19-11200176-C-T |
c.-49C>T |
- |
5-UTRSNV |
1/18 |
- |
1 |
19-11200189-T-G |
c.-36T>G |
- |
5-UTRSNV |
1/18 |
- |
2 |
19-11200202-A-C |
c.-23A>C |
- |
5-UTRSNV |
1/18 |
- |
1 |
19-11200212-A-G |
c.-13A>G |
- |
5-UTRSNV |
1/18 |
- |
1 |
19-11200225-A-T |
c.1A>T |
p.Met1? |
Missense |
1/18 |
- |
1 |
19-11200228-G-C |
c.4G>C |
p.Gly2Arg |
Missense |
1/18 |
- |
1 |
19-11200235-G-A |
c.11G>A |
p.Trp4* |
Nonsense |
1/18 |
- |
1 |
19-11200252-T-A |
c.28T>A |
p.Trp10Arg |
Missense |
1/18 |
- |
1 |
19-11200262-C-G |
c.38C>G |
p.Ala13Gly |
Missense |
1/18 |
- |
1 |
19-11200279-GCG-TGT |
c.55_57delinsTGT |
p.Ala19Cys |
Missense |
1/18 |
- |
1 |
19-11200282-G-A |
c.58G>A |
p.Gly20Arg |
Missense |
1/18 |
- |
6 |
19-11200288-GCA-TTT |
c.64_66delinsTTT |
p.Ala22Phe |
Missense |
1/18 |
- |
1 |
19-11200412-C-T |
c.67+121C>T |
- |
IntronicSNV |
- |
1/17 |
2 |
19-11200412-C-G |
c.67+121C>G |
- |
IntronicSNV |
- |
1/17 |
2 |
19-11200806-C-T |
c.67+515C>T |
- |
IntronicSNV |
- |
1/17 |
1 |
19-11201124-T-C |
c.67+833T>C |
- |
IntronicSNV |
- |
1/17 |
4 |
19-11201129-C-CG |
c.67+838_67+839insG |
- |
IntronicInsertion |
- |
1/17 |
1 |
19-11201366-G-A |
c.67+1075G>A |
- |
IntronicSNV |
- |
1/17 |
1 |
19-11202306-G-T |
c.67+2015G>T |
- |
IntronicSNV |
- |
1/17 |
138 |
19-11202460-T-A |
c.67+2169T>A |
- |
IntronicSNV |
- |
1/17 |
2 |
19-11205975-G-A |
c.68-4924G>A |
- |
IntronicSNV |
- |
1/17 |
1 |
19-11205975-G-C |
c.68-4924G>C |
- |
IntronicSNV |
- |
1/17 |
1 |
19-11206040-C-T |
c.68-4859C>T |
- |
IntronicSNV |
- |
1/17 |
4 |
19-11206530-T-A |
c.68-4369T>A |
- |
IntronicSNV |
- |
1/17 |
1 |
19-11206530-T-C |
c.68-4369T>C |
- |
IntronicSNV |
- |
1/17 |
1 |
19-11206575-G-A |
c.68-4324G>A |
- |
IntronicSNV |
- |
1/17 |
2 |
19-11206861-G-A |
c.68-4038G>A |
- |
IntronicSNV |
- |
1/17 |
1 |
19-11207982-T-C |
c.68-2917T>C |
- |
IntronicSNV |
- |
1/17 |
1 |
19-11210157-C-T |
c.68-742C>T |
- |
IntronicSNV |
- |
1/17 |
1 |
19-11210899-TG-AC |
c.68_69delinsAC |
p.Val23Asp |
Missense |
2/18 |
- |
1 |
19-11210899-T-A |
c.68T>A |
p.Val23Glu |
Missense |
2/18 |
- |
1 |
19-11210904-GAC-AAG |
c.73_75delinsAAG |
p.Asp25Lys |
Missense |
2/18 |
- |
1 |
19-11210905-A-C |
c.74A>C |
p.Asp25Ala |
Missense |
2/18 |
- |
1 |
19-11210912-C-G |
c.81C>G |
p.Cys27Trp |
Missense |
2/18 |
- |
43 |
19-11210912-C-A |
c.81C>A |
p.Cys27* |
Nonsense |
2/18 |
- |
42 |
19-11210912-C-T |
c.81C>T |
p.Cys27Cys |
Synonymous |
2/18 |
- |
48 |
19-11210921-C-T |
c.90C>T |
p.Asn30Asn |
Synonymous |
2/18 |
- |
3 |
19-11210921-C-G |
c.90C>G |
p.Asn30Lys |
Missense |
2/18 |
- |
2 |
19-11210926-T-C |
c.95T>C |
p.Phe32Ser |
Missense |
2/18 |
- |
1 |
19-11210928-C-T |
c.97C>T |
p.Gln33* |
Nonsense |
2/18 |
- |
3 |
19-11210931-T-G |
c.100T>G |
p.Cys34Gly |
Missense |
2/18 |
- |
3 |
19-11210933-C-A |
c.102C>A |
p.Cys34* |
Nonsense |
2/18 |
- |
1 |
19-11210943-A-T |
c.112A>T |
p.Lys38* |
Nonsense |
2/18 |
- |
1 |
19-11210945-A-AAATT |
c.114_115insAATT |
p.Cys39Asnfs*14 |
Frameshift |
2/18 |
- |
1 |
19-11210947-GC-AA |
c.116_117delinsAA |
p.Cys39* |
Missense |
2/18 |
- |
1 |
19-11210952-CTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCA-C |
c.121_179del |
p.Ser41Glyfs*69 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
2/18 |
- |
1 |
19-11210960-G-C |
c.129G>C |
p.Lys43Asn |
Missense |
2/18 |
- |
2 |
19-11210962-G-A |
c.131G>A |
p.Trp44* |
Nonsense |
2/18 |
- |
3 |
19-11210967-T-G |
c.136T>G |
p.Cys46Gly |
Missense |
2/18 |
- |
1 |
19-11210968-G-T |
c.137G>T |
p.Cys46Phe |
Missense |
2/18 |
- |
1 |
19-11210970-G-A |
c.139G>A |
p.Asp47Asn |
Missense |
2/18 |
- |
1 |
19-11210971-A-G |
c.140A>G |
p.Asp47Gly |
Missense |
2/18 |
- |
1 |
19-11210971-GATG-G |
c.140_142del |
p.Asp47del |
InFrameDeletion |
2/18 |
- |
1 |
19-11210976-A-G |
c.145A>G |
p.Ser49Gly |
Missense |
2/18 |
- |
2 |
19-11210979-G-T |
c.148G>T |
p.Ala50Ser |
Missense |
2/18 |
- |
3 |
19-11210996-C-G |
c.165C>G |
p.Gly55Gly |
Synonymous |
2/18 |
- |
1 |
19-11210996-C-T |
c.165C>T |
p.Gly55Gly |
Synonymous |
2/18 |
- |
1 |
19-11211009-C-T |
c.178C>T |
p.Gln60* |
Nonsense |
2/18 |
- |
1 |
19-11211016-C-T |
c.185C>T |
p.Thr62Met |
Missense |
2/18 |
- |
2 |
19-11211019-G-A |
c.188G>A |
p.Cys63Tyr |
Missense |
2/18 |
- |
2 |
19-11211025-A-T |
c.190+4A>T |
- |
IntronicSNV |
- |
2/17 |
1 |
19-11211077-G-A |
c.190+56G>A |
- |
IntronicSNV |
- |
2/17 |
1 |
19-11211079-C-T |
c.190+58C>T |
- |
IntronicSNV |
- |
2/17 |
1 |
19-11212005-TTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGC-T |
c.190+984_190+1042del |
- |
Unclassified |
- |
2/17 |
1 |
19-11213338-A-G |
c.191-2A>G |
- |
IntronicSNV |
- |
2/17 |
1 |
19-11213340-T-C |
c.191T>C |
p.Leu64Ser |
Missense |
3/18 |
- |
1 |
19-11213340-GTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATT-G |
c.191_249del |
p.Leu64Serfs*46 |
Unclassified |
3/18 |
- |
1 |
19-11213344-T-TT |
c.195dup |
p.Val66Cysfs*64 |
Frameshift |
3/18 |
- |
1 |
19-11213352-G-A |
c.203G>A |
p.Cys68Tyr |
Missense |
3/18 |
- |
2 |
19-11213375-G-T |
c.226G>T |
p.Gly76Trp |
Missense |
3/18 |
- |
2 |
19-11213381-CGT-GAG |
c.232_234delinsGAG |
p.Arg78Glu |
Missense |
3/18 |
- |
1 |
19-11213381-C-T |
c.232C>T |
p.Arg78Cys |
Missense |
3/18 |
- |
1 |
19-11213382-G-A |
c.233G>A |
p.Arg78His |
Missense |
3/18 |
- |
2 |
19-11213387-AAC-CAA |
c.238_240delinsCAA |
p.Asn80Gln |
Missense |
3/18 |
- |
1 |
19-11213390-C-T |
c.241C>T |
p.Arg81Cys |
Missense |
3/18 |
- |
2 |
19-11213393-T-G |
c.244T>G |
p.Cys82Gly |
Missense |
3/18 |
- |
1 |
19-11213393-CT-C |
c.244del |
p.Cys82Alafs*124 |
Frameshift |
3/18 |
- |
1 |
19-11213398-TT-T |
c.249del |
p.Pro84Leufs*122 |
Frameshift |
3/18 |
- |
1 |
19-11213399-C-T |
c.250C>T |
p.Pro84Ser |
Missense |
3/18 |
- |
1 |
19-11213399-CC-GG |
c.250_251inv |
p.Pro84Gly |
Missense |
3/18 |
- |
1 |
19-11213404-G-T |
c.255G>T |
p.Gln85His |
Missense |
3/18 |
- |
1 |
19-11213408-T-C |
c.259T>C |
p.Trp87Arg |
Missense |
3/18 |
- |
1 |
19-11213408-T-G |
c.259T>G |
p.Trp87Gly |
Missense |
3/18 |
- |
6 |
19-11213409-G-A |
c.260G>A |
p.Trp87* |
Nonsense |
3/18 |
- |
2 |
19-11213409-GG-AA |
c.260_261delinsAA |
p.Trp87* |
Missense |
3/18 |
- |
1 |
19-11213410-G-A |
c.261G>A |
p.Trp87* |
Nonsense |
3/18 |
- |
2 |
19-11213413-G-C |
c.264G>C |
p.Arg88Ser |
Missense |
3/18 |
- |
1 |
19-11213413-G-T |
c.264G>T |
p.Arg88Ser |
Missense |
3/18 |
- |
1 |
19-11213414-T-G |
c.265T>G |
p.Cys89Gly |
Missense |
3/18 |
- |
1 |
19-11213414-T-C |
c.265T>C |
p.Cys89Arg |
Missense |
3/18 |
- |
2 |
19-11213415-G-A |
c.266G>A |
p.Cys89Tyr |
Missense |
3/18 |
- |
2 |
19-11213416-C-G |
c.267C>G |
p.Cys89Trp |
Missense |
3/18 |
- |
1 |
19-11213417-G-A |
c.268G>A |
p.Asp90Asn |
Missense |
3/18 |
- |
7 |
19-11213417-G-T |
c.268G>T |
p.Asp90Tyr |
Missense |
3/18 |
- |
1 |
19-11213419-T-A |
c.270T>A |
p.Asp90Glu |
Missense |
3/18 |
- |
2 |
19-11213420-G-C |
c.271G>C |
p.Gly91Arg |
Missense |
3/18 |
- |
1 |
19-11213421-GG-G |
c.272del |
p.Gly91Alafs*115 |
Frameshift |
3/18 |
- |
1 |
19-11213432-T-G |
c.283T>G |
p.Cys95Gly |
Missense |
3/18 |
- |
1 |
19-11213434-C-G |
c.285C>G |
p.Cys95Trp |
Missense |
3/18 |
- |
2 |
19-11213440-C-G |
c.291C>G |
p.Asn97Lys |
Missense |
3/18 |
- |
1 |
19-11213441-G-A |
c.292G>A |
p.Gly98Ser |
Missense |
3/18 |
- |
4 |
19-11213445-C-G |
c.296C>G |
p.Ser99* |
Nonsense |
3/18 |
- |
3 |
19-11213449-C-T |
c.300C>T |
p.Asp100Asp |
Synonymous |
3/18 |
- |
2 |
19-11213450-G-A |
c.301G>A |
p.Glu101Lys |
Missense |
3/18 |
- |
4 |
19-11213451-A-T |
c.302A>T |
p.Glu101Val |
Missense |
3/18 |
- |
1 |
19-11213453-C-T |
c.304C>T |
p.Gln102* |
Nonsense |
3/18 |
- |
2 |
19-11213459-T-C |
c.310T>C |
p.Cys104Arg |
Missense |
3/18 |
- |
1 |
19-11213460-G-A |
c.311G>A |
p.Cys104Tyr |
Missense |
3/18 |
- |
1 |
19-11213463-G-C |
c.313+1G>C |
- |
IntronicSNV |
- |
3/17 |
1 |
19-11213463-G-A |
c.313+1G>A |
- |
IntronicSNV |
- |
3/17 |
4 |
19-11213464-T-C |
c.313+2T>C |
- |
IntronicSNV |
- |
3/17 |
1 |
19-11213464-T-TT |
c.313+2dup |
- |
IntronicInsertion |
- |
3/17 |
1 |
