9G= (n.2609+9G=) n.3471+9G= n.4188+9G= | |
9 | g.95453469C>T | CA658657881 | PTCH1 | c.3251+9G>A (n.3251+9G>A) c.3446+9G>A (n.3446+9G>A) c.*1757+9G>A (n.*1757+9G>A) c.2996+9G>A (n.2996+9G>A) n.780+9G>A c.3449+9G>A (n.3449+9G>A) c.3227G>A (n.3227G>A) c.3293+9G>A (n.3293+9G>A) c.2609+9G>A (n.2609+9G>A) n.3471+9G>A n.4188+9G>A | ClinVar dbSNP gnomAD v4 |
9 | g.95453470C>T | CA2499220027 | PTCH1 | c.3251+8G>A (n.3251+8G>A) c.3446+8G>A (n.3446+8G>A) c.*1757+8G>A (n.*1757+8G>A) c.2996+8G>A (n.2996+8G>A) n.780+8G>A c.3449+8G>A (n.3449+8G>A) c.3226G>A (n.3226G>A) c.3293+8G>A (n.3293+8G>A) c.2609+8G>A (n.2609+8G>A) n.3471+8G>A n.4188+8G>A | ClinVar dbSNP |
9 | g.95453471T>A | CA335805 | PTCH1 | c.3251+7A>T (n.3251+7A>T) c.3446+7A>T (n.3446+7A>T) c.*1757+7A>T (n.*1757+7A>T) c.2996+7A>T (n.2996+7A>T) n.780+7A>T c.3449+7A>T (n.3449+7A>T) c.3225A>T (n.3225A>T) c.3293+7A>T (n.3293+7A>T) c.2609+7A>T (n.2609+7A>T) n.3471+7A>T n.4188+7A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.95453471T= | CA1865583543 | PTCH1 | c.3251+7A= (n.3251+7A=) c.3446+7A= (n.3446+7A=) c.*1757+7A= (n.*1757+7A=) c.2996+7A= (n.2996+7A=) n.780+7A= c.3449+7A= (n.3449+7A=) c.3225A= (n.3225A=) c.3293+7A= (n.3293+7A=) c.2609+7A= (n.2609+7A=) n.3471+7A= n.4188+7A= | |
9 | g.95453472G>A | CA2568755369 | PTCH1 | c.3251+6C>T (n.3251+6C>T) c.3446+6C>T (n.3446+6C>T) c.*1757+6C>T (n.*1757+6C>T) c.2996+6C>T (n.2996+6C>T) n.780+6C>T c.3449+6C>T (n.3449+6C>T) c.3224C>T (n.3224C>T) c.3293+6C>T (n.3293+6C>T) c.2609+6C>T (n.2609+6C>T) n.3471+6C>T n.4188+6C>T | ClinVar dbSNP gnomAD v4 |
9 | g.95453475T>C | CA196571004 | PTCH1 | c.3251+3A>G (n.3251+3A>G) c.3446+3A>G (n.3446+3A>G) c.*1757+3A>G (n.*1757+3A>G) c.2996+3A>G (n.2996+3A>G) n.780+3A>G c.3449+3A>G (n.3449+3A>G) c.3221A>G (n.3221A>G) c.3293+3A>G (n.3293+3A>G) c.2609+3A>G (n.2609+3A>G) n.3471+3A>G n.4188+3A>G | ClinVar dbSNP gnomAD v4 |
9 | g.95453475T= | CA1865583548 | PTCH1 | c.3251+3A= (n.3251+3A=) c.3446+3A= (n.3446+3A=) c.*1757+3A= (n.*1757+3A=) c.2996+3A= (n.2996+3A=) n.780+3A= c.3449+3A= (n.3449+3A=) c.3221A= (n.3221A=) c.3293+3A= (n.3293+3A=) c.2609+3A= (n.2609+3A=) n.3471+3A= n.4188+3A= | |
9 | g.95453476A>C | CA374111642 | PTCH1 | c.3251+2T>G (n.3251+2T>G) c.3446+2T>G (n.3446+2T>G) c.*1757+2T>G (n.*1757+2T>G) c.2996+2T>G (n.2996+2T>G) n.780+2T>G c.3449+2T>G (n.3449+2T>G) c.3220T>G (n.3220T>G) c.3293+2T>G (n.3293+2T>G) c.2609+2T>G (n.2609+2T>G) n.3471+2T>G n.4188+2T>G | |
9 | g.95453476A>G | CA374111643 | PTCH1 | c.3251+2T>C (n.3251+2T>C) c.3446+2T>C (n.3446+2T>C) c.*1757+2T>C (n.*1757+2T>C) c.2996+2T>C (n.2996+2T>C) n.780+2T>C c.3449+2T>C (n.3449+2T>C) c.3220T>C (n.3220T>C) c.3293+2T>C (n.3293+2T>C) c.2609+2T>C (n.2609+2T>C) n.3471+2T>C n.4188+2T>C | |
9 | g.95453476A>T | CA374111644 | PTCH1 | c.3251+2T>A (n.3251+2T>A) c.3446+2T>A (n.3446+2T>A) c.*1757+2T>A (n.*1757+2T>A) c.2996+2T>A (n.2996+2T>A) n.780+2T>A c.3449+2T>A (n.3449+2T>A) c.3220T>A (n.3220T>A) c.3293+2T>A (n.3293+2T>A) c.2609+2T>A (n.2609+2T>A) n.3471+2T>A n.4188+2T>A | |
9 | g.95453477C>A | CA374111646 | PTCH1 | c.3251+1G>T (n.3251+1G>T) c.3446+1G>T (n.3446+1G>T) c.*1757+1G>T (n.*1757+1G>T) c.2996+1G>T (n.2996+1G>T) n.780+1G>T c.3449+1G>T (n.3449+1G>T) c.3219G>T (n.3219G>T) c.3293+1G>T (n.3293+1G>T) c.2609+1G>T (n.2609+1G>T) n.3471+1G>T n.4188+1G>T | |
9 | g.95453477C= | CA1865583557 | PTCH1 | c.3251+1G= (n.3251+1G=) c.3446+1G= (n.3446+1G=) c.*1757+1G= (n.*1757+1G=) c.2996+1G= (n.2996+1G=) n.780+1G= c.3449+1G= (n.3449+1G=) c.3219G= (n.3219G=) c.3293+1G= (n.3293+1G=) c.2609+1G= (n.2609+1G=) n.3471+1G= n.4188+1G= | |
9 | g.95453477C>G | CA374111645 | PTCH1 | c.3251+1G>C (n.3251+1G>C) c.3446+1G>C (n.3446+1G>C) c.*1757+1G>C (n.*1757+1G>C) c.2996+1G>C (n.2996+1G>C) n.780+1G>C c.3449+1G>C (n.3449+1G>C) c.3219G>C (n.3219G>C) c.3293+1G>C (n.3293+1G>C) c.2609+1G>C (n.2609+1G>C) n.3471+1G>C n.4188+1G>C | |
9 | g.95453477C>T | CA336067 | PTCH1 | c.3251+1G>A (n.3251+1G>A) c.3446+1G>A (n.3446+1G>A) c.*1757+1G>A (n.*1757+1G>A) c.2996+1G>A (n.2996+1G>A) n.780+1G>A c.3449+1G>A (n.3449+1G>A) c.3219G>A (n.3219G>A) c.3293+1G>A (n.3293+1G>A) c.2609+1G>A (n.2609+1G>A) n.3471+1G>A n.4188+1G>A | ClinVar dbSNP COSMIC |
9 | g.95453478C>A | CA374111647 | PTCH1 | c.3251G>T (p.Arg1084Met) c.3446G>T (p.Arg1149Met) c.*1757G>T (n.*1757G>T) c.2996G>T (p.Arg999Met) n.780G>T c.3449G>T (p.Arg1150Met) c.3218G>T (n.3218G>T) c.3293G>T (p.Arg1098Met) c.2609G>T (p.Arg870Met) n.3471G>T n.4188G>T | |
9 | g.95453478C>G | CA374111648 | PTCH1 | c.3251G>C (p.Arg1084Thr) c.3446G>C (p.Arg1149Thr) c.*1757G>C (n.*1757G>C) c.2996G>C (p.Arg999Thr) n.780G>C c.3449G>C (p.Arg1150Thr) c.3218G>C (n.3218G>C) c.3293G>C (p.Arg1098Thr) c.2609G>C (p.Arg870Thr) n.3471G>C n.4188G>C | |
9 | g.95453478C>T | CA374111649 | PTCH1 | c.3251G>A (p.Arg1084Lys) c.3446G>A (p.Arg1149Lys) c.*1757G>A (n.*1757G>A) c.2996G>A (p.Arg999Lys) n.780G>A c.3449G>A (p.Arg1150Lys) c.3218G>A (n.3218G>A) c.3293G>A (p.Arg1098Lys) c.2609G>A (p.Arg870Lys) n.3471G>A n.4188G>A | ClinVar gnomAD v4 |
9 | g.95453479T>A | CA374111650 | PTCH1 | c.3250A>T (p.Arg1084Trp) c.3445A>T (p.Arg1149Trp) c.*1756A>T (n.*1756A>T) c.2995A>T (p.Arg999Trp) n.779A>T c.3448A>T (p.Arg1150Trp) c.3217A>T (n.3217A>T) c.3292A>T (p.Arg1098Trp) c.2608A>T (p.Arg870Trp) n.3470A>T n.4187A>T | |
9 | g.95453479T>C | CA5138153 | PTCH1 | c.3250A>G (p.Arg1084Gly) c.3445A>G (p.Arg1149Gly) c.*1756A>G (n.*1756A>G) c.2995A>G (p.Arg999Gly) n.779A>G c.3448A>G (p.Arg1150Gly) c.3217A>G (n.3217A>G) c.3292A>G (p.Arg1098Gly) c.2608A>G (p.Arg870Gly) n.3470A>G n.4187A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.95453479T>G | CA466107498 | PTCH1 | c.3250A>C (p.Arg1084=) c.3445A>C (p.Arg1149=) c.*1756A>C (n.*1756A>C) c.2995A>C (p.Arg999=) n.779A>C c.3448A>C (p.Arg1150=) c.3217A>C (n.3217A>C) c.3292A>C (p.Arg1098=) c.2608A>C (p.Arg870=) n.3470A>C n.4187A>C | |
9 | g.95453479T= | CA1865583576 | PTCH1 | c.3250A= (p.Arg1084=) c.3445A= (p.Arg1149=) c.*1756A= (n.*1756A=) c.2995A= (p.Arg999=) n.779A= c.3448A= (p.Arg1150=) c.3217A= (n.3217A=) c.3292A= (p.Arg1098=) c.2608A= (p.Arg870=) n.3470A= n.4187A= | |
9 | g.95453480G>A | CA466107502 | PTCH1 | c.3249C>T (p.Val1083=) c.3444C>T (p.Val1148=) c.*1755C>T (n.*1755C>T) c.2994C>T (p.Val998=) n.778C>T c.3447C>T (p.Val1149=) c.3216C>T (n.3216C>T) c.3291C>T (p.Val1097=) c.2607C>T (p.Val869=) n.3469C>T n.4186C>T | |
9 | g.95453480G>C | CA466107504 | PTCH1 | c.3249C>G (p.Val1083=) c.3444C>G (p.Val1148=) c.*1755C>G (n.*1755C>G) c.2994C>G (p.Val998=) n.778C>G c.3447C>G (p.Val1149=) c.3216C>G (n.3216C>G) c.3291C>G (p.Val1097=) c.2607C>G (p.Val869=) n.3469C>G n.4186C>G | |
9 | g.95453480G>T | CA466107507 | PTCH1 | c.3249C>A (p.Val1083=) c.3444C>A (p.Val1148=) c.*1755C>A (n.*1755C>A) c.2994C>A (p.Val998=) n.778C>A c.3447C>A (p.Val1149=) c.3216C>A (n.3216C>A) c.3291C>A (p.Val1097=) c.2607C>A (p.Val869=) n.3469C>A n.4186C>A | |
9 | g.95453481A>C | CA374111651 | PTCH1 | c.3248T>G (p.Val1083Gly) c.3443T>G (p.Val1148Gly) c.*1754T>G (n.*1754T>G) c.2993T>G (p.Val998Gly) n.777T>G c.3446T>G (p.Val1149Gly) c.3215T>G (n.3215T>G) c.3290T>G (p.Val1097Gly) c.2606T>G (p.Val869Gly) n.3468T>G n.4185T>G | |
9 | g.95453481A>G | CA374111653 | PTCH1 | c.3248T>C (p.Val1083Ala) c.3443T>C (p.Val1148Ala) c.*1754T>C (n.*1754T>C) c.2993T>C (p.Val998Ala) n.777T>C c.3446T>C (p.Val1149Ala) c.3215T>C (n.3215T>C) c.3290T>C (p.Val1097Ala) c.2606T>C (p.Val869Ala) n.3468T>C n.4185T>C | |
9 | g.95453481A>T | CA374111652 | PTCH1 | c.3248T>A (p.Val1083Asp) c.3443T>A (p.Val1148Asp) c.*1754T>A (n.*1754T>A) c.2993T>A (p.Val998Asp) n.777T>A c.3446T>A (p.Val1149Asp) c.3215T>A (n.3215T>A) c.3290T>A (p.Val1097Asp) c.2606T>A (p.Val869Asp) n.3468T>A n.4185T>A | ClinVar |
9 | g.95453482C>A | CA374111654 | PTCH1 | c.3247G>T (p.Val1083Phe) c.3442G>T (p.Val1148Phe) c.*1753G>T (n.*1753G>T) c.2992G>T (p.Val998Phe) n.776G>T c.3445G>T (p.Val1149Phe) c.3214G>T (n.3214G>T) c.3289G>T (p.Val1097Phe) c.2605G>T (p.Val869Phe) n.3467G>T n.4184G>T | |
9 | g.95453482C= | CA1865583586 | PTCH1 | c.3247G= (p.Val1083=) c.3442G= (p.Val1148=) c.*1753G= (n.*1753G=) c.2992G= (p.Val998=) n.776G= c.3445G= (p.Val1149=) c.3214G= (n.3214G=) c.3289G= (p.Val1097=) c.2605G= (p.Val869=) n.3467G= n.4184G= | |
9 | g.95453482C>G | CA374111655 | PTCH1 | c.3247G>C (p.Val1083Leu) c.3442G>C (p.Val1148Leu) c.*1753G>C (n.*1753G>C) c.2992G>C (p.Val998Leu) n.776G>C c.3445G>C (p.Val1149Leu) c.3214G>C (n.3214G>C) c.3289G>C (p.Val1097Leu) c.2605G>C (p.Val869Leu) n.3467G>C n.4184G>C | |
9 | g.95453482C>T | CA5138154 | PTCH1 | c.3247G>A (p.Val1083Ile) c.3442G>A (p.Val1148Ile) c.*1753G>A (n.*1753G>A) c.2992G>A (p.Val998Ile) n.776G>A c.3445G>A (p.Val1149Ile) c.3214G>A (n.3214G>A) c.3289G>A (p.Val1097Ile) c.2605G>A (p.Val869Ile) n.3467G>A n.4184G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.95453483A= | CA1865583593 | PTCH1 | c.3246T= (p.Ile1082=) c.3441T= (p.Ile1147=) c.*1752T= (n.*1752T=) c.2991T= (p.Ile997=) n.775T= c.3444T= (p.Ile1148=) c.3213T= (n.3213T=) c.3288T= (p.Ile1096=) c.2604T= (p.Ile868=) n.3466T= n.4183T= | |
9 | g.95453483A>C | CA374111656 | PTCH1 | c.3246T>G (p.Ile1082Met) c.3441T>G (p.Ile1147Met) c.*1752T>G (n.*1752T>G) c.2991T>G (p.Ile997Met) n.775T>G c.3444T>G (p.Ile1148Met) c.3213T>G (n.3213T>G) c.3288T>G (p.Ile1096Met) c.2604T>G (p.Ile868Met) n.3466T>G n.4183T>G | ClinVar dbSNP gnomAD v4 |
9 | g.95453483A>G | CA466107516 | PTCH1 | c.3246T>C (p.Ile1082=) c.3441T>C (p.Ile1147=) c.*1752T>C (n.*1752T>C) c.2991T>C (p.Ile997=) n.775T>C c.3444T>C (p.Ile1148=) c.3213T>C (n.3213T>C) c.3288T>C (p.Ile1096=) c.2604T>C (p.Ile868=) n.3466T>C n.4183T>C | ClinVar dbSNP |
9 | g.95453483A>T | CA466107518 | PTCH1 | c.3246T>A (p.Ile1082=) c.3441T>A (p.Ile1147=) c.*1752T>A (n.*1752T>A) c.2991T>A (p.Ile997=) n.775T>A c.3444T>A (p.Ile1148=) c.3213T>A (n.3213T>A) c.3288T>A (p.Ile1096=) c.2604T>A (p.Ile868=) n.3466T>A n.4183T>A | |
9 | g.95453485_95453488del | CA2499220028 | PTCH1 | c.3243_3246del (p.Phe1081LeufsTer?) c.3438_3441del (p.Phe1146LeufsTer?) c.*1749_*1752del (n.*1749_*1752del) c.2988_2991del (p.Phe996LeufsTer?) n.772_775del c.3441_3444del (p.Phe1147LeufsTer?) c.3210_3213del (n.3210_3213del) c.3285_3288del (p.Phe1095LeufsTer?) c.2601_2604del (p.Phe867LeufsTer?) n.3463_3466del n.4180_4183del | ClinVar dbSNP |
9 | g.95453484A= | CA1865583600 | PTCH1 | c.3245T= (p.Ile1082=) c.3440T= (p.Ile1147=) c.*1751T= (n.*1751T=) c.2990T= (p.Ile997=) n.774T= c.3443T= (p.Ile1148=) c.3212T= (n.3212T=) c.3287T= (p.Ile1096=) c.2603T= (p.Ile868=) n.3465T= n.4182T= | |
9 | g.95453484A>C | CA374111657 | PTCH1 | c.3245T>G (p.Ile1082Ser) c.3440T>G (p.Ile1147Ser) c.*1751T>G (n.*1751T>G) c.2990T>G (p.Ile997Ser) n.774T>G c.3443T>G (p.Ile1148Ser) c.3212T>G (n.3212T>G) c.3287T>G (p.Ile1096Ser) c.2603T>G (p.Ile868Ser) n.3465T>G n.4182T>G | ClinVar |
9 | g.95453484A>G | CA374111658 | PTCH1 | c.3245T>C (p.Ile1082Thr) c.3440T>C (p.Ile1147Thr) c.*1751T>C (n.*1751T>C) c.2990T>C (p.Ile997Thr) n.774T>C c.3443T>C (p.Ile1148Thr) c.3212T>C (n.3212T>C) c.3287T>C (p.Ile1096Thr) c.2603T>C (p.Ile868Thr) n.3465T>C n.4182T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.95453484A>T | CA374111659 | PTCH1 | c.3245T>A (p.Ile1082Asn) c.3440T>A (p.Ile1147Asn) c.*1751T>A (n.*1751T>A) c.2990T>A (p.Ile997Asn) n.774T>A c.3443T>A (p.Ile1148Asn) c.3212T>A (n.3212T>A) c.3287T>A (p.Ile1096Asn) c.2603T>A (p.Ile868Asn) n.3465T>A n.4182T>A | ClinVar |
9 | g.95453485T>A | CA374111660 | PTCH1 | c.3244A>T (p.Ile1082Phe) c.3439A>T (p.Ile1147Phe) c.*1750A>T (n.*1750A>T) c.2989A>T (p.Ile997Phe) n.773A>T c.3442A>T (p.Ile1148Phe) c.3211A>T (n.3211A>T) c.3286A>T (p.Ile1096Phe) c.2602A>T (p.Ile868Phe) n.3464A>T n.4181A>T | gnomAD v4 |
9 | g.95453485T>C | CA350753 | PTCH1 | c.3244A>G (p.Ile1082Val) c.3439A>G (p.Ile1147Val) c.*1750A>G (n.*1750A>G) c.2989A>G (p.Ile997Val) n.773A>G c.3442A>G (p.Ile1148Val) c.3211A>G (n.3211A>G) c.3286A>G (p.Ile1096Val) c.2602A>G (p.Ile868Val) n.3464A>G n.4181A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.95453485T>G | CA374111661 | PTCH1 | c.3244A>C (p.Ile1082Leu) c.3439A>C (p.Ile1147Leu) c.*1750A>C (n.*1750A>C) c.2989A>C (p.Ile997Leu) n.773A>C c.3442A>C (p.Ile1148Leu) c.3211A>C (n.3211A>C) c.3286A>C (p.Ile1096Leu) c.2602A>C (p.Ile868Leu) n.3464A>C n.4181A>C | ClinVar |
9 | g.95453485T= | CA1865583609 | PTCH1 | c.3244A= (p.Ile1082=) c.3439A= (p.Ile1147=) c.*1750A= (n.*1750A=) c.2989A= (p.Ile997=) n.773A= c.3442A= (p.Ile1148=) c.3211A= (n.3211A=) c.3286A= (p.Ile1096=) c.2602A= (p.Ile868=) n.3464A= n.4181A= | |
