Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.95894991G>ACA386087126CCDC38,SNRPFc.770C>T (p.Ala257Val)
c.286+5810G>A (n.286+5810G>A)
c.278C>T (p.Ala93Val)
c.650C>T (p.Ala217Val)
c.119C>T (p.Ala40Val)
n.1002C>T
 dbSNP gnomAD v4
12g.95894991G>CCA386087127CCDC38,SNRPFc.770C>G (p.Ala257Gly)
c.286+5810G>C (n.286+5810G>C)
c.278C>G (p.Ala93Gly)
c.650C>G (p.Ala217Gly)
c.119C>G (p.Ala40Gly)
n.1002C>G
12g.95894991G=CA2056438785CCDC38,SNRPFc.770C= (p.Ala257=)
c.286+5810G= (n.286+5810G=)
c.278C= (p.Ala93=)
c.650C= (p.Ala217=)
c.119C= (p.Ala40=)
n.1002C=
12g.95894991G>TCA386087128CCDC38,SNRPFc.770C>A (p.Ala257Glu)
c.286+5810G>T (n.286+5810G>T)
c.278C>A (p.Ala93Glu)
c.650C>A (p.Ala217Glu)
c.119C>A (p.Ala40Glu)
n.1002C>A
 gnomAD v4
12g.95894992C>ACA386087129CCDC38,SNRPFc.769G>T (p.Ala257Ser)
c.286+5811C>A (n.286+5811C>A)
c.277G>T (p.Ala93Ser)
c.649G>T (p.Ala217Ser)
c.118G>T (p.Ala40Ser)
n.1001G>T
12g.95894992C>GCA386087130CCDC38,SNRPFc.769G>C (p.Ala257Pro)
c.286+5811C>G (n.286+5811C>G)
c.277G>C (p.Ala93Pro)
c.649G>C (p.Ala217Pro)
c.118G>C (p.Ala40Pro)
n.1001G>C
12g.95894992C>TCA386087131CCDC38,SNRPFc.769G>A (p.Ala257Thr)
c.286+5811C>T (n.286+5811C>T)
c.277G>A (p.Ala93Thr)
c.649G>A (p.Ala217Thr)
c.118G>A (p.Ala40Thr)
n.1001G>A
12g.95894993T>ACA386087132CCDC38,SNRPFc.768A>T (p.Leu256Phe)
c.286+5812T>A (n.286+5812T>A)
c.276A>T (p.Leu92Phe)
c.648A>T (p.Leu216Phe)
c.117A>T (p.Leu39Phe)
n.1000A>T
12g.95894993T>CCA481431658CCDC38,SNRPFc.768A>G (p.Leu256=)
c.286+5812T>C (n.286+5812T>C)
c.276A>G (p.Leu92=)
c.648A>G (p.Leu216=)
c.117A>G (p.Leu39=)
n.1000A>G
12g.95894993T>GCA386087133CCDC38,SNRPFc.768A>C (p.Leu256Phe)
c.286+5812T>G (n.286+5812T>G)
c.276A>C (p.Leu92Phe)
c.648A>C (p.Leu216Phe)
c.117A>C (p.Leu39Phe)
n.1000A>C
12g.95894994A>CCA386087134CCDC38,SNRPFc.767T>G (p.Leu256Ter)
c.286+5813A>C (n.286+5813A>C)
c.275T>G (p.Leu92Ter)
c.647T>G (p.Leu216Ter)
c.116T>G (p.Leu39Ter)
n.999T>G
12g.95894994A>GCA386087135CCDC38,SNRPFc.767T>C (p.Leu256Ser)
c.286+5813A>G (n.286+5813A>G)
c.275T>C (p.Leu92Ser)
c.647T>C (p.Leu216Ser)
c.116T>C (p.Leu39Ser)
n.999T>C
12g.95894994A>TCA386087136CCDC38,SNRPFc.767T>A (p.Leu256Ter)
c.286+5813A>T (n.286+5813A>T)
c.275T>A (p.Leu92Ter)
c.647T>A (p.Leu216Ter)
c.116T>A (p.Leu39Ter)
n.999T>A
12g.95894995A>CCA386087137CCDC38,SNRPFc.766T>G (p.Leu256Val)
c.286+5814A>C (n.286+5814A>C)
c.274T>G (p.Leu92Val)
c.646T>G (p.Leu216Val)
c.115T>G (p.Leu39Val)
n.998T>G
12g.95894995A>GCA481431659CCDC38,SNRPFc.766T>C (p.Leu256=)
c.286+5814A>G (n.286+5814A>G)
c.274T>C (p.Leu92=)
c.646T>C (p.Leu216=)
c.115T>C (p.Leu39=)
n.998T>C
 gnomAD v3 gnomAD v4
12g.95894995A>TCA386087138CCDC38,SNRPFc.766T>A (p.Leu256Ile)
c.286+5814A>T (n.286+5814A>T)
c.274T>A (p.Leu92Ile)
c.646T>A (p.Leu216Ile)
c.115T>A (p.Leu39Ile)
n.998T>A
12g.95894996T>ACA481431660CCDC38,SNRPFc.765A>T (p.Ile255=)
c.286+5815T>A (n.286+5815T>A)
c.273A>T (p.Ile91=)
c.645A>T (p.Ile215=)
c.114A>T (p.Ile38=)
n.997A>T
12g.95894996T>CCA386087139CCDC38,SNRPFc.765A>G (p.Ile255Met)