19-11213467-G-T |
c.313+5G>T |
- |
IntronicSNV |
- |
3/17 |
1 |
19-11213467-G-A |
c.313+5G>A |
- |
IntronicSNV |
- |
3/17 |
3 |
19-11213468-T-C |
c.313+6T>C |
- |
IntronicSNV |
- |
3/17 |
1 |
19-11215894-A-G |
c.314-2A>G |
- |
IntronicSNV |
- |
3/17 |
1 |
19-11215898-CCCCAAGACGTGCTCCCAGGAC-C |
c.316_336del |
p.Pro106_Asp112del |
InFrameDeletion |
4/18 |
- |
1 |
19-11215902-AAGA-A |
c.320_322del |
p.Lys107del |
InFrameDeletion |
4/18 |
- |
1 |
19-11215905-C-T |
c.323C>T |
p.Thr108Met |
Missense |
4/18 |
- |
1 |
19-11215907-GTGCTCCCAGGACG-G |
c.325_337del |
p.Cys109Serfs*93 |
Frameshift |
4/18 |
- |
1 |
19-11215907-T-C |
c.325T>C |
p.Cys109Arg |
Missense |
4/18 |
- |
1 |
19-11215908-G-A |
c.326G>A |
p.Cys109Tyr |
Missense |
4/18 |
- |
2 |
19-11215918-C-CT |
c.336_337insT |
p.Glu113* |
Nonsense |
4/18 |
- |
1 |
19-11215919-G-GG |
c.337dup |
p.Glu113Glyfs*17 |
Frameshift |
4/18 |
- |
2 |
19-11215925-C-T |
c.343C>T |
p.Arg115Cys |
Missense |
4/18 |
- |
1 |
19-11215926-G-A |
c.344G>A |
p.Arg115His |
Missense |
4/18 |
- |
4 |
19-11215928-T-C |
c.346T>C |
p.Cys116Arg |
Missense |
4/18 |
- |
1 |
19-11215929-G-C |
c.347G>C |
p.Cys116Ser |
Missense |
4/18 |
- |
1 |
19-11215934-G-A |
c.352G>A |
p.Asp118Asn |
Missense |
4/18 |
- |
1 |
19-11215934-G-T |
c.352G>T |
p.Asp118Tyr |
Missense |
4/18 |
- |
2 |
19-11215939-GG-G |
c.357del |
p.Lys120Serfs*86 |
Frameshift |
4/18 |
- |
1 |
19-11215943-T-A |
c.361T>A |
p.Cys121Ser |
Missense |
4/18 |
- |
1 |
19-11215944-G-C |
c.362G>C |
p.Cys121Ser |
Missense |
4/18 |
- |
1 |
19-11215944-G-A |
c.362G>A |
p.Cys121Tyr |
Missense |
4/18 |
- |
1 |
19-11215946-CATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGC-C |
c.364_422del |
p.Ile122Leufs*38 |
InFrameDeletion |
4/18 |
- |
1 |
19-11215949-T-C |
c.367T>C |
p.Ser123Pro |
Missense |
4/18 |
- |
2 |
19-11215949-CTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTC-C |
c.367_425del |
p.Ser123Leufs*37 |
Frameshift |
4/18 |
- |
1 |
19-11215955-CA-GC |
c.373_374delinsGC |
p.Gln125Ala |
Missense |
4/18 |
- |
1 |
19-11215956-A-ACTGA |
c.374_375insCTGA |
p.Gln125Hisfs*2 |
Frameshift |
4/18 |
- |
1 |
19-11215962-T-A |
c.380T>A |
p.Val127Asp |
Missense |
4/18 |
- |
1 |
19-11215964-T-C |
c.382T>C |
p.Cys128Arg |
Missense |
4/18 |
- |
1 |
19-11215965-G-A |
c.383G>A |
p.Cys128Tyr |
Missense |
4/18 |
- |
2 |
19-11215965-G-T |
c.383G>T |
p.Cys128Phe |
Missense |
4/18 |
- |
1 |
19-11215967-G-T |
c.385G>T |
p.Asp129Tyr |
Missense |
4/18 |
- |
1 |
19-11215967-G-A |
c.385G>A |
p.Asp129Asn |
Missense |
4/18 |
- |
1 |
19-11215971-C-G |
c.389C>G |
p.Ser130* |
Nonsense |
4/18 |
- |
1 |
19-11215972-A-AT |
c.390_391insT |
p.Asp131* |
Nonsense |
4/18 |
- |
1 |
19-11215976-CGG-TAT |
c.394_396delinsTAT |
p.Arg132Tyr |
Missense |
4/18 |
- |
1 |
19-11215977-G-A |
c.395G>A |
p.Arg132Gln |
Missense |
4/18 |
- |
1 |
19-11215982-T-G |
c.400T>G |
p.Cys134Gly |
Missense |
4/18 |
- |
1 |
19-11215988-G-T |
c.406G>T |
p.Asp136Tyr |
Missense |
4/18 |
- |
1 |
19-11215989-A-T |
c.407A>T |
p.Asp136Val |
Missense |
4/18 |
- |
3 |
19-11215991-G-C |
c.409G>C |
p.Gly137Arg |
Missense |
4/18 |
- |
1 |
19-11215995-C-A |
c.413C>A |
p.Ser138* |
Nonsense |
4/18 |
- |
1 |
19-11215997-G-C |
c.415G>C |
p.Asp139His |
Missense |
4/18 |
- |
3 |
19-11215998-A-G |
c.416A>G |
p.Asp139Gly |
Missense |
4/18 |
- |
1 |
19-11215998-A-T |
c.416A>T |
p.Asp139Val |
Missense |
4/18 |
- |
1 |
19-11216000-G-T |
c.418G>T |
p.Glu140* |
Nonsense |
4/18 |
- |
2 |
19-11216000-G-A |
c.418G>A |
p.Glu140Lys |
Missense |
4/18 |
- |
3 |
19-11216006-CTCCTGCC-C |
c.424_430del |
p.Ser142Argfs*62 |
Frameshift |
4/18 |
- |
1 |
19-11216006-TC-GG |
c.424_425delinsGG |
p.Ser142Gly |
Missense |
4/18 |
- |
1 |
19-11216009-T-G |
c.427T>G |
p.Cys143Gly |
Missense |
4/18 |
- |
1 |
19-11216010-G-A |
c.428G>A |
p.Cys143Tyr |
Missense |
4/18 |
- |
3 |
19-11216011-C-A |
c.429C>A |
p.Cys143* |
Nonsense |
4/18 |
- |
1 |
19-11216014-G-GA |
c.432_433insA |
p.Val145Serfs*35 |
Frameshift |
4/18 |
- |
2 |
19-11216022-C-T |
c.440C>T |
p.Thr147Ile |
Missense |
4/18 |
- |
1 |
19-11216025-G-C |
c.443G>C |
p.Cys148Ser |
Missense |
4/18 |
- |
2 |
19-11216026-T-A |
c.444T>A |
p.Cys148* |
Nonsense |
4/18 |
- |
1 |
19-11216032-C-CC |
c.450dup |
p.Ala151Argfs*29 |
Frameshift |
4/18 |
- |
1 |
19-11216045-T-C |
c.463T>C |
p.Cys155Arg |
Missense |
4/18 |
- |
1 |
19-11216046-G-A |
c.464G>A |
p.Cys155Tyr |
Missense |
4/18 |
- |
2 |
19-11216047-C-A |
c.465C>A |
p.Cys155* |
Nonsense |
4/18 |
- |
1 |
19-11216067-C-T |
c.485C>T |
p.Pro162Leu |
Missense |
4/18 |
- |
1 |
19-11216083-C-G |
c.501C>G |
p.Cys167Trp |
Missense |
4/18 |
- |
1 |
19-11216083-C-A |
c.501C>A |
p.Cys167* |
Nonsense |
4/18 |
- |
1 |
19-11216084-G-A |
c.502G>A |
p.Asp168Asn |
Missense |
4/18 |
- |
1 |
19-11216084-G-C |
c.502G>C |
p.Asp168His |
Missense |
4/18 |
- |
1 |
19-11216085-A-G |
c.503A>G |
p.Asp168Gly |
Missense |
4/18 |
- |
1 |
19-11216089-C-T |
c.507C>T |
p.Asn169Asn |
Synonymous |
4/18 |
- |
1 |
19-11216090-G-A |
c.508G>A |
p.Asp170Asn |
Missense |
4/18 |
- |
1 |
19-11216096-G-A |
c.514G>A |
p.Asp172Asn |
Missense |
4/18 |
- |
2 |
19-11216096-G-C |
c.514G>C |
p.Asp172His |
Missense |
4/18 |
- |
1 |
19-11216098-C-A |
c.516C>A |
p.Asp172Glu |
Missense |
4/18 |
- |
2 |
19-11216099-T-C |
c.517T>C |
p.Cys173Arg |
Missense |
4/18 |
- |
2 |
19-11216101-C-G |
c.519C>G |
p.Cys173Trp |
Missense |
4/18 |
- |
1 |
19-11216103-A-C |
c.521A>C |
p.Glu174Ala |
Missense |
4/18 |
- |
1 |
19-11216106-A-G |
c.524A>G |
p.Asp175Gly |
Missense |
4/18 |
- |
1 |
19-11216111-T-C |
c.529T>C |
p.Ser177Pro |
Missense |
4/18 |
- |
1 |
19-11216112-C-T |
c.530C>T |
p.Ser177Leu |
Missense |
4/18 |
- |
7 |
19-11216117-G-T |
c.535G>T |
p.Glu179* |
Nonsense |
4/18 |
- |
1 |
19-11216121-G-A |
c.539G>A |
p.Trp180* |
Nonsense |
4/18 |
- |
1 |
19-11216132-TG-CT |
c.550_551delinsCT |
p.Cys184Leu |
Missense |
4/18 |
- |
1 |
19-11216132-T-G |
c.550T>G |
p.Cys184Gly |
Missense |
4/18 |
- |
1 |
19-11216133-G-A |
c.551G>A |
p.Cys184Tyr |
Missense |
4/18 |
- |
1 |
19-11216140-T-C |
c.558T>C |
p.Gly186Gly |
Synonymous |
4/18 |
- |
2 |
19-11216140-T-A |
c.558T>A |
p.Gly186Gly |
Synonymous |
4/18 |
- |
2 |
19-11216140-T-G |
c.558T>G |
p.Gly186Gly |
Synonymous |
4/18 |
- |
2 |
19-11216144-TA-GC |
c.562_563delinsGC |
p.Tyr188Ala |
Missense |
4/18 |
- |
1 |
19-11216153-C-T |
c.571C>T |
p.Gln191* |
Nonsense |
4/18 |
- |
1 |
19-11216163-G-T |
c.581G>T |
p.Ser194Ile |
Missense |
4/18 |
- |
1 |
19-11216171-T-G |
c.589T>G |
p.Cys197Gly |
Missense |
4/18 |
- |
1 |
19-11216171-T-C |
c.589T>C |
p.Cys197Arg |
Missense |
4/18 |
- |
1 |
19-11216172-G-A |
c.590G>A |
p.Cys197Tyr |
Missense |
4/18 |
- |
1 |
19-11216172-G-T |
c.590G>T |
p.Cys197Phe |
Missense |
4/18 |
- |
1 |
19-11216180-T-A |
c.598T>A |
p.Phe200Ile |
Missense |
4/18 |
- |
1 |
19-11216183-G-A |
c.601G>A |
p.Glu201Lys |
Missense |
4/18 |
- |
1 |
19-11216191-AC-A |
c.609del |
p.Cys204Alafs*2 |
Frameshift |
4/18 |
- |
1 |
19-11216193-G-A |
c.611G>A |
p.Cys204Tyr |
Missense |
4/18 |
- |
2 |
19-11216203-C-T |
c.621C>T |
p.Gly207Gly |
Synonymous |
4/18 |
- |
3 |
19-11216203-C-G |
c.621C>G |
p.Gly207Gly |
Synonymous |
4/18 |
- |
2 |
19-11216203-C-A |
c.621C>A |
p.Gly207Gly |
Synonymous |
4/18 |
- |
2 |
19-11216204-G-A |
c.622G>A |
p.Glu208Lys |
Missense |
4/18 |
- |
2 |
19-11216211-T-A |
c.629T>A |
p.Ile210Asn |
Missense |
4/18 |
- |
1 |
19-11216223-G-C |
c.641G>C |
p.Trp214Ser |
Missense |
4/18 |
- |
1 |
19-11216225-CGC-GAG |
c.643_645delinsGAG |
p.Arg215Glu |
Missense |
4/18 |
- |
1 |
19-11216226-G-A |
c.644G>A |
p.Arg215His |
Missense |
4/18 |
- |
3 |
19-11216229-G-T |
c.647G>T |
p.Cys216Phe |
Missense |
4/18 |
- |
1 |
19-11216230-GTGATGGTGG-G |
c.648_656del |
p.Asp217_Gly219del |
InFrameDeletion |
4/18 |
- |
1 |
19-11216236-GTGG-G |
c.654_656del |
p.Gly219del |
InFrameDeletion |
4/18 |
- |
3 |
19-11216237-G-A |
c.655G>A |
p.Gly219Ser |
Missense |
4/18 |
- |
1 |
19-11216237-TGG-T |
c.655_656del |
p.Gly219Profs*8 |
Frameshift |
4/18 |