9 | g.95453486G>A | CA466107526 | PTCH1 | c.3243C>T (p.Phe1081=) c.3438C>T (p.Phe1146=) c.*1749C>T (n.*1749C>T) c.2988C>T (p.Phe996=) n.772C>T c.3441C>T (p.Phe1147=) c.3210C>T (n.3210C>T) c.3285C>T (p.Phe1095=) c.2601C>T (p.Phe867=) n.3463C>T n.4180C>T | |
9 | g.95453486G>C | CA374111662 | PTCH1 | c.3243C>G (p.Phe1081Leu) c.3438C>G (p.Phe1146Leu) c.*1749C>G (n.*1749C>G) c.2988C>G (p.Phe996Leu) n.772C>G c.3441C>G (p.Phe1147Leu) c.3210C>G (n.3210C>G) c.3285C>G (p.Phe1095Leu) c.2601C>G (p.Phe867Leu) n.3463C>G n.4180C>G | |
9 | g.95453486G>T | CA374111663 | PTCH1 | c.3243C>A (p.Phe1081Leu) c.3438C>A (p.Phe1146Leu) c.*1749C>A (n.*1749C>A) c.2988C>A (p.Phe996Leu) n.772C>A c.3441C>A (p.Phe1147Leu) c.3210C>A (n.3210C>A) c.3285C>A (p.Phe1095Leu) c.2601C>A (p.Phe867Leu) n.3463C>A n.4180C>A | |
9 | g.95453487A= | CA1865583618 | PTCH1 | c.3242T= (p.Phe1081=) c.3437T= (p.Phe1146=) c.*1748T= (n.*1748T=) c.2987T= (p.Phe996=) n.771T= c.3440T= (p.Phe1147=) c.3209T= (n.3209T=) c.3284T= (p.Phe1095=) c.2600T= (p.Phe867=) n.3462T= n.4179T= | |
9 | g.95453487A>C | CA374111666 | PTCH1 | c.3242T>G (p.Phe1081Cys) c.3437T>G (p.Phe1146Cys) c.*1748T>G (n.*1748T>G) c.2987T>G (p.Phe996Cys) n.771T>G c.3440T>G (p.Phe1147Cys) c.3209T>G (n.3209T>G) c.3284T>G (p.Phe1095Cys) c.2600T>G (p.Phe867Cys) n.3462T>G n.4179T>G | |
9 | g.95453487A>G | CA374111664 | PTCH1 | c.3242T>C (p.Phe1081Ser) c.3437T>C (p.Phe1146Ser) c.*1748T>C (n.*1748T>C) c.2987T>C (p.Phe996Ser) n.771T>C c.3440T>C (p.Phe1147Ser) c.3209T>C (n.3209T>C) c.3284T>C (p.Phe1095Ser) c.2600T>C (p.Phe867Ser) n.3462T>C n.4179T>C | ClinVar dbSNP |
9 | g.95453487A>T | CA374111665 | PTCH1 | c.3242T>A (p.Phe1081Tyr) c.3437T>A (p.Phe1146Tyr) c.*1748T>A (n.*1748T>A) c.2987T>A (p.Phe996Tyr) n.771T>A c.3440T>A (p.Phe1147Tyr) c.3209T>A (n.3209T>A) c.3284T>A (p.Phe1095Tyr) c.2600T>A (p.Phe867Tyr) n.3462T>A n.4179T>A | |
9 | g.95453488A>C | CA374111667 | PTCH1 | c.3241T>G (p.Phe1081Val) c.3436T>G (p.Phe1146Val) c.*1747T>G (n.*1747T>G) c.2986T>G (p.Phe996Val) n.770T>G c.3439T>G (p.Phe1147Val) c.3208T>G (n.3208T>G) c.3283T>G (p.Phe1095Val) c.2599T>G (p.Phe867Val) n.3461T>G n.4178T>G | |
9 | g.95453488A>G | CA374111668 | PTCH1 | c.3241T>C (p.Phe1081Leu) c.3436T>C (p.Phe1146Leu) c.*1747T>C (n.*1747T>C) c.2986T>C (p.Phe996Leu) n.770T>C c.3439T>C (p.Phe1147Leu) c.3208T>C (n.3208T>C) c.3283T>C (p.Phe1095Leu) c.2599T>C (p.Phe867Leu) n.3461T>C n.4178T>C | gnomAD v4 |
9 | g.95453488A>T | CA374111669 | PTCH1 | c.3241T>A (p.Phe1081Ile) c.3436T>A (p.Phe1146Ile) c.*1747T>A (n.*1747T>A) c.2986T>A (p.Phe996Ile) n.770T>A c.3439T>A (p.Phe1147Ile) c.3208T>A (n.3208T>A) c.3283T>A (p.Phe1095Ile) c.2599T>A (p.Phe867Ile) n.3461T>A n.4178T>A | |
9 | g.95453489G>A | CA466107542 | PTCH1 | c.3240C>T (p.Asp1080=) c.3435C>T (p.Asp1145=) c.*1746C>T (n.*1746C>T) c.2985C>T (p.Asp995=) n.769C>T c.3438C>T (p.Asp1146=) c.3207C>T (n.3207C>T) c.3282C>T (p.Asp1094=) c.2598C>T (p.Asp866=) n.3460C>T n.4177C>T | ClinVar dbSNP |
9 | g.95453489G>C | CA374111670 | PTCH1 | c.3240C>G (p.Asp1080Glu) c.3435C>G (p.Asp1145Glu) c.*1746C>G (n.*1746C>G) c.2985C>G (p.Asp995Glu) n.769C>G c.3438C>G (p.Asp1146Glu) c.3207C>G (n.3207C>G) c.3282C>G (p.Asp1094Glu) c.2598C>G (p.Asp866Glu) n.3460C>G n.4177C>G | |
9 | g.95453489G= | CA1865583629 | PTCH1 | c.3240C= (p.Asp1080=) c.3435C= (p.Asp1145=) c.*1746C= (n.*1746C=) c.2985C= (p.Asp995=) n.769C= c.3438C= (p.Asp1146=) c.3207C= (n.3207C=) c.3282C= (p.Asp1094=) c.2598C= (p.Asp866=) n.3460C= n.4177C= | |
9 | g.95453489G>T | CA374111671 | PTCH1 | c.3240C>A (p.Asp1080Glu) c.3435C>A (p.Asp1145Glu) c.*1746C>A (n.*1746C>A) c.2985C>A (p.Asp995Glu) n.769C>A c.3438C>A (p.Asp1146Glu) c.3207C>A (n.3207C>A) c.3282C>A (p.Asp1094Glu) c.2598C>A (p.Asp866Glu) n.3460C>A n.4177C>A | |
9 | g.95453490T>A | CA374111674 | PTCH1 | c.3239A>T (p.Asp1080Val) c.3434A>T (p.Asp1145Val) c.*1745A>T (n.*1745A>T) c.2984A>T (p.Asp995Val) n.768A>T c.3437A>T (p.Asp1146Val) c.3206A>T (n.3206A>T) c.3281A>T (p.Asp1094Val) c.2597A>T (p.Asp866Val) n.3459A>T n.4176A>T | dbSNP |
9 | g.95453490T>C | CA374111673 | PTCH1 | c.3239A>G (p.Asp1080Gly) c.3434A>G (p.Asp1145Gly) c.*1745A>G (n.*1745A>G) c.2984A>G (p.Asp995Gly) n.768A>G c.3437A>G (p.Asp1146Gly) c.3206A>G (n.3206A>G) c.3281A>G (p.Asp1094Gly) c.2597A>G (p.Asp866Gly) n.3459A>G n.4176A>G | dbSNP gnomAD v2 |
9 | g.95453490T>G | CA374111672 | PTCH1 | c.3239A>C (p.Asp1080Ala) c.3434A>C (p.Asp1145Ala) c.*1745A>C (n.*1745A>C) c.2984A>C (p.Asp995Ala) n.768A>C c.3437A>C (p.Asp1146Ala) c.3206A>C (n.3206A>C) c.3281A>C (p.Asp1094Ala) c.2597A>C (p.Asp866Ala) n.3459A>C n.4176A>C | |
9 | g.95453490T= | CA1865583634 | PTCH1 | c.3239A= (p.Asp1080=) c.3434A= (p.Asp1145=) c.*1745A= (n.*1745A=) c.2984A= (p.Asp995=) n.768A= c.3437A= (p.Asp1146=) c.3206A= (n.3206A=) c.3281A= (p.Asp1094=) c.2597A= (p.Asp866=) n.3459A= n.4176A= | |
9 | g.95453491C>A | CA374111675 | PTCH1 | c.3238G>T (p.Asp1080Tyr) c.3433G>T (p.Asp1145Tyr) c.*1744G>T (n.*1744G>T) c.2983G>T (p.Asp995Tyr) n.767G>T c.3436G>T (p.Asp1146Tyr) c.3205G>T (n.3205G>T) c.3280G>T (p.Asp1094Tyr) c.2596G>T (p.Asp866Tyr) n.3458G>T n.4175G>T | |
9 | g.95453491C= | CA1865583639 | PTCH1 | c.3238G= (p.Asp1080=) c.3433G= (p.Asp1145=) c.*1744G= (n.*1744G=) c.2983G= (p.Asp995=) n.767G= c.3436G= (p.Asp1146=) c.3205G= (n.3205G=) c.3280G= (p.Asp1094=) c.2596G= (p.Asp866=) n.3458G= n.4175G= | |
9 | g.95453491C>G | CA374111676 | PTCH1 | c.3238G>C (p.Asp1080His) c.3433G>C (p.Asp1145His) c.*1744G>C (n.*1744G>C) c.2983G>C (p.Asp995His) n.767G>C c.3436G>C (p.Asp1146His) c.3205G>C (n.3205G>C) c.3280G>C (p.Asp1094His) c.2596G>C (p.Asp866His) n.3458G>C n.4175G>C | dbSNP |
9 | g.95453491C>T | CA5138155 | PTCH1 | c.3238G>A (p.Asp1080Asn) c.3433G>A (p.Asp1145Asn) c.*1744G>A (n.*1744G>A) c.2983G>A (p.Asp995Asn) n.767G>A c.3436G>A (p.Asp1146Asn) c.3205G>A (n.3205G>A) c.3280G>A (p.Asp1094Asn) c.2596G>A (p.Asp866Asn) n.3458G>A n.4175G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.95453492G>A | CA332532 | PTCH1 | c.3237C>T (p.Phe1079=) c.3432C>T (p.Phe1144=) c.*1743C>T (n.*1743C>T) c.2982C>T (p.Phe994=) n.766C>T c.3435C>T (p.Phe1145=) c.3204C>T (n.3204C>T) c.3279C>T (p.Phe1093=) c.2595C>T (p.Phe865=) n.3457C>T n.4174C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
9 | g.95453492G>C | CA374111677 | PTCH1 | c.3237C>G (p.Phe1079Leu) c.3432C>G (p.Phe1144Leu) c.*1743C>G (n.*1743C>G) c.2982C>G (p.Phe994Leu) n.766C>G c.3435C>G (p.Phe1145Leu) c.3204C>G (n.3204C>G) c.3279C>G (p.Phe1093Leu) c.2595C>G (p.Phe865Leu) n.3457C>G n.4174C>G | |
9 | g.95453492G= | CA1865583652 | PTCH1 | c.3237C= (p.Phe1079=) c.3432C= (p.Phe1144=) c.*1743C= (n.*1743C=) c.2982C= (p.Phe994=) n.766C= c.3435C= (p.Phe1145=) c.3204C= (n.3204C=) c.3279C= (p.Phe1093=) c.2595C= (p.Phe865=) n.3457C= n.4174C= | |
9 | g.95453492G>T | CA374111678 | PTCH1 | c.3237C>A (p.Phe1079Leu) c.3432C>A (p.Phe1144Leu) c.*1743C>A (n.*1743C>A) c.2982C>A (p.Phe994Leu) n.766C>A c.3435C>A (p.Phe1145Leu) c.3204C>A (n.3204C>A) c.3279C>A (p.Phe1093Leu) c.2595C>A (p.Phe865Leu) n.3457C>A n.4174C>A | |
9 | g.95453493A>C | CA374111681 | PTCH1 | c.3236T>G (p.Phe1079Cys) c.3431T>G (p.Phe1144Cys) c.*1742T>G (n.*1742T>G) c.2981T>G (p.Phe994Cys) n.765T>G c.3434T>G (p.Phe1145Cys) c.3203T>G (n.3203T>G) c.3278T>G (p.Phe1093Cys) c.2594T>G (p.Phe865Cys) n.3456T>G n.4173T>G | |
9 | g.95453493A>G | CA374111679 | PTCH1 | c.3236T>C (p.Phe1079Ser) c.3431T>C (p.Phe1144Ser) c.*1742T>C (n.*1742T>C) c.2981T>C (p.Phe994Ser) n.765T>C c.3434T>C (p.Phe1145Ser) c.3203T>C (n.3203T>C) c.3278T>C (p.Phe1093Ser) c.2594T>C (p.Phe865Ser) n.3456T>C n.4173T>C | |
9 | g.95453493A>T | CA374111680 | PTCH1 | c.3236T>A (p.Phe1079Tyr) c.3431T>A (p.Phe1144Tyr) c.*1742T>A (n.*1742T>A) c.2981T>A (p.Phe994Tyr) n.765T>A c.3434T>A (p.Phe1145Tyr) c.3203T>A (n.3203T>A) c.3278T>A (p.Phe1093Tyr) c.2594T>A (p.Phe865Tyr) n.3456T>A n.4173T>A | |
9 | g.95453494A>C | CA374111682 | PTCH1 | c.3235T>G (p.Phe1079Val) c.3430T>G (p.Phe1144Val) c.*1741T>G (n.*1741T>G) c.2980T>G (p.Phe994Val) n.764T>G c.3433T>G (p.Phe1145Val) c.3202T>G (n.3202T>G) c.3277T>G (p.Phe1093Val) c.2593T>G (p.Phe865Val) n.3455T>G n.4172T>G | |
9 | g.95453494A>G | CA374111683 | PTCH1 | c.3235T>C (p.Phe1079Leu) c.3430T>C (p.Phe1144Leu) c.*1741T>C (n.*1741T>C) c.2980T>C (p.Phe994Leu) n.764T>C c.3433T>C (p.Phe1145Leu) c.3202T>C (n.3202T>C) c.3277T>C (p.Phe1093Leu) c.2593T>C (p.Phe865Leu) n.3455T>C n.4172T>C | gnomAD v4 |
9 | g.95453494A>T | CA374111684 | PTCH1 | c.3235T>A (p.Phe1079Ile) c.3430T>A (p.Phe1144Ile) c.*1741T>A (n.*1741T>A) c.2980T>A (p.Phe994Ile) n.764T>A c.3433T>A (p.Phe1145Ile) c.3202T>A (n.3202T>A) c.3277T>A (p.Phe1093Ile) c.2593T>A (p.Phe865Ile) n.3455T>A n.4172T>A | |
9 | g.95453495C>A | CA374111685 | PTCH1 | c.3234G>T (p.Glu1078Asp) c.3429G>T (p.Glu1143Asp) c.*1740G>T (n.*1740G>T) c.2979G>T (p.Glu993Asp) n.763G>T c.3432G>T (p.Glu1144Asp) c.3201G>T (n.3201G>T) c.3276G>T (p.Glu1092Asp) c.2592G>T (p.Glu864Asp) n.3454G>T n.4171G>T | ClinVar gnomAD v4 |
9 | g.95453495C>G | CA374111686 | PTCH1 | c.3234G>C (p.Glu1078Asp) c.3429G>C (p.Glu1143Asp) c.*1740G>C (n.*1740G>C) c.2979G>C (p.Glu993Asp) n.763G>C c.3432G>C (p.Glu1144Asp) c.3201G>C (n.3201G>C) c.3276G>C (p.Glu1092Asp) c.2592G>C (p.Glu864Asp) n.3454G>C n.4171G>C | |
9 | g.95453495C>T | CA466107560 | PTCH1 | c.3234G>A (p.Glu1078=) c.3429G>A (p.Glu1143=) c.*1740G>A (n.*1740G>A) c.2979G>A (p.Glu993=) n.763G>A c.3432G>A (p.Glu1144=) c.3201G>A (n.3201G>A) c.3276G>A (p.Glu1092=) c.2592G>A (p.Glu864=) n.3454G>A n.4171G>A | ClinVar dbSNP gnomAD v4 |
9 | g.95453496T>A | CA374111687 | PTCH1 | c.3233A>T (p.Glu1078Val) c.3428A>T (p.Glu1143Val) c.*1739A>T (n.*1739A>T) c.2978A>T (p.Glu993Val) n.762A>T c.3431A>T (p.Glu1144Val) c.3200A>T (n.3200A>T) c.3275A>T (p.Glu1092Val) c.2591A>T (p.Glu864Val) n.3453A>T n.4170A>T | |
9 | g.95453496T>C | CA374111688 | PTCH1 | c.3233A>G (p.Glu1078Gly) c.3428A>G (p.Glu1143Gly) c.*1739A>G (n.*1739A>G) c.2978A>G (p.Glu993Gly) n.762A>G c.3431A>G (p.Glu1144Gly) c.3200A>G (n.3200A>G) c.3275A>G (p.Glu1092Gly) c.2591A>G (p.Glu864Gly) n.3453A>G n.4170A>G | |
9 | g.95453496T>G | CA374111689 | PTCH1 | c.3233A>C (p.Glu1078Ala) c.3428A>C (p.Glu1143Ala) c.*1739A>C (n.*1739A>C) c.2978A>C (p.Glu993Ala) n.762A>C c.3431A>C (p.Glu1144Ala) c.3200A>C (n.3200A>C) c.3275A>C (p.Glu1092Ala) c.2591A>C (p.Glu864Ala) n.3453A>C n.4170A>C | |
9 | g.95453497C>A | CA374111690 | PTCH1 | c.3232G>T (p.Glu1078Ter) c.3427G>T (p.Glu1143Ter) c.*1738G>T (n.*1738G>T) c.2977G>T (p.Glu993Ter) n.761G>T c.3430G>T (p.Glu1144Ter) c.3199G>T (n.3199G>T) c.3274G>T (p.Glu1092Ter) c.2590G>T (p.Glu864Ter) n.3452G>T n.4169G>T | |
9 | g.95453497C>G | CA374111691 | PTCH1 | c.3232G>C (p.Glu1078Gln) c.3427G>C (p.Glu1143Gln) c.*1738G>C (n.*1738G>C) c.2977G>C (p.Glu993Gln) n.761G>C c.3430G>C (p.Glu1144Gln) c.3199G>C (n.3199G>C) c.3274G>C (p.Glu1092Gln) c.2590G>C (p.Glu864Gln) n.3452G>C n.4169G>C | |
9 | g.95453497C>T | CA374111692 | PTCH1 | c.3232G>A (p.Glu1078Lys) c.3427G>A (p.Glu1143Lys) c.*1738G>A (n.*1738G>A) c.2977G>A (p.Glu993Lys) n.761G>A c.3430G>A (p.Glu1144Lys) c.3199G>A (n.3199G>A) c.3274G>A (p.Glu1092Lys) c.2590G>A (p.Glu864Lys) n.3452G>A n.4169G>A | |
9 | g.95453497_95453499delinsCAG | CA1865583658 | PTCH1 | c.3230_3232delinsCTG (p.Ser1077=) c.3425_3427delinsCTG (p.Ser1142=) c.*1736_*1738delinsCTG (n.*1736_*1738delinsCTG) c.2975_2977delinsCTG (p.Ser992=) n.759_761delinsCTG c.3428_3430delinsCTG (p.Ser1143=) c.3197_3199delinsCTG (n.3197_3199delinsCTG) c.3272_3274delinsCTG (p.Ser1091=) c.2588_2590delinsCTG (p.Ser863=) n.3450_3452delinsCTG n.4167_4169delinsCTG | |
9 | g.95453498A= | CA1865583677 | PTCH1 | c.3231T= (p.Ser1077=) c.3426T= (p.Ser1142=) c.*1737T= (n.*1737T=) c.2976T= (p.Ser992=) n.760T= c.3429T= (p.Ser1143=) c.3198T= (n.3198T=) c.3273T= (p.Ser1091=) c.2589T= (p.Ser863=) n.3451T= n.4168T= | |
9 | g.95453498A>C | CA466107571 | PTCH1 | c.3231T>G (p.Ser1077=) c.3426T>G (p.Ser1142=) c.*1737T>G (n.*1737T>G) c.2976T>G (p.Ser992=) n.760T>G c.3429T>G (p.Ser1143=) c.3198T>G (n.3198T>G) c.3273T>G (p.Ser1091=) c.2589T>G (p.Ser863=) n.3451T>G n.4168T>G | |
9 | g.95453498A>G | CA338239 | PTCH1 | c.3231T>C (p.Ser1077=) c.3426T>C (p.Ser1142=) c.*1737T>C (n.*1737T>C) c.2976T>C (p.Ser992=) n.760T>C c.3429T>C (p.Ser1143=) c.3198T>C (n.3198T>C) c.3273T>C (p.Ser1091=) c.2589T>C (p.Ser863=) n.3451T>C n.4168T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.95453498A>T | CA466107569 | PTCH1 | c.3231T>A (p.Ser1077=) c.3426T>A (p.Ser1142=) c.*1737T>A (n.*1737T>A) c.2976T>A (p.Ser992=) n.760T>A c.3429T>A (p.Ser1143=) c.3198T>A (n.3198T>A) c.3273T>A (p.Ser1091=) c.2589T>A (p.Ser863=) n.3451T>A n.4168T>A | ClinVar dbSNP |
