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 |
|---|---|---|---|---|---|
| 16 | g.23602213_23606806dup | CA645372597 | ClinVar | ||
| 16 | g.23603447_23603468delinsCTTTACCCTAACTTATGAATAG | CA2213424234 | PALB2 | c.3558_*12delinsCTATTCATAAGTTAGGGTAAAG (n.[c.3558_*12delinsCTATTCATAAGTTAGGGTAAAG;His1186=]) c.*1037_*1058delinsCTATTCATAAGTTAGGGTAAAG (n.*1037_*1058delinsCTATTCATAAGTTAGGGTAAAG) c.*187_*208delinsCTATTCATAAGTTAGGGTAAAG (n.*187_*208delinsCTATTCATAAGTTAGGGTAAAG) c.3396_*12delinsCTATTCATAAGTTAGGGTAAAG (n.[c.3396_*12delinsCTATTCATAAGTTAGGGTAAAG;His1132=]) c.2667_*12delinsCTATTCATAAGTTAGGGTAAAG (n.[c.2667_*12delinsCTATTCATAAGTTAGGGTAAAG;His889=]) n.4899_4920delinsCTATTCATAAGTTAGGGTAAAG c.2505_*12delinsCTATTCATAAGTTAGGGTAAAG (n.[c.2505_*12delinsCTATTCATAAGTTAGGGTAAAG;His835=]) n.4072_4093delinsCTATTCATAAGTTAGGGTAAAG n.2756_2777delinsCTATTCATAAGTTAGGGTAAAG n.2247_2268delinsCTATTCATAAGTTAGGGTAAAG c.*329_*350delinsCTATTCATAAGTTAGGGTAAAG (n.*329_*350delinsCTATTCATAAGTTAGGGTAAAG) c.1086_*12delinsCTATTCATAAGTTAGGGTAAAG (n.[c.1086_*12delinsCTATTCATAAGTTAGGGTAAAG;His362=]) c.3552_*12delinsCTATTCATAAGTTAGGGTAAAG (n.[c.3552_*12delinsCTATTCATAAGTTAGGGTAAAG;His1184=]) c.318_339delinsCTATTCATAAGTTAGGGTAAAG n.4260_4281delinsCTATTCATAAGTTAGGGTAAAG c.3321_*12delinsCTATTCATAAGTTAGGGTAAAG (n.[c.3321_*12delinsCTATTCATAAGTTAGGGTAAAG;His1107=]) c.3315_*12delinsCTATTCATAAGTTAGGGTAAAG (n.[c.3315_*12delinsCTATTCATAAGTTAGGGTAAAG;His1105=]) | |
| 16 | g.23603449_23603469del | CA1139664608 | PALB2 | c.3558_*11del (n.[c.3558_*11del;His1186GlnfsTer2]) c.*1037_*1057del (n.*1037_*1057del) c.*187_*207del (n.*187_*207del) c.3396_*11del (n.[c.3396_*11del;His1132GlnfsTer2]) c.2667_*11del (n.[c.2667_*11del;His889GlnfsTer2]) n.4899_4919del c.2505_*11del (n.[c.2505_*11del;His835GlnfsTer2]) n.4072_4092del n.2756_2776del n.2247_2267del c.*329_*349del (n.*329_*349del) c.1086_*11del (n.[c.1086_*11del;His362GlnfsTer2]) c.3552_*11del (n.[c.3552_*11del;His1184GlnfsTer2]) c.318_338del n.4260_4280del c.3321_*11del (n.[c.3321_*11del;His1107GlnfsTer2]) c.3315_*11del (n.[c.3315_*11del;His1105GlnfsTer2]) | ClinVar dbSNP |
| 16 | g.23603459_23603669del | CA2581463456 | PALB2 | c.3360_*3del (n.[c.3360_*3del;Phe1120LeufsTer3]) c.*839_*1049del (n.*839_*1049del) c.3205_*199del (n.[c.3205_*199del;Pro1069ArgfsTer4]) c.3198_*3del (n.[c.3198_*3del;Phe1066LeufsTer3]) c.2469_*3del (n.[c.2469_*3del;Phe823LeufsTer3]) n.4701_4911del c.2320_*199del (n.[c.2320_*199del;Pro774ArgfsTer4]) c.2307_*3del (n.[c.2307_*3del;Phe769LeufsTer3]) n.3874_4084del n.2558_2768del n.2049_2259del c.*131_*341del (n.*131_*341del) c.888_*3del (n.[c.888_*3del;Phe296LeufsTer3]) c.3354_*3del (n.[c.3354_*3del;Phe1118LeufsTer3]) c.120_330del c.3211_*199del (n.[c.3211_*199del;Pro1071ArgfsTer4]) n.4062_4272del c.3123_*3del (n.[c.3123_*3del;Phe1041LeufsTer3]) c.3117_*3del (n.[c.3117_*3del;Phe1039LeufsTer3]) | |
