UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95458014_95458293del | CA645567403 | PTCH1 | c.2691_2970del (p.Ile897MetfsTer2) c.2886_3165del (p.Ile962MetfsTer2) c.*1197_*1476del (n.*1197_*1476del) c.2436_2715del (p.Ile812MetfsTer2) n.220_499del c.2889_3168del (p.Ile963MetfsTer2) c.2658_2937del (n.2658_2937del) n.239_518del c.2733_3012del (p.Ile911MetfsTer2) c.2049_2328del (p.Ile683MetfsTer2) n.2911_3190del n.3628_3907del | COSMIC |
| 9 | g.95458023_95458026dup | CA645567405 | PTCH1 | c.2960_2963dup (p.Ile989ArgfsTer?) c.3155_3158dup (p.Ile1054ArgfsTer?) c.*1466_*1469dup (n.*1466_*1469dup) c.2705_2708dup (p.Ile904ArgfsTer?) n.489_492dup c.3158_3161dup (p.Ile1055ArgfsTer?) c.2927_2930dup (n.2927_2930dup) n.508_511dup c.3002_3005dup (p.Ile1003ArgfsTer?) c.2318_2321dup (p.Ile775ArgfsTer?) n.3180_3183dup n.3897_3900dup | COSMIC COSMIC COSMIC |
| 9 | g.95458039_95458040insCAGGAAGACAGCGCGGCCGTCCAGGGGTTCAG | CA2697557889 | PTCH1 | c.2962_2963insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG (p.Gly988AlafsTer6) c.3157_3158insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG (p.Gly1053AlafsTer6) c.*1468_*1469insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG (n.*1468_*1469insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG) c.2707_2708insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG (p.Gly903AlafsTer6) n.491_492insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG c.3160_3161insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG (p.Gly1054AlafsTer6) c.2929_2930insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG (n.2929_2930insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG) n.510_511insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG c.3004_3005insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG (p.Gly1002AlafsTer6) c.2320_2321insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG (p.Gly774AlafsTer6) n.3182_3183insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG n.3899_3900insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG | ClinVar |