9 | g.95453499_95453500del | CA658657882 | PTCH1 | c.3230_3231del (p.Ser1077Ter) c.3425_3426del (p.Ser1142Ter) c.*1736_*1737del (n.*1736_*1737del) c.2975_2976del (p.Ser992Ter) n.759_760del c.3428_3429del (p.Ser1143Ter) c.3197_3198del (n.3197_3198del) c.3272_3273del (p.Ser1091Ter) c.2588_2589del (p.Ser863Ter) n.3450_3451del n.4167_4168del | ClinVar dbSNP |
9 | g.95453499G>A | CA374111693 | PTCH1 | c.3230C>T (p.Ser1077Phe) c.3425C>T (p.Ser1142Phe) c.*1736C>T (n.*1736C>T) c.2975C>T (p.Ser992Phe) n.759C>T c.3428C>T (p.Ser1143Phe) c.3197C>T (n.3197C>T) c.3272C>T (p.Ser1091Phe) c.2588C>T (p.Ser863Phe) n.3450C>T n.4167C>T | |
9 | g.95453499G>C | CA374111695 | PTCH1 | c.3230C>G (p.Ser1077Cys) c.3425C>G (p.Ser1142Cys) c.*1736C>G (n.*1736C>G) c.2975C>G (p.Ser992Cys) n.759C>G c.3428C>G (p.Ser1143Cys) c.3197C>G (n.3197C>G) c.3272C>G (p.Ser1091Cys) c.2588C>G (p.Ser863Cys) n.3450C>G n.4167C>G | ClinVar |
9 | g.95453499G>T | CA374111694 | PTCH1 | c.3230C>A (p.Ser1077Tyr) c.3425C>A (p.Ser1142Tyr) c.*1736C>A (n.*1736C>A) c.2975C>A (p.Ser992Tyr) n.759C>A c.3428C>A (p.Ser1143Tyr) c.3197C>A (n.3197C>A) c.3272C>A (p.Ser1091Tyr) c.2588C>A (p.Ser863Tyr) n.3450C>A n.4167C>A | |
9 | g.95453500A>C | CA374111696 | PTCH1 | c.3229T>G (p.Ser1077Ala) c.3424T>G (p.Ser1142Ala) c.*1735T>G (n.*1735T>G) c.2974T>G (p.Ser992Ala) n.758T>G c.3427T>G (p.Ser1143Ala) c.3196T>G (n.3196T>G) c.3271T>G (p.Ser1091Ala) c.2587T>G (p.Ser863Ala) n.3449T>G n.4166T>G | |
9 | g.95453500A>G | CA374111698 | PTCH1 | c.3229T>C (p.Ser1077Pro) c.3424T>C (p.Ser1142Pro) c.*1735T>C (n.*1735T>C) c.2974T>C (p.Ser992Pro) n.758T>C c.3427T>C (p.Ser1143Pro) c.3196T>C (n.3196T>C) c.3271T>C (p.Ser1091Pro) c.2587T>C (p.Ser863Pro) n.3449T>C n.4166T>C | |
9 | g.95453500A>T | CA374111697 | PTCH1 | c.3229T>A (p.Ser1077Thr) c.3424T>A (p.Ser1142Thr) c.*1735T>A (n.*1735T>A) c.2974T>A (p.Ser992Thr) n.758T>A c.3427T>A (p.Ser1143Thr) c.3196T>A (n.3196T>A) c.3271T>A (p.Ser1091Thr) c.2587T>A (p.Ser863Thr) n.3449T>A n.4166T>A | |
9 | g.95453501T>A | CA466107582 | PTCH1 | c.3228A>T (p.Gly1076=) c.3423A>T (p.Gly1141=) c.*1734A>T (n.*1734A>T) c.2973A>T (p.Gly991=) n.757A>T c.3426A>T (p.Gly1142=) c.3195A>T (n.3195A>T) c.3270A>T (p.Gly1090=) c.2586A>T (p.Gly862=) n.3448A>T n.4165A>T | ClinVar gnomAD v4 |
9 | g.95453501T>C | CA466107583 | PTCH1 | c.3228A>G (p.Gly1076=) c.3423A>G (p.Gly1141=) c.*1734A>G (n.*1734A>G) c.2973A>G (p.Gly991=) n.757A>G c.3426A>G (p.Gly1142=) c.3195A>G (n.3195A>G) c.3270A>G (p.Gly1090=) c.2586A>G (p.Gly862=) n.3448A>G n.4165A>G | |
9 | g.95453501T>G | CA466107585 | PTCH1 | c.3228A>C (p.Gly1076=) c.3423A>C (p.Gly1141=) c.*1734A>C (n.*1734A>C) c.2973A>C (p.Gly991=) n.757A>C c.3426A>C (p.Gly1142=) c.3195A>C (n.3195A>C) c.3270A>C (p.Gly1090=) c.2586A>C (p.Gly862=) n.3448A>C n.4165A>C | |
9 | g.95453502C>A | CA374111699 | PTCH1 | c.3227G>T (p.Gly1076Val) c.3422G>T (p.Gly1141Val) c.*1733G>T (n.*1733G>T) c.2972G>T (p.Gly991Val) n.756G>T c.3425G>T (p.Gly1142Val) c.3194G>T (n.3194G>T) c.3269G>T (p.Gly1090Val) c.2585G>T (p.Gly862Val) n.3447G>T n.4164G>T | |
9 | g.95453502C>G | CA374111700 | PTCH1 | c.3227G>C (p.Gly1076Ala) c.3422G>C (p.Gly1141Ala) c.*1733G>C (n.*1733G>C) c.2972G>C (p.Gly991Ala) n.756G>C c.3425G>C (p.Gly1142Ala) c.3194G>C (n.3194G>C) c.3269G>C (p.Gly1090Ala) c.2585G>C (p.Gly862Ala) n.3447G>C n.4164G>C | |
9 | g.95453502C>T | CA374111701 | PTCH1 | c.3227G>A (p.Gly1076Glu) c.3422G>A (p.Gly1141Glu) c.*1733G>A (n.*1733G>A) c.2972G>A (p.Gly991Glu) n.756G>A c.3425G>A (p.Gly1142Glu) c.3194G>A (n.3194G>A) c.3269G>A (p.Gly1090Glu) c.2585G>A (p.Gly862Glu) n.3447G>A n.4164G>A | COSMIC COSMIC COSMIC COSMIC |
9 | g.95453502_95453517delinsCCCGCCAGCATCAGCA | CA1865583689 | PTCH1 | c.3212_3227delinsTGCTGATGCTGGCGGG (p.Val1071=) c.3407_3422delinsTGCTGATGCTGGCGGG (p.Val1136=) c.*1718_*1733delinsTGCTGATGCTGGCGGG (n.*1718_*1733delinsTGCTGATGCTGGCGGG) c.2957_2972delinsTGCTGATGCTGGCGGG (p.Val986=) n.741_756delinsTGCTGATGCTGGCGGG c.3410_3425delinsTGCTGATGCTGGCGGG (p.Val1137=) c.3179_3194delinsTGCTGATGCTGGCGGG (n.3179_3194delinsTGCTGATGCTGGCGGG) c.3254_3269delinsTGCTGATGCTGGCGGG (p.Val1085=) c.2570_2585delinsTGCTGATGCTGGCGGG (p.Val857=) n.3432_3447delinsTGCTGATGCTGGCGGG n.4149_4164delinsTGCTGATGCTGGCGGG | |
9 | g.95453503C>A | CA374111702 | PTCH1 | c.3226G>T (p.Gly1076Ter) c.3421G>T (p.Gly1141Ter) c.*1732G>T (n.*1732G>T) c.2971G>T (p.Gly991Ter) n.755G>T c.3424G>T (p.Gly1142Ter) c.3193G>T (n.3193G>T) c.3268G>T (p.Gly1090Ter) c.2584G>T (p.Gly862Ter) n.3446G>T n.4163G>T | |
9 | g.95453503C= | CA1865583696 | PTCH1 | c.3226G= (p.Gly1076=) c.3421G= (p.Gly1141=) c.*1732G= (n.*1732G=) c.2971G= (p.Gly991=) n.755G= c.3424G= (p.Gly1142=) c.3193G= (n.3193G=) c.3268G= (p.Gly1090=) c.2584G= (p.Gly862=) n.3446G= n.4163G= | |
9 | g.95453503C>G | CA374111703 | PTCH1 | c.3226G>C (p.Gly1076Arg) c.3421G>C (p.Gly1141Arg) c.*1732G>C (n.*1732G>C) c.2971G>C (p.Gly991Arg) n.755G>C c.3424G>C (p.Gly1142Arg) c.3193G>C (n.3193G>C) c.3268G>C (p.Gly1090Arg) c.2584G>C (p.Gly862Arg) n.3446G>C n.4163G>C | |
9 | g.95453503C>T | CA374111704 | PTCH1 | c.3226G>A (p.Gly1076Arg) c.3421G>A (p.Gly1141Arg) c.*1732G>A (n.*1732G>A) c.2971G>A (p.Gly991Arg) n.755G>A c.3424G>A (p.Gly1142Arg) c.3193G>A (n.3193G>A) c.3268G>A (p.Gly1090Arg) c.2584G>A (p.Gly862Arg) n.3446G>A n.4163G>A | dbSNP gnomAD v2 COSMIC COSMIC COSMIC COSMIC |
9 | g.95453504_95453518del | CA645369447 | PTCH1 | c.3212_3226del (p.Val1071_Ala1075del) c.3407_3421del (p.Val1136_Ala1140del) c.*1718_*1732del (n.*1718_*1732del) c.2957_2971del (p.Val986_Ala990del) n.741_755del c.3410_3424del (p.Val1137_Ala1141del) c.3179_3193del (n.3179_3193del) c.3254_3268del (p.Val1085_Ala1089del) c.2570_2584del (p.Val857_Ala861del) n.3432_3446del n.4149_4163del | ClinVar dbSNP |
9 | g.95453504C>A | CA466107595 | PTCH1 | c.3225G>T (p.Ala1075=) c.3420G>T (p.Ala1140=) c.*1731G>T (n.*1731G>T) c.2970G>T (p.Ala990=) n.754G>T c.3423G>T (p.Ala1141=) c.3192G>T (n.3192G>T) c.3267G>T (p.Ala1089=) c.2583G>T (p.Ala861=) n.3445G>T n.4162G>T | |
9 | g.95453504C= | CA1865583711 | PTCH1 | c.3225G= (p.Ala1075=) c.3420G= (p.Ala1140=) c.*1731G= (n.*1731G=) c.2970G= (p.Ala990=) n.754G= c.3423G= (p.Ala1141=) c.3192G= (n.3192G=) c.3267G= (p.Ala1089=) c.2583G= (p.Ala861=) n.3445G= n.4162G= | |
9 | g.95453504C>G | CA466107598 | PTCH1 | c.3225G>C (p.Ala1075=) c.3420G>C (p.Ala1140=) c.*1731G>C (n.*1731G>C) c.2970G>C (p.Ala990=) n.754G>C c.3423G>C (p.Ala1141=) c.3192G>C (n.3192G>C) c.3267G>C (p.Ala1089=) c.2583G>C (p.Ala861=) n.3445G>C n.4162G>C | |
9 | g.95453504C>T | CA337965 | PTCH1 | c.3225G>A (p.Ala1075=) c.3420G>A (p.Ala1140=) c.*1731G>A (n.*1731G>A) c.2970G>A (p.Ala990=) n.754G>A c.3423G>A (p.Ala1141=) c.3192G>A (n.3192G>A) c.3267G>A (p.Ala1089=) c.2583G>A (p.Ala861=) n.3445G>A n.4162G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.95453504_95453505insCGCCAGCATCAGCAC | CA918512141 | PTCH1 | c.3225_3226insTGCTGATGCTGGCGG c.3420_3421insTGCTGATGCTGGCGG c.*1731_*1732insTGCTGATGCTGGCGG (n.*1731_*1732insTGCTGATGCTGGCGG) c.2970_2971insTGCTGATGCTGGCGG n.754_755insTGCTGATGCTGGCGG c.3423_3424insTGCTGATGCTGGCGG c.3192_3193insTGCTGATGCTGGCGG (n.3192_3193insTGCTGATGCTGGCGG) c.3267_3268insTGCTGATGCTGGCGG c.2583_2584insTGCTGATGCTGGCGG n.3445_3446insTGCTGATGCTGGCGG n.4162_4163insTGCTGATGCTGGCGG | dbSNP |
9 | g.95453505G>A | CA272946 | PTCH1 | c.3224C>T (p.Ala1075Val) c.3419C>T (p.Ala1140Val) c.*1730C>T (n.*1730C>T) c.2969C>T (p.Ala990Val) n.753C>T c.3422C>T (p.Ala1141Val) c.3191C>T (n.3191C>T) c.3266C>T (p.Ala1089Val) c.2582C>T (p.Ala861Val) n.3444C>T n.4161C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.95453505G>C | CA5138156 | PTCH1 | c.3224C>G (p.Ala1075Gly) c.3419C>G (p.Ala1140Gly) c.*1730C>G (n.*1730C>G) c.2969C>G (p.Ala990Gly) n.753C>G c.3422C>G (p.Ala1141Gly) c.3191C>G (n.3191C>G) c.3266C>G (p.Ala1089Gly) c.2582C>G (p.Ala861Gly) n.3444C>G n.4161C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.95453505G= | CA1865583724 | PTCH1 | c.3224C= (p.Ala1075=) c.3419C= (p.Ala1140=) c.*1730C= (n.*1730C=) c.2969C= (p.Ala990=) n.753C= c.3422C= (p.Ala1141=) c.3191C= (n.3191C=) c.3266C= (p.Ala1089=) c.2582C= (p.Ala861=) n.3444C= n.4161C= | |
9 | g.95453505G>T | CA374111705 | PTCH1 | c.3224C>A (p.Ala1075Glu) c.3419C>A (p.Ala1140Glu) c.*1730C>A (n.*1730C>A) c.2969C>A (p.Ala990Glu) n.753C>A c.3422C>A (p.Ala1141Glu) c.3191C>A (n.3191C>A) c.3266C>A (p.Ala1089Glu) c.2582C>A (p.Ala861Glu) n.3444C>A n.4161C>A | |
9 | g.95453506C>A | CA374111708 | PTCH1 | c.3223G>T (p.Ala1075Ser) c.3418G>T (p.Ala1140Ser) c.*1729G>T (n.*1729G>T) c.2968G>T (p.Ala990Ser) n.752G>T c.3421G>T (p.Ala1141Ser) c.3190G>T (n.3190G>T) c.3265G>T (p.Ala1089Ser) c.2581G>T (p.Ala861Ser) n.3443G>T n.4160G>T | |
9 | g.95453506C>G | CA374111707 | PTCH1 | c.3223G>C (p.Ala1075Pro) c.3418G>C (p.Ala1140Pro) c.*1729G>C (n.*1729G>C) c.2968G>C (p.Ala990Pro) n.752G>C c.3421G>C (p.Ala1141Pro) c.3190G>C (n.3190G>C) c.3265G>C (p.Ala1089Pro) c.2581G>C (p.Ala861Pro) n.3443G>C n.4160G>C | |
9 | g.95453506C>T | CA374111706 | PTCH1 | c.3223G>A (p.Ala1075Thr) c.3418G>A (p.Ala1140Thr) c.*1729G>A (n.*1729G>A) c.2968G>A (p.Ala990Thr) n.752G>A c.3421G>A (p.Ala1141Thr) c.3190G>A (n.3190G>A) c.3265G>A (p.Ala1089Thr) c.2581G>A (p.Ala861Thr) n.3443G>A n.4160G>A | |
9 | g.95453507del | CA2573144874 | PTCH1 | c.3223del (p.Ala1075ArgfsTer?) c.3418del (p.Ala1140ArgfsTer?) c.*1729del (n.*1729del) c.2968del (p.Ala990ArgfsTer?) n.752del c.3421del (p.Ala1141ArgfsTer?) c.3190del (n.3190del) c.3265del (p.Ala1089ArgfsTer?) c.2581del (p.Ala861ArgfsTer?) n.3443del n.4160del | ClinVar dbSNP |
9 | g.95453507C>A | CA466107608 | PTCH1 | c.3222G>T (p.Leu1074=) c.3417G>T (p.Leu1139=) c.*1728G>T (n.*1728G>T) c.2967G>T (p.Leu989=) n.751G>T c.3420G>T (p.Leu1140=) c.3189G>T (n.3189G>T) c.3264G>T (p.Leu1088=) c.2580G>T (p.Leu860=) n.3442G>T n.4159G>T | dbSNP gnomAD v4 |
9 | g.95453507C= | CA1865583733 | PTCH1 | c.3222G= (p.Leu1074=) c.3417G= (p.Leu1139=) c.*1728G= (n.*1728G=) c.2967G= (p.Leu989=) n.751G= c.3420G= (p.Leu1140=) c.3189G= (n.3189G=) c.3264G= (p.Leu1088=) c.2580G= (p.Leu860=) n.3442G= n.4159G= | |
9 | g.95453507C>G | CA5138157 | PTCH1 | c.3222G>C (p.Leu1074=) c.3417G>C (p.Leu1139=) c.*1728G>C (n.*1728G>C) c.2967G>C (p.Leu989=) n.751G>C c.3420G>C (p.Leu1140=) c.3189G>C (n.3189G>C) c.3264G>C (p.Leu1088=) c.2580G>C (p.Leu860=) n.3442G>C n.4159G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.95453507C>T | CA466107611 | PTCH1 | c.3222G>A (p.Leu1074=) c.3417G>A (p.Leu1139=) c.*1728G>A (n.*1728G>A) c.2967G>A (p.Leu989=) n.751G>A c.3420G>A (p.Leu1140=) c.3189G>A (n.3189G>A) c.3264G>A (p.Leu1088=) c.2580G>A (p.Leu860=) n.3442G>A n.4159G>A | ClinVar dbSNP |
9 | g.95453508A>C | CA374111709 | PTCH1 | c.3221T>G (p.Leu1074Arg) c.3416T>G (p.Leu1139Arg) c.*1727T>G (n.*1727T>G) c.2966T>G (p.Leu989Arg) n.750T>G c.3419T>G (p.Leu1140Arg) c.3188T>G (n.3188T>G) c.3263T>G (p.Leu1088Arg) c.2579T>G (p.Leu860Arg) n.3441T>G n.4158T>G | |
9 | g.95453508A>G | CA374111710 | PTCH1 | c.3221T>C (p.Leu1074Pro) c.3416T>C (p.Leu1139Pro) c.*1727T>C (n.*1727T>C) c.2966T>C (p.Leu989Pro) n.750T>C c.3419T>C (p.Leu1140Pro) c.3188T>C (n.3188T>C) c.3263T>C (p.Leu1088Pro) c.2579T>C (p.Leu860Pro) n.3441T>C n.4158T>C | |
9 | g.95453508A>T | CA374111711 | PTCH1 | c.3221T>A (p.Leu1074Gln) c.3416T>A (p.Leu1139Gln) c.*1727T>A (n.*1727T>A) c.2966T>A (p.Leu989Gln) n.750T>A c.3419T>A (p.Leu1140Gln) c.3188T>A (n.3188T>A) c.3263T>A (p.Leu1088Gln) c.2579T>A (p.Leu860Gln) n.3441T>A n.4158T>A | |
9 | g.95453508_95453509del | CA2579388958 | PTCH1 | c.3220_3221del (p.Leu1074GlyfsTer4) c.3415_3416del (p.Leu1139GlyfsTer4) c.*1726_*1727del (n.*1726_*1727del) c.2965_2966del (p.Leu989GlyfsTer4) n.749_750del c.3418_3419del (p.Leu1140GlyfsTer4) c.3187_3188del (n.3187_3188del) c.3262_3263del (p.Leu1088GlyfsTer4) c.2578_2579del (p.Leu860GlyfsTer4) n.3440_3441del n.4157_4158del | |
9 | g.95453509G>A | CA466107620 | PTCH1 | c.3220C>T (p.Leu1074=) c.3415C>T (p.Leu1139=) c.*1726C>T (n.*1726C>T) c.2965C>T (p.Leu989=) n.749C>T c.3418C>T (p.Leu1140=) c.3187C>T (n.3187C>T) c.3262C>T (p.Leu1088=) c.2578C>T (p.Leu860=) n.3440C>T n.4157C>T | dbSNP |
9 | g.95453509G>C | CA374111712 | PTCH1 | c.3220C>G (p.Leu1074Val) c.3415C>G (p.Leu1139Val) c.*1726C>G (n.*1726C>G) c.2965C>G (p.Leu989Val) n.749C>G c.3418C>G (p.Leu1140Val) c.3187C>G (n.3187C>G) c.3262C>G (p.Leu1088Val) c.2578C>G (p.Leu860Val) n.3440C>G n.4157C>G | ClinVar |