| 16 | g.23603457_23603819del | CA2499223396 | PALB2 | c.3357-150_*2del c.*836-150_*1048del c.3202-150_*198del c.3195-150_*2del c.2466-150_*2del n.4698-150_4910del c.2317-150_*198del c.2304-150_*2del n.3871-150_4083del n.2555-150_2767del n.2046-150_2258del c.*128-150_*340del c.885-150_*2del c.3351-150_*2del c.117-150_329del c.3208-150_*198del n.4059-150_4271del c.3120-150_*2del c.3114-150_*2del | ClinVar dbSNP |
| 16 | g.23603460_23608014del | CA2581463450 | PALB2 | c.3208_*1del c.*683_*1047del c.3202-4343_*197del c.3046_*1del c.2317_*1del n.4549_4909del c.2317-4343_*197del c.2155_*1del n.3722_4082del n.2406_2766del n.1897_2257del c.2229_*339del c.736_*1del c.3202_*1del c.117-4343_328del c.3208-4343_*197del n.3910_4270del c.3120-4343_*1del c.3114-4343_*1del | |
| 16 | g.23603460T>A | CA395137571 | PALB2 | c.3566A>T (p.Ter1189Leu) c.*1045A>T (n.*1045A>T) c.*195A>T (n.*195A>T) c.3404A>T (p.Ter1135Leu) c.2675A>T (p.Ter892Leu) n.4907A>T c.2513A>T (p.Ter838Leu) n.4080A>T n.2764A>T n.2255A>T c.*337A>T (n.*337A>T) c.1094A>T (p.Ter365Leu) c.3560A>T (p.Ter1187Leu) c.326A>T n.4268A>T c.3329A>T (p.Ter1110Leu) c.3323A>T (p.Ter1108Leu) | |
| 16 | g.23603460T>C | CA494173475 | PALB2 | c.3566A>G (p.Ter1189=) c.*1045A>G (n.*1045A>G) c.*195A>G (n.*195A>G) c.3404A>G (p.Ter1135=) c.2675A>G (p.Ter892=) n.4907A>G c.2513A>G (p.Ter838=) n.4080A>G n.2764A>G n.2255A>G c.*337A>G (n.*337A>G) c.1094A>G (p.Ter365=) c.3560A>G (p.Ter1187=) c.326A>G n.4268A>G c.3329A>G (p.Ter1110=) c.3323A>G (p.Ter1108=) | |
| 16 | g.23603460T>G | CA395137575 | PALB2 | c.3566A>C (p.Ter1189Ser) c.*1045A>C (n.*1045A>C) c.*195A>C (n.*195A>C) c.3404A>C (p.Ter1135Ser) c.2675A>C (p.Ter892Ser) n.4907A>C c.2513A>C (p.Ter838Ser) n.4080A>C n.2764A>C n.2255A>C c.*337A>C (n.*337A>C) c.1094A>C (p.Ter365Ser) c.3560A>C (p.Ter1187Ser) c.326A>C n.4268A>C c.3329A>C (p.Ter1110Ser) c.3323A>C (p.Ter1108Ser) | |
| 16 | g.23603461A= | CA2213424245 | PALB2 | c.3565T= (p.Ter1189=) c.*1044T= (n.*1044T=) c.*194T= (n.*194T=) c.3403T= (p.Ter1135=) c.2674T= (p.Ter892=) n.4906T= c.2512T= (p.Ter838=) n.4079T= n.2763T= n.2254T= c.*336T= (n.*336T=) c.1093T= (p.Ter365=) c.3559T= (p.Ter1187=) c.325T= n.4267T= c.3328T= (p.Ter1110=) c.3322T= (p.Ter1108=) | |