| 9 | g.95458025_95458051dup | CA1139771722 | PTCH1 | c.2934_2960dup (p.Ala987_Gly988insValPheLeuLeuAsnProTrpThrAla) c.3129_3155dup (p.Ala1052_Gly1053insValPheLeuLeuAsnProTrpThrAla) c.*1440_*1466dup (n.*1440_*1466dup) c.2679_2705dup (p.Ala902_Gly903insValPheLeuLeuAsnProTrpThrAla) n.463_489dup c.3132_3158dup (p.Ala1053_Gly1054insValPheLeuLeuAsnProTrpThrAla) c.2901_2927dup (n.2901_2927dup) n.482_508dup c.2976_3002dup (p.Ala1001_Gly1002insValPheLeuLeuAsnProTrpThrAla) c.2292_2318dup (p.Ala773_Gly774insValPheLeuLeuAsnProTrpThrAla) n.3154_3180dup n.3871_3897dup | |
| 9 | g.95458026_95458027insGCCCTAGTAACACTCTAATCG | CA645567407 | PTCH1 | c.2958_2959insATTAGAGTGTTACTAGGGCCG (p.Thr986_Ala987insIleArgValLeuLeuGlyPro) c.3153_3154insATTAGAGTGTTACTAGGGCCG (p.Thr1051_Ala1052insIleArgValLeuLeuGlyPro) c.*1464_*1465insATTAGAGTGTTACTAGGGCCG (n.*1464_*1465insATTAGAGTGTTACTAGGGCCG) c.2703_2704insATTAGAGTGTTACTAGGGCCG (p.Thr901_Ala902insIleArgValLeuLeuGlyPro) n.487_488insATTAGAGTGTTACTAGGGCCG c.3156_3157insATTAGAGTGTTACTAGGGCCG (p.Thr1052_Ala1053insIleArgValLeuLeuGlyPro) c.2925_2926insATTAGAGTGTTACTAGGGCCG (n.2925_2926insATTAGAGTGTTACTAGGGCCG) n.506_507insATTAGAGTGTTACTAGGGCCG c.3000_3001insATTAGAGTGTTACTAGGGCCG (p.Thr1000_Ala1001insIleArgValLeuLeuGlyPro) c.2316_2317insATTAGAGTGTTACTAGGGCCG (p.Thr772_Ala773insIleArgValLeuLeuGlyPro) n.3178_3179insATTAGAGTGTTACTAGGGCCG n.3895_3896insATTAGAGTGTTACTAGGGCCG | COSMIC COSMIC COSMIC |
| 9 | g.95458027_95458052dup | CA1139771837 | PTCH1 | c.2933_2958dup (p.Ala987LeufsTer5) c.3128_3153dup (p.Ala1052LeufsTer5) c.*1439_*1464dup (n.*1439_*1464dup) c.2678_2703dup (p.Ala902LeufsTer5) n.462_487dup c.3131_3156dup (p.Ala1053LeufsTer5) c.2900_2925dup (n.2900_2925dup) n.481_506dup c.2975_3000dup (p.Ala1001LeufsTer5) c.2291_2316dup (p.Ala773LeufsTer5) n.3153_3178dup n.3870_3895dup | |
| 9 | g.95458026G>A | CA161680 | PTCH1 | c.2957C>T (p.Thr986Met) c.3152C>T (p.Thr1051Met) c.*1463C>T (n.*1463C>T) c.2702C>T (p.Thr901Met) n.486C>T c.3155C>T (p.Thr1052Met) c.2924C>T (n.2924C>T) n.505C>T c.2999C>T (p.Thr1000Met) c.2315C>T (p.Thr772Met) n.3177C>T n.3894C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95458026G>C | CA374112271 | PTCH1 | c.2957C>G (p.Thr986Arg) c.3152C>G (p.Thr1051Arg) c.*1463C>G (n.*1463C>G) c.2702C>G (p.Thr901Arg) n.486C>G c.3155C>G (p.Thr1052Arg) c.2924C>G (n.2924C>G) n.505C>G c.2999C>G (p.Thr1000Arg) c.2315C>G (p.Thr772Arg) n.3177C>G n.3894C>G | |