9 | g.95453509G>T | CA374111713 | PTCH1 | c.3220C>A (p.Leu1074Met) c.3415C>A (p.Leu1139Met) c.*1726C>A (n.*1726C>A) c.2965C>A (p.Leu989Met) n.749C>A c.3418C>A (p.Leu1140Met) c.3187C>A (n.3187C>A) c.3262C>A (p.Leu1088Met) c.2578C>A (p.Leu860Met) n.3440C>A n.4157C>A | |
9 | g.95453510C>A | CA374111714 | PTCH1 | c.3219G>T (p.Met1073Ile) c.3414G>T (p.Met1138Ile) c.*1725G>T (n.*1725G>T) c.2964G>T (p.Met988Ile) n.748G>T c.3417G>T (p.Met1139Ile) c.3186G>T (n.3186G>T) c.3261G>T (p.Met1087Ile) c.2577G>T (p.Met859Ile) n.3439G>T n.4156G>T | |
9 | g.95453510C>G | CA374111715 | PTCH1 | c.3219G>C (p.Met1073Ile) c.3414G>C (p.Met1138Ile) c.*1725G>C (n.*1725G>C) c.2964G>C (p.Met988Ile) n.748G>C c.3417G>C (p.Met1139Ile) c.3186G>C (n.3186G>C) c.3261G>C (p.Met1087Ile) c.2577G>C (p.Met859Ile) n.3439G>C n.4156G>C | |
9 | g.95453510C>T | CA374111716 | PTCH1 | c.3219G>A (p.Met1073Ile) c.3414G>A (p.Met1138Ile) c.*1725G>A (n.*1725G>A) c.2964G>A (p.Met988Ile) n.748G>A c.3417G>A (p.Met1139Ile) c.3186G>A (n.3186G>A) c.3261G>A (p.Met1087Ile) c.2577G>A (p.Met859Ile) n.3439G>A n.4156G>A | COSMIC |
9 | g.95453510dup | CA2695210755 | PTCH1 | c.3219dup (p.Leu1074AlafsTer5) c.3414dup (p.Leu1139AlafsTer5) c.*1725dup (n.*1725dup) c.2964dup (p.Leu989AlafsTer5) n.748dup c.3417dup (p.Leu1140AlafsTer5) c.3186dup (n.3186dup) c.3261dup (p.Leu1088AlafsTer5) c.2577dup (p.Leu860AlafsTer5) n.3439dup n.4156dup | |
9 | g.95453511A>C | CA374111717 | PTCH1 | c.3218T>G (p.Met1073Arg) c.3413T>G (p.Met1138Arg) c.*1724T>G (n.*1724T>G) c.2963T>G (p.Met988Arg) n.747T>G c.3416T>G (p.Met1139Arg) c.3185T>G (n.3185T>G) c.3260T>G (p.Met1087Arg) c.2576T>G (p.Met859Arg) n.3438T>G n.4155T>G | |
9 | g.95453511A>G | CA374111718 | PTCH1 | c.3218T>C (p.Met1073Thr) c.3413T>C (p.Met1138Thr) c.*1724T>C (n.*1724T>C) c.2963T>C (p.Met988Thr) n.747T>C c.3416T>C (p.Met1139Thr) c.3185T>C (n.3185T>C) c.3260T>C (p.Met1087Thr) c.2576T>C (p.Met859Thr) n.3438T>C n.4155T>C | |
9 | g.95453511A>T | CA374111719 | PTCH1 | c.3218T>A (p.Met1073Lys) c.3413T>A (p.Met1138Lys) c.*1724T>A (n.*1724T>A) c.2963T>A (p.Met988Lys) n.747T>A c.3416T>A (p.Met1139Lys) c.3185T>A (n.3185T>A) c.3260T>A (p.Met1087Lys) c.2576T>A (p.Met859Lys) n.3438T>A n.4155T>A | |
9 | g.95453512T>A | CA374111721 | PTCH1 | c.3217A>T (p.Met1073Leu) c.3412A>T (p.Met1138Leu) c.*1723A>T (n.*1723A>T) c.2962A>T (p.Met988Leu) n.746A>T c.3415A>T (p.Met1139Leu) c.3184A>T (n.3184A>T) c.3259A>T (p.Met1087Leu) c.2575A>T (p.Met859Leu) n.3437A>T n.4154A>T | gnomAD v4 |
9 | g.95453512T>C | CA374111722 | PTCH1 | c.3217A>G (p.Met1073Val) c.3412A>G (p.Met1138Val) c.*1723A>G (n.*1723A>G) c.2962A>G (p.Met988Val) n.746A>G c.3415A>G (p.Met1139Val) c.3184A>G (n.3184A>G) c.3259A>G (p.Met1087Val) c.2575A>G (p.Met859Val) n.3437A>G n.4154A>G | |
9 | g.95453512T>G | CA374111720 | PTCH1 | c.3217A>C (p.Met1073Leu) c.3412A>C (p.Met1138Leu) c.*1723A>C (n.*1723A>C) c.2962A>C (p.Met988Leu) n.746A>C c.3415A>C (p.Met1139Leu) c.3184A>C (n.3184A>C) c.3259A>C (p.Met1087Leu) c.2575A>C (p.Met859Leu) n.3437A>C n.4154A>C | ClinVar |
9 | g.95453513C>A | CA466107639 | PTCH1 | c.3216G>T (p.Leu1072=) c.3411G>T (p.Leu1137=) c.*1722G>T (n.*1722G>T) c.2961G>T (p.Leu987=) n.745G>T c.3414G>T (p.Leu1138=) c.3183G>T (n.3183G>T) c.3258G>T (p.Leu1086=) c.2574G>T (p.Leu858=) n.3436G>T n.4153G>T | |
9 | g.95453513C= | CA1865583736 | PTCH1 | c.3216G= (p.Leu1072=) c.3411G= (p.Leu1137=) c.*1722G= (n.*1722G=) c.2961G= (p.Leu987=) n.745G= c.3414G= (p.Leu1138=) c.3183G= (n.3183G=) c.3258G= (p.Leu1086=) c.2574G= (p.Leu858=) n.3436G= n.4153G= | |
9 | g.95453513C>G | CA466107642 | PTCH1 | c.3216G>C (p.Leu1072=) c.3411G>C (p.Leu1137=) c.*1722G>C (n.*1722G>C) c.2961G>C (p.Leu987=) n.745G>C c.3414G>C (p.Leu1138=) c.3183G>C (n.3183G>C) c.3258G>C (p.Leu1086=) c.2574G>C (p.Leu858=) n.3436G>C n.4153G>C | dbSNP gnomAD v2 |
9 | g.95453513C>T | CA466107644 | PTCH1 | c.3216G>A (p.Leu1072=) c.3411G>A (p.Leu1137=) c.*1722G>A (n.*1722G>A) c.2961G>A (p.Leu987=) n.745G>A c.3414G>A (p.Leu1138=) c.3183G>A (n.3183G>A) c.3258G>A (p.Leu1086=) c.2574G>A (p.Leu858=) n.3436G>A n.4153G>A | |
9 | g.95453514A>C | CA374111723 | PTCH1 | c.3215T>G (p.Leu1072Arg) c.3410T>G (p.Leu1137Arg) c.*1721T>G (n.*1721T>G) c.2960T>G (p.Leu987Arg) n.744T>G c.3413T>G (p.Leu1138Arg) c.3182T>G (n.3182T>G) c.3257T>G (p.Leu1086Arg) c.2573T>G (p.Leu858Arg) n.3435T>G n.4152T>G | |
9 | g.95453514A>G | CA374111724 | PTCH1 | c.3215T>C (p.Leu1072Pro) c.3410T>C (p.Leu1137Pro) c.*1721T>C (n.*1721T>C) c.2960T>C (p.Leu987Pro) n.744T>C c.3413T>C (p.Leu1138Pro) c.3182T>C (n.3182T>C) c.3257T>C (p.Leu1086Pro) c.2573T>C (p.Leu858Pro) n.3435T>C n.4152T>C | ClinVar |
9 | g.95453514A>T | CA374111725 | PTCH1 | c.3215T>A (p.Leu1072Gln) c.3410T>A (p.Leu1137Gln) c.*1721T>A (n.*1721T>A) c.2960T>A (p.Leu987Gln) n.744T>A c.3413T>A (p.Leu1138Gln) c.3182T>A (n.3182T>A) c.3257T>A (p.Leu1086Gln) c.2573T>A (p.Leu858Gln) n.3435T>A n.4152T>A | |
9 | g.95453515G>A | CA466107649 | PTCH1 | c.3214C>T (p.Leu1072=) c.3409C>T (p.Leu1137=) c.*1720C>T (n.*1720C>T) c.2959C>T (p.Leu987=) n.743C>T c.3412C>T (p.Leu1138=) c.3181C>T (n.3181C>T) c.3256C>T (p.Leu1086=) c.2572C>T (p.Leu858=) n.3434C>T n.4151C>T | ClinVar dbSNP |
9 | g.95453515G>C | CA374111726 | PTCH1 | c.3214C>G (p.Leu1072Val) c.3409C>G (p.Leu1137Val) c.*1720C>G (n.*1720C>G) c.2959C>G (p.Leu987Val) n.743C>G c.3412C>G (p.Leu1138Val) c.3181C>G (n.3181C>G) c.3256C>G (p.Leu1086Val) c.2572C>G (p.Leu858Val) n.3434C>G n.4151C>G | ClinVar dbSNP |
9 | g.95453515G= | CA1865583740 | PTCH1 | c.3214C= (p.Leu1072=) c.3409C= (p.Leu1137=) c.*1720C= (n.*1720C=) c.2959C= (p.Leu987=) n.743C= c.3412C= (p.Leu1138=) c.3181C= (n.3181C=) c.3256C= (p.Leu1086=) c.2572C= (p.Leu858=) n.3434C= n.4151C= | |
9 | g.95453515G>T | CA374111727 | PTCH1 | c.3214C>A (p.Leu1072Met) c.3409C>A (p.Leu1137Met) c.*1720C>A (n.*1720C>A) c.2959C>A (p.Leu987Met) n.743C>A c.3412C>A (p.Leu1138Met) c.3181C>A (n.3181C>A) c.3256C>A (p.Leu1086Met) c.2572C>A (p.Leu858Met) n.3434C>A n.4151C>A | |
9 | g.95453516C>A | CA466107655 | PTCH1 | c.3213G>T (p.Val1071=) c.3408G>T (p.Val1136=) c.*1719G>T (n.*1719G>T) c.2958G>T (p.Val986=) n.742G>T c.3411G>T (p.Val1137=) c.3180G>T (n.3180G>T) c.3255G>T (p.Val1085=) c.2571G>T (p.Val857=) n.3433G>T n.4150G>T | |
9 | g.95453516C>G | CA466107656 | PTCH1 | c.3213G>C (p.Val1071=) c.3408G>C (p.Val1136=) c.*1719G>C (n.*1719G>C) c.2958G>C (p.Val986=) n.742G>C c.3411G>C (p.Val1137=) c.3180G>C (n.3180G>C) c.3255G>C (p.Val1085=) c.2571G>C (p.Val857=) n.3433G>C n.4150G>C | |
9 | g.95453516C>T | CA466107657 | PTCH1 | c.3213G>A (p.Val1071=) c.3408G>A (p.Val1136=) c.*1719G>A (n.*1719G>A) c.2958G>A (p.Val986=) n.742G>A c.3411G>A (p.Val1137=) c.3180G>A (n.3180G>A) c.3255G>A (p.Val1085=) c.2571G>A (p.Val857=) n.3433G>A n.4150G>A | dbSNP |
9 | g.95453517A>C | CA374111728 | PTCH1 | c.3212T>G (p.Val1071Gly) c.3407T>G (p.Val1136Gly) c.*1718T>G (n.*1718T>G) c.2957T>G (p.Val986Gly) n.741T>G c.3410T>G (p.Val1137Gly) c.3179T>G (n.3179T>G) c.3254T>G (p.Val1085Gly) c.2570T>G (p.Val857Gly) n.3432T>G n.4149T>G | |
9 | g.95453517A>G | CA374111729 | PTCH1 | c.3212T>C (p.Val1071Ala) c.3407T>C (p.Val1136Ala) c.*1718T>C (n.*1718T>C) c.2957T>C (p.Val986Ala) n.741T>C c.3410T>C (p.Val1137Ala) c.3179T>C (n.3179T>C) c.3254T>C (p.Val1085Ala) c.2570T>C (p.Val857Ala) n.3432T>C n.4149T>C | |
9 | g.95453517A>T | CA374111730 | PTCH1 | c.3212T>A (p.Val1071Glu) c.3407T>A (p.Val1136Glu) c.*1718T>A (n.*1718T>A) c.2957T>A (p.Val986Glu) n.741T>A c.3410T>A (p.Val1137Glu) c.3179T>A (n.3179T>A) c.3254T>A (p.Val1085Glu) c.2570T>A (p.Val857Glu) n.3432T>A n.4149T>A | |
9 | g.95453518C>A | CA374111731 | PTCH1 | c.3211G>T (p.Val1071Leu) c.3406G>T (p.Val1136Leu) c.*1717G>T (n.*1717G>T) c.2956G>T (p.Val986Leu) n.740G>T c.3409G>T (p.Val1137Leu) c.3178G>T (n.3178G>T) c.3253G>T (p.Val1085Leu) c.2569G>T (p.Val857Leu) n.3431G>T n.4148G>T | |
9 | g.95453518C>G | CA374111732 | PTCH1 | c.3211G>C (p.Val1071Leu) c.3406G>C (p.Val1136Leu) c.*1717G>C (n.*1717G>C) c.2956G>C (p.Val986Leu) n.740G>C c.3409G>C (p.Val1137Leu) c.3178G>C (n.3178G>C) c.3253G>C (p.Val1085Leu) c.2569G>C (p.Val857Leu) n.3431G>C n.4148G>C | |
9 | g.95453518C>T | CA374111733 | PTCH1 | c.3211G>A (p.Val1071Met) c.3406G>A (p.Val1136Met) c.*1717G>A (n.*1717G>A) c.2956G>A (p.Val986Met) n.740G>A c.3409G>A (p.Val1137Met) c.3178G>A (n.3178G>A) c.3253G>A (p.Val1085Met) c.2569G>A (p.Val857Met) n.3431G>A n.4148G>A | dbSNP gnomAD v4 |
9 | g.95453519T>A | CA466107671 | PTCH1 | c.3210A>T (p.Gly1070=) c.3405A>T (p.Gly1135=) c.*1716A>T (n.*1716A>T) c.2955A>T (p.Gly985=) n.739A>T c.3408A>T (p.Gly1136=) c.3177A>T (n.3177A>T) c.3252A>T (p.Gly1084=) c.2568A>T (p.Gly856=) n.3430A>T n.4147A>T | |
9 | g.95453519T>C | CA5138158 | PTCH1 | c.3210A>G (p.Gly1070=) c.3405A>G (p.Gly1135=) c.*1716A>G (n.*1716A>G) c.2955A>G (p.Gly985=) n.739A>G c.3408A>G (p.Gly1136=) c.3177A>G (n.3177A>G) c.3252A>G (p.Gly1084=) c.2568A>G (p.Gly856=) n.3430A>G n.4147A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.95453519T>G | CA466107667 | PTCH1 | c.3210A>C (p.Gly1070=) c.3405A>C (p.Gly1135=) c.*1716A>C (n.*1716A>C) c.2955A>C (p.Gly985=) n.739A>C c.3408A>C (p.Gly1136=) c.3177A>C (n.3177A>C) c.3252A>C (p.Gly1084=) c.2568A>C (p.Gly856=) n.3430A>C n.4147A>C | ClinVar |
9 | g.95453519T= | CA1865583743 | PTCH1 | c.3210A= (p.Gly1070=) c.3405A= (p.Gly1135=) c.*1716A= (n.*1716A=) c.2955A= (p.Gly985=) n.739A= c.3408A= (p.Gly1136=) c.3177A= (n.3177A=) c.3252A= (p.Gly1084=) c.2568A= (p.Gly856=) n.3430A= n.4147A= | |
9 | g.95453520C>A | CA374111735 | PTCH1 | c.3209G>T (p.Gly1070Val) c.3404G>T (p.Gly1135Val) c.*1715G>T (n.*1715G>T) c.2954G>T (p.Gly985Val) n.738G>T c.3407G>T (p.Gly1136Val) c.3176G>T (n.3176G>T) c.3251G>T (p.Gly1084Val) c.2567G>T (p.Gly856Val) n.3429G>T n.4146G>T | dbSNP |
9 | g.95453520C>G | CA374111736 | PTCH1 | c.3209G>C (p.Gly1070Ala) c.3404G>C (p.Gly1135Ala) c.*1715G>C (n.*1715G>C) c.2954G>C (p.Gly985Ala) n.738G>C c.3407G>C (p.Gly1136Ala) c.3176G>C (n.3176G>C) c.3251G>C (p.Gly1084Ala) c.2567G>C (p.Gly856Ala) n.3429G>C n.4146G>C | |
9 | g.95453520C>T | CA374111734 | PTCH1 | c.3209G>A (p.Gly1070Glu) c.3404G>A (p.Gly1135Glu) c.*1715G>A (n.*1715G>A) c.2954G>A (p.Gly985Glu) n.738G>A c.3407G>A (p.Gly1136Glu) c.3176G>A (n.3176G>A) c.3251G>A (p.Gly1084Glu) c.2567G>A (p.Gly856Glu) n.3429G>A n.4146G>A | dbSNP |
9 | g.95453521C>A | CA374111737 | PTCH1 | c.3208G>T (p.Gly1070Ter) c.3403G>T (p.Gly1135Ter) c.*1714G>T (n.*1714G>T) c.2953G>T (p.Gly985Ter) n.737G>T c.3406G>T (p.Gly1136Ter) c.3175G>T (n.3175G>T) c.3250G>T (p.Gly1084Ter) c.2566G>T (p.Gly856Ter) n.3428G>T n.4145G>T | |
9 | g.95453521C= | CA1865583751 | PTCH1 | c.3208G= (p.Gly1070=) c.3403G= (p.Gly1135=) c.*1714G= (n.*1714G=) c.2953G= (p.Gly985=) n.737G= c.3406G= (p.Gly1136=) c.3175G= (n.3175G=) c.3250G= (p.Gly1084=) c.2566G= (p.Gly856=) n.3428G= n.4145G= | |
9 | g.95453521C>G | CA374111738 | PTCH1 | c.3208G>C (p.Gly1070Arg) c.3403G>C (p.Gly1135Arg) c.*1714G>C (n.*1714G>C) c.2953G>C (p.Gly985Arg) n.737G>C c.3406G>C (p.Gly1136Arg) c.3175G>C (n.3175G>C) c.3250G>C (p.Gly1084Arg) c.2566G>C (p.Gly856Arg) n.3428G>C n.4145G>C | ClinVar dbSNP |
9 | g.95453521C>T | CA374111739 | PTCH1 | c.3208G>A (p.Gly1070Arg) c.3403G>A (p.Gly1135Arg) c.*1714G>A (n.*1714G>A) c.2953G>A (p.Gly985Arg) n.737G>A c.3406G>A (p.Gly1136Arg) c.3175G>A (n.3175G>A) c.3250G>A (p.Gly1084Arg) c.2566G>A (p.Gly856Arg) n.3428G>A n.4145G>A | ClinVar dbSNP |
9 | g.95453522C>A | CA466107681 | PTCH1 | c.3207G>T (p.Leu1069=) c.3402G>T (p.Leu1134=) c.*1713G>T (n.*1713G>T) c.2952G>T (p.Leu984=) n.736G>T c.3405G>T (p.Leu1135=) c.3174G>T (n.3174G>T) c.3249G>T (p.Leu1083=) c.2565G>T (p.Leu855=) n.3427G>T n.4144G>T | dbSNP |
9 | g.95453522C>G | CA466107683 | PTCH1 | c.3207G>C (p.Leu1069=) c.3402G>C (p.Leu1134=) c.*1713G>C (n.*1713G>C) c.2952G>C (p.Leu984=) n.736G>C c.3405G>C (p.Leu1135=) c.3174G>C (n.3174G>C) c.3249G>C (p.Leu1083=) c.2565G>C (p.Leu855=) n.3427G>C n.4144G>C | |
9 | g.95453522C>T | CA466107686 | PTCH1 | c.3207G>A (p.Leu1069=) c.3402G>A (p.Leu1134=) c.*1713G>A (n.*1713G>A) c.2952G>A (p.Leu984=) n.736G>A c.3405G>A (p.Leu1135=) c.3174G>A (n.3174G>A) c.3249G>A (p.Leu1083=) c.2565G>A (p.Leu855=) n.3427G>A n.4144G>A | ClinVar dbSNP |
9 | g.95453525_95453527del | CA2695210756 | PTCH1 | c.3205_3207del (p.Leu1069del) c.3400_3402del (p.Leu1134del) c.*1711_*1713del (n.*1711_*1713del) c.2950_2952del (p.Leu984del) n.734_736del c.3403_3405del (p.Leu1135del) c.3172_3174del (n.3172_3174del) c.3247_3249del (p.Leu1083del) c.2563_2565del (p.Leu855del) n.3425_3427del n.4142_4144del | |
9 | g.95453523A= | CA1865583759 | PTCH1 | c.3206T= (p.Leu1069=) c.3401T= (p.Leu1134=) c.*1712T= (n.*1712T=) c.2951T= (p.Leu984=) n.735T= c.3404T= (p.Leu1135=) c.3173T= (n.3173T=) c.3248T= (p.Leu1083=) c.2564T= (p.Leu855=) n.3426T= n.4143T= | |