- |
1 |
19-11216243-G-A |
c.661G>A |
p.Asp221Asn |
Missense |
4/18 |
- |
3 |
19-11216243-CG-C |
c.661del |
p.Asp221Thrfs*44 |
Frameshift |
4/18 |
- |
1 |
19-11216244-A-G |
c.662A>G |
p.Asp221Gly |
Missense |
4/18 |
- |
4 |
19-11216247-G-A |
c.665G>A |
p.Cys222Tyr |
Missense |
4/18 |
- |
1 |
19-11216247-G-T |
c.665G>T |
p.Cys222Phe |
Missense |
4/18 |
- |
2 |
19-11216248-C-A |
c.666C>A |
p.Cys222* |
Nonsense |
4/18 |
- |
2 |
19-11216248-GCAAGGACAAATCTGACGAGGAA-G |
c.666_687del |
p.Cys222* |
Frameshift |
4/18 |
- |
1 |
19-11216249-CAAGGACAAATCTGACGAGGAAAACTGC-C |
c.667_693del |
p.Lys223_Cys231del |
SpliceDonorDeletion |
4/18 |
- |
1 |
19-11216251-G-C |
c.669G>C |
p.Lys223Asn |
Missense |
4/18 |
- |
1 |
19-11216252-G-A |
c.670G>A |
p.Asp224Asn |
Missense |
4/18 |
- |
1 |
19-11216257-AA-A |
c.675del |
p.Lys225Asnfs*40 |
Frameshift |
4/18 |
- |
1 |
19-11216258-T-C |
c.676T>C |
p.Ser226Pro |
Missense |
4/18 |
- |
1 |
19-11216260-T-TT |
c.678dup |
p.Asp227* |
Nonsense |
4/18 |
- |
1 |
19-11216262-GAC-G |
c.680_681del |
p.Asp227Glyfs*12 |
Frameshift |
4/18 |
- |
2 |
19-11216262-A-T |
c.680A>T |
p.Asp227Val |
Missense |
4/18 |
- |
1 |
19-11216262-ACG-CGGTATGGACTGCA |
c.680_682delinsCGGTATGGACTGCA |
p.Asp227Alafs*42 |
Frameshift |
4/18 |
- |
1 |
19-11216263-C-T |
c.681C>T |
p.Asp227Asp |
Synonymous |
4/18 |
- |
1 |
19-11216263-C-G |
c.681C>G |
p.Asp227Glu |
Missense |
4/18 |
- |
7 |
19-11216263-C-A |
c.681C>A |
p.Asp227Glu |
Missense |
4/18 |
- |
5 |
19-11216263-C-CTGAG |
c.681_682insTGAG |
p.Glu228* |
Nonsense |
4/18 |
- |
1 |
19-11216263-ACGA-A |
c.681_683del |
p.Asp227del |
InFrameDeletion |
4/18 |
- |
1 |
19-11216264-G-C |
c.682G>C |
p.Glu228Gln |
Missense |
4/18 |
- |
4 |
19-11216264-CG-C |
c.682del |
p.Glu228Argfs*37 |
Frameshift |
4/18 |
- |
1 |
19-11216264-G-A |
c.682G>A |
p.Glu228Lys |
Missense |
4/18 |
- |
12 |
19-11216264-G-T |
c.682G>T |
p.Glu228* |
Nonsense |
4/18 |
- |
8 |
19-11216268-A-T |
c.686A>T |
p.Glu229Val |
Missense |
4/18 |
- |
1 |
19-11216273-T-C |
c.691T>C |
p.Cys231Arg |
Missense |
4/18 |
- |
1 |
19-11216273-CTGC-C |
c.691_693del |
p.Cys231del |
InFrameDeletion |
4/18 |
- |
1 |
19-11216275-GCGGTATGGGCGGGGCCAGGGTG-G |
c.693_694+20del |
- |
SpliceDonorDeletion |
4/18 |
4/17 |
1 |
19-11216275-C-G |
c.693C>G |
p.Cys231Trp |
Missense |
4/18 |
- |
2 |
19-11216277-G-T |
c.694+1G>T |
- |
IntronicSNV |
- |
4/17 |
1 |
19-11216278-T-C |
c.694+2T>C |
- |
IntronicSNV |
- |
4/17 |
2 |
19-11216561-A-C |
c.694+285A>C |
- |
IntronicSNV |
- |
4/17 |
6 |
19-11216561-A-T |
c.694+285A>T |
- |
IntronicSNV |
- |
4/17 |
6 |
19-11217250-CC-TG |
c.704_705delinsTG |
p.Thr235Met |
Missense |
5/18 |
- |
1 |
19-11217251-C-T |
c.705C>T |
p.Thr235Thr |
Synonymous |
5/18 |
- |
1 |
19-11217251-C-G |
c.705C>G |
p.Thr235Thr |
Synonymous |
5/18 |
- |
1 |
19-11217251-C-A |
c.705C>A |
p.Thr235Thr |
Synonymous |
5/18 |
- |
1 |
19-11217256-G-A |
c.710G>A |
p.Arg237His |
Missense |
5/18 |
- |
1 |
19-11217264-G-T |
c.718G>T |
p.Glu240* |
Nonsense |
5/18 |
- |
1 |
19-11217264-G-A |
c.718G>A |
p.Glu240Lys |
Missense |
5/18 |
- |
3 |
19-11217268-T-C |
c.722T>C |
p.Phe241Ser |
Missense |
5/18 |
- |
1 |
19-11217271-A-G |
c.725A>G |
p.Gln242Arg |
Missense |
5/18 |
- |
2 |
19-11217273-TG-AC |
c.727_728delinsAC |
p.Cys243Thr |
Missense |
5/18 |
- |
1 |
19-11217273-T-C |
c.727T>C |
p.Cys243Arg |
Missense |
5/18 |
- |
1 |
19-11217274-G-A |
c.728G>A |
p.Cys243Tyr |
Missense |
5/18 |
- |
1 |
19-11217281-T-G |
c.735T>G |
p.Asp245Glu |
Missense |
5/18 |
- |
2 |
19-11217281-T-A |
c.735T>A |
p.Asp245Glu |
Missense |
5/18 |
- |
2 |
19-11217298-G-GG |
c.752dup |
p.Ser252Glnfs*5 |
Frameshift |
5/18 |
- |
1 |
19-11217303-C-T |
c.757C>T |
p.Arg253Trp |
Missense |
5/18 |
- |
2 |
19-11217306-C-T |
c.760C>T |
p.Gln254* |
Nonsense |
5/18 |
- |
1 |
19-11217307-A-C |
c.761A>C |
p.Gln254Pro |
Missense |
5/18 |
- |
2 |
19-11217309-T-A |
c.763T>A |
p.Cys255Ser |
Missense |
5/18 |
- |
1 |
19-11217310-G-A |
c.764G>A |
p.Cys255Tyr |
Missense |
5/18 |
- |
1 |
19-11217314-C-G |
c.768C>G |
p.Asp256Glu |
Missense |
5/18 |
- |
1 |
19-11217315-CG-TA |
c.769_770delinsTA |
p.Arg257* |
Nonsense |
5/18 |
- |
1 |
19-11217315-C-T |
c.769C>T |
p.Arg257Trp |
Missense |
5/18 |
- |
8 |
19-11217328-G-T |
c.782G>T |
p.Cys261Phe |
Missense |
5/18 |
- |
1 |
19-11217339-A-T |
c.793A>T |
p.Ser265Cys |
Missense |
5/18 |
- |
1 |
19-11217341-C-G |
c.795C>G |
p.Ser265Arg |
Missense |
5/18 |
- |
1 |
19-11217341-C-A |
c.795C>A |
p.Ser265Arg |
Missense |
5/18 |
- |
1 |
19-11217339-A-C |
c.793A>C |
p.Ser265Arg |
Missense |
5/18 |
- |
1 |
19-11217342-G-A |
c.796G>A |
p.Asp266Asn |
Missense |
5/18 |
- |
2 |
19-11217344-T-A |
c.798T>A |
p.Asp266Glu |
Missense |
5/18 |
- |
6 |
19-11217352-G-A |
c.806G>A |
p.Gly269Asp |
Missense |
5/18 |
- |
5 |
19-11217355-G-C |
c.809G>C |
p.Cys270Ser |
Missense |
5/18 |
- |
1 |
19-11217354-T-A |
c.808T>A |
p.Cys270Ser |
Missense |
5/18 |
- |
1 |
19-11217354-T-C |
c.808T>C |
p.Cys270Arg |
Missense |
5/18 |
- |
1 |
19-11217355-G-A |
c.809G>A |
p.Cys270Tyr |
Missense |
5/18 |
- |
1 |
19-11217357-G-A |
c.811G>A |
p.Val271Ile |
Missense |
5/18 |
- |
1 |
19-11217361-A-C |
c.815A>C |
p.Asn272Thr |
Missense |
5/18 |
- |
1 |
19-11218076-T-C |
c.826T>C |
p.Cys276Arg |
Missense |
6/18 |
- |
1 |
19-11218078-C-A |
c.828C>A |
p.Cys276* |
Nonsense |
6/18 |
- |
1 |
19-11218079-G-A |
c.829G>A |
p.Glu277Lys |
Missense |
6/18 |
- |
5 |
19-11218079-G-T |
c.829G>T |
p.Glu277* |
Nonsense |
6/18 |
- |
1 |
19-11218094-T-C |
c.844T>C |
p.Phe282Leu |
Missense |
6/18 |
- |
1 |
19-11218096-C-G |
c.846C>G |
p.Phe282Leu |
Missense |
6/18 |
- |
1 |
19-11218096-C-A |
c.846C>A |
p.Phe282Leu |
Missense |
6/18 |
- |
1 |
19-11218100-T-C |
c.850T>C |
p.Cys284Arg |
Missense |
6/18 |
- |
1 |
19-11218100-T-A |
c.850T>A |
p.Cys284Ser |
Missense |
6/18 |
- |
1 |
19-11218104-A-G |
c.854A>G |
p.His285Arg |
Missense |
6/18 |
- |
1 |
19-11218109-G-A |
c.859G>A |
p.Gly287Ser |
Missense |
6/18 |
- |
1 |
19-11218110-G-A |
c.860G>A |
p.Gly287Asp |
Missense |
6/18 |
- |
1 |
19-11218112-G-A |
c.862G>A |
p.Glu288Lys |
Missense |
6/18 |
- |
1 |
19-11218115-AT-A |
c.865del |
p.Cys289Alafs*81 |
Frameshift |
6/18 |
- |
1 |
19-11218119-T-G |
c.869T>G |
p.Ile290Ser |
Missense |
6/18 |
- |
1 |
19-11218125-T-TT |
c.875dup |
p.Asp293Glyfs*8 |
Frameshift |
6/18 |
- |
1 |
19-11218137-G-A |
c.887G>A |
p.Cys296Tyr |
Missense |
6/18 |
- |
1 |
19-11218138-C-A |
c.888C>A |
p.Cys296* |
Nonsense |
6/18 |
- |
1 |
19-11218139-AA-GC |
c.889_890delinsGC |
p.Asn297Ala |
Missense |
6/18 |
- |
1 |
19-11218140-A-C |
c.890A>C |
p.Asn297Thr |
Missense |
6/18 |
- |
2 |
19-11218140-AA-A |
c.890del |
p.Asn297Thrfs*73 |
Frameshift |
6/18 |
- |
1 |
19-11218140-AACAT-A |
c.890_893del |
p.Asn297Argfs*72 |
Frameshift |
6/18 |
- |
1 |
19-11218142-AT-CA |
c.892_893delinsCA |
p.Met298Gln |
Missense |
6/18 |
- |
1 |
19-11218142-CA-C |
c.892del |
p.Met298Trpfs*72 |
Frameshift |
6/18 |
- |
1 |
19-11218145-G-A |
c.895G>A |
p.Ala299Thr |
Missense |
6/18 |
- |
2 |
19-11218148-A-G |
c.898A>G |
p.Arg300Gly |
Missense |
6/18 |
- |
2 |
19-11218148-A-T |
c.898A>T |
p.Arg300* |
Nonsense |
6/18 |
- |
2 |
19-11218151-G-T |
c.901G>T |
p.Asp301Tyr |
Missense |
6/18 |
- |
1 |
19-11218152-A-G |
c.902A>G |
p.Asp301Gly |
Missense |
6/18 |
- |
2 |
19-11218155-G-T |
c.905G>T |
p.Cys302Phe |
Missense |
6/18 |
- |
1 |
19-11218157-C-T |
c.907C>T |
p.Arg303Trp |
Missense |
6/18 |
- |
1 |
19-11218160-G-GG |
c.910dup |
p.Asp304Glyfs*5 |
Frameshift |
6/18 |
- |
1 |
19-11218160-G-T |
c.910G>T |
p.Asp304Tyr |
Missense |
6/18 |
- |
1 |
19-11218160-G-A |
c.910G>A |
p.Asp304Asn |
Missense |
6/18 |
- |
2 |
19-11218164-G-C |
c.914G>C |
p.Trp305Ser |
Missense |
6/18 |
- |
1 |
19-11218167-C-T |
c.917C>T |
p.Ser306Leu |
Missense |
6/18 |
- |
4 |
19-11218178-A-T |
c.928A>T |
p.Ile310Phe |
Missense |
6/18 |
- |
1 |
19-11218189-C-A |
c.939C>A |
p.Cys313* |
Nonsense |
6/18 |
- |
1 |
19-11218190-CGGTGAGTCTCGGTGC-C |
c.940_940+14del |
- |
SpliceDonorDeletion |