| 16 | g.23603461A>C | CA395137579 | PALB2 | c.3565T>G (p.Ter1189Glu) c.*1044T>G (n.*1044T>G) c.*194T>G (n.*194T>G) c.3403T>G (p.Ter1135Glu) c.2674T>G (p.Ter892Glu) n.4906T>G c.2512T>G (p.Ter838Glu) n.4079T>G n.2763T>G n.2254T>G c.*336T>G (n.*336T>G) c.1093T>G (p.Ter365Glu) c.3559T>G (p.Ter1187Glu) c.325T>G n.4267T>G c.3328T>G (p.Ter1110Glu) c.3322T>G (p.Ter1108Glu) | |
| 16 | g.23603461A>G | CA395137583 | PALB2 | c.3565T>C (p.Ter1189Gln) c.*1044T>C (n.*1044T>C) c.*194T>C (n.*194T>C) c.3403T>C (p.Ter1135Gln) c.2674T>C (p.Ter892Gln) n.4906T>C c.2512T>C (p.Ter838Gln) n.4079T>C n.2763T>C n.2254T>C c.*336T>C (n.*336T>C) c.1093T>C (p.Ter365Gln) c.3559T>C (p.Ter1187Gln) c.325T>C n.4267T>C c.3328T>C (p.Ter1110Gln) c.3322T>C (p.Ter1108Gln) | ClinVar dbSNP |
| 16 | g.23603461A>T | CA395137581 | PALB2 | c.3565T>A (p.Ter1189Lys) c.*1044T>A (n.*1044T>A) c.*194T>A (n.*194T>A) c.3403T>A (p.Ter1135Lys) c.2674T>A (p.Ter892Lys) n.4906T>A c.2512T>A (p.Ter838Lys) n.4079T>A n.2763T>A n.2254T>A c.*336T>A (n.*336T>A) c.1093T>A (p.Ter365Lys) c.3559T>A (p.Ter1187Lys) c.325T>A n.4267T>A c.3328T>A (p.Ter1110Lys) c.3322T>A (p.Ter1108Lys) | |
| 16 | g.23603461dup | CA2632324008 | PALB2 | c.3565dup (p.Ter1189LeuextTer3) c.*1044dup (n.*1044dup) c.*194dup (n.*194dup) c.3403dup (p.Ter1135LeuextTer3) c.2674dup (p.Ter892LeuextTer3) n.4906dup c.2512dup (p.Ter838LeuextTer3) n.4079dup n.2763dup n.2254dup c.*336dup (n.*336dup) c.1093dup (p.Ter365LeuextTer3) c.3559dup (p.Ter1187LeuextTer3) c.325dup n.4267dup c.3328dup (p.Ter1110LeuextTer3) c.3322dup (p.Ter1108LeuextTer3) | gnomAD v4 |
| 16 | g.23603462T>A | CA494173481 | PALB2 | c.3564A>T (p.Ser1188=) c.*1043A>T (n.*1043A>T) c.*193A>T (n.*193A>T) c.3402A>T (p.Ser1134=) c.2673A>T (p.Ser891=) n.4905A>T c.2511A>T (p.Ser837=) n.4078A>T n.2762A>T n.2253A>T c.*335A>T (n.*335A>T) c.1092A>T (p.Ser364=) c.3558A>T (p.Ser1186=) c.324A>T n.4266A>T c.3327A>T (p.Ser1109=) c.3321A>T (p.Ser1107=) | |
| 16 | g.23603462T>C | CA494173482 | PALB2 | c.3564A>G (p.Ser1188=) c.*1043A>G (n.*1043A>G) c.*193A>G (n.*193A>G) c.3402A>G (p.Ser1134=) c.2673A>G (p.Ser891=) n.4905A>G c.2511A>G (p.Ser837=) n.4078A>G n.2762A>G n.2253A>G c.*335A>G (n.*335A>G) c.1092A>G (p.Ser364=) c.3558A>G (p.Ser1186=) c.324A>G n.4266A>G c.3327A>G (p.Ser1109=) c.3321A>G (p.Ser1107=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.23603462T>G | CA494173483 | PALB2 | c.3564A>C (p.Ser1188=) c.*1043A>C (n.*1043A>C) c.*193A>C (n.*193A>C) c.3402A>C (p.Ser1134=) c.2673A>C (p.Ser891=) n.4905A>C c.2511A>C (p.Ser837=) n.4078A>C n.2762A>C n.2253A>C c.*335A>C (n.*335A>C) c.1092A>C (p.Ser364=) c.3558A>C (p.Ser1186=) c.324A>C n.4266A>C c.3327A>C (p.Ser1109=) c.3321A>C (p.Ser1107=) | |