9 | g.95453523A>C | CA374111740 | PTCH1 | c.3206T>G (p.Leu1069Arg) c.3401T>G (p.Leu1134Arg) c.*1712T>G (n.*1712T>G) c.2951T>G (p.Leu984Arg) n.735T>G c.3404T>G (p.Leu1135Arg) c.3173T>G (n.3173T>G) c.3248T>G (p.Leu1083Arg) c.2564T>G (p.Leu855Arg) n.3426T>G n.4143T>G | |
9 | g.95453523A>G | CA374111741 | PTCH1 | c.3206T>C (p.Leu1069Pro) c.3401T>C (p.Leu1134Pro) c.*1712T>C (n.*1712T>C) c.2951T>C (p.Leu984Pro) n.735T>C c.3404T>C (p.Leu1135Pro) c.3173T>C (n.3173T>C) c.3248T>C (p.Leu1083Pro) c.2564T>C (p.Leu855Pro) n.3426T>C n.4143T>C | ClinVar dbSNP |
9 | g.95453523A>T | CA374111742 | PTCH1 | c.3206T>A (p.Leu1069Gln) c.3401T>A (p.Leu1134Gln) c.*1712T>A (n.*1712T>A) c.2951T>A (p.Leu984Gln) n.735T>A c.3404T>A (p.Leu1135Gln) c.3173T>A (n.3173T>A) c.3248T>A (p.Leu1083Gln) c.2564T>A (p.Leu855Gln) n.3426T>A n.4143T>A | |
9 | g.95453524G>A | CA466107695 | PTCH1 | c.3205C>T (p.Leu1069=) c.3400C>T (p.Leu1134=) c.*1711C>T (n.*1711C>T) c.2950C>T (p.Leu984=) n.734C>T c.3403C>T (p.Leu1135=) c.3172C>T (n.3172C>T) c.3247C>T (p.Leu1083=) c.2563C>T (p.Leu855=) n.3425C>T n.4142C>T | dbSNP gnomAD v4 |
9 | g.95453524G>C | CA374111743 | PTCH1 | c.3205C>G (p.Leu1069Val) c.3400C>G (p.Leu1134Val) c.*1711C>G (n.*1711C>G) c.2950C>G (p.Leu984Val) n.734C>G c.3403C>G (p.Leu1135Val) c.3172C>G (n.3172C>G) c.3247C>G (p.Leu1083Val) c.2563C>G (p.Leu855Val) n.3425C>G n.4142C>G | dbSNP |
9 | g.95453524G>T | CA374111744 | PTCH1 | c.3205C>A (p.Leu1069Met) c.3400C>A (p.Leu1134Met) c.*1711C>A (n.*1711C>A) c.2950C>A (p.Leu984Met) n.734C>A c.3403C>A (p.Leu1135Met) c.3172C>A (n.3172C>A) c.3247C>A (p.Leu1083Met) c.2563C>A (p.Leu855Met) n.3425C>A n.4142C>A | |
9 | g.95453525C>A | CA466107696 | PTCH1 | c.3204G>T (p.Leu1068=) c.3399G>T (p.Leu1133=) c.*1710G>T (n.*1710G>T) c.2949G>T (p.Leu983=) n.733G>T c.3402G>T (p.Leu1134=) c.3171G>T (n.3171G>T) c.3246G>T (p.Leu1082=) c.2562G>T (p.Leu854=) n.3424G>T n.4141G>T | ClinVar gnomAD v4 |
9 | g.95453525C>G | CA466107698 | PTCH1 | c.3204G>C (p.Leu1068=) c.3399G>C (p.Leu1133=) c.*1710G>C (n.*1710G>C) c.2949G>C (p.Leu983=) n.733G>C c.3402G>C (p.Leu1134=) c.3171G>C (n.3171G>C) c.3246G>C (p.Leu1082=) c.2562G>C (p.Leu854=) n.3424G>C n.4141G>C | |
9 | g.95453525C>T | CA466107700 | PTCH1 | c.3204G>A (p.Leu1068=) c.3399G>A (p.Leu1133=) c.*1710G>A (n.*1710G>A) c.2949G>A (p.Leu983=) n.733G>A c.3402G>A (p.Leu1134=) c.3171G>A (n.3171G>A) c.3246G>A (p.Leu1082=) c.2562G>A (p.Leu854=) n.3424G>A n.4141G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
9 | g.95453526A>C | CA374111745 | PTCH1 | c.3203T>G (p.Leu1068Arg) c.3398T>G (p.Leu1133Arg) c.*1709T>G (n.*1709T>G) c.2948T>G (p.Leu983Arg) n.732T>G c.3401T>G (p.Leu1134Arg) c.3170T>G (n.3170T>G) c.3245T>G (p.Leu1082Arg) c.2561T>G (p.Leu854Arg) n.3423T>G n.4140T>G | |
9 | g.95453526A>G | CA374111746 | PTCH1 | c.3203T>C (p.Leu1068Pro) c.3398T>C (p.Leu1133Pro) c.*1709T>C (n.*1709T>C) c.2948T>C (p.Leu983Pro) n.732T>C c.3401T>C (p.Leu1134Pro) c.3170T>C (n.3170T>C) c.3245T>C (p.Leu1082Pro) c.2561T>C (p.Leu854Pro) n.3423T>C n.4140T>C | |
9 | g.95453526A>T | CA374111747 | PTCH1 | c.3203T>A (p.Leu1068Gln) c.3398T>A (p.Leu1133Gln) c.*1709T>A (n.*1709T>A) c.2948T>A (p.Leu983Gln) n.732T>A c.3401T>A (p.Leu1134Gln) c.3170T>A (n.3170T>A) c.3245T>A (p.Leu1082Gln) c.2561T>A (p.Leu854Gln) n.3423T>A n.4140T>A | COSMIC COSMIC COSMIC COSMIC |
9 | g.95453527G>A | CA466107721 | PTCH1 | c.3202C>T (p.Leu1068=) c.3397C>T (p.Leu1133=) c.*1708C>T (n.*1708C>T) c.2947C>T (p.Leu983=) n.731C>T c.3400C>T (p.Leu1134=) c.3169C>T (n.3169C>T) c.3244C>T (p.Leu1082=) c.2560C>T (p.Leu854=) n.3422C>T n.4139C>T | |
9 | g.95453527G>C | CA374111748 | PTCH1 | c.3202C>G (p.Leu1068Val) c.3397C>G (p.Leu1133Val) c.*1708C>G (n.*1708C>G) c.2947C>G (p.Leu983Val) n.731C>G c.3400C>G (p.Leu1134Val) c.3169C>G (n.3169C>G) c.3244C>G (p.Leu1082Val) c.2560C>G (p.Leu854Val) n.3422C>G n.4139C>G | ClinVar dbSNP gnomAD v4 |
9 | g.95453527G= | CA1865583772 | PTCH1 | c.3202C= (p.Leu1068=) c.3397C= (p.Leu1133=) c.*1708C= (n.*1708C=) c.2947C= (p.Leu983=) n.731C= c.3400C= (p.Leu1134=) c.3169C= (n.3169C=) c.3244C= (p.Leu1082=) c.2560C= (p.Leu854=) n.3422C= n.4139C= | |
9 | g.95453527G>T | CA374111749 | PTCH1 | c.3202C>A (p.Leu1068Met) c.3397C>A (p.Leu1133Met) c.*1708C>A (n.*1708C>A) c.2947C>A (p.Leu983Met) n.731C>A c.3400C>A (p.Leu1134Met) c.3169C>A (n.3169C>A) c.3244C>A (p.Leu1082Met) c.2560C>A (p.Leu854Met) n.3422C>A n.4139C>A | |
9 | g.95453527_95453529del | CA2580081157 | PTCH1 | c.3200_3202del (p.Thr1067_Leu1068delinsMet) c.3395_3397del (p.Thr1132_Leu1133delinsMet) c.*1706_*1708del (n.*1706_*1708del) c.2945_2947del (p.Thr982_Leu983delinsMet) n.729_731del c.3398_3400del (p.Thr1133_Leu1134delinsMet) c.3167_3169del (n.3167_3169del) c.3242_3244del (p.Thr1081_Leu1082delinsMet) c.2558_2560del (p.Thr853_Leu854delinsMet) n.3420_3422del n.4137_4139del | ClinVar |
9 | g.95453528A>C | CA466107722 | PTCH1 | c.3201T>G (p.Thr1067=) c.3396T>G (p.Thr1132=) c.*1707T>G (n.*1707T>G) c.2946T>G (p.Thr982=) n.730T>G c.3399T>G (p.Thr1133=) c.3168T>G (n.3168T>G) c.3243T>G (p.Thr1081=) c.2559T>G (p.Thr853=) n.3421T>G n.4138T>G | |
9 | g.95453528A>G | CA466107724 | PTCH1 | c.3201T>C (p.Thr1067=) c.3396T>C (p.Thr1132=) c.*1707T>C (n.*1707T>C) c.2946T>C (p.Thr982=) n.730T>C c.3399T>C (p.Thr1133=) c.3168T>C (n.3168T>C) c.3243T>C (p.Thr1081=) c.2559T>C (p.Thr853=) n.3421T>C n.4138T>C | |
9 | g.95453528A>T | CA466107726 | PTCH1 | c.3201T>A (p.Thr1067=) c.3396T>A (p.Thr1132=) c.*1707T>A (n.*1707T>A) c.2946T>A (p.Thr982=) n.730T>A c.3399T>A (p.Thr1133=) c.3168T>A (n.3168T>A) c.3243T>A (p.Thr1081=) c.2559T>A (p.Thr853=) n.3421T>A n.4138T>A | |
9 | g.95453529G>A | CA374111750 | PTCH1 | c.3200C>T (p.Thr1067Ile) c.3395C>T (p.Thr1132Ile) c.*1706C>T (n.*1706C>T) c.2945C>T (p.Thr982Ile) n.729C>T c.3398C>T (p.Thr1133Ile) c.3167C>T (n.3167C>T) c.3242C>T (p.Thr1081Ile) c.2558C>T (p.Thr853Ile) n.3420C>T n.4137C>T | |
9 | g.95453529G>C | CA374111752 | PTCH1 | c.3200C>G (p.Thr1067Ser) c.3395C>G (p.Thr1132Ser) c.*1706C>G (n.*1706C>G) c.2945C>G (p.Thr982Ser) n.729C>G c.3398C>G (p.Thr1133Ser) c.3167C>G (n.3167C>G) c.3242C>G (p.Thr1081Ser) c.2558C>G (p.Thr853Ser) n.3420C>G n.4137C>G | |
9 | g.95453529G>T | CA374111751 | PTCH1 | c.3200C>A (p.Thr1067Asn) c.3395C>A (p.Thr1132Asn) c.*1706C>A (n.*1706C>A) c.2945C>A (p.Thr982Asn) n.729C>A c.3398C>A (p.Thr1133Asn) c.3167C>A (n.3167C>A) c.3242C>A (p.Thr1081Asn) c.2558C>A (p.Thr853Asn) n.3420C>A n.4137C>A | |
9 | g.95453530T>A | CA374111753 | PTCH1 | c.3199A>T (p.Thr1067Ser) c.3394A>T (p.Thr1132Ser) c.*1705A>T (n.*1705A>T) c.2944A>T (p.Thr982Ser) n.728A>T c.3397A>T (p.Thr1133Ser) c.3166A>T (n.3166A>T) c.3241A>T (p.Thr1081Ser) c.2557A>T (p.Thr853Ser) n.3419A>T n.4136A>T | |
9 | g.95453530T>C | CA374111755 | PTCH1 | c.3199A>G (p.Thr1067Ala) c.3394A>G (p.Thr1132Ala) c.*1705A>G (n.*1705A>G) c.2944A>G (p.Thr982Ala) n.728A>G c.3397A>G (p.Thr1133Ala) c.3166A>G (n.3166A>G) c.3241A>G (p.Thr1081Ala) c.2557A>G (p.Thr853Ala) n.3419A>G n.4136A>G | ClinVar dbSNP |
9 | g.95453530T>G | CA374111754 | PTCH1 | c.3199A>C (p.Thr1067Pro) c.3394A>C (p.Thr1132Pro) c.*1705A>C (n.*1705A>C) c.2944A>C (p.Thr982Pro) n.728A>C c.3397A>C (p.Thr1133Pro) c.3166A>C (n.3166A>C) c.3241A>C (p.Thr1081Pro) c.2557A>C (p.Thr853Pro) n.3419A>C n.4136A>C | ClinVar |
9 | g.95453530T= | CA1865583773 | PTCH1 | c.3199A= (p.Thr1067=) c.3394A= (p.Thr1132=) c.*1705A= (n.*1705A=) c.2944A= (p.Thr982=) n.728A= c.3397A= (p.Thr1133=) c.3166A= (n.3166A=) c.3241A= (p.Thr1081=) c.2557A= (p.Thr853=) n.3419A= n.4136A= | |
9 | g.95453531G>A | CA466107736 | PTCH1 | c.3198C>T (p.Ser1066=) c.3393C>T (p.Ser1131=) c.*1704C>T (n.*1704C>T) c.2943C>T (p.Ser981=) n.727C>T c.3396C>T (p.Ser1132=) c.3165C>T (n.3165C>T) c.3240C>T (p.Ser1080=) c.2556C>T (p.Ser852=) n.3418C>T n.4135C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.95453531G>C | CA466107738 | PTCH1 | c.3198C>G (p.Ser1066=) c.3393C>G (p.Ser1131=) c.*1704C>G (n.*1704C>G) c.2943C>G (p.Ser981=) n.727C>G c.3396C>G (p.Ser1132=) c.3165C>G (n.3165C>G) c.3240C>G (p.Ser1080=) c.2556C>G (p.Ser852=) n.3418C>G n.4135C>G | |
9 | g.95453531G= | CA1865583778 | PTCH1 | c.3198C= (p.Ser1066=) c.3393C= (p.Ser1131=) c.*1704C= (n.*1704C=) c.2943C= (p.Ser981=) n.727C= c.3396C= (p.Ser1132=) c.3165C= (n.3165C=) c.3240C= (p.Ser1080=) c.2556C= (p.Ser852=) n.3418C= n.4135C= | |
9 | g.95453531G>T | CA466107740 | PTCH1 | c.3198C>A (p.Ser1066=) c.3393C>A (p.Ser1131=) c.*1704C>A (n.*1704C>A) c.2943C>A (p.Ser981=) n.727C>A c.3396C>A (p.Ser1132=) c.3165C>A (n.3165C>A) c.3240C>A (p.Ser1080=) c.2556C>A (p.Ser852=) n.3418C>A n.4135C>A | |
9 | g.95453532G>A | CA374111756 | PTCH1 | c.3197C>T (p.Ser1066Phe) c.3392C>T (p.Ser1131Phe) c.*1703C>T (n.*1703C>T) c.2942C>T (p.Ser981Phe) n.726C>T c.3395C>T (p.Ser1132Phe) c.3164C>T (n.3164C>T) c.3239C>T (p.Ser1080Phe) c.2555C>T (p.Ser852Phe) n.3417C>T n.4134C>T | ClinVar dbSNP gnomAD v4 |
9 | g.95453532G>C | CA374111758 | PTCH1 | c.3197C>G (p.Ser1066Cys) c.3392C>G (p.Ser1131Cys) c.*1703C>G (n.*1703C>G) c.2942C>G (p.Ser981Cys) n.726C>G c.3395C>G (p.Ser1132Cys) c.3164C>G (n.3164C>G) c.3239C>G (p.Ser1080Cys) c.2555C>G (p.Ser852Cys) n.3417C>G n.4134C>G | gnomAD v4 |
9 | g.95453532G= | CA1865583786 | PTCH1 | c.3197C= (p.Ser1066=) c.3392C= (p.Ser1131=) c.*1703C= (n.*1703C=) c.2942C= (p.Ser981=) n.726C= c.3395C= (p.Ser1132=) c.3164C= (n.3164C=) c.3239C= (p.Ser1080=) c.2555C= (p.Ser852=) n.3417C= n.4134C= | |
9 | g.95453532G>T | CA374111757 | PTCH1 | c.3197C>A (p.Ser1066Tyr) c.3392C>A (p.Ser1131Tyr) c.*1703C>A (n.*1703C>A) c.2942C>A (p.Ser981Tyr) n.726C>A c.3395C>A (p.Ser1132Tyr) c.3164C>A (n.3164C>A) c.3239C>A (p.Ser1080Tyr) c.2555C>A (p.Ser852Tyr) n.3417C>A n.4134C>A | |
9 | g.95453533A= | CA1865583792 | PTCH1 | c.3196T= (p.Ser1066=) c.3391T= (p.Ser1131=) c.*1702T= (n.*1702T=) c.2941T= (p.Ser981=) n.725T= c.3394T= (p.Ser1132=) c.3163T= (n.3163T=) c.3238T= (p.Ser1080=) c.2554T= (p.Ser852=) n.3416T= n.4133T= | |
9 | g.95453533A>C | CA374111759 | PTCH1 | c.3196T>G (p.Ser1066Ala) c.3391T>G (p.Ser1131Ala) c.*1702T>G (n.*1702T>G) c.2941T>G (p.Ser981Ala) n.725T>G c.3394T>G (p.Ser1132Ala) c.3163T>G (n.3163T>G) c.3238T>G (p.Ser1080Ala) c.2554T>G (p.Ser852Ala) n.3416T>G n.4133T>G | |
9 | g.95453533A>G | CA10582674 | PTCH1 | c.3196T>C (p.Ser1066Pro) c.3391T>C (p.Ser1131Pro) c.*1702T>C (n.*1702T>C) c.2941T>C (p.Ser981Pro) n.725T>C c.3394T>C (p.Ser1132Pro) c.3163T>C (n.3163T>C) c.3238T>C (p.Ser1080Pro) c.2554T>C (p.Ser852Pro) n.3416T>C n.4133T>C | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
9 | g.95453533A>T | CA374111760 | PTCH1 | c.3196T>A (p.Ser1066Thr) c.3391T>A (p.Ser1131Thr) c.*1702T>A (n.*1702T>A) c.2941T>A (p.Ser981Thr) n.725T>A c.3394T>A (p.Ser1132Thr) c.3163T>A (n.3163T>A) c.3238T>A (p.Ser1080Thr) c.2554T>A (p.Ser852Thr) n.3416T>A n.4133T>A | ClinVar dbSNP |
9 | g.95453534C>A | CA466107754 | PTCH1 | c.3195G>T (p.Val1065=) c.3390G>T (p.Val1130=) c.*1701G>T (n.*1701G>T) c.2940G>T (p.Val980=) n.724G>T c.3393G>T (p.Val1131=) c.3162G>T (n.3162G>T) c.3237G>T (p.Val1079=) c.2553G>T (p.Val851=) n.3415G>T n.4132G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.95453534C= | CA1865583809 | PTCH1 | c.3195G= (p.Val1065=) c.3390G= (p.Val1130=) c.*1701G= (n.*1701G=) c.2940G= (p.Val980=) n.724G= c.3393G= (p.Val1131=) c.3162G= (n.3162G=) c.3237G= (p.Val1079=) c.2553G= (p.Val851=) n.3415G= n.4132G= | |
9 | g.95453534C>G | CA466107758 | PTCH1 | c.3195G>C (p.Val1065=) c.3390G>C (p.Val1130=) c.*1701G>C (n.*1701G>C) c.2940G>C (p.Val980=) n.724G>C c.3393G>C (p.Val1131=) c.3162G>C (n.3162G>C) c.3237G>C (p.Val1079=) c.2553G>C (p.Val851=) n.3415G>C n.4132G>C | |
9 | g.95453534C>T | CA466107759 | PTCH1 | c.3195G>A (p.Val1065=) c.3390G>A (p.Val1130=) c.*1701G>A (n.*1701G>A) c.2940G>A (p.Val980=) n.724G>A c.3393G>A (p.Val1131=) c.3162G>A (n.3162G>A) c.3237G>A (p.Val1079=) c.2553G>A (p.Val851=) n.3415G>A n.4132G>A | ClinVar dbSNP gnomAD v4 |
9 | g.95453535A= | CA1865583812 | PTCH1 | c.3194T= (p.Val1065=) c.3389T= (p.Val1130=) c.*1700T= (n.*1700T=) c.2939T= (p.Val980=) n.723T= c.3392T= (p.Val1131=) c.3161T= (n.3161T=) c.3236T= (p.Val1079=) c.2552T= (p.Val851=) n.3414T= n.4131T= | |
9 | g.95453535A>C | CA374111761 | PTCH1 | c.3194T>G (p.Val1065Gly) c.3389T>G (p.Val1130Gly) c.*1700T>G (n.*1700T>G) c.2939T>G (p.Val980Gly) n.723T>G c.3392T>G (p.Val1131Gly) c.3161T>G (n.3161T>G) c.3236T>G (p.Val1079Gly) c.2552T>G (p.Val851Gly) n.3414T>G n.4131T>G | |