6/18 |
6/17 |
2 |
19-11218190-G-A |
c.940G>A |
p.Gly314Arg |
Missense |
6/18 |
- |
1 |
19-11218190-G-C |
c.940G>C |
p.Gly314Arg |
Missense |
6/18 |
- |
1 |
19-11218191-G-C |
c.940+1G>C |
- |
IntronicSNV |
- |
6/17 |
1 |
19-11218191-G-A |
c.940+1G>A |
- |
IntronicSNV |
- |
6/17 |
1 |
19-11218192-T-A |
c.940+2T>A |
- |
IntronicSNV |
- |
6/17 |
1 |
19-11218204-GC-G |
c.940+14del |
- |
IntronicDeletion |
- |
6/17 |
1 |
19-11218226-G-A |
c.940+36G>A |
- |
IntronicSNV |
- |
6/17 |
1 |
19-11218965-G-T |
c.940+775G>T |
- |
IntronicSNV |
- |
6/17 |
2 |
19-11218965-G-A |
c.940+775G>A |
- |
IntronicSNV |
- |
6/17 |
2 |
19-11219281-T-C |
c.940+1091T>C |
- |
IntronicSNV |
- |
6/17 |
1 |
19-11221316-G-A |
c.941-12G>A |
- |
IntronicSNV |
- |
6/17 |
2 |
19-11221324-G-A |
c.941-4G>A |
- |
IntronicSNV |
- |
6/17 |
2 |
19-11221326-A-G |
c.941-2A>G |
- |
IntronicSNV |
- |
6/17 |
1 |
19-11221327-G-A |
c.941-1G>A |
- |
IntronicSNV |
- |
6/17 |
1 |
19-11221328-G-C |
c.941G>C |
p.Gly314Ala |
Missense |
7/18 |
- |
1 |
19-11221331-C-T |
c.944C>T |
p.Thr315Ile |
Missense |
7/18 |
- |
1 |
19-11221334-A-G |
c.947A>G |
p.Asn316Ser |
Missense |
7/18 |
- |
1 |
19-11221338-AA-A |
c.951del |
p.Glu317Aspfs*53 |
Frameshift |
7/18 |
- |
1 |
19-11221339-T-C |
c.952T>C |
p.Cys318Arg |
Missense |
7/18 |
- |
1 |
19-11221340-G-A |
c.953G>A |
p.Cys318Tyr |
Missense |
7/18 |
- |
1 |
19-11221352-A-T |
c.965A>T |
p.Asn322Ile |
Missense |
7/18 |
- |
1 |
19-11221357-G-A |
c.970G>A |
p.Gly324Ser |
Missense |
7/18 |
- |
1 |
19-11221361-G-T |
c.974G>T |
p.Cys325Phe |
Missense |
7/18 |
- |
1 |
19-11221361-G-A |
c.974G>A |
p.Cys325Tyr |
Missense |
7/18 |
- |
3 |
19-11221364-C-G |
c.977C>G |
p.Ser326Cys |
Missense |
7/18 |
- |
2 |
19-11221366-C-T |
c.979C>T |
p.His327Tyr |
Missense |
7/18 |
- |
3 |
19-11221373-G-A |
c.986G>A |
p.Cys329Tyr |
Missense |
7/18 |
- |
7 |
19-11221373-G-T |
c.986G>T |
p.Cys329Phe |
Missense |
7/18 |
- |
2 |
19-11221375-AA-CT |
c.988_989delinsCT |
p.Asn330Leu |
Missense |
7/18 |
- |
1 |
19-11221380-C-A |
c.993C>A |
p.Asp331Glu |
Missense |
7/18 |
- |
1 |
19-11221380-C-G |
c.993C>G |
p.Asp331Glu |
Missense |
7/18 |
- |
1 |
19-11221390-G-A |
c.1003G>A |
p.Gly335Ser |
Missense |
7/18 |
- |
2 |
19-11221391-G-T |
c.1004G>T |
p.Gly335Val |
Missense |
7/18 |
- |
1 |
19-11221393-T-A |
c.1006T>A |
p.Tyr336Asn |
Missense |
7/18 |
- |
1 |
19-11221394-A-G |
c.1007A>G |
p.Tyr336Cys |
Missense |
7/18 |
- |
1 |
19-11221395-AC-A |
c.1008del |
p.Tyr336* |
Frameshift |
7/18 |
- |
1 |
19-11221399-T-A |
c.1012T>A |
p.Cys338Ser |
Missense |
7/18 |
- |
1 |
19-11221400-G-T |
c.1013G>T |
p.Cys338Phe |
Missense |
7/18 |
- |
1 |
19-11221400-G-A |
c.1013G>A |
p.Cys338Tyr |
Missense |
7/18 |
- |
1 |
19-11221402-CTG-GAC |
c.1015_1017delinsGAC |
p.Leu339Asp |
Missense |
7/18 |
- |
1 |
19-11221406-GC-TG |
c.1019_1020delinsTG |
p.Cys340Leu |
Missense |
7/18 |
- |
1 |
19-11221411-G-A |
c.1024G>A |
p.Asp342Asn |
Missense |
7/18 |
- |
1 |
19-11221414-G-T |
c.1027G>T |
p.Gly343Cys |
Missense |
7/18 |
- |
1 |
19-11221414-G-A |
c.1027G>A |
p.Gly343Ser |
Missense |
7/18 |
- |
4 |
19-11221421-A-C |
c.1034A>C |
p.Gln345Pro |
Missense |
7/18 |
- |
1 |
19-11221422-G-A |
c.1035G>A |
p.Gln345Gln |
Synonymous |
7/18 |
- |
1 |
19-11221424-TG-AT |
c.1037_1038delinsAT |
p.Leu346His |
Missense |
7/18 |
- |
1 |
19-11221429-GG-G |
c.1042del |
p.Ala348Profs*22 |
Frameshift |
7/18 |
- |
1 |
19-11221435-C-T |
c.1048C>T |
p.Arg350* |
Nonsense |
7/18 |
- |
4 |
19-11221441-T-A |
c.1054T>A |
p.Cys352Ser |
Missense |
7/18 |
- |
1 |
19-11221442-G-T |
c.1055G>T |
p.Cys352Phe |
Missense |
7/18 |
- |
2 |
19-11221442-G-A |
c.1055G>A |
p.Cys352Tyr |
Missense |
7/18 |
- |
2 |
19-11221443-C-G |
c.1056C>G |
p.Cys352Trp |
Missense |
7/18 |
- |
1 |
19-11221444-G-A |
c.1057G>A |
p.Glu353Lys |
Missense |
7/18 |
- |
1 |
19-11221454-T-C |
c.1060+7T>C |
- |
IntronicSNV |
- |
7/17 |
3 |
19-11221457-G-A |
c.1060+10G>A |
- |
IntronicSNV |
- |
7/17 |
2 |
19-11221457-G-C |
c.1060+10G>C |
- |
IntronicSNV |
- |
7/17 |
4 |
19-11221471-C-A |
c.1060+24C>A |
- |
IntronicSNV |
- |
7/17 |
1 |
19-11221473-T-G |
c.1060+26T>G |
- |
IntronicSNV |
- |
7/17 |
1 |
19-11222182-T-C |
c.1061-8T>C |
- |
IntronicSNV |
- |
7/17 |
3 |
19-11222188-A-G |
c.1061-2A>G |
- |
IntronicSNV |
- |
7/17 |
1 |
19-11222190-A-C |
c.1061A>C |
p.Asp354Ala |
Missense |
8/18 |
- |
1 |
19-11222196-A-T |
c.1067A>T |
p.Asp356Val |
Missense |
8/18 |
- |
1 |
19-11222196-A-C |
c.1067A>C |
p.Asp356Ala |
Missense |
8/18 |
- |
1 |
19-11222201-T-C |
c.1072T>C |
p.Cys358Arg |
Missense |
8/18 |
- |
1 |
19-11222207-G-C |
c.1078G>C |
p.Asp360His |
Missense |
8/18 |
- |
1 |
19-11222214-A-C |
c.1085A>C |
p.Asp362Ala |
Missense |
8/18 |
- |
1 |
19-11222214-GA-G |
c.1085del |
p.Asp362Alafs*8 |
Frameshift |
8/18 |
- |
1 |
19-11222219-T-C |
c.1090T>C |
p.Cys364Arg |
Missense |
8/18 |
- |
2 |
19-11222231-T-C |
c.1102T>C |
p.Cys368Arg |
Missense |
8/18 |
- |
1 |
19-11222232-G-A |
c.1103G>A |
p.Cys368Tyr |
Missense |
8/18 |
- |
2 |
19-11222232-G-C |
c.1103G>C |
p.Cys368Ser |
Missense |
8/18 |
- |
1 |
19-11222238-A-G |
c.1109A>G |
p.Asn370Ser |
Missense |
8/18 |
- |
4 |
19-11222246-G-T |
c.1117G>T |
p.Gly373Cys |
Missense |
8/18 |
- |
1 |
19-11222247-GG-G |
c.1118del |
p.Gly373Valfs*40 |
Frameshift |
8/18 |
- |
1 |
19-11222247-G-A |
c.1118G>A |
p.Gly373Asp |
Missense |
8/18 |
- |
1 |
19-11222249-G-T |
c.1120G>T |
p.Gly374Cys |
Missense |
8/18 |
- |
1 |
19-11222249-G-A |
c.1120G>A |
p.Gly374Ser |
Missense |
8/18 |
- |
1 |
19-11222253-A-G |
c.1124A>G |
p.Tyr375Cys |
Missense |
8/18 |
- |
1 |
19-11222258-T-G |
c.1129T>G |
p.Cys377Gly |
Missense |
8/18 |
- |
2 |
19-11222259-G-T |
c.1130G>T |
p.Cys377Phe |
Missense |
8/18 |
- |
1 |
19-11222259-G-A |
c.1130G>A |
p.Cys377Tyr |
Missense |
8/18 |
- |
1 |
19-11222261-C-T |
c.1132C>T |
p.Gln378* |
Nonsense |
8/18 |
- |
1 |
19-11222262-A-C |
c.1133A>C |
p.Gln378Pro |
Missense |
8/18 |
- |
2 |
19-11222264-T-C |
c.1135T>C |
p.Cys379Arg |
Missense |
8/18 |
- |
4 |
19-11222265-G-A |
c.1136G>A |
p.Cys379Tyr |
Missense |
8/18 |
- |
1 |
19-11222268-A-C |
c.1139A>C |
p.Glu380Ala |
Missense |
8/18 |
- |
1 |
19-11222279-C-T |
c.1150C>T |
p.Gln384* |
Nonsense |
8/18 |
- |
1 |
19-11222282-C-G |
c.1153C>G |
p.Leu385Val |
Missense |
8/18 |
- |
1 |
19-11222287-C-G |
c.1158C>G |
p.Asp386Glu |
Missense |
8/18 |
- |
1 |
19-11222287-C-A |
c.1158C>A |
p.Asp386Glu |
Missense |
8/18 |
- |
1 |
19-11222296-G-A |
c.1167G>A |
p.Thr389Thr |
Synonymous |
8/18 |
- |
1 |
19-11222300-G-A |
c.1171G>A |
p.Ala391Thr |
Missense |
8/18 |
- |
16 |
19-11222309-GGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCA-G |
c.1181_1186+53del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
8/18 |
8/17 |
1 |
19-11222314-G-GC |
c.1185_1186insC |
p.Gly396Argfs*45 |
SpliceDonorInsertion |
8/18 |
- |
1 |
19-11222314-G-GT |
c.1185_1186insT |
p.Gly396Trpfs*45 |
SpliceDonorInsertion |
8/18 |
- |
1 |
19-11222314-G-GA |
c.1185_1186insA |
p.Gly396Argfs*45 |
SpliceDonorInsertion |
8/18 |
- |
1 |
19-11222315-G-A |
c.1186G>A |
p.Gly396Ser |
Missense |
8/18 |
- |
1 |
19-11222316-G-A |
c.1186+1G>A |
- |
IntronicSNV |
- |
8/17 |
1 |
19-11222320-G-A |
c.1186+5G>A |
- |
IntronicSNV |
- |
8/17 |
1 |
19-11222356-T-A |
c.1186+41T>A |
- |
IntronicSNV |
- |
8/17 |
1 |
19-11223015-TGACTTCGTGATCCGCCCACCTCGGCCTTCCAAAGTGCTCGGATTACAGGCGTGAGCCAC-T |
c.1186+700_1186+758del |
- |
Unclassified |
- |
8/17 |
1 |
19-11223944-G-A |
c.1187-10G>A |
- |
IntronicSNV |
- |
8/17 |
4 |
19-11223953-G-A |
c.1187-1G>A |
- |
IntronicSNV |
- |
8/17 |
1 |
19-11223954-G-C |
c.1187G>C |
p.Gly396Ala |
Missense |
9/18 |
- |
2 |
19-11223961-C-T |
c.1194C>T |
p.Ile398Ile |
Synonymous |
9/18 |
- |
4 |
19-11223962-G-A |
c.1195G>A |
p.Ala399Thr |
Missense |
9/18 |
- |
1 |
19-11223968-C-G |
c.1201C>G |
p.Leu401Val |
Missense |
9/18 |
- |
1 |
19-11223968-C-T |
c.1201C>T |
p.Leu401Phe |
Missense |
9/18 |
- |
1 |
19-11223969-T-C |
c.1202T>C |
p.Leu401Pro |
Missense |
9/18 |
- |
1 |