| 9 | g.95458026G= | CA1865591240 | PTCH1 | c.2957C= (p.Thr986=) c.3152C= (p.Thr1051=) c.*1463C= (n.*1463C=) c.2702C= (p.Thr901=) n.486C= c.3155C= (p.Thr1052=) c.2924C= (n.2924C=) n.505C= c.2999C= (p.Thr1000=) c.2315C= (p.Thr772=) n.3177C= n.3894C= | |
| 9 | g.95458026G>T | CA374112272 | PTCH1 | c.2957C>A (p.Thr986Lys) c.3152C>A (p.Thr1051Lys) c.*1463C>A (n.*1463C>A) c.2702C>A (p.Thr901Lys) n.486C>A c.3155C>A (p.Thr1052Lys) c.2924C>A (n.2924C>A) n.505C>A c.2999C>A (p.Thr1000Lys) c.2315C>A (p.Thr772Lys) n.3177C>A n.3894C>A | ClinVar |
| 9 | g.95458027T>A | CA374112273 | PTCH1 | c.2956A>T (p.Thr986Ser) c.3151A>T (p.Thr1051Ser) c.*1462A>T (n.*1462A>T) c.2701A>T (p.Thr901Ser) n.485A>T c.3154A>T (p.Thr1052Ser) c.2923A>T (n.2923A>T) n.504A>T c.2998A>T (p.Thr1000Ser) c.2314A>T (p.Thr772Ser) n.3176A>T n.3893A>T | |
| 9 | g.95458027T>C | CA374112274 | PTCH1 | c.2956A>G (p.Thr986Ala) c.3151A>G (p.Thr1051Ala) c.*1462A>G (n.*1462A>G) c.2701A>G (p.Thr901Ala) n.485A>G c.3154A>G (p.Thr1052Ala) c.2923A>G (n.2923A>G) n.504A>G c.2998A>G (p.Thr1000Ala) c.2314A>G (p.Thr772Ala) n.3176A>G n.3893A>G | |
| 9 | g.95458027T>G | CA374112275 | PTCH1 | c.2956A>C (p.Thr986Pro) c.3151A>C (p.Thr1051Pro) c.*1462A>C (n.*1462A>C) c.2701A>C (p.Thr901Pro) n.485A>C c.3154A>C (p.Thr1052Pro) c.2923A>C (n.2923A>C) n.504A>C c.2998A>C (p.Thr1000Pro) c.2314A>C (p.Thr772Pro) n.3176A>C n.3893A>C | |
| 9 | g.95458028C>A | CA374112276 | PTCH1 | c.2955G>T (p.Trp985Cys) c.3150G>T (p.Trp1050Cys) c.*1461G>T (n.*1461G>T) c.2700G>T (p.Trp900Cys) n.484G>T c.3153G>T (p.Trp1051Cys) c.2922G>T (n.2922G>T) n.503G>T c.2997G>T (p.Trp999Cys) c.2313G>T (p.Trp771Cys) n.3175G>T n.3892G>T | |
| 9 | g.95458028C>G | CA374112277 | PTCH1 | c.2955G>C (p.Trp985Cys) c.3150G>C (p.Trp1050Cys) c.*1461G>C (n.*1461G>C) c.2700G>C (p.Trp900Cys) n.484G>C c.3153G>C (p.Trp1051Cys) c.2922G>C (n.2922G>C) n.503G>C c.2997G>C (p.Trp999Cys) c.2313G>C (p.Trp771Cys) n.3175G>C n.3892G>C | dbSNP |
| 9 | g.95458028C>T | CA374112278 | PTCH1 | c.2955G>A (p.Trp985Ter) c.3150G>A (p.Trp1050Ter) c.*1461G>A (n.*1461G>A) c.2700G>A (p.Trp900Ter) n.484G>A c.3153G>A (p.Trp1051Ter) c.2922G>A (n.2922G>A) n.503G>A c.2997G>A (p.Trp999Ter) c.2313G>A (p.Trp771Ter) n.3175G>A n.3892G>A | ClinVar COSMIC |
| 9 | g.95458029C>A | CA374112279 | PTCH1 | c.2954G>T (p.Trp985Leu) c.3149G>T (p.Trp1050Leu) c.*1460G>T (n.*1460G>T) c.2699G>T (p.Trp900Leu) n.483G>T c.3152G>T (p.Trp1051Leu) c.2921G>T (n.2921G>T) n.502G>T c.2996G>T (p.Trp999Leu) c.2312G>T (p.Trp771Leu) n.3174G>T n.3891G>T | |