9 | g.95453535A>G | CA374111763 | PTCH1 | c.3194T>C (p.Val1065Ala) c.3389T>C (p.Val1130Ala) c.*1700T>C (n.*1700T>C) c.2939T>C (p.Val980Ala) n.723T>C c.3392T>C (p.Val1131Ala) c.3161T>C (n.3161T>C) c.3236T>C (p.Val1079Ala) c.2552T>C (p.Val851Ala) n.3414T>C n.4131T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.95453535A>T | CA374111762 | PTCH1 | c.3194T>A (p.Val1065Glu) c.3389T>A (p.Val1130Glu) c.*1700T>A (n.*1700T>A) c.2939T>A (p.Val980Glu) n.723T>A c.3392T>A (p.Val1131Glu) c.3161T>A (n.3161T>A) c.3236T>A (p.Val1079Glu) c.2552T>A (p.Val851Glu) n.3414T>A n.4131T>A | |
9 | g.95453536C>A | CA374111764 | PTCH1 | c.3193G>T (p.Val1065Leu) c.3388G>T (p.Val1130Leu) c.*1699G>T (n.*1699G>T) c.2938G>T (p.Val980Leu) n.722G>T c.3391G>T (p.Val1131Leu) c.3160G>T (n.3160G>T) c.3235G>T (p.Val1079Leu) c.2551G>T (p.Val851Leu) n.3413G>T n.4130G>T | ClinVar |
9 | g.95453536C= | CA1865583822 | PTCH1 | c.3193G= (p.Val1065=) c.3388G= (p.Val1130=) c.*1699G= (n.*1699G=) c.2938G= (p.Val980=) n.722G= c.3391G= (p.Val1131=) c.3160G= (n.3160G=) c.3235G= (p.Val1079=) c.2551G= (p.Val851=) n.3413G= n.4130G= | |
9 | g.95453536C>G | CA374111765 | PTCH1 | c.3193G>C (p.Val1065Leu) c.3388G>C (p.Val1130Leu) c.*1699G>C (n.*1699G>C) c.2938G>C (p.Val980Leu) n.722G>C c.3391G>C (p.Val1131Leu) c.3160G>C (n.3160G>C) c.3235G>C (p.Val1079Leu) c.2551G>C (p.Val851Leu) n.3413G>C n.4130G>C | dbSNP |
9 | g.95453536C>T | CA5138159 | PTCH1 | c.3193G>A (p.Val1065Met) c.3388G>A (p.Val1130Met) c.*1699G>A (n.*1699G>A) c.2938G>A (p.Val980Met) n.722G>A c.3391G>A (p.Val1131Met) c.3160G>A (n.3160G>A) c.3235G>A (p.Val1079Met) c.2551G>A (p.Val851Met) n.3413G>A n.4130G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
9 | g.95453537G>A | CA5138160 | PTCH1 | c.3192C>T (p.Ala1064=) c.3387C>T (p.Ala1129=) c.*1698C>T (n.*1698C>T) c.2937C>T (p.Ala979=) n.721C>T c.3390C>T (p.Ala1130=) c.3159C>T (n.3159C>T) c.3234C>T (p.Ala1078=) c.2550C>T (p.Ala850=) n.3412C>T n.4129C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.95453537G>C | CA466107775 | PTCH1 | c.3192C>G (p.Ala1064=) c.3387C>G (p.Ala1129=) c.*1698C>G (n.*1698C>G) c.2937C>G (p.Ala979=) n.721C>G c.3390C>G (p.Ala1130=) c.3159C>G (n.3159C>G) c.3234C>G (p.Ala1078=) c.2550C>G (p.Ala850=) n.3412C>G n.4129C>G | |
9 | g.95453537G= | CA1865583832 | PTCH1 | c.3192C= (p.Ala1064=) c.3387C= (p.Ala1129=) c.*1698C= (n.*1698C=) c.2937C= (p.Ala979=) n.721C= c.3390C= (p.Ala1130=) c.3159C= (n.3159C=) c.3234C= (p.Ala1078=) c.2550C= (p.Ala850=) n.3412C= n.4129C= | |
9 | g.95453537G>T | CA466107777 | PTCH1 | c.3192C>A (p.Ala1064=) c.3387C>A (p.Ala1129=) c.*1698C>A (n.*1698C>A) c.2937C>A (p.Ala979=) n.721C>A c.3390C>A (p.Ala1130=) c.3159C>A (n.3159C>A) c.3234C>A (p.Ala1078=) c.2550C>A (p.Ala850=) n.3412C>A n.4129C>A | |
9 | g.95453538G>A | CA374111768 | PTCH1 | c.3191C>T (p.Ala1064Val) c.3386C>T (p.Ala1129Val) c.*1697C>T (n.*1697C>T) c.2936C>T (p.Ala979Val) n.720C>T c.3389C>T (p.Ala1130Val) c.3158C>T (n.3158C>T) c.3233C>T (p.Ala1078Val) c.2549C>T (p.Ala850Val) n.3411C>T n.4128C>T | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
9 | g.95453538G>C | CA374111766 | PTCH1 | c.3191C>G (p.Ala1064Gly) c.3386C>G (p.Ala1129Gly) c.*1697C>G (n.*1697C>G) c.2936C>G (p.Ala979Gly) n.720C>G c.3389C>G (p.Ala1130Gly) c.3158C>G (n.3158C>G) c.3233C>G (p.Ala1078Gly) c.2549C>G (p.Ala850Gly) n.3411C>G n.4128C>G | |
9 | g.95453538G= | CA1865583849 | PTCH1 | c.3191C= (p.Ala1064=) c.3386C= (p.Ala1129=) c.*1697C= (n.*1697C=) c.2936C= (p.Ala979=) n.720C= c.3389C= (p.Ala1130=) c.3158C= (n.3158C=) c.3233C= (p.Ala1078=) c.2549C= (p.Ala850=) n.3411C= n.4128C= | |
9 | g.95453538G>T | CA374111767 | PTCH1 | c.3191C>A (p.Ala1064Asp) c.3386C>A (p.Ala1129Asp) c.*1697C>A (n.*1697C>A) c.2936C>A (p.Ala979Asp) n.720C>A c.3389C>A (p.Ala1130Asp) c.3158C>A (n.3158C>A) c.3233C>A (p.Ala1078Asp) c.2549C>A (p.Ala850Asp) n.3411C>A n.4128C>A | |
9 | g.95453539C>A | CA374111769 | PTCH1 | c.3190G>T (p.Ala1064Ser) c.3385G>T (p.Ala1129Ser) c.*1696G>T (n.*1696G>T) c.2935G>T (p.Ala979Ser) n.719G>T c.3388G>T (p.Ala1130Ser) c.3157G>T (n.3157G>T) c.3232G>T (p.Ala1078Ser) c.2548G>T (p.Ala850Ser) n.3410G>T n.4127G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.95453539C= | CA1865583867 | PTCH1 | c.3190G= (p.Ala1064=) c.3385G= (p.Ala1129=) c.*1696G= (n.*1696G=) c.2935G= (p.Ala979=) n.719G= c.3388G= (p.Ala1130=) c.3157G= (n.3157G=) c.3232G= (p.Ala1078=) c.2548G= (p.Ala850=) n.3410G= n.4127G= | |
9 | g.95453539C>G | CA374111770 | PTCH1 | c.3190G>C (p.Ala1064Pro) c.3385G>C (p.Ala1129Pro) c.*1696G>C (n.*1696G>C) c.2935G>C (p.Ala979Pro) n.719G>C c.3388G>C (p.Ala1130Pro) c.3157G>C (n.3157G>C) c.3232G>C (p.Ala1078Pro) c.2548G>C (p.Ala850Pro) n.3410G>C n.4127G>C | |
9 | g.95453539C>T | CA336551 | PTCH1 | c.3190G>A (p.Ala1064Thr) c.3385G>A (p.Ala1129Thr) c.*1696G>A (n.*1696G>A) c.2935G>A (p.Ala979Thr) n.719G>A c.3388G>A (p.Ala1130Thr) c.3157G>A (n.3157G>A) c.3232G>A (p.Ala1078Thr) c.2548G>A (p.Ala850Thr) n.3410G>A n.4127G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.95453540G>A | CA205390 | PTCH1 | c.3189C>T (p.Gly1063=) c.3384C>T (p.Gly1128=) c.*1695C>T (n.*1695C>T) c.2934C>T (p.Gly978=) n.718C>T c.3387C>T (p.Gly1129=) c.3156C>T (n.3156C>T) c.3231C>T (p.Gly1077=) c.2547C>T (p.Gly849=) n.3409C>T n.4126C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.95453540G>C | CA466107790 | PTCH1 | c.3189C>G (p.Gly1063=) c.3384C>G (p.Gly1128=) c.*1695C>G (n.*1695C>G) c.2934C>G (p.Gly978=) n.718C>G c.3387C>G (p.Gly1129=) c.3156C>G (n.3156C>G) c.3231C>G (p.Gly1077=) c.2547C>G (p.Gly849=) n.3409C>G n.4126C>G | |
9 | g.95453540G= | CA1865583875 | PTCH1 | c.3189C= (p.Gly1063=) c.3384C= (p.Gly1128=) c.*1695C= (n.*1695C=) c.2934C= (p.Gly978=) n.718C= c.3387C= (p.Gly1129=) c.3156C= (n.3156C=) c.3231C= (p.Gly1077=) c.2547C= (p.Gly849=) n.3409C= n.4126C= | |
9 | g.95453540G>T | CA466107788 | PTCH1 | c.3189C>A (p.Gly1063=) c.3384C>A (p.Gly1128=) c.*1695C>A (n.*1695C>A) c.2934C>A (p.Gly978=) n.718C>A c.3387C>A (p.Gly1129=) c.3156C>A (n.3156C>A) c.3231C>A (p.Gly1077=) c.2547C>A (p.Gly849=) n.3409C>A n.4126C>A | |
9 | g.95453541C>A | CA374111773 | PTCH1 | c.3188G>T (p.Gly1063Val) c.3383G>T (p.Gly1128Val) c.*1694G>T (n.*1694G>T) c.2933G>T (p.Gly978Val) n.717G>T c.3386G>T (p.Gly1129Val) c.3155G>T (n.3155G>T) c.3230G>T (p.Gly1077Val) c.2546G>T (p.Gly849Val) n.3408G>T n.4125G>T | |
9 | g.95453541C>G | CA374111772 | PTCH1 | c.3188G>C (p.Gly1063Ala) c.3383G>C (p.Gly1128Ala) c.*1694G>C (n.*1694G>C) c.2933G>C (p.Gly978Ala) n.717G>C c.3386G>C (p.Gly1129Ala) c.3155G>C (n.3155G>C) c.3230G>C (p.Gly1077Ala) c.2546G>C (p.Gly849Ala) n.3408G>C n.4125G>C | |
9 | g.95453541C>T | CA374111771 | PTCH1 | c.3188G>A (p.Gly1063Asp) c.3383G>A (p.Gly1128Asp) c.*1694G>A (n.*1694G>A) c.2933G>A (p.Gly978Asp) n.717G>A c.3386G>A (p.Gly1129Asp) c.3155G>A (n.3155G>A) c.3230G>A (p.Gly1077Asp) c.2546G>A (p.Gly849Asp) n.3408G>A n.4125G>A | dbSNP COSMIC |
9 | g.95453542C>A | CA374111774 | PTCH1 | c.3187G>T (p.Gly1063Cys) c.3382G>T (p.Gly1128Cys) c.*1693G>T (n.*1693G>T) c.2932G>T (p.Gly978Cys) n.716G>T c.3385G>T (p.Gly1129Cys) c.3154G>T (n.3154G>T) c.3229G>T (p.Gly1077Cys) c.2545G>T (p.Gly849Cys) n.3407G>T n.4124G>T | |
9 | g.95453542C= | CA1865583894 | PTCH1 | c.3187G= (p.Gly1063=) c.3382G= (p.Gly1128=) c.*1693G= (n.*1693G=) c.2932G= (p.Gly978=) n.716G= c.3385G= (p.Gly1129=) c.3154G= (n.3154G=) c.3229G= (p.Gly1077=) c.2545G= (p.Gly849=) n.3407G= n.4124G= | |
9 | g.95453542C>G | CA374111775 | PTCH1 | c.3187G>C (p.Gly1063Arg) c.3382G>C (p.Gly1128Arg) c.*1693G>C (n.*1693G>C) c.2932G>C (p.Gly978Arg) n.716G>C c.3385G>C (p.Gly1129Arg) c.3154G>C (n.3154G>C) c.3229G>C (p.Gly1077Arg) c.2545G>C (p.Gly849Arg) n.3407G>C n.4124G>C | ClinVar dbSNP |
9 | g.95453542C>T | CA374111776 | PTCH1 | c.3187G>A (p.Gly1063Ser) c.3382G>A (p.Gly1128Ser) c.*1693G>A (n.*1693G>A) c.2932G>A (p.Gly978Ser) n.716G>A c.3385G>A (p.Gly1129Ser) c.3154G>A (n.3154G>A) c.3229G>A (p.Gly1077Ser) c.2545G>A (p.Gly849Ser) n.3407G>A n.4124G>A | |
9 | g.95453542_95453543delinsCA | CA1865583896 | PTCH1 | c.3186_3187delinsTG (p.Asp1062=) c.3381_3382delinsTG (p.Asp1127=) c.*1692_*1693delinsTG (n.*1692_*1693delinsTG) c.2931_2932delinsTG (p.Asp977=) n.715_716delinsTG c.3384_3385delinsTG (p.Asp1128=) c.3153_3154delinsTG (n.3153_3154delinsTG) c.3228_3229delinsTG (p.Asp1076=) c.2544_2545delinsTG (p.Asp848=) n.3406_3407delinsTG n.4123_4124delinsTG | |
9 | g.95453543del | CA1139661040 | PTCH1 | c.3186del (p.Asp1062GlufsTer11) c.3381del (p.Asp1127GlufsTer11) c.*1692del (n.*1692del) c.2931del (p.Asp977GlufsTer11) n.715del c.3384del (p.Asp1128GlufsTer11) c.3153del (n.3153del) c.3228del (p.Asp1076GlufsTer11) c.2544del (p.Asp848GlufsTer11) n.3406del n.4123del | ClinVar dbSNP |
9 | g.95453543A= | CA1865583919 | PTCH1 | c.3186T= (p.Asp1062=) c.3381T= (p.Asp1127=) c.*1692T= (n.*1692T=) c.2931T= (p.Asp977=) n.715T= c.3384T= (p.Asp1128=) c.3153T= (n.3153T=) c.3228T= (p.Asp1076=) c.2544T= (p.Asp848=) n.3406T= n.4123T= | |
9 | g.95453543A>C | CA374111777 | PTCH1 | c.3186T>G (p.Asp1062Glu) c.3381T>G (p.Asp1127Glu) c.*1692T>G (n.*1692T>G) c.2931T>G (p.Asp977Glu) n.715T>G c.3384T>G (p.Asp1128Glu) c.3153T>G (n.3153T>G) c.3228T>G (p.Asp1076Glu) c.2544T>G (p.Asp848Glu) n.3406T>G n.4123T>G | |
9 | g.95453543A>G | CA5138161 | PTCH1 | c.3186T>C (p.Asp1062=) c.3381T>C (p.Asp1127=) c.*1692T>C (n.*1692T>C) c.2931T>C (p.Asp977=) n.715T>C c.3384T>C (p.Asp1128=) c.3153T>C (n.3153T>C) c.3228T>C (p.Asp1076=) c.2544T>C (p.Asp848=) n.3406T>C n.4123T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.95453543A>T | CA374111778 | PTCH1 | c.3186T>A (p.Asp1062Glu) c.3381T>A (p.Asp1127Glu) c.*1692T>A (n.*1692T>A) c.2931T>A (p.Asp977Glu) n.715T>A c.3384T>A (p.Asp1128Glu) c.3153T>A (n.3153T>A) c.3228T>A (p.Asp1076Glu) c.2544T>A (p.Asp848Glu) n.3406T>A n.4123T>A | |
9 | g.95453544T>A | CA374111779 | PTCH1 | c.3185A>T (p.Asp1062Val) c.3380A>T (p.Asp1127Val) c.*1691A>T (n.*1691A>T) c.2930A>T (p.Asp977Val) n.714A>T c.3383A>T (p.Asp1128Val) c.3152A>T (n.3152A>T) c.3227A>T (p.Asp1076Val) c.2543A>T (p.Asp848Val) n.3405A>T n.4122A>T | |
9 | g.95453544T>C | CA374111781 | PTCH1 | c.3185A>G (p.Asp1062Gly) c.3380A>G (p.Asp1127Gly) c.*1691A>G (n.*1691A>G) c.2930A>G (p.Asp977Gly) n.714A>G c.3383A>G (p.Asp1128Gly) c.3152A>G (n.3152A>G) c.3227A>G (p.Asp1076Gly) c.2543A>G (p.Asp848Gly) n.3405A>G n.4122A>G | |
9 | g.95453544T>G | CA374111780 | PTCH1 | c.3185A>C (p.Asp1062Ala) c.3380A>C (p.Asp1127Ala) c.*1691A>C (n.*1691A>C) c.2930A>C (p.Asp977Ala) n.714A>C c.3383A>C (p.Asp1128Ala) c.3152A>C (n.3152A>C) c.3227A>C (p.Asp1076Ala) c.2543A>C (p.Asp848Ala) n.3405A>C n.4122A>C | |
9 | g.95453545C>A | CA374111782 | PTCH1 | c.3184G>T (p.Asp1062Tyr) c.3379G>T (p.Asp1127Tyr) c.*1690G>T (n.*1690G>T) c.2929G>T (p.Asp977Tyr) n.713G>T c.3382G>T (p.Asp1128Tyr) c.3151G>T (n.3151G>T) c.3226G>T (p.Asp1076Tyr) c.2542G>T (p.Asp848Tyr) n.3404G>T n.4121G>T | |
9 | g.95453545C>G | CA374111783 | PTCH1 | c.3184G>C (p.Asp1062His) c.3379G>C (p.Asp1127His) c.*1690G>C (n.*1690G>C) c.2929G>C (p.Asp977His) n.713G>C c.3382G>C (p.Asp1128His) c.3151G>C (n.3151G>C) c.3226G>C (p.Asp1076His) c.2542G>C (p.Asp848His) n.3404G>C n.4121G>C | |
9 | g.95453545C>T | CA374111784 | PTCH1 | c.3184G>A (p.Asp1062Asn) c.3379G>A (p.Asp1127Asn) c.*1690G>A (n.*1690G>A) c.2929G>A (p.Asp977Asn) n.713G>A c.3382G>A (p.Asp1128Asn) c.3151G>A (n.3151G>A) c.3226G>A (p.Asp1076Asn) c.2542G>A (p.Asp848Asn) n.3404G>A n.4121G>A | |
9 | g.95453546C>A | CA466107826 | PTCH1 | c.3183G>T (p.Leu1061=) c.3378G>T (p.Leu1126=) c.*1689G>T (n.*1689G>T) c.2928G>T (p.Leu976=) n.712G>T c.3381G>T (p.Leu1127=) c.3150G>T (n.3150G>T) c.3225G>T (p.Leu1075=) c.2541G>T (p.Leu847=) n.3403G>T n.4120G>T | |
9 | g.95453546C>G | CA466107834 | PTCH1 | c.3183G>C (p.Leu1061=) c.3378G>C (p.Leu1126=) c.*1689G>C (n.*1689G>C) c.2928G>C (p.Leu976=) n.712G>C c.3381G>C (p.Leu1127=) c.3150G>C (n.3150G>C) c.3225G>C (p.Leu1075=) c.2541G>C (p.Leu847=) n.3403G>C n.4120G>C | |
9 | g.95453546C>T | CA466107828 | PTCH1 | c.3183G>A (p.Leu1061=) c.3378G>A (p.Leu1126=) c.*1689G>A (n.*1689G>A) c.2928G>A (p.Leu976=) n.712G>A c.3381G>A (p.Leu1127=) c.3150G>A (n.3150G>A) c.3225G>A (p.Leu1075=) c.2541G>A (p.Leu847=) n.3403G>A n.4120G>A | |
9 | g.95453547A>C | CA374111785 | PTCH1 | c.3182T>G (p.Leu1061Arg) c.3377T>G (p.Leu1126Arg) c.*1688T>G (n.*1688T>G) c.2927T>G (p.Leu976Arg) n.711T>G c.3380T>G (p.Leu1127Arg) c.3149T>G (n.3149T>G) c.3224T>G (p.Leu1075Arg) c.2540T>G (p.Leu847Arg) n.3402T>G n.4119T>G | |