19-11223971-T-C |
c.1204T>C |
p.Phe402Leu |
Missense |
9/18 |
- |
1 |
19-11223973-TC-T |
c.1206del |
p.Phe403Serfs*10 |
Frameshift |
9/18 |
- |
1 |
19-11223978-C-T |
c.1211C>T |
p.Thr404Ile |
Missense |
9/18 |
- |
2 |
19-11223981-A-C |
c.1214A>C |
p.Asn405Thr |
Missense |
9/18 |
- |
1 |
19-11223983-C-T |
c.1216C>T |
p.Arg406Trp |
Missense |
9/18 |
- |
3 |
19-11223983-C-A |
c.1216C>A |
p.Arg406Arg |
Synonymous |
9/18 |
- |
5 |
19-11223984-GG-AT |
c.1217_1218delinsAT |
p.Arg406His |
Missense |
9/18 |
- |
1 |
19-11223989-G-A |
c.1222G>A |
p.Glu408Lys |
Missense |
9/18 |
- |
4 |
19-11223989-G-C |
c.1222G>C |
p.Glu408Gln |
Missense |
9/18 |
- |
1 |
19-11223990-A-C |
c.1223A>C |
p.Glu408Ala |
Missense |
9/18 |
- |
1 |
19-11223990-A-T |
c.1223A>T |
p.Glu408Val |
Missense |
9/18 |
- |
1 |
19-11223995-AG-GA |
c.1228_1229delinsGA |
p.Arg410Glu |
Missense |
9/18 |
- |
1 |
19-11223995-AG-GC |
c.1228_1229delinsGC |
p.Arg410Ala |
Missense |
9/18 |
- |
2 |
19-11223996-G-A |
c.1229G>A |
p.Arg410Lys |
Missense |
9/18 |
- |
1 |
19-11223997-G-T |
c.1230G>T |
p.Arg410Ser |
Missense |
9/18 |
- |
4 |
19-11223997-G-C |
c.1230G>C |
p.Arg410Ser |
Missense |
9/18 |
- |
4 |
19-11224005-C-T |
c.1238C>T |
p.Thr413Met |
Missense |
9/18 |
- |
3 |
19-11224008-T-G |
c.1241T>G |
p.Leu414Arg |
Missense |
9/18 |
- |
4 |
19-11224013-C-T |
c.1246C>T |
p.Arg416Trp |
Missense |
9/18 |
- |
10 |
19-11224014-G-T |
c.1247G>T |
p.Arg416Leu |
Missense |
9/18 |
- |
1 |
19-11224019-G-A |
c.1252G>A |
p.Glu418Lys |
Missense |
9/18 |
- |
2 |
19-11224023-A-T |
c.1256A>T |
p.Tyr419Phe |
Missense |
9/18 |
- |
1 |
19-11224024-C-A |
c.1257C>A |
p.Tyr419* |
Nonsense |
9/18 |
- |
2 |
19-11224024-C-G |
c.1257C>G |
p.Tyr419* |
Nonsense |
9/18 |
- |
2 |
19-11224031-C-G |
c.1264C>G |
p.Leu422Val |
Missense |
9/18 |
- |
1 |
19-11224035-T-C |
c.1268T>C |
p.Ile423Thr |
Missense |
9/18 |
- |
2 |
19-11224041-A-G |
c.1274A>G |
p.Asn425Ser |
Missense |
9/18 |
- |
3 |
19-11224046-AG-GC |
c.1279_1280delinsGC |
p.Arg427Ala |
Missense |
9/18 |
- |
1 |
19-11224052-G-A |
c.1285G>A |
p.Val429Met |
Missense |
9/18 |
- |
8 |
19-11224052-G-C |
c.1285G>C |
p.Val429Leu |
Missense |
9/18 |
- |
5 |
19-11224055-G-C |
c.1288G>C |
p.Val430Leu |
Missense |
9/18 |
- |
1 |
19-11224058-G-A |
c.1291G>A |
p.Ala431Thr |
Missense |
9/18 |
- |
2 |
19-11224061-C-G |
c.1294C>G |
p.Leu432Val |
Missense |
9/18 |
- |
1 |
19-11224064-G-C |
c.1297G>C |
p.Asp433His |
Missense |
9/18 |
- |
2 |
19-11224064-GA-AG |
c.1297_1298delinsAG |
p.Asp433Ser |
Missense |
9/18 |
- |
1 |
19-11224068-C-G |
c.1301C>G |
p.Thr434Arg |
Missense |
9/18 |
- |
1 |
19-11224068-C-A |
c.1301C>A |
p.Thr434Lys |
Missense |
9/18 |
- |
1 |
19-11224071-A-G |
c.1304A>G |
p.Glu435Gly |
Missense |
9/18 |
- |
1 |
19-11224073-G-A |
c.1306G>A |
p.Val436Met |
Missense |
9/18 |
- |
1 |
19-11224089-T-C |
c.1322T>C |
p.Ile441Thr |
Missense |
9/18 |
- |
1 |
19-11224090-C-T |
c.1323C>T |
p.Ile441Ile |
Synonymous |
9/18 |
- |
1 |
19-11224090-C-G |
c.1323C>G |
p.Ile441Met |
Missense |
9/18 |
- |
1 |
19-11224096-GG-G |
c.1329del |
p.Trp443Cysfs*8 |
Frameshift |
9/18 |
- |
1 |
19-11224099-T-TT |
c.1332dup |
p.Asp445* |
Nonsense |
9/18 |
- |
2 |
19-11224102-C-A |
c.1335C>A |
p.Asp445Glu |
Missense |
9/18 |
- |
1 |
19-11224102-C-G |
c.1335C>G |
p.Asp445Glu |
Missense |
9/18 |
- |
1 |
19-11224103-C-G |
c.1336C>G |
p.Leu446Val |
Missense |
9/18 |
- |
2 |
19-11224107-CC-AA |
c.1340_1341delinsAA |
p.Ser447* |
Nonsense |
9/18 |
- |
14 |
19-11224107-C-G |
c.1340C>G |
p.Ser447Cys |
Missense |
9/18 |
- |
1 |
19-11224109-C-T |
c.1342C>T |
p.Gln448* |
Nonsense |
9/18 |
- |
2 |
19-11224110-CA-C |
c.1343del |
p.Gln448Argfs*3 |
Frameshift |
9/18 |
- |
1 |
19-11224119-T-C |
c.1352T>C |
p.Ile451Thr |
Missense |
9/18 |
- |
2 |
19-11224128-TGAGCGT-T |
c.1358+3_1358+8del |
- |
IntronicDeletion |
- |
9/17 |
1 |
19-11224156-C-T |
c.1358+31C>T |
- |
IntronicSNV |
- |
9/17 |
1 |
19-11224157-C-T |
c.1358+32C>T |
- |
IntronicSNV |
- |
9/17 |
1 |
19-11224180-GGCGCTGATG-G |
c.1359-31_1359-23del |
- |
IntronicDeletion |
- |
9/17 |
1 |
19-11224181-C-T |
c.1359-30C>T |
- |
IntronicSNV |
- |
9/17 |
12 |
19-11224181-C-A |
c.1359-30C>A |
- |
IntronicSNV |
- |
9/17 |
11 |
19-11224206-C-G |
c.1359-5C>G |
- |
IntronicSNV |
- |
9/17 |
1 |
19-11224207-T-C |
c.1359-4T>C |
- |
IntronicSNV |
- |
9/17 |
1 |
19-11224210-G-A |
c.1359-1G>A |
- |
IntronicSNV |
- |
9/17 |
3 |
19-11224212-AC-TG |
c.1360_1361delinsTG |
p.Thr454Cys |
Missense |
10/18 |
- |
1 |
19-11224213-C-A |
c.1361C>A |
p.Thr454Asn |
Missense |
10/18 |
- |
3 |
19-11224215-CC-C |
c.1363del |
p.Gln455Serfs*52 |
Frameshift |
10/18 |
- |
1 |
19-11224219-T-C |
c.1367T>C |
p.Leu456Pro |
Missense |
10/18 |
- |
1 |
19-11224224-AG-GC |
c.1372_1373delinsGC |
p.Arg458Ala |
Missense |
10/18 |
- |
1 |
19-11224228-C-T |
c.1376C>T |
p.Ala459Val |
Missense |
10/18 |
- |
1 |
19-11224242-TC-AA |
c.1390_1391delinsAA |
p.Ser464Asn |
Missense |
10/18 |
- |
1 |
19-11224263-A-G |
c.1411A>G |
p.Arg471Gly |
Missense |
10/18 |
- |
2 |
19-11224265-A-G |
c.1413A>G |
p.Arg471Arg |
Synonymous |
10/18 |
- |
20 |
19-11224263-A-C |
c.1411A>C |
p.Arg471Arg |
Synonymous |
10/18 |
- |
2 |
19-11224266-G-T |
c.1414G>T |
p.Asp472Tyr |
Missense |
10/18 |
- |
2 |
19-11224276-C-T |
c.1424C>T |
p.Ala475Val |
Missense |
10/18 |
- |
1 |
19-11224279-C-G |
c.1427C>G |
p.Pro476Arg |
Missense |
10/18 |
- |
1 |
19-11224284-G-A |
c.1432G>A |
p.Gly478Arg |
Missense |
10/18 |
- |
4 |
19-11224285-G-A |
c.1433G>A |
p.Gly478Glu |
Missense |
10/18 |
- |
1 |
19-11224288-T-A |
c.1436T>A |
p.Leu479Gln |
Missense |
10/18 |
- |
1 |
19-11224288-T-C |
c.1436T>C |
p.Leu479Pro |
Missense |
10/18 |
- |
2 |
19-11224290-G-A |
c.1438G>A |
p.Ala480Thr |
Missense |
10/18 |
- |
1 |
19-11224291-C-T |
c.1439C>T |
p.Ala480Val |
Missense |
10/18 |
- |
2 |
19-11224296-G-C |
c.1444G>C |
p.Asp482His |
Missense |
10/18 |
- |
2 |
19-11224296-G-A |
c.1444G>A |
p.Asp482Asn |
Missense |
10/18 |
- |
3 |
19-11224300-G-A |
c.1448G>A |
p.Trp483* |
Nonsense |
10/18 |
- |
8 |
19-11224301-G-C |
c.1449G>C |
p.Trp483Cys |
Missense |
10/18 |
- |
1 |
19-11224301-G-T |
c.1449G>T |
p.Trp483Cys |
Missense |
10/18 |
- |
1 |
19-11224312-A-G |
c.1460A>G |
p.Asn487Ser |
Missense |
10/18 |
- |
1 |
19-11224320-T-C |
c.1468T>C |
p.Trp490Arg |
Missense |
10/18 |
- |
2 |
19-11224326-G-A |
c.1474G>A |
p.Asp492Asn |
Missense |
10/18 |
- |
3 |
19-11224330-TCT-T |
c.1478_1479del |
p.Ser493Cysfs*42 |
Frameshift |
10/18 |
- |
2 |
19-11224339-G-T |
c.1487G>T |
p.Gly496Val |
Missense |
10/18 |
- |
1 |
19-11224347-T-C |
c.1495T>C |
p.Ser499Pro |
Missense |
10/18 |
- |
1 |
19-11224348-TCT-T |
c.1496_1497del |
p.Ser499Cysfs*36 |
Frameshift |
10/18 |
- |
1 |
19-11224355-G-A |
c.1503G>A |
p.Ala501Ala |
Synonymous |
10/18 |
- |
1 |
19-11224366-G-A |
c.1514G>A |
p.Gly505Asp |
Missense |
10/18 |
- |
1 |
19-11224368-G-A |
c.1516G>A |
p.Val506Met |
Missense |
10/18 |
- |
1 |
19-11224368-G-GG |
c.1516dup |
p.Val506Glyfs*30 |
Frameshift |
10/18 |
- |
1 |
19-11224371-A-G |
c.1519A>G |
p.Lys507Glu |
Missense |
10/18 |
- |
1 |
19-11224377-A-G |
c.1525A>G |
p.Lys509Glu |
Missense |
10/18 |
- |
2 |
19-11224396-A-G |
c.1544A>G |
p.Asn515Ser |
Missense |
10/18 |
- |
1 |
19-11224397-C-T |
c.1545C>T |
p.Asn515Asn |
Synonymous |
10/18 |
- |
1 |
19-11224398-G-A |
c.1546G>A |
p.Gly516Ser |
Missense |
10/18 |
- |
2 |
19-11224399-G-T |
c.1547G>T |
p.Gly516Val |
Missense |
10/18 |
- |
1 |
19-11224401-CTCCAAGC-C |
c.1549_1555del |
p.Ser517Glnfs*29 |
Frameshift |
10/18 |
- |
1 |
19-11224413-G-C |
c.1561G>C |
p.Ala521Pro |
Missense |
10/18 |
- |
4 |
19-11224419-G-T |
c.1567G>T |
p.Val523Leu |
Missense |
10/18 |
- |
1 |
19-11224419-G-A |
c.1567G>A |
p.Val523Met |
Missense |
10/18 |
- |
7 |
19-11224428-C-T |
c.1576C>T |
p.Pro526Ser |
Missense |
10/18 |
- |
1 |
19-11224429-C-A |
c.1577C>A |
p.Pro526His |
Missense |
10/18 |
- |
1 |
19-11224429-C-G |
c.1577C>G |
p.Pro526Arg |
Missense |
10/18 |
- |
1 |
19-11224438-G-A |
c.1586G>A |
p.Gly529Asp |