| 9 | g.95458029C= | CA1865591245 | PTCH1 | c.2954G= (p.Trp985=) c.3149G= (p.Trp1050=) c.*1460G= (n.*1460G=) c.2699G= (p.Trp900=) n.483G= c.3152G= (p.Trp1051=) c.2921G= (n.2921G=) n.502G= c.2996G= (p.Trp999=) c.2312G= (p.Trp771=) n.3174G= n.3891G= | |
| 9 | g.95458029C>G | CA374112280 | PTCH1 | c.2954G>C (p.Trp985Ser) c.3149G>C (p.Trp1050Ser) c.*1460G>C (n.*1460G>C) c.2699G>C (p.Trp900Ser) n.483G>C c.3152G>C (p.Trp1051Ser) c.2921G>C (n.2921G>C) n.502G>C c.2996G>C (p.Trp999Ser) c.2312G>C (p.Trp771Ser) n.3174G>C n.3891G>C | |
| 9 | g.95458029C>T | CA16612669 | PTCH1 | c.2954G>A (p.Trp985Ter) c.3149G>A (p.Trp1050Ter) c.*1460G>A (n.*1460G>A) c.2699G>A (p.Trp900Ter) n.483G>A c.3152G>A (p.Trp1051Ter) c.2921G>A (n.2921G>A) n.502G>A c.2996G>A (p.Trp999Ter) c.2312G>A (p.Trp771Ter) n.3174G>A n.3891G>A | ClinVar dbSNP |
| 9 | g.95458029_95458041del | CA2695210777 | PTCH1 | c.2942_2954del (p.Leu981ArgfsTer7) c.3137_3149del (p.Leu1046ArgfsTer7) c.*1448_*1460del (n.*1448_*1460del) c.2687_2699del (p.Leu896ArgfsTer7) n.471_483del c.3140_3152del (p.Leu1047ArgfsTer7) c.2909_2921del (n.2909_2921del) n.490_502del c.2984_2996del (p.Leu995ArgfsTer7) c.2300_2312del (p.Leu767ArgfsTer7) n.3162_3174del n.3879_3891del | |
| 9 | g.95458029_95458030insCCCACGCACAGGCACCGAGCGCACAAATCAGGCCGCAAATTGCCGCATAAACGCTGGCTTGAGCTTCCCAGCGCGTGA | CA2785176310 | PTCH1 | c.2953_2954insTCACGCGCTGGGAAGCTCAAGCCAGCGTTTATGCGGCAATTTGCGGCCTGATTTGTGCGCTCGGTGCCTGTGCGTGGG (p.Trp985delinsPheThrArgTrpGluAlaGlnAlaSerValTyrAlaAlaIleCysGlyLeuIleCysAlaLeuGlyAlaCysAlaTrpGly) c.3148_3149insTCACGCGCTGGGAAGCTCAAGCCAGCGTTTATGCGGCAATTTGCGGCCTGATTTGTGCGCTCGGTGCCTGTGCGTGGG (p.Trp1050delinsPheThrArgTrpGluAlaGlnAlaSerValTyrAlaAlaIleCysGlyLeuIleCysAlaLeuGlyAlaCysAlaTrpGly) c.*1459_*1460insTCACGCGCTGGGAAGCTCAAGCCAGCGTTTATGCGGCAATTTGCGGCCTGATTTGTGCGCTCGGTGCCTGTGCGTGGG (n.