9 | g.95453547A>G | CA374111786 | PTCH1 | c.3182T>C (p.Leu1061Pro) c.3377T>C (p.Leu1126Pro) c.*1688T>C (n.*1688T>C) c.2927T>C (p.Leu976Pro) n.711T>C c.3380T>C (p.Leu1127Pro) c.3149T>C (n.3149T>C) c.3224T>C (p.Leu1075Pro) c.2540T>C (p.Leu847Pro) n.3402T>C n.4119T>C | |
9 | g.95453547A>T | CA374111787 | PTCH1 | c.3182T>A (p.Leu1061Gln) c.3377T>A (p.Leu1126Gln) c.*1688T>A (n.*1688T>A) c.2927T>A (p.Leu976Gln) n.711T>A c.3380T>A (p.Leu1127Gln) c.3149T>A (n.3149T>A) c.3224T>A (p.Leu1075Gln) c.2540T>A (p.Leu847Gln) n.3402T>A n.4119T>A | |
9 | g.95453548G>A | CA196571065 | PTCH1 | c.3181C>T (p.Leu1061=) c.3376C>T (p.Leu1126=) c.*1687C>T (n.*1687C>T) c.2926C>T (p.Leu976=) n.710C>T c.3379C>T (p.Leu1127=) c.3148C>T (n.3148C>T) c.3223C>T (p.Leu1075=) c.2539C>T (p.Leu847=) n.3401C>T n.4118C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.95453548G>C | CA374111788 | PTCH1 | c.3181C>G (p.Leu1061Val) c.3376C>G (p.Leu1126Val) c.*1687C>G (n.*1687C>G) c.2926C>G (p.Leu976Val) n.710C>G c.3379C>G (p.Leu1127Val) c.3148C>G (n.3148C>G) c.3223C>G (p.Leu1075Val) c.2539C>G (p.Leu847Val) n.3401C>G n.4118C>G | ClinVar dbSNP |
9 | g.95453548G= | CA1865583928 | PTCH1 | c.3181C= (p.Leu1061=) c.3376C= (p.Leu1126=) c.*1687C= (n.*1687C=) c.2926C= (p.Leu976=) n.710C= c.3379C= (p.Leu1127=) c.3148C= (n.3148C=) c.3223C= (p.Leu1075=) c.2539C= (p.Leu847=) n.3401C= n.4118C= | |
9 | g.95453548G>T | CA374111789 | PTCH1 | c.3181C>A (p.Leu1061Met) c.3376C>A (p.Leu1126Met) c.*1687C>A (n.*1687C>A) c.2926C>A (p.Leu976Met) n.710C>A c.3379C>A (p.Leu1127Met) c.3148C>A (n.3148C>A) c.3223C>A (p.Leu1075Met) c.2539C>A (p.Leu847Met) n.3401C>A n.4118C>A | |
9 | g.95453548_95453549delinsAA | CA645546662 | PTCH1 | c.3180_3181delinsTT (p.Val1060=) c.3375_3376delinsTT (p.Val1125=) c.*1686_*1687delinsTT (n.*1686_*1687delinsTT) c.2925_2926delinsTT (p.Val975=) n.709_710delinsTT c.3378_3379delinsTT (p.Val1126=) c.3147_3148delinsTT (n.3147_3148delinsTT) c.3222_3223delinsTT (p.Val1074=) c.2538_2539delinsTT (p.Val846=) n.3400_3401delinsTT n.4117_4118delinsTT | COSMIC |
9 | g.95453549G>A | CA466107847 | PTCH1 | c.3180C>T (p.Val1060=) c.3375C>T (p.Val1125=) c.*1686C>T (n.*1686C>T) c.2925C>T (p.Val975=) n.709C>T c.3378C>T (p.Val1126=) c.3147C>T (n.3147C>T) c.3222C>T (p.Val1074=) c.2538C>T (p.Val846=) n.3400C>T n.4117C>T | ClinVar |
9 | g.95453549G>C | CA466107849 | PTCH1 | c.3180C>G (p.Val1060=) c.3375C>G (p.Val1125=) c.*1686C>G (n.*1686C>G) c.2925C>G (p.Val975=) n.709C>G c.3378C>G (p.Val1126=) c.3147C>G (n.3147C>G) c.3222C>G (p.Val1074=) c.2538C>G (p.Val846=) n.3400C>G n.4117C>G | ClinVar gnomAD v4 |
9 | g.95453549G>T | CA466107851 | PTCH1 | c.3180C>A (p.Val1060=) c.3375C>A (p.Val1125=) c.*1686C>A (n.*1686C>A) c.2925C>A (p.Val975=) n.709C>A c.3378C>A (p.Val1126=) c.3147C>A (n.3147C>A) c.3222C>A (p.Val1074=) c.2538C>A (p.Val846=) n.3400C>A n.4117C>A | |
9 | g.95453550A>C | CA374111790 | PTCH1 | c.3179T>G (p.Val1060Gly) c.3374T>G (p.Val1125Gly) c.*1685T>G (n.*1685T>G) c.2924T>G (p.Val975Gly) n.708T>G c.3377T>G (p.Val1126Gly) c.3146T>G (n.3146T>G) c.3221T>G (p.Val1074Gly) c.2537T>G (p.Val846Gly) n.3399T>G n.4116T>G | |
9 | g.95453550A>G | CA374111791 | PTCH1 | c.3179T>C (p.Val1060Ala) c.3374T>C (p.Val1125Ala) c.*1685T>C (n.*1685T>C) c.2924T>C (p.Val975Ala) n.708T>C c.3377T>C (p.Val1126Ala) c.3146T>C (n.3146T>C) c.3221T>C (p.Val1074Ala) c.2537T>C (p.Val846Ala) n.3399T>C n.4116T>C | |
9 | g.95453550A>T | CA374111792 | PTCH1 | c.3179T>A (p.Val1060Asp) c.3374T>A (p.Val1125Asp) c.*1685T>A (n.*1685T>A) c.2924T>A (p.Val975Asp) n.708T>A c.3377T>A (p.Val1126Asp) c.3146T>A (n.3146T>A) c.3221T>A (p.Val1074Asp) c.2537T>A (p.Val846Asp) n.3399T>A n.4116T>A | dbSNP |
9 | g.95453551C>A | CA374111793 | PTCH1 | c.3178G>T (p.Val1060Phe) c.3373G>T (p.Val1125Phe) c.*1684G>T (n.*1684G>T) c.2923G>T (p.Val975Phe) n.707G>T c.3376G>T (p.Val1126Phe) c.3145G>T (n.3145G>T) c.3220G>T (p.Val1074Phe) c.2536G>T (p.Val846Phe) n.3398G>T n.4115G>T | ClinVar dbSNP |
9 | g.95453551C= | CA1865583941 | PTCH1 | c.3178G= (p.Val1060=) c.3373G= (p.Val1125=) c.*1684G= (n.*1684G=) c.2923G= (p.Val975=) n.707G= c.3376G= (p.Val1126=) c.3145G= (n.3145G=) c.3220G= (p.Val1074=) c.2536G= (p.Val846=) n.3398G= n.4115G= | |
9 | g.95453551C>G | CA374111794 | PTCH1 | c.3178G>C (p.Val1060Leu) c.3373G>C (p.Val1125Leu) c.*1684G>C (n.*1684G>C) c.2923G>C (p.Val975Leu) n.707G>C c.3376G>C (p.Val1126Leu) c.3145G>C (n.3145G>C) c.3220G>C (p.Val1074Leu) c.2536G>C (p.Val846Leu) n.3398G>C n.4115G>C | |
9 | g.95453551C>T | CA161694 | PTCH1 | c.3178G>A (p.Val1060Ile) c.3373G>A (p.Val1125Ile) c.*1684G>A (n.*1684G>A) c.2923G>A (p.Val975Ile) n.707G>A c.3376G>A (p.Val1126Ile) c.3145G>A (n.3145G>A) c.3220G>A (p.Val1074Ile) c.2536G>A (p.Val846Ile) n.3398G>A n.4115G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.95453552G>A | CA5138162 | PTCH1 | c.3177C>T (p.Pro1059=) c.3372C>T (p.Pro1124=) c.*1683C>T (n.*1683C>T) c.2922C>T (p.Pro974=) n.706C>T c.3375C>T (p.Pro1125=) c.3144C>T (n.3144C>T) c.3219C>T (p.Pro1073=) c.2535C>T (p.Pro845=) n.3397C>T n.4114C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
9 | g.95453552G>C | CA466107868 | PTCH1 | c.3177C>G (p.Pro1059=) c.3372C>G (p.Pro1124=) c.*1683C>G (n.*1683C>G) c.2922C>G (p.Pro974=) n.706C>G c.3375C>G (p.Pro1125=) c.3144C>G (n.3144C>G) c.3219C>G (p.Pro1073=) c.2535C>G (p.Pro845=) n.3397C>G n.4114C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.95453552G= | CA1865583949 | PTCH1 | c.3177C= (p.Pro1059=) c.3372C= (p.Pro1124=) c.*1683C= (n.*1683C=) c.2922C= (p.Pro974=) n.706C= c.3375C= (p.Pro1125=) c.3144C= (n.3144C=) c.3219C= (p.Pro1073=) c.2535C= (p.Pro845=) n.3397C= n.4114C= | |
9 | g.95453552G>T | CA466107870 | PTCH1 | c.3177C>A (p.Pro1059=) c.3372C>A (p.Pro1124=) c.*1683C>A (n.*1683C>A) c.2922C>A (p.Pro974=) n.706C>A c.3375C>A (p.Pro1125=) c.3144C>A (n.3144C>A) c.3219C>A (p.Pro1073=) c.2535C>A (p.Pro845=) n.3397C>A n.4114C>A | ClinVar dbSNP gnomAD v4 |
9 | g.95453554del | CA2695210757 | PTCH1 | c.3177del (p.Val1060SerfsTer13) c.3372del (p.Val1125SerfsTer13) c.*1683del (n.*1683del) c.2922del (p.Val975SerfsTer13) n.706del c.3375del (p.Val1126SerfsTer13) c.3144del (n.3144del) c.3219del (p.Val1074SerfsTer13) c.2535del (p.Val846SerfsTer13) n.3397del n.4114del | |
9 | g.95453553G>A | CA374111795 | PTCH1 | c.3176C>T (p.Pro1059Leu) c.3371C>T (p.Pro1124Leu) c.*1682C>T (n.*1682C>T) c.2921C>T (p.Pro974Leu) n.705C>T c.3374C>T (p.Pro1125Leu) c.3143C>T (n.3143C>T) c.3218C>T (p.Pro1073Leu) c.2534C>T (p.Pro845Leu) n.3396C>T n.4113C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.95453553G>C | CA374111796 | PTCH1 | c.3176C>G (p.Pro1059Arg) c.3371C>G (p.Pro1124Arg) c.*1682C>G (n.*1682C>G) c.2921C>G (p.Pro974Arg) n.705C>G c.3374C>G (p.Pro1125Arg) c.3143C>G (n.3143C>G) c.3218C>G (p.Pro1073Arg) c.2534C>G (p.Pro845Arg) n.3396C>G n.4113C>G | |
9 | g.95453553G= | CA1865583962 | PTCH1 | c.3176C= (p.Pro1059=) c.3371C= (p.Pro1124=) c.*1682C= (n.*1682C=) c.2921C= (p.Pro974=) n.705C= c.3374C= (p.Pro1125=) c.3143C= (n.3143C=) c.3218C= (p.Pro1073=) c.2534C= (p.Pro845=) n.3396C= n.4113C= | |
9 | g.95453553G>T | CA374111797 | PTCH1 | c.3176C>A (p.Pro1059His) c.3371C>A (p.Pro1124His) c.*1682C>A (n.*1682C>A) c.2921C>A (p.Pro974His) n.705C>A c.3374C>A (p.Pro1125His) c.3143C>A (n.3143C>A) c.3218C>A (p.Pro1073His) c.2534C>A (p.Pro845His) n.3396C>A n.4113C>A | |
9 | g.95453554G>A | CA374111798 | PTCH1 | c.3175C>T (p.Pro1059Ser) c.3370C>T (p.Pro1124Ser) c.*1681C>T (n.*1681C>T) c.2920C>T (p.Pro974Ser) n.704C>T c.3373C>T (p.Pro1125Ser) c.3142C>T (n.3142C>T) c.3217C>T (p.Pro1073Ser) c.2533C>T (p.Pro845Ser) n.3395C>T n.4112C>T | ClinVar dbSNP |
9 | g.95453554G>C | CA374111799 | PTCH1 | c.3175C>G (p.Pro1059Ala) c.3370C>G (p.Pro1124Ala) c.*1681C>G (n.*1681C>G) c.2920C>G (p.Pro974Ala) n.704C>G c.3373C>G (p.Pro1125Ala) c.3142C>G (n.3142C>G) c.3217C>G (p.Pro1073Ala) c.2533C>G (p.Pro845Ala) n.3395C>G n.4112C>G | ClinVar dbSNP gnomAD v4 |
9 | g.95453554G>T | CA374111800 | PTCH1 | c.3175C>A (p.Pro1059Thr) c.3370C>A (p.Pro1124Thr) c.*1681C>A (n.*1681C>A) c.2920C>A (p.Pro974Thr) n.704C>A c.3373C>A (p.Pro1125Thr) c.3142C>A (n.3142C>A) c.3217C>A (p.Pro1073Thr) c.2533C>A (p.Pro845Thr) n.3395C>A n.4112C>A | |
9 | g.95453558_95453567del | CA2695210758 | PTCH1 | c.3166_3175del (p.Met1056ProfsTer14) c.3361_3370del (p.Met1121ProfsTer14) c.*1672_*1681del (n.*1672_*1681del) c.2911_2920del (p.Met971ProfsTer14) n.695_704del c.3364_3373del (p.Met1122ProfsTer14) c.3133_3142del (n.3133_3142del) c.3208_3217del (p.Met1070ProfsTer14) c.2524_2533del (p.Met842ProfsTer14) n.3386_3395del n.4103_4112del | |
9 | g.95453555del | CA2580081160 | PTCH1 | c.3174del (p.Val1060SerfsTer13) c.3369del (p.Val1125SerfsTer13) c.*1680del (n.*1680del) c.2919del (p.Val975SerfsTer13) n.703del c.3372del (p.Val1126SerfsTer13) c.3141del (n.3141del) c.3216del (p.Val1074SerfsTer13) c.2532del (p.Val846SerfsTer13) n.3394del n.4111del | ClinVar |
9 | g.95453555T>A | CA349550 | PTCH1 | c.3174A>T (p.Ala1058=) c.3369A>T (p.Ala1123=) c.*1680A>T (n.*1680A>T) c.2919A>T (p.Ala973=) n.703A>T c.3372A>T (p.Ala1124=) c.3141A>T (n.3141A>T) c.3216A>T (p.Ala1072=) c.2532A>T (p.Ala844=) n.3394A>T n.4111A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.95453555T>C | CA466107885 | PTCH1 | c.3174A>G (p.Ala1058=) c.3369A>G (p.Ala1123=) c.*1680A>G (n.*1680A>G) c.2919A>G (p.Ala973=) n.703A>G c.3372A>G (p.Ala1124=) c.3141A>G (n.3141A>G) c.3216A>G (p.Ala1072=) c.2532A>G (p.Ala844=) n.3394A>G n.4111A>G | |
9 | g.95453555T>G | CA466107888 | PTCH1 | c.3174A>C (p.Ala1058=) c.3369A>C (p.Ala1123=) c.*1680A>C (n.*1680A>C) c.2919A>C (p.Ala973=) n.703A>C c.3372A>C (p.Ala1124=) c.3141A>C (n.3141A>C) c.3216A>C (p.Ala1072=) c.2532A>C (p.Ala844=) n.3394A>C n.4111A>C | |
9 | g.95453555T= | CA1865583967 | PTCH1 | c.3174A= (p.Ala1058=) c.3369A= (p.Ala1123=) c.*1680A= (n.*1680A=) c.2919A= (p.Ala973=) n.703A= c.3372A= (p.Ala1124=) c.3141A= (n.3141A=) c.3216A= (p.Ala1072=) c.2532A= (p.Ala844=) n.3394A= n.4111A= | |
9 | g.95453556del | CA2695210759 | PTCH1 | c.3173del (p.Ala1058AspfsTer15) c.3368del (p.Ala1123AspfsTer15) c.*1679del (n.*1679del) c.2918del (p.Ala973AspfsTer15) n.702del c.3371del (p.Ala1124AspfsTer15) c.3140del (n.3140del) c.3215del (p.Ala1072AspfsTer15) c.2531del (p.Ala844AspfsTer15) n.3393del n.4110del | |
9 | g.95453556G>A | CA5138163 | PTCH1 | c.3173C>T (p.Ala1058Val) c.3368C>T (p.Ala1123Val) c.*1679C>T (n.*1679C>T) c.2918C>T (p.Ala973Val) n.702C>T c.3371C>T (p.Ala1124Val) c.3140C>T (n.3140C>T) c.3215C>T (p.Ala1072Val) c.2531C>T (p.Ala844Val) n.3393C>T n.4110C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.95453556G>C | CA374111801 | PTCH1 | c.3173C>G (p.Ala1058Gly) c.3368C>G (p.Ala1123Gly) c.*1679C>G (n.*1679C>G) c.2918C>G (p.Ala973Gly) n.702C>G c.3371C>G (p.Ala1124Gly) c.3140C>G (n.3140C>G) c.3215C>G (p.Ala1072Gly) c.2531C>G (p.Ala844Gly) n.3393C>G n.4110C>G | |
9 | g.95453556G= | CA1865583969 | PTCH1 | c.3173C= (p.Ala1058=) c.3368C= (p.Ala1123=) c.*1679C= (n.*1679C=) c.2918C= (p.Ala973=) n.702C= c.3371C= (p.Ala1124=) c.3140C= (n.3140C=) c.3215C= (p.Ala1072=) c.2531C= (p.Ala844=) n.3393C= n.4110C= | |
9 | g.95453556G>T | CA374111802 | PTCH1 | c.3173C>A (p.Ala1058Glu) c.3368C>A (p.Ala1123Glu) c.*1679C>A (n.*1679C>A) c.2918C>A (p.Ala973Glu) n.702C>A c.3371C>A (p.Ala1124Glu) c.3140C>A (n.3140C>A) c.3215C>A (p.Ala1072Glu) c.2531C>A (p.Ala844Glu) n.3393C>A n.4110C>A | |
9 | g.95453557C>A | CA374111805 | PTCH1 | c.3172G>T (p.Ala1058Ser) c.3367G>T (p.Ala1123Ser) c.*1678G>T (n.*1678G>T) c.2917G>T (p.Ala973Ser) n.701G>T c.3370G>T (p.Ala1124Ser) c.3139G>T (n.3139G>T) c.3214G>T (p.Ala1072Ser) c.2530G>T (p.Ala844Ser) n.3392G>T n.4109G>T | |
9 | g.95453557C>G | CA374111804 | PTCH1 | c.3172G>C (p.Ala1058Pro) c.3367G>C (p.Ala1123Pro) c.*1678G>C (n.*1678G>C) c.2917G>C (p.Ala973Pro) n.701G>C c.3370G>C (p.Ala1124Pro) c.3139G>C (n.3139G>C) c.3214G>C (p.Ala1072Pro) c.2530G>C (p.Ala844Pro) n.3392G>C n.4109G>C | |
9 | g.95453557C>T | CA374111803 | PTCH1 | c.3172G>A (p.Ala1058Thr) c.3367G>A (p.Ala1123Thr) c.*1678G>A (n.*1678G>A) c.2917G>A (p.Ala973Thr) n.701G>A c.3370G>A (p.Ala1124Thr) c.3139G>A (n.3139G>A) c.3214G>A (p.Ala1072Thr) c.2530G>A (p.Ala844Thr) n.3392G>A n.4109G>A | dbSNP |
9 | g.95453558A>C | CA374111806 | PTCH1 | c.3171T>G (p.Phe1057Leu) c.3366T>G (p.Phe1122Leu) c.*1677T>G (n.*1677T>G) c.2916T>G (p.Phe972Leu) n.700T>G c.3369T>G (p.Phe1123Leu) c.3138T>G (n.3138T>G) c.3213T>G (p.Phe1071Leu) c.2529T>G (p.Phe843Leu) n.3391T>G n.4108T>G | |
9 | g.95453558A>G | CA466107904 | PTCH1 | c.3171T>C (p.Phe1057=) c.3366T>C (p.Phe1122=) c.*1677T>C (n.*1677T>C) c.2916T>C (p.Phe972=) n.700T>C c.3369T>C (p.Phe1123=) c.3138T>C (n.3138T>C) c.3213T>C (p.Phe1071=) c.2529T>C (p.Phe843=) n.3391T>C n.4108T>C | ClinVar dbSNP |