Missense |
10/18 |
- |
1 |
19-11224443-G-A |
c.1586+5G>A |
- |
IntronicSNV |
- |
10/17 |
1 |
19-11224491-A-G |
c.1586+53A>G |
- |
IntronicSNV |
- |
10/17 |
1 |
19-11224931-C-T |
c.1586+493C>T |
- |
IntronicSNV |
- |
10/17 |
2 |
19-11226768-A-T |
c.1587-2A>T |
- |
IntronicSNV |
- |
10/17 |
1 |
19-11226769-G-A |
c.1587-1G>A |
- |
IntronicSNV |
- |
10/17 |
1 |
19-11226775-T-A |
c.1592T>A |
p.Met531Lys |
Missense |
11/18 |
- |
2 |
19-11226778-A-G |
c.1595A>G |
p.Tyr532Cys |
Missense |
11/18 |
- |
1 |
19-11226780-T-C |
c.1597T>C |
p.Trp533Arg |
Missense |
11/18 |
- |
3 |
19-11226781-G-A |
c.1598G>A |
p.Trp533* |
Nonsense |
11/18 |
- |
2 |
19-11226782-G-A |
c.1599G>A |
p.Trp533* |
Nonsense |
11/18 |
- |
2 |
19-11226785-T-A |
c.1602T>A |
p.Thr534Thr |
Synonymous |
11/18 |
- |
1 |
19-11226785-T-G |
c.1602T>G |
p.Thr534Thr |
Synonymous |
11/18 |
- |
1 |
19-11226785-T-C |
c.1602T>C |
p.Thr534Thr |
Synonymous |
11/18 |
- |
1 |
19-11226786-G-A |
c.1603G>A |
p.Asp535Asn |
Missense |
11/18 |
- |
1 |
19-11226789-T-G |
c.1606T>G |
p.Trp536Gly |
Missense |
11/18 |
- |
1 |
19-11226793-GG-G |
c.1610del |
p.Gly537Glufs*11 |
Frameshift |
11/18 |
- |
1 |
19-11226800-C-T |
c.1617C>T |
p.Pro539Pro |
Synonymous |
11/18 |
- |
6 |
19-11226801-G-A |
c.1618G>A |
p.Ala540Thr |
Missense |
11/18 |
- |
2 |
19-11226812-AGAAAGGGGGCCTGAATGGTGTGGA-A |
c.1629_1652del |
p.Lys543_Asp551delinsAsn |
MultiAAMissense |
11/18 |
- |
1 |
19-11226813-A-C |
c.1630A>C |
p.Lys544Gln |
Missense |
11/18 |
- |
1 |
19-11226815-AA-A |
c.1632del |
p.Gly546Alafs*2 |
Frameshift |
11/18 |
- |
1 |
19-11226816-G-A |
c.1633G>A |
p.Gly545Arg |
Missense |
11/18 |
- |
1 |
19-11226816-G-T |
c.1633G>T |
p.Gly545Trp |
Missense |
11/18 |
- |
1 |
19-11226817-G-C |
c.1634G>C |
p.Gly545Ala |
Missense |
11/18 |
- |
1 |
19-11226817-G-A |
c.1634G>A |
p.Gly545Glu |
Missense |
11/18 |
- |
1 |
19-11226820-G-A |
c.1637G>A |
p.Gly546Asp |
Missense |
11/18 |
- |
3 |
19-11226822-C-G |
c.1639C>G |
p.Leu547Val |
Missense |
11/18 |
- |
1 |
19-11226822-CT-TA |
c.1639_1640delinsTA |
p.Leu547* |
Nonsense |
11/18 |
- |
1 |
19-11226827-T-G |
c.1644T>G |
p.Asn548Lys |
Missense |
11/18 |
- |
1 |
19-11226829-G-T |
c.1646G>T |
p.Gly549Val |
Missense |
11/18 |
- |
1 |
19-11226829-G-A |
c.1646G>A |
p.Gly549Asp |
Missense |
11/18 |
- |
5 |
19-11226838-AT-A |
c.1655del |
p.Ile552Thrfs*5 |
Frameshift |
11/18 |
- |
1 |
19-11226842-CTC-ATACTTTCA |
c.1659_1661delinsATACTTTCA |
p.Tyr553_Ser554delins* |
MultiAAMissense |
11/18 |
- |
1 |
19-11226844-C-T |
c.1661C>T |
p.Ser554Leu |
Missense |
11/18 |
- |
2 |
19-11226847-T-C |
c.1664T>C |
p.Leu555Pro |
Missense |
11/18 |
- |
2 |
19-11226853-C-G |
c.1670C>G |
p.Thr557Ser |
Missense |
11/18 |
- |
2 |
19-11226868-G-A |
c.1685G>A |
p.Trp562* |
Nonsense |
11/18 |
- |
2 |
19-11226870-C-T |
c.1687C>T |
p.Pro563Ser |
Missense |
11/18 |
- |
1 |
19-11226873-A-C |
c.1690A>C |
p.Asn564His |
Missense |
11/18 |
- |
5 |
19-11226874-A-G |
c.1691A>G |
p.Asn564Ser |
Missense |
11/18 |
- |
4 |
19-11226877-G-C |
c.1694G>C |
p.Gly565Ala |
Missense |
11/18 |
- |
2 |
19-11226877-G-A |
c.1694G>A |
p.Gly565Asp |
Missense |
11/18 |
- |
2 |
19-11226877-G-T |
c.1694G>T |
p.Gly565Val |
Missense |
11/18 |
- |
5 |
19-11226885-C-G |
c.1702C>G |
p.Leu568Val |
Missense |
11/18 |
- |
3 |
19-11226888-G-T |
c.1705G>T |
p.Asp569Tyr |
Missense |
11/18 |
- |
1 |
19-11226944-C-T |
c.1705+56C>T |
- |
IntronicSNV |
- |
11/17 |
1 |
19-11227000-C-G |
c.1705+112C>G |
- |
IntronicSNV |
- |
11/17 |
1 |
19-11227005-T-G |
c.1705+117T>G |
- |
IntronicSNV |
- |
11/17 |
1 |
19-11227070-C-T |
c.1705+182C>T |
- |
IntronicSNV |
- |
11/17 |
1 |
19-11227326-C-A |
c.1706-209C>A |
- |
IntronicSNV |
- |
11/17 |
9 |
19-11227326-C-G |
c.1706-209C>G |
- |
IntronicSNV |
- |
11/17 |
9 |
19-11227466-G-A |
c.1706-69G>A |
- |
IntronicSNV |
- |
11/17 |
1 |
19-11227466-G-T |
c.1706-69G>T |
- |
IntronicSNV |
- |
11/17 |
2 |
19-11227480-A-C |
c.1706-55A>C |
- |
IntronicSNV |
- |
11/17 |
4 |
19-11227525-G-A |
c.1706-10G>A |
- |
IntronicSNV |
- |
11/17 |
4 |
19-11227533-A-T |
c.1706-2A>T |
- |
IntronicSNV |
- |
11/17 |
1 |
19-11227535-A-T |
c.1706A>T |
p.Asp569Val |
Missense |
12/18 |
- |
1 |
19-11227547-GG-G |
c.1718del |
p.Gly573Alafs*92 |
Frameshift |
12/18 |
- |
1 |
19-11227549-C-A |
c.1720C>A |
p.Arg574Ser |
Missense |
12/18 |
- |
3 |
19-11227549-C-T |
c.1720C>T |
p.Arg574Cys |
Missense |
12/18 |
- |
1 |
19-11227550-G-A |
c.1721G>A |
p.Arg574His |
Missense |
12/18 |
- |
1 |
19-11227552-C-T |
c.1723C>T |
p.Leu575Phe |
Missense |
12/18 |
- |
2 |
19-11227554-C-A |
c.1725C>A |
p.Leu575Leu |
Synonymous |
12/18 |
- |
2 |
19-11227554-C-G |
c.1725C>G |
p.Leu575Leu |
Synonymous |
12/18 |
- |
2 |
19-11227554-C-T |
c.1725C>T |
p.Leu575Leu |
Synonymous |
12/18 |
- |
11 |
19-11227556-A-C |
c.1727A>C |
p.Tyr576Ser |
Missense |
12/18 |
- |
1 |
19-11227558-T-C |
c.1729T>C |
p.Trp577Arg |
Missense |
12/18 |
- |
2 |
19-11227558-T-G |
c.1729T>G |
p.Trp577Gly |
Missense |
12/18 |
- |
2 |
19-11227559-G-A |
c.1730G>A |
p.Trp577* |
Nonsense |
12/18 |
- |
1 |
19-11227559-TGGGTTGACT-T |
c.1730_1738del |
p.Trp577_Asp579del |
InFrameDeletion |
12/18 |
- |
1 |
19-11227560-G-T |
c.1731G>T |
p.Trp577Cys |
Missense |
12/18 |
- |
3 |
19-11227560-G-A |
c.1731G>A |
p.Trp577* |
Nonsense |
12/18 |
- |
2 |
19-11227562-T-C |
c.1733T>C |
p.Val578Ala |
Missense |
12/18 |
- |
3 |
19-11227564-G-A |
c.1735G>A |
p.Asp579Asn |
Missense |
12/18 |
- |
1 |
19-11227565-A-G |
c.1736A>G |
p.Asp579Gly |
Missense |
12/18 |
- |
2 |
19-11227566-AC-A |
c.1737del |
p.Ser580Profs*85 |
Frameshift |
12/18 |
- |
1 |
19-11227568-C-T |
c.1739C>T |
p.Ser580Phe |
Missense |
12/18 |
- |
2 |
19-11227573-C-T |
c.1744C>T |
p.Leu582Phe |
Missense |
12/18 |
- |
3 |
19-11227576-C-T |
c.1747C>T |
p.His583Tyr |
Missense |
12/18 |
- |
11 |
19-11227577-A-G |
c.1748A>G |
p.His583Arg |
Missense |
12/18 |
- |
1 |
19-11227578-ACTCCA-A |
c.1749_1753del |
p.Ser584Leufs*17 |
Frameshift |
12/18 |
- |
1 |
19-11227579-T-C |
c.1750T>C |
p.Ser584Pro |
Missense |
12/18 |
- |
1 |
19-11227582-A-C |
c.1753A>C |
p.Ile585Leu |
Missense |
12/18 |
- |
1 |
19-11227583-T-C |
c.1754T>C |
p.Ile585Thr |
Missense |
12/18 |
- |
1 |
19-11227586-C-A |
c.1757C>A |
p.Ser586* |
Nonsense |
12/18 |
- |
3 |
19-11227594-G-T |
c.1765G>T |
p.Asp589Tyr |
Missense |
12/18 |
- |
1 |
19-11227594-G-A |
c.1765G>A |
p.Asp589Asn |
Missense |
12/18 |
- |
3 |
19-11227602-C-T |
c.1773C>T |
p.Asn591Asn |
Synonymous |
12/18 |
- |
72 |
19-11227603-G-A |
c.1774G>A |
p.Gly592Arg |
Missense |
12/18 |
- |
1 |
19-11227603-G-C |
c.1774G>C |
p.Gly592Arg |
Missense |
12/18 |
- |
1 |
19-11227604-GG-AC |
c.1775_1776delinsAC |
p.Gly592Asp |
Missense |
12/18 |
- |
1 |
19-11227604-G-A |
c.1775G>A |
p.Gly592Glu |
Missense |
12/18 |
- |
14 |
19-11227604-G-C |
c.1775G>C |
p.Gly592Ala |
Missense |
12/18 |
- |
1 |
19-11227605-GGGG-G |
c.1776_1778del |
p.Gly593del |
InFrameDeletion |
12/18 |
- |
1 |
19-11227613-G-A |
c.1784G>A |
p.Arg595Gln |
Missense |
12/18 |
- |
1 |
19-11227615-A-G |
c.1786A>G |
p.Lys596Glu |
Missense |
12/18 |
- |
1 |
19-11227622-T-C |
c.1793T>C |
p.Ile598Thr |
Missense |
12/18 |
- |
1 |
19-11227625-T-C |
c.1796T>C |
p.Leu599Ser |
Missense |
12/18 |
- |
1 |
19-11227630-G-T |
c.1801G>T |
p.Asp601Tyr |
Missense |
12/18 |
- |
3 |
19-11227630-G-C |
c.1801G>C |
p.Asp601His |
Missense |
12/18 |
- |
1 |
19-11227642-C-T |
c.1813C>T |
p.Leu605Leu |
Synonymous |
12/18 |
- |
3 |
19-11227645-G-T |
c.1816G>T |
p.Ala606Ser |
Missense |
12/18 |
- |
3 |
19-11227645-G-A |
c.1816G>A |
p.Ala606Thr |
Missense |
12/18 |
- |
3 |
19-11227651-C-A |
c.1822C>A |
p.Pro608Thr |
Missense |
12/18 |
- |
1 |
19-11227652-C-T |
c.1823C>T |
p.Pro608Leu |
Missense |
12/18 |
- |
1 |
19-11227658-C-G |
c.1829C>G |
p.Ser610Cys |
Missense |
12/18 |
- |
1 |
19-11227658-TCCT-T |
c.1829_1831del |
p.Ser610del |
InFrameDeletion |
12/18 |
- |
1 |
19-11227663-G-T |
c.1834G>T |
p.Ala612Ser |
Missense |
12/18 |
- |
1 |
19-11227665-C-T |
c.1836C>T |
p.Ala612Ala |