*1459_*1460insTCACGCGCTGGGAAGCTCAAGCCAGCGTTTATGCGGCAATTTGCGGCCTGATTTGTGCGCTCGGTGCCTGTGCGTGGG) c.2698_2699insTCACGCGCTGGGAAGCTCAAGCCAGCGTTTATGCGGCAATTTGCGGCCTGATTTGTGCGCTCGGTGCCTGTGCGTGGG (p.Trp900delinsPheThrArgTrpGluAlaGlnAlaSerValTyrAlaAlaIleCysGlyLeuIleCysAlaLeuGlyAlaCysAlaTrpGly) n.482_483insTCACGCGCTGGGAAGCTCAAGCCAGCGTTTATGCGGCAATTTGCGGCCTGATTTGTGCGCTCGGTGCCTGTGCGTGGG c.3151_3152insTCACGCGCTGGGAAGCTCAAGCCAGCGTTTATGCGGCAATTTGCGGCCTGATTTGTGCGCTCGGTGCCTGTGCGTGGG (p.Trp1051delinsPheThrArgTrpGluAlaGlnAlaSerValTyrAlaAlaIleCysGlyLeuIleCysAlaLeuGlyAlaCysAlaTrpGly) c.2920_2921insTCACGCGCTGGGAAGCTCAAGCCAGCGTTTATGCGGCAATTTGCGGCCTGATTTGTGCGCTCGGTGCCTGTGCGTGGG (n.2920_2921insTCACGCGCTGGGAAGCTCAAGCCAGCGTTTATGCGGCAATTTGCGGCCTGATTTGTGCGCTCGGTGCCTGTGCGTGGG) n.501_502insTCACGCGCTGGGAAGCTCAAGCCAGCGTTTATGCGGCAATTTGCGGCCTGATTTGTGCGCTCGGTGCCTGTGCGTGGG c.2995_2996insTCACGCGCTGGGAAGCTCAAGCCAGCGTTTATGCGGCAATTTGCGGCCTGATTTGTGCGCTCGGTGCCTGTGCGTGGG (p.Trp999delinsPheThrArgTrpGluAlaGlnAlaSerValTyrAlaAlaIleCysGlyLeuIleCysAlaLeuGlyAlaCysAlaTrpGly) c.2311_2312insTCACGCGCTGGGAAGCTCAAGCCAGCGTTTATGCGGCAATTTGCGGCCTGATTTGTGCGCTCGGTGCCTGTGCGTGGG (p.Trp771delinsPheThrArgTrpGluAlaGlnAlaSerValTyrAlaAlaIleCysGlyLeuIleCysAlaLeuGlyAlaCysAlaTrpGly) n.3173_3174insTCACGCGCTGGGAAGCTCAAGCCAGCGTTTATGCGGCAATTTGCGGCCTGATTTGTGCGCTCGGTGCCTGTGCGTGGG n.3890_3891insTCACGCGCTGGGAAGCTCAAGCCAGCGTTTATGCGGCAATTTGCGGCCTGATTTGTGCGCTCGGTGCCTGTGCGTGGG | |
| 9 | g.95458030del | CA2697557890 | PTCH1 | c.2953del (p.Trp985GlyfsTer7) c.3148del (p.Trp1050GlyfsTer7) c.*1459del (n.*1459del) c.2698del (p.Trp900GlyfsTer7) n.482del c.3151del (p.Trp1051GlyfsTer7) c.2920del (n.2920del) n.501del c.2995del (p.Trp999GlyfsTer7) c.2311del (p.Trp771GlyfsTer7) n.3173del n.3890del | ClinVar |
| 9 | g.95458030A= | CA1865591255 | PTCH1 | c.2953T= (p.Trp985=) c.3148T= (p.Trp1050=) c.*1459T= (n.*1459T=) c.2698T= (p.Trp900=) n.482T= c.3151T= (p.Trp1051=) c.2920T= (n.2920T=) n.501T= c.2995T= (p.Trp999=) c.2311T= (p.Trp771=) n.3173T= n.3890T= | |
| 9 | g.95458030A>C | CA374112283 | PTCH1 | c.2953T>G (p.Trp985Gly) c.3148T>G (p.Trp1050Gly) c.*1459T>G (n.*1459T>G) c.2698T>G (p.Trp900Gly) n.482T>G c.3151T>G (p.Trp1051Gly) c.2920T>G (n.2920T>G) n.501T>G c.2995T>G (p.Trp999Gly) c.2311T>G (p.Trp771Gly) n.3173T>G n.3890T>G | ClinVar dbSNP gnomAD v4 |
| 9 | g.95458030A>G | CA374112282 | PTCH1 | c.2953T>C (p.Trp985Arg) c.3148T>C (p.Trp1050Arg) c.*1459T>C (n.*1459T>C) c.2698T>C (p.Trp900Arg) n.482T>C c.3151T>C (p.Trp1051Arg) c.2920T>C (n.2920T>C) n.501T>C c.2995T>C (p.Trp999Arg) c.2311T>C (p.Trp771Arg) n.3173T>C n.3890T>C | |