9 | g.95453558A>T | CA374111807 | PTCH1 | c.3171T>A (p.Phe1057Leu) c.3366T>A (p.Phe1122Leu) c.*1677T>A (n.*1677T>A) c.2916T>A (p.Phe972Leu) n.700T>A c.3369T>A (p.Phe1123Leu) c.3138T>A (n.3138T>A) c.3213T>A (p.Phe1071Leu) c.2529T>A (p.Phe843Leu) n.3391T>A n.4108T>A | |
9 | g.95453559A>C | CA374111808 | PTCH1 | c.3170T>G (p.Phe1057Cys) c.3365T>G (p.Phe1122Cys) c.*1676T>G (n.*1676T>G) c.2915T>G (p.Phe972Cys) n.699T>G c.3368T>G (p.Phe1123Cys) c.3137T>G (n.3137T>G) c.3212T>G (p.Phe1071Cys) c.2528T>G (p.Phe843Cys) n.3390T>G n.4107T>G | |
9 | g.95453559A>G | CA374111809 | PTCH1 | c.3170T>C (p.Phe1057Ser) c.3365T>C (p.Phe1122Ser) c.*1676T>C (n.*1676T>C) c.2915T>C (p.Phe972Ser) n.699T>C c.3368T>C (p.Phe1123Ser) c.3137T>C (n.3137T>C) c.3212T>C (p.Phe1071Ser) c.2528T>C (p.Phe843Ser) n.3390T>C n.4107T>C | |
9 | g.95453559A>T | CA374111810 | PTCH1 | c.3170T>A (p.Phe1057Tyr) c.3365T>A (p.Phe1122Tyr) c.*1676T>A (n.*1676T>A) c.2915T>A (p.Phe972Tyr) n.699T>A c.3368T>A (p.Phe1123Tyr) c.3137T>A (n.3137T>A) c.3212T>A (p.Phe1071Tyr) c.2528T>A (p.Phe843Tyr) n.3390T>A n.4107T>A | |
9 | g.95453560A>C | CA374111811 | PTCH1 | c.3169T>G (p.Phe1057Val) c.3364T>G (p.Phe1122Val) c.*1675T>G (n.*1675T>G) c.2914T>G (p.Phe972Val) n.698T>G c.3367T>G (p.Phe1123Val) c.3136T>G (n.3136T>G) c.3211T>G (p.Phe1071Val) c.2527T>G (p.Phe843Val) n.3389T>G n.4106T>G | |
9 | g.95453560A>G | CA374111812 | PTCH1 | c.3169T>C (p.Phe1057Leu) c.3364T>C (p.Phe1122Leu) c.*1675T>C (n.*1675T>C) c.2914T>C (p.Phe972Leu) n.698T>C c.3367T>C (p.Phe1123Leu) c.3136T>C (n.3136T>C) c.3211T>C (p.Phe1071Leu) c.2527T>C (p.Phe843Leu) n.3389T>C n.4106T>C | |
9 | g.95453560A>T | CA374111813 | PTCH1 | c.3169T>A (p.Phe1057Ile) c.3364T>A (p.Phe1122Ile) c.*1675T>A (n.*1675T>A) c.2914T>A (p.Phe972Ile) n.698T>A c.3367T>A (p.Phe1123Ile) c.3136T>A (n.3136T>A) c.3211T>A (p.Phe1071Ile) c.2527T>A (p.Phe843Ile) n.3389T>A n.4106T>A | |
9 | g.95453561C>A | CA374111814 | PTCH1 | c.3168G>T (p.Met1056Ile) c.3363G>T (p.Met1121Ile) c.*1674G>T (n.*1674G>T) c.2913G>T (p.Met971Ile) n.697G>T c.3366G>T (p.Met1122Ile) c.3135G>T (n.3135G>T) c.3210G>T (p.Met1070Ile) c.2526G>T (p.Met842Ile) n.3388G>T n.4105G>T | dbSNP |
9 | g.95453561C>G | CA374111815 | PTCH1 | c.3168G>C (p.Met1056Ile) c.3363G>C (p.Met1121Ile) c.*1674G>C (n.*1674G>C) c.2913G>C (p.Met971Ile) n.697G>C c.3366G>C (p.Met1122Ile) c.3135G>C (n.3135G>C) c.3210G>C (p.Met1070Ile) c.2526G>C (p.Met842Ile) n.3388G>C n.4105G>C | |
9 | g.95453561C>T | CA374111816 | PTCH1 | c.3168G>A (p.Met1056Ile) c.3363G>A (p.Met1121Ile) c.*1674G>A (n.*1674G>A) c.2913G>A (p.Met971Ile) n.697G>A c.3366G>A (p.Met1122Ile) c.3135G>A (n.3135G>A) c.3210G>A (p.Met1070Ile) c.2526G>A (p.Met842Ile) n.3388G>A n.4105G>A | |
9 | g.95453561_95453563delinsCAT | CA1865583974 | PTCH1 | c.3166_3168delinsATG (p.Met1056=) c.3361_3363delinsATG (p.Met1121=) c.*1672_*1674delinsATG (n.*1672_*1674delinsATG) c.2911_2913delinsATG (p.Met971=) n.695_697delinsATG c.3364_3366delinsATG (p.Met1122=) c.3133_3135delinsATG (n.3133_3135delinsATG) c.3208_3210delinsATG (p.Met1070=) c.2524_2526delinsATG (p.Met842=) n.3386_3388delinsATG n.4103_4105delinsATG | |
9 | g.95453562A= | CA1865583987 | PTCH1 | c.3167T= (p.Met1056=) c.3362T= (p.Met1121=) c.*1673T= (n.*1673T=) c.2912T= (p.Met971=) n.696T= c.3365T= (p.Met1122=) c.3134T= (n.3134T=) c.3209T= (p.Met1070=) c.2525T= (p.Met842=) n.3387T= n.4104T= | |
9 | g.95453562A>C | CA374111818 | PTCH1 | c.3167T>G (p.Met1056Arg) c.3362T>G (p.Met1121Arg) c.*1673T>G (n.*1673T>G) c.2912T>G (p.Met971Arg) n.696T>G c.3365T>G (p.Met1122Arg) c.3134T>G (n.3134T>G) c.3209T>G (p.Met1070Arg) c.2525T>G (p.Met842Arg) n.3387T>G n.4104T>G | |
9 | g.95453562A>G | CA374111817 | PTCH1 | c.3167T>C (p.Met1056Thr) c.3362T>C (p.Met1121Thr) c.*1673T>C (n.*1673T>C) c.2912T>C (p.Met971Thr) n.696T>C c.3365T>C (p.Met1122Thr) c.3134T>C (n.3134T>C) c.3209T>C (p.Met1070Thr) c.2525T>C (p.Met842Thr) n.3387T>C n.4104T>C | ClinVar gnomAD v4 |
9 | g.95453562A>T | CA196571104 | PTCH1 | c.3167T>A (p.Met1056Lys) c.3362T>A (p.Met1121Lys) c.*1673T>A (n.*1673T>A) c.2912T>A (p.Met971Lys) n.696T>A c.3365T>A (p.Met1122Lys) c.3134T>A (n.3134T>A) c.3209T>A (p.Met1070Lys) c.2525T>A (p.Met842Lys) n.3387T>A n.4104T>A | ClinVar dbSNP gnomAD v4 |
9 | g.95453562_95453563del | CA16612827 | PTCH1 | c.3166_3167del (p.Met1056ValfsTer22) c.3361_3362del (p.Met1121ValfsTer22) c.*1672_*1673del (n.*1672_*1673del) c.2911_2912del (p.Met971ValfsTer22) n.695_696del c.3364_3365del (p.Met1122ValfsTer22) c.3133_3134del (n.3133_3134del) c.3208_3209del (p.Met1070ValfsTer22) c.2524_2525del (p.Met842ValfsTer22) n.3386_3387del n.4103_4104del | ClinVar dbSNP |
9 | g.95453563T>A | CA374111819 | PTCH1 | c.3166A>T (p.Met1056Leu) c.3361A>T (p.Met1121Leu) c.*1672A>T (n.*1672A>T) c.2911A>T (p.Met971Leu) n.695A>T c.3364A>T (p.Met1122Leu) c.3133A>T (n.3133A>T) c.3208A>T (p.Met1070Leu) c.2524A>T (p.Met842Leu) n.3386A>T n.4103A>T | |
9 | g.95453563T>C | CA374111821 | PTCH1 | c.3166A>G (p.Met1056Val) c.3361A>G (p.Met1121Val) c.*1672A>G (n.*1672A>G) c.2911A>G (p.Met971Val) n.695A>G c.3364A>G (p.Met1122Val) c.3133A>G (n.3133A>G) c.3208A>G (p.Met1070Val) c.2524A>G (p.Met842Val) n.3386A>G n.4103A>G | ClinVar dbSNP gnomAD v4 |
9 | g.95453563T>G | CA374111820 | PTCH1 | c.3166A>C (p.Met1056Leu) c.3361A>C (p.Met1121Leu) c.*1672A>C (n.*1672A>C) c.2911A>C (p.Met971Leu) n.695A>C c.3364A>C (p.Met1122Leu) c.3133A>C (n.3133A>C) c.3208A>C (p.Met1070Leu) c.2524A>C (p.Met842Leu) n.3386A>C n.4103A>C | |
9 | g.95453563T= | CA1865583996 | PTCH1 | c.3166A= (p.Met1056=) c.3361A= (p.Met1121=) c.*1672A= (n.*1672A=) c.2911A= (p.Met971=) n.695A= c.3364A= (p.Met1122=) c.3133A= (n.3133A=) c.3208A= (p.Met1070=) c.2524A= (p.Met842=) n.3386A= n.4103A= | |
9 | g.95453563_95453564delinsTG | CA1865584002 | PTCH1 | c.3165_3166delinsCA (p.His1055=) c.3360_3361delinsCA (p.His1120=) c.*1671_*1672delinsCA (n.*1671_*1672delinsCA) c.2910_2911delinsCA (p.His970=) n.694_695delinsCA c.3363_3364delinsCA (p.His1121=) c.3132_3133delinsCA (n.3132_3133delinsCA) c.3207_3208delinsCA (p.His1069=) c.2523_2524delinsCA (p.His841=) n.3385_3386delinsCA n.4102_4103delinsCA | |
9 | g.95453564del | CA1139661041 | PTCH1 | c.3165del (p.His1055GlnfsTer18) c.3360del (p.His1120GlnfsTer18) c.*1671del (n.*1671del) c.2910del (p.His970GlnfsTer18) n.694del c.3363del (p.His1121GlnfsTer18) c.3132del (n.3132del) c.3207del (p.His1069GlnfsTer18) c.2523del (p.His841GlnfsTer18) n.3385del n.4102del | ClinVar dbSNP |
9 | g.95453564G>A | CA466107935 | PTCH1 | c.3165C>T (p.His1055=) c.3360C>T (p.His1120=) c.*1671C>T (n.*1671C>T) c.2910C>T (p.His970=) n.694C>T c.3363C>T (p.His1121=) c.3132C>T (n.3132C>T) c.3207C>T (p.His1069=) c.2523C>T (p.His841=) n.3385C>T n.4102C>T | ClinVar gnomAD v4 |
9 | g.95453564G>C | CA374111822 | PTCH1 | c.3165C>G (p.His1055Gln) c.3360C>G (p.His1120Gln) c.*1671C>G (n.*1671C>G) c.2910C>G (p.His970Gln) n.694C>G c.3363C>G (p.His1121Gln) c.3132C>G (n.3132C>G) c.3207C>G (p.His1069Gln) c.2523C>G (p.His841Gln) n.3385C>G n.4102C>G | dbSNP |
9 | g.95453564G>T | CA374111823 | PTCH1 | c.3165C>A (p.His1055Gln) c.3360C>A (p.His1120Gln) c.*1671C>A (n.*1671C>A) c.2910C>A (p.His970Gln) n.694C>A c.3363C>A (p.His1121Gln) c.3132C>A (n.3132C>A) c.3207C>A (p.His1069Gln) c.2523C>A (p.His841Gln) n.3385C>A n.4102C>A | |
9 | g.95453565T>A | CA374111824 | PTCH1 | c.3164A>T (p.His1055Leu) c.3359A>T (p.His1120Leu) c.*1670A>T (n.*1670A>T) c.2909A>T (p.His970Leu) n.693A>T c.3362A>T (p.His1121Leu) c.3131A>T (n.3131A>T) c.3206A>T (p.His1069Leu) c.2522A>T (p.His841Leu) n.3384A>T n.4101A>T | ClinVar dbSNP |
9 | g.95453565T>C | CA374111825 | PTCH1 | c.3164A>G (p.His1055Arg) c.3359A>G (p.His1120Arg) c.*1670A>G (n.*1670A>G) c.2909A>G (p.His970Arg) n.693A>G c.3362A>G (p.His1121Arg) c.3131A>G (n.3131A>G) c.3206A>G (p.His1069Arg) c.2522A>G (p.His841Arg) n.3384A>G n.4101A>G | ClinVar dbSNP |
9 | g.95453565T>G | CA374111826 | PTCH1 | c.3164A>C (p.His1055Pro) c.3359A>C (p.His1120Pro) c.*1670A>C (n.*1670A>C) c.2909A>C (p.His970Pro) n.693A>C c.3362A>C (p.His1121Pro) c.3131A>C (n.3131A>C) c.3206A>C (p.His1069Pro) c.2522A>C (p.His841Pro) n.3384A>C n.4101A>C | |
9 | g.95453565T= | CA1865584012 | PTCH1 | c.3164A= (p.His1055=) c.3359A= (p.His1120=) c.*1670A= (n.*1670A=) c.2909A= (p.His970=) n.693A= c.3362A= (p.His1121=) c.3131A= (n.3131A=) c.3206A= (p.His1069=) c.2522A= (p.His841=) n.3384A= n.4101A= | |
9 | g.95453566G>A | CA374111827 | PTCH1 | c.3163C>T (p.His1055Tyr) c.3358C>T (p.His1120Tyr) c.*1669C>T (n.*1669C>T) c.2908C>T (p.His970Tyr) n.692C>T c.3361C>T (p.His1121Tyr) c.3130C>T (n.3130C>T) c.3205C>T (p.His1069Tyr) c.2521C>T (p.His841Tyr) n.3383C>T n.4100C>T | |
9 | g.95453566G>C | CA374111828 | PTCH1 | c.3163C>G (p.His1055Asp) c.3358C>G (p.His1120Asp) c.*1669C>G (n.*1669C>G) c.2908C>G (p.His970Asp) n.692C>G c.3361C>G (p.His1121Asp) c.3130C>G (n.3130C>G) c.3205C>G (p.His1069Asp) c.2521C>G (p.His841Asp) n.3383C>G n.4100C>G | |
9 | g.95453566G>T | CA374111829 | PTCH1 | c.3163C>A (p.His1055Asn) c.3358C>A (p.His1120Asn) c.*1669C>A (n.*1669C>A) c.2908C>A (p.His970Asn) n.692C>A c.3361C>A (p.His1121Asn) c.3130C>A (n.3130C>A) c.3205C>A (p.His1069Asn) c.2521C>A (p.His841Asn) n.3383C>A n.4100C>A | |
9 | g.95453567C>A | CA374111830 | PTCH1 | c.3162G>T (p.Glu1054Asp) c.3357G>T (p.Glu1119Asp) c.*1668G>T (n.*1668G>T) c.2907G>T (p.Glu969Asp) n.691G>T c.3360G>T (p.Glu1120Asp) c.3129G>T (n.3129G>T) c.3204G>T (p.Glu1068Asp) c.2520G>T (p.Glu840Asp) n.3382G>T n.4099G>T | |
9 | g.95453567C= | CA1865584022 | PTCH1 | c.3162G= (p.Glu1054=) c.3357G= (p.Glu1119=) c.*1668G= (n.*1668G=) c.2907G= (p.Glu969=) n.691G= c.3360G= (p.Glu1120=) c.3129G= (n.3129G=) c.3204G= (p.Glu1068=) c.2520G= (p.Glu840=) n.3382G= n.4099G= | |
9 | g.95453567C>G | CA374111831 | PTCH1 | c.3162G>C (p.Glu1054Asp) c.3357G>C (p.Glu1119Asp) c.*1668G>C (n.*1668G>C) c.2907G>C (p.Glu969Asp) n.691G>C c.3360G>C (p.Glu1120Asp) c.3129G>C (n.3129G>C) c.3204G>C (p.Glu1068Asp) c.2520G>C (p.Glu840Asp) n.3382G>C n.4099G>C | |
9 | g.95453567C>T | CA466107952 | PTCH1 | c.3162G>A (p.Glu1054=) c.3357G>A (p.Glu1119=) c.*1668G>A (n.*1668G>A) c.2907G>A (p.Glu969=) n.691G>A c.3360G>A (p.Glu1120=) c.3129G>A (n.3129G>A) c.3204G>A (p.Glu1068=) c.2520G>A (p.Glu840=) n.3382G>A n.4099G>A | ClinVar dbSNP gnomAD v4 |
9 | g.95453568T>A | CA374111834 | PTCH1 | c.3161A>T (p.Glu1054Val) c.3356A>T (p.Glu1119Val) c.*1667A>T (n.*1667A>T) c.2906A>T (p.Glu969Val) n.690A>T c.3359A>T (p.Glu1120Val) c.3128A>T (n.3128A>T) c.3203A>T (p.Glu1068Val) c.2519A>T (p.Glu840Val) n.3381A>T n.4098A>T | |
9 | g.95453568T>C | CA374111833 | PTCH1 | c.3161A>G (p.Glu1054Gly) c.3356A>G (p.Glu1119Gly) c.*1667A>G (n.*1667A>G) c.2906A>G (p.Glu969Gly) n.690A>G c.3359A>G (p.Glu1120Gly) c.3128A>G (n.3128A>G) c.3203A>G (p.Glu1068Gly) c.2519A>G (p.Glu840Gly) n.3381A>G n.4098A>G | |
9 | g.95453568T>G | CA374111832 | PTCH1 | c.3161A>C (p.Glu1054Ala) c.3356A>C (p.Glu1119Ala) c.*1667A>C (n.*1667A>C) c.2906A>C (p.Glu969Ala) n.690A>C c.3359A>C (p.Glu1120Ala) c.3128A>C (n.3128A>C) c.3203A>C (p.Glu1068Ala) c.2519A>C (p.Glu840Ala) n.3381A>C n.4098A>C | |
9 | g.95453569C>A | CA374111835 | PTCH1 | c.3160G>T (p.Glu1054Ter) c.3355G>T (p.Glu1119Ter) c.*1666G>T (n.*1666G>T) c.2905G>T (p.Glu969Ter) n.689G>T c.3358G>T (p.Glu1120Ter) c.3127G>T (n.3127G>T) c.3202G>T (p.Glu1068Ter) c.2518G>T (p.Glu840Ter) n.3380G>T n.4097G>T | |
9 | g.95453569C= | CA1865584027 | PTCH1 | c.3160G= (p.Glu1054=) c.3355G= (p.Glu1119=) c.*1666G= (n.*1666G=) c.2905G= (p.Glu969=) n.689G= c.3358G= (p.Glu1120=) c.3127G= (n.3127G=) c.3202G= (p.Glu1068=) c.2518G= (p.Glu840=) n.3380G= n.4097G= | |
9 | g.95453569C>G | CA374111836 | PTCH1 | c.3160G>C (p.Glu1054Gln) c.3355G>C (p.Glu1119Gln) c.*1666G>C (n.*1666G>C) c.2905G>C (p.Glu969Gln) n.689G>C c.3358G>C (p.Glu1120Gln) c.3127G>C (n.3127G>C) c.3202G>C (p.Glu1068Gln) c.2518G>C (p.Glu840Gln) n.3380G>C n.4097G>C | |
9 | g.95453569C>T | CA374111837 | PTCH1 | c.3160G>A (p.Glu1054Lys) c.3355G>A (p.Glu1119Lys) c.*1666G>A (n.*1666G>A) c.2905G>A (p.Glu969Lys) n.689G>A c.3358G>A (p.Glu1120Lys) c.3127G>A (n.3127G>A) c.3202G>A (p.Glu1068Lys) c.2518G>A (p.Glu840Lys) n.3380G>A n.4097G>A | ClinVar dbSNP |
9 | g.95453570del | CA2740095531 | PTCH1 | c.3160del (p.Glu1054SerfsTer19) c.3355del (p.Glu1119SerfsTer19) c.*1666del (n.*1666del) c.2905del (p.Glu969SerfsTer19) n.689del c.3358del (p.Glu1120SerfsTer19) c.3127del (n.3127del) c.3202del (p.Glu1068SerfsTer19) c.2518del (p.Glu840SerfsTer19) n.3380del n.4097del | ClinVar |