| 16 | g.23603462T= | CA2213424247 | PALB2 | c.3564A= (p.Ser1188=) c.*1043A= (n.*1043A=) c.*193A= (n.*193A=) c.3402A= (p.Ser1134=) c.2673A= (p.Ser891=) n.4905A= c.2511A= (p.Ser837=) n.4078A= n.2762A= n.2253A= c.*335A= (n.*335A=) c.1092A= (p.Ser364=) c.3558A= (p.Ser1186=) c.324A= n.4266A= c.3327A= (p.Ser1109=) c.3321A= (p.Ser1107=) | |
| 16 | g.23603463G>A | CA395137585 | PALB2 | c.3563C>T (p.Ser1188Leu) c.*1042C>T (n.*1042C>T) c.*192C>T (n.*192C>T) c.3401C>T (p.Ser1134Leu) c.2672C>T (p.Ser891Leu) n.4904C>T c.2510C>T (p.Ser837Leu) n.4077C>T n.2761C>T n.2252C>T c.*334C>T (n.*334C>T) c.1091C>T (p.Ser364Leu) c.3557C>T (p.Ser1186Leu) c.323C>T n.4265C>T c.3326C>T (p.Ser1109Leu) c.3320C>T (p.Ser1107Leu) | dbSNP |
| 16 | g.23603463G>C | CA395137593 | PALB2 | c.3563C>G (p.Ser1188Ter) c.*1042C>G (n.*1042C>G) c.*192C>G (n.*192C>G) c.3401C>G (p.Ser1134Ter) c.2672C>G (p.Ser891Ter) n.4904C>G c.2510C>G (p.Ser837Ter) n.4077C>G n.2761C>G n.2252C>G c.*334C>G (n.*334C>G) c.1091C>G (p.Ser364Ter) c.3557C>G (p.Ser1186Ter) c.323C>G n.4265C>G c.3326C>G (p.Ser1109Ter) c.3320C>G (p.Ser1107Ter) | ClinVar dbSNP |
| 16 | g.23603463G>T | CA395137591 | PALB2 | c.3563C>A (p.Ser1188Ter) c.*1042C>A (n.*1042C>A) c.*192C>A (n.*192C>A) c.3401C>A (p.Ser1134Ter) c.2672C>A (p.Ser891Ter) n.4904C>A c.2510C>A (p.Ser837Ter) n.4077C>A n.2761C>A n.2252C>A c.*334C>A (n.*334C>A) c.1091C>A (p.Ser364Ter) c.3557C>A (p.Ser1186Ter) c.323C>A n.4265C>A c.3326C>A (p.Ser1109Ter) c.3320C>A (p.Ser1107Ter) | |
| 16 | g.23603464A>C | CA395137595 | PALB2 | c.3562T>G (p.Ser1188Ala) c.*1041T>G (n.*1041T>G) c.*191T>G (n.*191T>G) c.3400T>G (p.Ser1134Ala) c.2671T>G (p.Ser891Ala) n.4903T>G c.2509T>G (p.Ser837Ala) n.4076T>G n.2760T>G n.2251T>G c.*333T>G (n.*333T>G) c.1090T>G (p.Ser364Ala) c.3556T>G (p.Ser1186Ala) c.322T>G n.4264T>G c.3325T>G (p.Ser1109Ala) c.3319T>G (p.Ser1107Ala) | |
| 16 | g.23603464A>G | CA395137600 | PALB2 | c.3562T>C (p.Ser1188Pro) c.*1041T>C (n.*1041T>C) c.*191T>C (n.*191T>C) c.3400T>C (p.Ser1134Pro) c.2671T>C (p.Ser891Pro) n.4903T>C c.2509T>C (p.Ser837Pro) n.4076T>C n.2760T>C n.2251T>C c.*333T>C (n.*333T>C) c.1090T>C (p.Ser364Pro) c.3556T>C (p.Ser1186Pro) c.322T>C n.4264T>C c.3325T>C (p.Ser1109Pro) c.3319T>C (p.Ser1107Pro) | |
| 16 | g.23603464A>T | CA395137597 | PALB2 | c.3562T>A (p.Ser1188Thr) c.*1041T>A (n.*1041T>A) c.*191T>A (n.*191T>A) c.3400T>A (p.Ser1134Thr) c.2671T>A (p.Ser891Thr) n.4903T>A c.2509T>A (p.Ser837Thr) n.4076T>A n.2760T>A n.2251T>A c.*333T>A (n.*333T>A) c.1090T>A (p.Ser364Thr) c.3556T>A (p.Ser1186Thr) c.322T>A n.4264T>A c.3325T>A (p.Ser1109Thr) c.3319T>A (p.Ser1107Thr) | dbSNP |