Synonymous |
12/18 |
- |
1 |
19-11227665-C-A |
c.1836C>A |
p.Ala612Ala |
Synonymous |
12/18 |
- |
1 |
19-11227666-G-A |
c.1837G>A |
p.Val613Ile |
Missense |
12/18 |
- |
1 |
19-11227671-T-TT |
c.1842dup |
p.Glu615* |
Nonsense |
12/18 |
- |
1 |
19-11227672-G-GG |
c.1843dup |
p.Glu615Glyfs*30 |
SpliceDonorInsertion |
12/18 |
- |
1 |
19-11227673-A-T |
c.1844A>T |
p.Glu615Val |
Missense |
12/18 |
- |
1 |
19-11227674-G-A |
c.1845G>A |
p.Glu615Glu |
Synonymous |
12/18 |
- |
1 |
19-11227675-G-A |
c.1845+1G>A |
- |
IntronicSNV |
- |
12/17 |
1 |
19-11227685-C-G |
c.1845+11C>G |
- |
IntronicSNV |
- |
12/17 |
1 |
19-11229968-C-T |
c.1846-800C>T |
- |
IntronicSNV |
- |
12/17 |
3 |
19-11230402-G-T |
c.1846-366G>T |
- |
IntronicSNV |
- |
12/17 |
1 |
19-11230768-G-A |
c.1846G>A |
p.Asp616Asn |
Missense |
13/18 |
- |
2 |
19-11230768-GA-AT |
c.1846_1847delinsAT |
p.Asp616Ile |
Missense |
13/18 |
- |
1 |
19-11230771-A-G |
c.1849A>G |
p.Lys617Glu |
Missense |
13/18 |
- |
1 |
19-11230775-T-G |
c.1853T>G |
p.Val618Gly |
Missense |
13/18 |
- |
1 |
19-11230777-T-C |
c.1855T>C |
p.Phe619Leu |
Missense |
13/18 |
- |
2 |
19-11230777-T-A |
c.1855T>A |
p.Phe619Ile |
Missense |
13/18 |
- |
1 |
19-11230779-T-G |
c.1857T>G |
p.Phe619Leu |
Missense |
13/18 |
- |
2 |
19-11230779-T-A |
c.1857T>A |
p.Phe619Leu |
Missense |
13/18 |
- |
2 |
19-11230778-T-C |
c.1856T>C |
p.Phe619Ser |
Missense |
13/18 |
- |
1 |
19-11230782-G-A |
c.1860G>A |
p.Trp620* |
Nonsense |
13/18 |
- |
1 |
19-11230784-C-G |
c.1862C>G |
p.Thr621Arg |
Missense |
13/18 |
- |
1 |
19-11230786-G-T |
c.1864G>T |
p.Asp622Tyr |
Missense |
13/18 |
- |
3 |
19-11230787-A-G |
c.1865A>G |
p.Asp622Gly |
Missense |
13/18 |
- |
1 |
19-11230789-A-T |
c.1867A>T |
p.Ile623Phe |
Missense |
13/18 |
- |
2 |
19-11230797-C-T |
c.1875C>T |
p.Asn625Asn |
Synonymous |
13/18 |
- |
1 |
19-11230798-G-A |
c.1876G>A |
p.Glu626Lys |
Missense |
13/18 |
- |
1 |
19-11230799-A-G |
c.1877A>G |
p.Glu626Gly |
Missense |
13/18 |
- |
1 |
19-11230800-AA-A |
c.1878del |
p.Ala627Profs*38 |
Frameshift |
13/18 |
- |
1 |
19-11230801-G-A |
c.1879G>A |
p.Ala627Thr |
Missense |
13/18 |
- |
8 |
19-11230807-TTCAG-GATCATCAACC |
c.1885_1889delinsGATCATCAACC |
p.Phe629_Ser630delinsAspHisGlnPro |
MultiAAMissense |
13/18 |
- |
1 |
19-11230808-TT-T |
c.1886del |
p.Phe629Serfs*36 |
Frameshift |
13/18 |
- |
1 |
19-11230817-A-T |
c.1895A>T |
p.Asn632Ile |
Missense |
13/18 |
- |
1 |
19-11230819-C-T |
c.1897C>T |
p.Arg633Cys |
Missense |
13/18 |
- |
3 |
19-11230829-G-C |
c.1907G>C |
p.Gly636Ala |
Missense |
13/18 |
- |
1 |
19-11230829-G-A |
c.1907G>A |
p.Gly636Asp |
Missense |
13/18 |
- |
1 |
19-11230838-T-G |
c.1916T>G |
p.Val639Gly |
Missense |
13/18 |
- |
1 |
19-11230842-C-G |
c.1920C>G |
p.Asn640Lys |
Missense |
13/18 |
- |
1 |
19-11230842-C-T |
c.1920C>T |
p.Asn640Asn |
Synonymous |
13/18 |
- |
3 |
19-11230849-GGCTGAAAACCTACTG-G |
c.1927_1941del |
p.Ala643_Leu647del |
InFrameDeletion |
13/18 |
- |
1 |
19-11230850-C-T |
c.1928C>T |
p.Ala643Val |
Missense |
13/18 |
- |
1 |
19-11230856-A-AA |
c.1934dup |
p.Asn645Lysfs*24 |
Frameshift |
13/18 |
- |
1 |
19-11230856-A-T |
c.1934A>T |
p.Asn645Ile |
Missense |
13/18 |
- |
1 |
19-11230864-T-C |
c.1942T>C |
p.Ser648Pro |
Missense |
13/18 |
- |
3 |
19-11230864-T-G |
c.1942T>G |
p.Ser648Ala |
Missense |
13/18 |
- |
1 |
19-11230867-C-T |
c.1945C>T |
p.Pro649Ser |
Missense |
13/18 |
- |
1 |
19-11230876-TAT-T |
c.1954_1955del |
p.Met652Glyfs*16 |
Frameshift |
13/18 |
- |
1 |
19-11230877-T-C |
c.1955T>C |
p.Met652Thr |
Missense |
13/18 |
- |
1 |
19-11230881-T-C |
c.1959T>C |
p.Val653Val |
Synonymous |
13/18 |
- |
30 |
19-11230881-T-A |
c.1959T>A |
p.Val653Val |
Synonymous |
13/18 |
- |
8 |
19-11230881-T-G |
c.1959T>G |
p.Val653Val |
Synonymous |
13/18 |
- |
8 |
19-11230888-C-A |
c.1966C>A |
p.His656Asn |
Missense |
13/18 |
- |
1 |
19-11230888-CCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAA-C |
c.1967_1987+38del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
13/18 |
13/17 |
1 |
19-11230898-C-A |
c.1976C>A |
p.Thr659Asn |
Missense |
13/18 |
- |
1 |
19-11230899-C-T |
c.1977C>T |
p.Thr659Thr |
Synonymous |
13/18 |
- |
1 |
19-11230899-C-G |
c.1977C>G |
p.Thr659Thr |
Synonymous |
13/18 |
- |
1 |
19-11230899-C-A |
c.1977C>A |
p.Thr659Thr |
Synonymous |
13/18 |
- |
2 |
19-11230901-A-G |
c.1979A>G |
p.Gln660Arg |
Missense |
13/18 |
- |
1 |
19-11231054-CTGGTGTGAGAGGACCAC-C |
c.1996_2012del |
p.Trp666Profs*45 |
Frameshift |
14/18 |
- |
1 |
19-11231055-G-A |
c.1997G>A |
p.Trp666* |
Nonsense |
14/18 |
- |
1 |
19-11231057-TG-AC |
c.1999_2000delinsAC |
p.Cys667Thr |
Missense |
14/18 |
- |
4 |
19-11231058-G-A |
c.2000G>A |
p.Cys667Tyr |
Missense |
14/18 |
- |
2 |
19-11231058-G-T |
c.2000G>T |
p.Cys667Phe |
Missense |
14/18 |
- |
2 |
19-11231059-TG-GT |
c.2001_2002delinsGT |
p.Cys667_Glu668delinsTrp* |
MultiAAMissense |
14/18 |
- |
1 |
19-11231059-T-G |
c.2001T>G |
p.Cys667Trp |
Missense |
14/18 |
- |
1 |
19-11231069-A-G |
c.2011A>G |
p.Thr671Ala |
Missense |
14/18 |
- |
1 |
19-11231079-A-G |
c.2021A>G |
p.Asn674Ser |
Missense |
14/18 |
- |
1 |
19-11231080-T-TT |
c.2022dup |
p.Gly675Trpfs*42 |
Frameshift |
14/18 |
- |
1 |
19-11231083-C-T |
c.2025C>T |
p.Gly675Gly |
Synonymous |
14/18 |
- |
1 |
19-11231083-C-G |
c.2025C>G |
p.Gly675Gly |
Synonymous |
14/18 |
- |
1 |
19-11231083-C-A |
c.2025C>A |
p.Gly675Gly |
Synonymous |
14/18 |
- |
1 |
19-11231084-G-C |
c.2026G>C |
p.Gly676Arg |
Missense |
14/18 |
- |
1 |
19-11231085-GG-G |
c.2027del |
p.Gly676Alafs*33 |
Frameshift |
14/18 |
- |
2 |
19-11231087-T-C |
c.2029T>C |
p.Cys677Arg |
Missense |
14/18 |
- |
1 |
19-11231087-TG-AC |
c.2029_2030delinsAC |
p.Cys677Thr |
Missense |
14/18 |
- |
11 |
19-11231088-TGCCAGTATCTGTG-T |
c.2030_2042del |
p.Cys677Serfs*28 |
Frameshift |
14/18 |
- |
1 |
19-11231088-G-A |
c.2030G>A |
p.Cys677Tyr |
Missense |
14/18 |
- |
2 |
19-11231090-C-T |
c.2032C>T |
p.Gln678* |
Nonsense |
14/18 |
- |
1 |
19-11231096-C-G |
c.2038C>G |
p.Leu680Val |
Missense |
14/18 |
- |
2 |
19-11231097-T-C |
c.2039T>C |
p.Leu680Pro |
Missense |
14/18 |
- |
1 |
19-11231100-G-C |
c.2042G>C |
p.Cys681Ser |
Missense |
14/18 |
- |
1 |
19-11231099-T-A |
c.2041T>A |
p.Cys681Ser |
Missense |
14/18 |
- |
1 |
19-11231099-T-G |
c.2041T>G |
p.Cys681Gly |
Missense |
14/18 |
- |
1 |
19-11231100-G-A |
c.2042G>A |
p.Cys681Tyr |
Missense |
14/18 |
- |
1 |
19-11231101-C-A |
c.2043C>A |
p.Cys681* |
Nonsense |
14/18 |
- |
12 |
19-11231111-C-T |
c.2053C>T |
p.Pro685Ser |
Missense |
14/18 |
- |
2 |
19-11231112-C-T |
c.2054C>T |
p.Pro685Leu |
Missense |
14/18 |
- |
15 |
19-11231112-CC-C |
c.2054del |
p.Pro685Argfs*24 |
Frameshift |
14/18 |
- |
1 |
19-11231133-C-G |
c.2075C>G |
p.Pro692Arg |
Missense |
14/18 |
- |
1 |
19-11231146-C-A |
c.2088C>A |
p.Cys696* |
Nonsense |
14/18 |
- |
1 |
19-11231151-G-T |
c.2093G>T |
p.Cys698Phe |
Missense |
14/18 |
- |
1 |
19-11231151-G-A |
c.2093G>A |
p.Cys698Tyr |
Missense |
14/18 |
- |
2 |
19-11231152-C-G |
c.2094C>G |
p.Cys698Trp |
Missense |
14/18 |
- |
1 |
19-11231154-CC-C |
c.2096del |
p.Pro699Argfs*10 |
Frameshift |
14/18 |
- |
1 |
19-11231154-C-T |
c.2096C>T |
p.Pro699Leu |
Missense |
14/18 |
- |
3 |
19-11231156-G-A |
c.2098G>A |
p.Asp700Asn |
Missense |
14/18 |
- |
1 |
19-11231157-A-G |
c.2099A>G |
p.Asp700Gly |
Missense |
14/18 |
- |
2 |
19-11231158-C-G |
c.2100C>G |
p.Asp700Glu |
Missense |
14/18 |
- |
1 |
19-11231164-G-A |
c.2106G>A |
p.Met702Ile |
Missense |
14/18 |
- |
1 |
19-11231175-G-T |
c.2117G>T |
p.Arg706Met |
Missense |
14/18 |
- |
3 |
19-11231177-G-T |
c.2119G>T |
p.Asp707Tyr |
Missense |
14/18 |
- |
1 |
19-11231189-TG-AC |
c.2131_2132delinsAC |
p.Cys711Thr |
Missense |
14/18 |
- |
2 |
19-11231190-G-A |
c.2132G>A |
p.Cys711Tyr |
Missense |
14/18 |
- |
1 |
19-11231190-G-C |
c.2132G>C |
p.Cys711Ser |
Missense |
14/18 |
- |
1 |
19-11231198-G-C |
c.2140G>C |
p.Glu714Gln |
Missense |
14/18 |
- |
2 |
19-11231199-G-A |
c.2140+1G>A |
- |
IntronicSNV |
- |
14/17 |
1 |
19-11231203-G-A |