| 9 | g.95458030A>T | CA374112281 | PTCH1 | c.2953T>A (p.Trp985Arg) c.3148T>A (p.Trp1050Arg) c.*1459T>A (n.*1459T>A) c.2698T>A (p.Trp900Arg) n.482T>A c.3151T>A (p.Trp1051Arg) c.2920T>A (n.2920T>A) n.501T>A c.2995T>A (p.Trp999Arg) c.2311T>A (p.Trp771Arg) n.3173T>A n.3890T>A | |
| 9 | g.95458030_95458031delinsAG | CA1865591261 | PTCH1 | c.2952_2953delinsCT (p.Pro984=) c.3147_3148delinsCT (p.Pro1049=) c.*1458_*1459delinsCT (n.*1458_*1459delinsCT) c.2697_2698delinsCT (p.Pro899=) n.481_482delinsCT c.3150_3151delinsCT (p.Pro1050=) c.2919_2920delinsCT (n.2919_2920delinsCT) n.500_501delinsCT c.2994_2995delinsCT (p.Pro998=) c.2310_2311delinsCT (p.Pro770=) n.3172_3173delinsCT n.3889_3890delinsCT | |
| 9 | g.95458031G>A | CA350006 | PTCH1 | c.2952C>T (p.Pro984=) c.3147C>T (p.Pro1049=) c.*1458C>T (n.*1458C>T) c.2697C>T (p.Pro899=) n.481C>T c.3150C>T (p.Pro1050=) c.2919C>T (n.2919C>T) n.500C>T c.2994C>T (p.Pro998=) c.2310C>T (p.Pro770=) n.3172C>T n.3889C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95458031G>C | CA466351855 | PTCH1 | c.2952C>G (p.Pro984=) c.3147C>G (p.Pro1049=) c.*1458C>G (n.*1458C>G) c.2697C>G (p.Pro899=) n.481C>G c.3150C>G (p.Pro1050=) c.2919C>G (n.2919C>G) n.500C>G c.2994C>G (p.Pro998=) c.2310C>G (p.Pro770=) n.3172C>G n.3889C>G | ClinVar |
| 9 | g.95458031G= | CA1865591272 | PTCH1 | c.2952C= (p.Pro984=) c.3147C= (p.Pro1049=) c.*1458C= (n.*1458C=) c.2697C= (p.Pro899=) n.481C= c.3150C= (p.Pro1050=) c.2919C= (n.2919C=) n.500C= c.2994C= (p.Pro998=) c.2310C= (p.Pro770=) n.3172C= n.3889C= | |
| 9 | g.95458031G>T | CA466351857 | PTCH1 | c.2952C>A (p.Pro984=) c.3147C>A (p.Pro1049=) c.*1458C>A (n.*1458C>A) c.2697C>A (p.Pro899=) n.481C>A c.3150C>A (p.Pro1050=) c.2919C>A (n.2919C>A) n.500C>A c.2994C>A (p.Pro998=) c.2310C>A (p.Pro770=) n.3172C>A n.3889C>A | |
| 9 | g.95458034del | CA915947093 | PTCH1 | c.2952del (p.Trp985GlyfsTer7) c.3147del (p.Trp1050GlyfsTer7) c.*1458del (n.*1458del) c.2697del (p.Trp900GlyfsTer7) n.481del c.3150del (p.Trp1051GlyfsTer7) c.2919del (n.2919del) n.500del c.2994del (p.Trp999GlyfsTer7) c.2310del (p.Trp771GlyfsTer7) n.3172del n.3889del | ClinVar dbSNP |