| 16 | g.23603465_23603473dup | CA2580091229 | PALB2 | c.3554_3562dup (p.Tyr1187_Ser1188insTyrHisTyr) c.*1033_*1041dup (n.*1033_*1041dup) c.*183_*191dup (n.*183_*191dup) c.3392_3400dup (p.Tyr1133_Ser1134insTyrHisTyr) c.2663_2671dup (p.Tyr890_Ser891insTyrHisTyr) n.4895_4903dup c.2501_2509dup (p.Tyr836_Ser837insTyrHisTyr) n.4068_4076dup n.2752_2760dup n.2243_2251dup c.*325_*333dup (n.*325_*333dup) c.1082_1090dup (p.Tyr363_Ser364insTyrHisTyr) c.3548_3556dup (p.Tyr1185_Ser1186insTyrHisTyr) c.314_322dup n.4256_4264dup c.3317_3325dup (p.Tyr1108_Ser1109insTyrHisTyr) c.3311_3319dup (p.Tyr1106_Ser1107insTyrHisTyr) | ClinVar |
| 16 | g.23603465A>C | CA395137602 | PALB2 | c.3561T>G (p.Tyr1187Ter) c.*1040T>G (n.*1040T>G) c.*190T>G (n.*190T>G) c.3399T>G (p.Tyr1133Ter) c.2670T>G (p.Tyr890Ter) n.4902T>G c.2508T>G (p.Tyr836Ter) n.4075T>G n.2759T>G n.2250T>G c.*332T>G (n.*332T>G) c.1089T>G (p.Tyr363Ter) c.3555T>G (p.Tyr1185Ter) c.321T>G n.4263T>G c.3324T>G (p.Tyr1108Ter) c.3318T>G (p.Tyr1106Ter) | |
| 16 | g.23603465A>G | CA494173486 | PALB2 | c.3561T>C (p.Tyr1187=) c.*1040T>C (n.*1040T>C) c.*190T>C (n.*190T>C) c.3399T>C (p.Tyr1133=) c.2670T>C (p.Tyr890=) n.4902T>C c.2508T>C (p.Tyr836=) n.4075T>C n.2759T>C n.2250T>C c.*332T>C (n.*332T>C) c.1089T>C (p.Tyr363=) c.3555T>C (p.Tyr1185=) c.321T>C n.4263T>C c.3324T>C (p.Tyr1108=) c.3318T>C (p.Tyr1106=) | ClinVar |
| 16 | g.23603465A>T | CA395137604 | PALB2 | c.3561T>A (p.Tyr1187Ter) c.*1040T>A (n.*1040T>A) c.*190T>A (n.*190T>A) c.3399T>A (p.Tyr1133Ter) c.2670T>A (p.Tyr890Ter) n.4902T>A c.2508T>A (p.Tyr836Ter) n.4075T>A n.2759T>A n.2250T>A c.*332T>A (n.*332T>A) c.1089T>A (p.Tyr363Ter) c.3555T>A (p.Tyr1185Ter) c.321T>A n.4263T>A c.3324T>A (p.Tyr1108Ter) c.3318T>A (p.Tyr1106Ter) | dbSNP |
| 16 | g.23603466T>A | CA395137606 | PALB2 | c.3560A>T (p.Tyr1187Phe) c.*1039A>T (n.*1039A>T) c.*189A>T (n.*189A>T) c.3398A>T (p.Tyr1133Phe) c.2669A>T (p.Tyr890Phe) n.4901A>T c.2507A>T (p.Tyr836Phe) n.4074A>T n.2758A>T n.2249A>T c.*331A>T (n.*331A>T) c.1088A>T (p.Tyr363Phe) c.3554A>T (p.Tyr1185Phe) c.320A>T n.4262A>T c.3323A>T (p.Tyr1108Phe) c.3317A>T (p.Tyr1106Phe) | dbSNP |
| 16 | g.23603466T>C | CA395137610 | PALB2 | c.3560A>G (p.Tyr1187Cys) c.*1039A>G (n.*1039A>G) c.*189A>G (n.*189A>G) c.3398A>G (p.Tyr1133Cys) c.2669A>G (p.Tyr890Cys) n.4901A>G c.2507A>G (p.Tyr836Cys) n.4074A>G n.2758A>G n.2249A>G c.*331A>G (n.*331A>G) c.1088A>G (p.Tyr363Cys) c.3554A>G (p.Tyr1185Cys) c.320A>G n.4262A>G c.3323A>G (p.Tyr1108Cys) c.3317A>G (p.Tyr1106Cys) | |