c.2140+5G>A |
- |
IntronicSNV |
- |
14/17 |
9 |
19-11231284-C-G |
c.2140+86C>G |
- |
IntronicSNV |
- |
14/17 |
1 |
19-11231301-G-T |
c.2140+103G>T |
- |
IntronicSNV |
- |
14/17 |
1 |
19-11233847-C-A |
c.2141-3C>A |
- |
IntronicSNV |
- |
14/17 |
1 |
19-11233851-G-A |
c.2142G>A |
p.Glu714Glu |
Synonymous |
15/18 |
- |
1 |
19-11233855-G-GG |
c.2146dup |
p.Glu716Glyfs*66 |
Frameshift |
15/18 |
- |
1 |
19-11233876-G-T |
c.2167G>T |
p.Glu723* |
Nonsense |
15/18 |
- |
2 |
19-11233886-C-T |
c.2177C>T |
p.Thr726Ile |
Missense |
15/18 |
- |
12 |
19-11233896-TAAAGGTCAGCT-T |
c.2187_2197del |
p.Lys730Hisfs*48 |
Frameshift |
15/18 |
- |
1 |
19-11233900-GG-G |
c.2191del |
p.Val731Serfs*6 |
Frameshift |
15/18 |
- |
1 |
19-11233909-ACA-TTT |
c.2200_2202delinsTTT |
p.Thr734Phe |
Missense |
15/18 |
- |
2 |
19-11233920-G-T |
c.2211G>T |
p.Arg737Ser |
Missense |
15/18 |
- |
1 |
19-11233939-C-T |
c.2230C>T |
p.Arg744* |
Nonsense |
15/18 |
- |
3 |
19-11233939-C-A |
c.2230C>A |
p.Arg744Arg |
Synonymous |
15/18 |
- |
4 |
19-11233939-CC-C |
c.2230del |
p.Arg744Aspfs*21 |
Frameshift |
15/18 |
- |
1 |
19-11233941-A-C |
c.2232A>C |
p.Arg744Arg |
Synonymous |
15/18 |
- |
4 |
19-11233941-A-T |
c.2232A>T |
p.Arg744Arg |
Synonymous |
15/18 |
- |
4 |
19-11233940-G-A |
c.2231G>A |
p.Arg744Gln |
Missense |
15/18 |
- |
6 |
19-11233941-A-G |
c.2232A>G |
p.Arg744Arg |
Synonymous |
15/18 |
- |
8 |
19-11233961-G-A |
c.2252G>A |
p.Arg751Gln |
Missense |
15/18 |
- |
1 |
19-11233973-GCCACCCCTGG-G |
c.2264_2273del |
p.Ala755Glyfs*7 |
Frameshift |
15/18 |
- |
1 |
19-11233998-G-T |
c.2289G>T |
p.Glu763Asp |
Missense |
15/18 |
- |
3 |
19-11234003-T-G |
c.2294T>G |
p.Val765Gly |
Missense |
15/18 |
- |
1 |
19-11234004-TGACAATGT-T |
c.2295_2302del |
p.Thr766Serfs*13 |
Frameshift |
15/18 |
- |
1 |
19-11234008-AA-A |
c.2299del |
p.Met767Cysfs*21 |
Frameshift |
15/18 |
- |
1 |
19-11234017-C-T |
c.2308C>T |
p.Gln770* |
Nonsense |
15/18 |
- |
1 |
19-11234020-G-A |
c.2311G>A |
p.Ala771Thr |
Missense |
15/18 |
- |
1 |
19-11234021-G-T |
c.2311+1G>T |
- |
IntronicSNV |
- |
15/17 |
1 |
19-11236121-C-T |
c.2311+2101C>T |
- |
IntronicSNV |
- |
15/17 |
1 |
19-11236121-C-G |
c.2311+2101C>G |
- |
IntronicSNV |
- |
15/17 |
1 |
19-11236804-T-C |
c.2312-1880T>C |
- |
IntronicSNV |
- |
15/17 |
2 |
19-11237269-G-A |
c.2312-1415G>A |
- |
IntronicSNV |
- |
15/17 |
1 |
19-11237772-A-G |
c.2312-912A>G |
- |
IntronicSNV |
- |
15/17 |
2 |
19-11238239-C-G |
c.2312-445C>G |
- |
IntronicSNV |
- |
15/17 |
4 |
19-11238473-A-C |
c.2312-211A>C |
- |
IntronicSNV |
- |
15/17 |
5 |
19-11238473-A-T |
c.2312-211A>T |
- |
IntronicSNV |
- |
15/17 |
5 |
19-11238473-A-G |
c.2312-211A>G |
- |
IntronicSNV |
- |
15/17 |
5 |
19-11238548-A-T |
c.2312-136A>T |
- |
IntronicSNV |
- |
15/17 |
2 |
19-11238548-A-G |
c.2312-136A>G |
- |
IntronicSNV |
- |
15/17 |
2 |
19-11238681-C-A |
c.2312-3C>A |
- |
IntronicSNV |
- |
15/17 |
2 |
19-11238690-GG-G |
c.2318del |
p.Gly773Alafs*15 |
Frameshift |
16/18 |
- |
1 |
19-11238692-G-A |
c.2320G>A |
p.Asp774Asn |
Missense |
16/18 |
- |
1 |
19-11238704-AG-CT |
c.2332_2333inv |
p.Arg778Leu |
Missense |
16/18 |
- |
1 |
19-11238743-TC-CT |
c.2371_2372delinsCT |
p.Ser791Leu |
Missense |
16/18 |
- |
1 |
19-11238752-C-T |
c.2380C>T |
p.Leu794Phe |
Missense |
16/18 |
- |
1 |
19-11238756-C-T |
c.2384C>T |
p.Pro795Leu |
Missense |
16/18 |
- |
1 |
19-11238758-CATC-C |
c.2386_2388del |
p.Ile796del |
InFrameDeletion |
16/18 |
- |
1 |
19-11238761-G-T |
c.2389G>T |
p.Val797Leu |
Missense |
16/18 |
- |
3 |
19-11238761-G-A |
c.2389G>A |
p.Val797Met |
Missense |
16/18 |
- |
2 |
19-11238775-G-A |
c.2389+14G>A |
- |
IntronicSNV |
- |
16/17 |
1 |
19-11238807-C-T |
c.2389+46C>T |
- |
IntronicSNV |
- |
16/17 |
2 |
19-11238807-C-G |
c.2389+46C>G |
- |
IntronicSNV |
- |
16/17 |
1 |
19-11238877-G-A |
c.2389+116G>A |
- |
IntronicSNV |
- |
16/17 |
1 |
19-11238877-G-T |
c.2389+116G>T |
- |
IntronicSNV |
- |
16/17 |
1 |
19-11240053-G-T |
c.2390-136G>T |
- |
IntronicSNV |
- |
16/17 |
2 |
19-11240053-G-A |
c.2390-136G>A |
- |
IntronicSNV |
- |
16/17 |
2 |
19-11240195-T-G |
c.2396T>G |
p.Leu799Arg |
Missense |
17/18 |
- |
2 |
19-11240196-TCGTCTTCCT-T |
c.2397_2405del |
p.Val800_Leu802del |
InFrameDeletion |
17/18 |
- |
1 |
19-11240212-GG-CT |
c.2413_2414delinsCT |
p.Gly805Leu |
Missense |
17/18 |
- |
1 |
19-11240212-G-A |
c.2413G>A |
p.Gly805Arg |
Missense |
17/18 |
- |
2 |
19-11240213-G-C |
c.2414G>C |
p.Gly805Ala |
Missense |
17/18 |
- |
1 |
19-11240215-G-GG |
c.2416dup |
p.Val806Glyfs*11 |
Frameshift |
17/18 |
- |
2 |
19-11240215-GG-G |
c.2416del |
p.Val806Serfs*123 |
Frameshift |
17/18 |
- |
1 |
19-11240230-A-T |
c.2431A>T |
p.Lys811* |
Nonsense |
17/18 |
- |
3 |
19-11240231-A-G |
c.2432A>G |
p.Lys811Arg |
Missense |
17/18 |
- |
1 |
19-11240236-TG-GC |
c.2437_2438delinsGC |
p.Trp813Ala |
Missense |
17/18 |
- |
1 |
19-11240242-C-T |
c.2443C>T |
p.Leu815Phe |
Missense |
17/18 |
- |
1 |
19-11240245-AA-GC |
c.2446_2447delinsGC |
p.Lys816Ala |
Missense |
17/18 |
- |
1 |
19-11240245-A-T |
c.2446A>T |
p.Lys816* |
Nonsense |
17/18 |
- |
2 |
19-11240248-AA-GC |
c.2449_2450delinsGC |
p.Asn817Ala |
Missense |
17/18 |
- |
1 |
19-11240257-AG-GA |
c.2458_2459delinsGA |
p.Ser820Asp |
Missense |
17/18 |
- |
1 |
19-11240260-ATC-GAG |
c.2461_2463delinsGAG |
p.Ile821Glu |
Missense |
17/18 |
- |
1 |
19-11240266-TT-GC |
c.2467_2468delinsGC |
p.Phe823Ala |
Missense |
17/18 |
- |
1 |
19-11240274-C-A |
c.2475C>A |
p.Asn825Lys |
Missense |
17/18 |
- |
3 |
19-11240275-C-A |
c.2476C>A |
p.Pro826Thr |
Missense |
17/18 |
- |
2 |
19-11240278-G-A |
c.2479G>A |
p.Val827Ile |
Missense |
17/18 |
- |
5 |
19-11240278-G-C |
c.2479G>C |
p.Val827Leu |
Missense |
17/18 |
- |
1 |
19-11240281-T-C |
c.2482T>C |
p.Tyr828His |
Missense |
17/18 |
- |
1 |
19-11240281-T-A |
c.2482T>A |
p.Tyr828Asn |
Missense |
17/18 |
- |
1 |
19-11240282-A-G |
c.2483A>G |
p.Tyr828Cys |
Missense |
17/18 |
- |
4 |
19-11240288-A-G |
c.2489A>G |
p.Lys830Arg |
Missense |
17/18 |
- |
1 |
19-11240294-ACA-A |
c.2495_2496del |
p.Thr832Argfs*3 |
Frameshift |
17/18 |
- |
1 |
19-11240296-G-A |
c.2497G>A |
p.Glu833Lys |
Missense |
17/18 |
- |
1 |
19-11240299-G-GC |
c.2500_2501insC |
p.Asp834Alafs*2 |
Frameshift |
17/18 |
- |
1 |
19-11240301-ATGA-A |
c.2502_2504del |
p.Asp834del |
InFrameDeletion |
17/18 |
- |
1 |
19-11240308-CC-C |
c.2509del |
p.His837Thrfs*92 |
Frameshift |
17/18 |
- |
1 |
19-11240317-CA-GC |
c.2518_2519delinsGC |
p.His840Ala |
Missense |
17/18 |
- |
3 |
19-11240330-G-A |
c.2531G>A |
p.Gly844Asp |
Missense |
17/18 |
- |
2 |
19-11240332-TA-GC |
c.2533_2534delinsGC |
p.Tyr845Ala |
Missense |
17/18 |
- |
1 |
19-11240345-C-A |
c.2546C>A |
p.Ser849* |
Nonsense |
17/18 |
- |
1 |
19-11240351-G-C |
c.2547+5G>C |
- |
IntronicSNV |
- |
17/17 |
1 |
19-11241877-G-A |
c.2548-80G>A |
- |
IntronicSNV |
- |
17/17 |
2 |
19-11241904-G-A |
c.2548-53G>A |
- |
IntronicSNV |
- |
17/17 |
1 |
19-11241915-A-G |
c.2548-42A>G |
- |
IntronicSNV |
- |
17/17 |
12 |
19-11241984-G-A |
c.2575G>A |
p.Val859Met |
Missense |
18/18 |
- |
3 |
19-11242041-G-A |
c.*49G>A |
- |
3-UTRSNV |
18/18 |
- |
1 |
19-11242044-G-A |
c.*52G>A |
- |
3-UTRSNV |
18/18 |
- |
13 |
19-11242133-G-A |
c.*141G>A |
- |
3-UTRSNV |
18/18 |
- |
4 |
19-11242307-G-C |
c.*315G>C |
- |
3-UTRSNV |
18/18 |
- |
6 |
19-11242496-G-A |
c.*504G>A |
- |
3-UTRSNV |
18/18 |
- |
4 |
19-11242658-T-C |
c.*666T>C |
- |
3-UTRSNV |
18/18 |
- |
18 |
19-11242658-T-A |
c.*666T>A |
- |
3-UTRSNV |
18/18 |
- |
18 |
19-11242765-A-G |
c.*773A>G |
- |
3-UTRSNV |
18/18 |
- |
9 |
19-11243160-G-A |
c.*1168G>A |
- |
3-UTRSNV |
18/18 |
- |
1 |
19-11243422-C-T |
c.*1430C>T |
- |
3-UTRSNV |
18/18 |
- |
1 |
19-11243422-C-A |
c.*1430C>A |
- |
3-UTRSNV |
18/18 |
- |
1 |
19-11243445-A-G |
c.*1453A>G |
- |
3-UTRSNV |
18/18 |
- |
9 |
19-11243502-T-C |
c.*1510T>C |
- |
3-UTRSNV |
18/18 |
- |
1 |
19-11243735-C-T |
c.*1743C>T |
- |
3-UTRSNV |
18/18 |
- |
1 |
19-11243735-C-G |
c.*1743C>G |
- |
3-UTRSNV |
18/18 |
- |
1 |