| 9 | g.95458032G>A | CA374112284 | PTCH1 | c.2951C>T (p.Pro984Leu) c.3146C>T (p.Pro1049Leu) c.*1457C>T (n.*1457C>T) c.2696C>T (p.Pro899Leu) n.480C>T c.3149C>T (p.Pro1050Leu) c.2918C>T (n.2918C>T) n.499C>T c.2993C>T (p.Pro998Leu) c.2309C>T (p.Pro770Leu) n.3171C>T n.3888C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95458032G>C | CA374112285 | PTCH1 | c.2951C>G (p.Pro984Arg) c.3146C>G (p.Pro1049Arg) c.*1457C>G (n.*1457C>G) c.2696C>G (p.Pro899Arg) n.480C>G c.3149C>G (p.Pro1050Arg) c.2918C>G (n.2918C>G) n.499C>G c.2993C>G (p.Pro998Arg) c.2309C>G (p.Pro770Arg) n.3171C>G n.3888C>G | ClinVar |
| 9 | g.95458032G= | CA1865591506 | PTCH1 | c.2951C= (p.Pro984=) c.3146C= (p.Pro1049=) c.*1457C= (n.*1457C=) c.2696C= (p.Pro899=) n.480C= c.3149C= (p.Pro1050=) c.2918C= (n.2918C=) n.499C= c.2993C= (p.Pro998=) c.2309C= (p.Pro770=) n.3171C= n.3888C= | |
| 9 | g.95458032G>T | CA374112286 | PTCH1 | c.2951C>A (p.Pro984His) c.3146C>A (p.Pro1049His) c.*1457C>A (n.*1457C>A) c.2696C>A (p.Pro899His) n.480C>A c.3149C>A (p.Pro1050His) c.2918C>A (n.2918C>A) n.499C>A c.2993C>A (p.Pro998His) c.2309C>A (p.Pro770His) n.3171C>A n.3888C>A | dbSNP |
| 9 | g.95458033G>A | CA374112287 | PTCH1 | c.2950C>T (p.Pro984Ser) c.3145C>T (p.Pro1049Ser) c.*1456C>T (n.*1456C>T) c.2695C>T (p.Pro899Ser) n.479C>T c.3148C>T (p.Pro1050Ser) c.2917C>T (n.2917C>T) n.498C>T c.2992C>T (p.Pro998Ser) c.2308C>T (p.Pro770Ser) n.3170C>T n.3887C>T | COSMIC COSMIC COSMIC COSMIC |
| 9 | g.95458033G>C | CA374112288 | PTCH1 | c.2950C>G (p.Pro984Ala) c.3145C>G (p.Pro1049Ala) c.*1456C>G (n.*1456C>G) c.2695C>G (p.Pro899Ala) n.479C>G c.3148C>G (p.Pro1050Ala) c.2917C>G (n.2917C>G) n.498C>G c.2992C>G (p.Pro998Ala) c.2308C>G (p.Pro770Ala) n.3170C>G n.3887C>G | |
| 9 | g.95458033G>T | CA374112289 | PTCH1 | c.2950C>A (p.Pro984Thr) c.3145C>A (p.Pro1049Thr) c.*1456C>A (n.*1456C>A) c.2695C>A (p.Pro899Thr) n.479C>A c.3148C>A (p.Pro1050Thr) c.2917C>A (n.2917C>A) n.498C>A c.2992C>A (p.Pro998Thr) c.2308C>A (p.Pro770Thr) n.3170C>A n.3887C>A | |
| 9 | g.95458034G>A | CA466351874 | PTCH1 | c.2949C>T (p.Asn983=) c.3144C>T (p.Asn1048=) c.*1455C>T (n.*1455C>T) c.2694C>T (p.Asn898=) n.478C>T c.3147C>T (p.Asn1049=) c.2916C>T (n.2916C>T) n.497C>T c.2991C>T (p.Asn997=) c.2307C>T (p.Asn769=) n.3169C>T n.3886C>T | |
| 9 | g.95458034G>C | CA374112290 | PTCH1 | c.2949C>G (p.Asn983Lys) c.3144C>G (p.Asn1048Lys) c.*1455C>G (n.*1455C>G) c.2694C>G (p.Asn898Lys) n.478C>G c.3147C>G (p.Asn1049Lys) c.2916C>G (n.2916C>G) n.497C>G c.2991C>G (p.Asn997Lys) c.2307C>G (p.Asn769Lys) n.3169C>G n.3886C>G | ClinVar dbSNP |