| 16 | g.23603466T>G | CA395137613 | PALB2 | c.3560A>C (p.Tyr1187Ser) c.*1039A>C (n.*1039A>C) c.*189A>C (n.*189A>C) c.3398A>C (p.Tyr1133Ser) c.2669A>C (p.Tyr890Ser) n.4901A>C c.2507A>C (p.Tyr836Ser) n.4074A>C n.2758A>C n.2249A>C c.*331A>C (n.*331A>C) c.1088A>C (p.Tyr363Ser) c.3554A>C (p.Tyr1185Ser) c.320A>C n.4262A>C c.3323A>C (p.Tyr1108Ser) c.3317A>C (p.Tyr1106Ser) | |
| 16 | g.23603467A= | CA2213424249 | PALB2 | c.3559T= (p.Tyr1187=) c.*1038T= (n.*1038T=) c.*188T= (n.*188T=) c.3397T= (p.Tyr1133=) c.2668T= (p.Tyr890=) n.4900T= c.2506T= (p.Tyr836=) n.4073T= n.2757T= n.2248T= c.*330T= (n.*330T=) c.1087T= (p.Tyr363=) c.3553T= (p.Tyr1185=) c.319T= n.4261T= c.3322T= (p.Tyr1108=) c.3316T= (p.Tyr1106=) | |
| 16 | g.23603467A>C | CA395137616 | PALB2 | c.3559T>G (p.Tyr1187Asp) c.*1038T>G (n.*1038T>G) c.*188T>G (n.*188T>G) c.3397T>G (p.Tyr1133Asp) c.2668T>G (p.Tyr890Asp) n.4900T>G c.2506T>G (p.Tyr836Asp) n.4073T>G n.2757T>G n.2248T>G c.*330T>G (n.*330T>G) c.1087T>G (p.Tyr363Asp) c.3553T>G (p.Tyr1185Asp) c.319T>G n.4261T>G c.3322T>G (p.Tyr1108Asp) c.3316T>G (p.Tyr1106Asp) | ClinVar dbSNP gnomAD v4 |
| 16 | g.23603467A>G | CA10583348 | PALB2 | c.3559T>C (p.Tyr1187His) c.*1038T>C (n.*1038T>C) c.*188T>C (n.*188T>C) c.3397T>C (p.Tyr1133His) c.2668T>C (p.Tyr890His) n.4900T>C c.2506T>C (p.Tyr836His) n.4073T>C n.2757T>C n.2248T>C c.*330T>C (n.*330T>C) c.1087T>C (p.Tyr363His) c.3553T>C (p.Tyr1185His) c.319T>C n.4261T>C c.3322T>C (p.Tyr1108His) c.3316T>C (p.Tyr1106His) | ClinVar dbSNP gnomAD v4 |
| 16 | g.23603467A>T | CA395137626 | PALB2 | c.3559T>A (p.Tyr1187Asn) c.*1038T>A (n.*1038T>A) c.*188T>A (n.*188T>A) c.3397T>A (p.Tyr1133Asn) c.2668T>A (p.Tyr890Asn) n.4900T>A c.2506T>A (p.Tyr836Asn) n.4073T>A n.2757T>A n.2248T>A c.*330T>A (n.*330T>A) c.1087T>A (p.Tyr363Asn) c.3553T>A (p.Tyr1185Asn) c.319T>A n.4261T>A c.3322T>A (p.Tyr1108Asn) c.3316T>A (p.Tyr1106Asn) | dbSNP |
| 16 | g.23603468G>A | CA494173488 | PALB2 | c.3558C>T (p.His1186=) c.*1037C>T (n.*1037C>T) c.*187C>T (n.*187C>T) c.3396C>T (p.His1132=) c.2667C>T (p.His889=) n.4899C>T c.2505C>T (p.His835=) n.4072C>T n.2756C>T n.2247C>T c.*329C>T (n.*329C>T) c.1086C>T (p.His362=) c.3552C>T (p.His1184=) c.318C>T n.4260C>T c.3321C>T (p.His1107=) c.3315C>T (p.His1105=) | dbSNP |
| 16 | g.23603468G>C | CA395137630 | PALB2 | c.3558C>G (p.His1186Gln) c.*1037C>G (n.*1037C>G) c.*187C>G (n.*187C>G) c.3396C>G (p.His1132Gln) c.2667C>G (p.His889Gln) n.4899C>G c.2505C>G (p.His835Gln) n.4072C>G n.2756C>G n.2247C>G c.*329C>G (n.*329C>G) c.1086C>G (p.His362Gln) c.3552C>G (p.His1184Gln) c.318C>G n.4260C>G c.3321C>G (p.His1107Gln) c.3315C>G (p.His1105Gln) | ClinVar dbSNP |
| 16 | g.23603468G= | CA2213424254 | PALB2 | c.3558C= (p.His1186=) c.*1037C= (n.*1037C=) c.*187C= (n.*187C=) c.3396C= (p.His1132=) c.2667C= (p.His889=) n.4899C= c.2505C= (p.His835=) n.4072C= n.2756C= n.2247C= c.*329C= (n.*329C=) c.1086C= (p.His362=) c.3552C= (p.His1184=) c.318C= n.4260C= c.3321C= (p.His1107=) c.3315C= (p.His1105=) | |
| 16 | g.23603468G>T | CA395137631 | PALB2 | c.3558C>A (p.His1186Gln) c.*1037C>A (n.*1037C>A) c.*187C>A (n.*187C>A) c.3396C>A (p.His1132Gln) c.2667C>A (p.His889Gln) n.4899C>A c.2505C>A (p.His835Gln) n.4072C>A n.2756C>A n.2247C>A c.*329C>A (n.*329C>A) c.1086C>A (p.His362Gln) c.3552C>A (p.His1184Gln) c.318C>A n.4260C>A c.3321C>A (p.His1107Gln) c.3315C>A (p.His1105Gln) | dbSNP |
| 16 | g.23603468_23603469delinsGT | CA2213424253 | PALB2 | c.3557_3558delinsAC (p.His1186=) c.*1036_*1037delinsAC (n.*1036_*1037delinsAC) c.*186_*187delinsAC (n.*186_*187delinsAC) c.3395_3396delinsAC (p.His1132=) c.2666_2667delinsAC (p.His889=) n.4898_4899delinsAC c.2504_2505delinsAC (p.His835=) n.4071_4072delinsAC n.2755_2756delinsAC n.2246_2247delinsAC c.*328_*329delinsAC (n.*328_*329delinsAC) c.1085_1086delinsAC (p.His362=) c.3551_3552delinsAC (p.His1184=) c.317_318delinsAC n.4259_4260delinsAC c.3320_3321delinsAC (p.His1107=) c.3314_3315delinsAC (p.His1105=) | |
| 16 | g.23603468_23603471delinsCAAA | CA2695222895 | PALB2 | c.3555_3558delinsTTTG (p.His1186Leu) c.*1034_*1037delinsTTTG (n.*1034_*1037delinsTTTG) c.*184_*187delinsTTTG (n.*184_*187delinsTTTG) c.3393_3396delinsTTTG (p.His1132Leu) c.2664_2667delinsTTTG (p.His889Leu) n.4896_4899delinsTTTG c.2502_2505delinsTTTG (p.His835Leu) n.4069_4072delinsTTTG n.2753_2756delinsTTTG n.2244_2247delinsTTTG c.*326_*329delinsTTTG (n.*326_*329delinsTTTG) c.1083_1086delinsTTTG (p.His362Leu) c.3549_3552delinsTTTG (p.His1184Leu) c.315_318delinsTTTG n.4257_4260delinsTTTG c.3318_3321delinsTTTG (p.His1107Leu) c.3312_3315delinsTTTG (p.His1105Leu) | |
| 16 | g.23603469del | CA915949153 | PALB2 | c.3557del (p.His1186ProfsTer7) c.*1036del (n.*1036del) c.*186del (n.*186del) c.3395del (p.His1132ProfsTer7) c.2666del (p.His889ProfsTer7) n.4898del c.2504del (p.His835ProfsTer7) n.4071del n.2755del n.2246del c.*328del (n.*328del) c.1085del (p.His362ProfsTer7) c.3551del (p.His1184ProfsTer7) c.317del n.4259del c.3320del (p.His1107ProfsTer7) c.3314del (p.His1105ProfsTer7) | ClinVar dbSNP gnomAD v4 |
| 16 | g.23603469T>A | CA395137639 | PALB2 | c.3557A>T (p.His1186Leu) c.*1036A>T (n.*1036A>T) c.*186A>T (n.*186A>T) c.3395A>T (p.His1132Leu) c.2666A>T (p.His889Leu) n.4898A>T c.2504A>T (p.His835Leu) n.4071A>T n.2755A>T n.2246A>T c.*328A>T (n.*328A>T) c.1085A>T (p.His362Leu) c.3551A>T (p.His1184Leu) c.317A>T n.4259A>T c.3320A>T (p.His1107Leu) c.3314A>T (p.His1105Leu) | |