| 9 | g.95458034G= | CA1865591513 | PTCH1 | c.2949C= (p.Asn983=) c.3144C= (p.Asn1048=) c.*1455C= (n.*1455C=) c.2694C= (p.Asn898=) n.478C= c.3147C= (p.Asn1049=) c.2916C= (n.2916C=) n.497C= c.2991C= (p.Asn997=) c.2307C= (p.Asn769=) n.3169C= n.3886C= | |
| 9 | g.95458034G>T | CA374112291 | PTCH1 | c.2949C>A (p.Asn983Lys) c.3144C>A (p.Asn1048Lys) c.*1455C>A (n.*1455C>A) c.2694C>A (p.Asn898Lys) n.478C>A c.3147C>A (p.Asn1049Lys) c.2916C>A (n.2916C>A) n.497C>A c.2991C>A (p.Asn997Lys) c.2307C>A (p.Asn769Lys) n.3169C>A n.3886C>A | |
| 9 | g.95458035T>A | CA374112292 | PTCH1 | c.2948A>T (p.Asn983Ile) c.3143A>T (p.Asn1048Ile) c.*1454A>T (n.*1454A>T) c.2693A>T (p.Asn898Ile) n.477A>T c.3146A>T (p.Asn1049Ile) c.2915A>T (n.2915A>T) n.496A>T c.2990A>T (p.Asn997Ile) c.2306A>T (p.Asn769Ile) n.3168A>T n.3885A>T | gnomAD v4 |
| 9 | g.95458035T>C | CA374112293 | PTCH1 | c.2948A>G (p.Asn983Ser) c.3143A>G (p.Asn1048Ser) c.*1454A>G (n.*1454A>G) c.2693A>G (p.Asn898Ser) n.477A>G c.3146A>G (p.Asn1049Ser) c.2915A>G (n.2915A>G) n.496A>G c.2990A>G (p.Asn997Ser) c.2306A>G (p.Asn769Ser) n.3168A>G n.3885A>G | gnomAD v4 |
| 9 | g.95458035T>G | CA374112294 | PTCH1 | c.2948A>C (p.Asn983Thr) c.3143A>C (p.Asn1048Thr) c.*1454A>C (n.*1454A>C) c.2693A>C (p.Asn898Thr) n.477A>C c.3146A>C (p.Asn1049Thr) c.2915A>C (n.2915A>C) n.496A>C c.2990A>C (p.Asn997Thr) c.2306A>C (p.Asn769Thr) n.3168A>C n.3885A>C | gnomAD v3 gnomAD v4 |
| 9 | g.95458036T>A | CA374112297 | PTCH1 | c.2947A>T (p.Asn983Tyr) c.3142A>T (p.Asn1048Tyr) c.*1453A>T (n.*1453A>T) c.2692A>T (p.Asn898Tyr) n.476A>T c.3145A>T (p.Asn1049Tyr) c.2914A>T (n.2914A>T) n.495A>T c.2989A>T (p.Asn997Tyr) c.2305A>T (p.Asn769Tyr) n.3167A>T n.3884A>T | |
| 9 | g.95458036T>C | CA374112296 | PTCH1 | c.2947A>G (p.Asn983Asp) c.3142A>G (p.Asn1048Asp) c.*1453A>G (n.*1453A>G) c.2692A>G (p.Asn898Asp) n.476A>G c.3145A>G (p.Asn1049Asp) c.2914A>G (n.2914A>G) n.495A>G c.2989A>G (p.Asn997Asp) c.2305A>G (p.Asn769Asp) n.3167A>G n.3884A>G | |
| 9 | g.95458036T>G | CA374112295 | PTCH1 | c.2947A>C (p.Asn983His) c.3142A>C (p.Asn1048His) c.*1453A>C (n.*1453A>C) c.2692A>C (p.Asn898His) n.476A>C c.3145A>C (p.Asn1049His) c.2914A>C (n.2914A>C) n.495A>C c.2989A>C (p.Asn997His) c.2305A>C (p.Asn769His) n.3167A>C n.3884A>C |