| 16 | g.23603469T>C | CA395137637 | PALB2 | c.3557A>G (p.His1186Arg) c.*1036A>G (n.*1036A>G) c.*186A>G (n.*186A>G) c.3395A>G (p.His1132Arg) c.2666A>G (p.His889Arg) n.4898A>G c.2504A>G (p.His835Arg) n.4071A>G n.2755A>G n.2246A>G c.*328A>G (n.*328A>G) c.1085A>G (p.His362Arg) c.3551A>G (p.His1184Arg) c.317A>G n.4259A>G c.3320A>G (p.His1107Arg) c.3314A>G (p.His1105Arg) | |
| 16 | g.23603469T>G | CA395137634 | PALB2 | c.3557A>C (p.His1186Pro) c.*1036A>C (n.*1036A>C) c.*186A>C (n.*186A>C) c.3395A>C (p.His1132Pro) c.2666A>C (p.His889Pro) n.4898A>C c.2504A>C (p.His835Pro) n.4071A>C n.2755A>C n.2246A>C c.*328A>C (n.*328A>C) c.1085A>C (p.His362Pro) c.3551A>C (p.His1184Pro) c.317A>C n.4259A>C c.3320A>C (p.His1107Pro) c.3314A>C (p.His1105Pro) | |
| 16 | g.23603470G>A | CA7963326 | PALB2 | c.3556C>T (p.His1186Tyr) c.*1035C>T (n.*1035C>T) c.*185C>T (n.*185C>T) c.3394C>T (p.His1132Tyr) c.2665C>T (p.His889Tyr) n.4897C>T c.2503C>T (p.His835Tyr) n.4070C>T n.2754C>T n.2245C>T c.*327C>T (n.*327C>T) c.1084C>T (p.His362Tyr) c.3550C>T (p.His1184Tyr) c.316C>T n.4258C>T c.3319C>T (p.His1107Tyr) c.3313C>T (p.His1105Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.23603470G>C | CA395137643 | PALB2 | c.3556C>G (p.His1186Asp) c.*1035C>G (n.*1035C>G) c.*185C>G (n.*185C>G) c.3394C>G (p.His1132Asp) c.2665C>G (p.His889Asp) n.4897C>G c.2503C>G (p.His835Asp) n.4070C>G n.2754C>G n.2245C>G c.*327C>G (n.*327C>G) c.1084C>G (p.His362Asp) c.3550C>G (p.His1184Asp) c.316C>G n.4258C>G c.3319C>G (p.His1107Asp) c.3313C>G (p.His1105Asp) | |
| 16 | g.23603470G= | CA2213424257 | PALB2 | c.3556C= (p.His1186=) c.*1035C= (n.*1035C=) c.*185C= (n.*185C=) c.3394C= (p.His1132=) c.2665C= (p.His889=) n.4897C= c.2503C= (p.His835=) n.4070C= n.2754C= n.2245C= c.*327C= (n.*327C=) c.1084C= (p.His362=) c.3550C= (p.His1184=) c.316C= n.4258C= c.3319C= (p.His1107=) c.3313C= (p.His1105=) | |
| 16 | g.23603470G>T | CA395137646 | PALB2 | c.3556C>A (p.His1186Asn) c.*1035C>A (n.*1035C>A) c.*185C>A (n.*185C>A) c.3394C>A (p.His1132Asn) c.2665C>A (p.His889Asn) n.4897C>A c.2503C>A (p.His835Asn) n.4070C>A n.2754C>A n.2245C>A c.*327C>A (n.*327C>A) c.1084C>A (p.His362Asn) c.3550C>A (p.His1184Asn) c.316C>A n.4258C>A c.3319C>A (p.His1107Asn) c.3313C>A (p.His1105Asn) | dbSNP COSMIC |
| 16 | g.23603471G>A | CA494173490 | PALB2 | c.3555C>T (p.Tyr1185=) c.*1034C>T (n.*1034C>T) c.*184C>T (n.*184C>T) c.3393C>T (p.Tyr1131=) c.2664C>T (p.Tyr888=) n.4896C>T c.2502C>T (p.Tyr834=) n.4069C>T n.2753C>T n.2244C>T c.*326C>T (n.*326C>T) c.1083C>T (p.Tyr361=) c.3549C>T (p.Tyr1183=) c.315C>T n.4257C>T c.3318C>T (p.Tyr1106=) c.3312C>T (p.Tyr1104=) | ClinVar dbSNP |