c.286+5815T>C (n.286+5815T>C)
c.273A>G (p.Ile91Met)
c.645A>G (p.Ile215Met)
c.114A>G (p.Ile38Met)
n.997A>G
12g.95894996T>GCA481431661CCDC38,SNRPFc.765A>C (p.Ile255=)
c.286+5815T>G (n.286+5815T>G)
c.273A>C (p.Ile91=)
c.645A>C (p.Ile215=)
c.114A>C (p.Ile38=)
n.997A>C
12g.95894997A=CA2056438790CCDC38,SNRPFc.764T= (p.Ile255=)
c.286+5816A= (n.286+5816A=)
c.272T= (p.Ile91=)
c.644T= (p.Ile215=)
c.113T= (p.Ile38=)
n.996T=
12g.95894997A>CCA386087140CCDC38,SNRPFc.764T>G (p.Ile255Arg)
c.286+5816A>C (n.286+5816A>C)
c.272T>G (p.Ile91Arg)
c.644T>G (p.Ile215Arg)
c.113T>G (p.Ile38Arg)
n.996T>G
12g.95894997A>GCA386087141CCDC38,SNRPFc.764T>C (p.Ile255Thr)
c.286+5816A>G (n.286+5816A>G)
c.272T>C (p.Ile91Thr)
c.644T>C (p.Ile215Thr)
c.113T>C (p.Ile38Thr)
n.996T>C
 dbSNP gnomAD v3 gnomAD v4
12g.95894997A>TCA386087142CCDC38,SNRPFc.764T>A (p.Ile255Lys)
c.286+5816A>T (n.286+5816A>T)
c.272T>A (p.Ile91Lys)
c.644T>A (p.Ile215Lys)
c.113T>A (p.Ile38Lys)
n.996T>A
12g.95894998T>ACA386087143CCDC38,SNRPFc.763A>T (p.Ile255Leu)
c.286+5817T>A (n.286+5817T>A)
c.271A>T (p.Ile91Leu)
c.643A>T (p.Ile215Leu)
c.112A>T (p.Ile38Leu)
n.995A>T
12g.95894998T>CCA386087144CCDC38,SNRPFc.763A>G (p.Ile255Val)
c.286+5817T>C (n.286+5817T>C)
c.271A>G (p.Ile91Val)
c.643A>G (p.Ile215Val)
c.112A>G (p.Ile38Val)
n.995A>G
12g.95894998T>GCA386087145CCDC38,SNRPFc.763A>C (p.Ile255Leu)
c.286+5817T>G (n.286+5817T>G)
c.271A>C (p.Ile91Leu)
c.643A>C (p.Ile215Leu)
c.112A>C (p.Ile38Leu)
n.995A>C
 dbSNP
12g.95895002delCA2575251927CCDC38,SNRPFc.763del (p.Ile255TyrfsTer2)
c.286+5821del (n.286+5821del)
c.271del (p.Ile91TyrfsTer2)
c.643del (p.Ile215TyrfsTer2)
c.112del (p.Ile38TyrfsTer2)
n.995del
 gnomAD v4
12g.95894999T>ACA386087146CCDC38,SNRPFc.762A>T (p.Lys254Asn)
c.286+5818T>A (n.286+5818T>A)
c.270A>T (p.Lys90Asn)
c.642A>T (p.Lys214Asn)
c.111A>T (p.Lys37Asn)
n.994A>T
12g.95894999T>CCA481431662CCDC38,SNRPFc.762A>G (p.Lys254=)
c.286+5818T>C (n.286+5818T>C)
c.270A>G (p.Lys90=)
c.642A>G (p.Lys214=)
c.111A>G (p.Lys37=)
n.994A>G
12g.95894999T>GCA386087147CCDC38,SNRPFc.762A>C (p.Lys254Asn)
c.286+5818T>G (n.286+5818T>G)
c.270A>C (p.Lys90Asn)
c.642A>C (p.Lys214Asn)
c.111A>C (p.Lys37Asn)
n.994A>C
12g.95895000T>ACA386087148CCDC38,SNRPFc.761A>T (p.Lys254Ile)
c.286+5819T>A (n.286+5819T>A)
c.269A>T (p.Lys90Ile)
c.641A>T (p.Lys214Ile)
c.110A>T (p.Lys37Ile)
n.993A>T
12g.95895000T>CCA386087150CCDC38,SNRPFc.761A>G (p.Lys254Arg)
c.286+5819T>C (n.286+5819T>C)
c.269A>G (p.Lys90Arg)
c.641A>G (p.Lys214Arg)
c.110A>G (p.Lys37Arg)
n.993A>G
12g.95895000T>GCA386087149CCDC38,SNRPFc.761A>C (p.Lys254Thr)
c.286+5819T>G (n.286+5819T>G)
c.269A>C (p.Lys90Thr)
c.641A>C (p.Lys214Thr)
c.110A>C (p.Lys37Thr)
n.993A>C
12g.95895001T>ACA386087151CCDC38,SNRPFc.760A>T (p.Lys254Ter)
c.286+5820T>A (n.286+5820T>A)
c.268A>T (p.Lys90Ter)
c.640A>T (p.Lys214Ter)
c.109A>T (p.Lys37Ter)
n.992A>T
12g.95895001T>CCA386087153CCDC38,SNRPFc.760A>G (p.Lys254Glu)
c.286+5820T>C (n.286+5820T>C)
c.268A>G (p.Lys90Glu)
c.640A>G (p.Lys214Glu)
c.109A>G (p.Lys37Glu)
n.992A>G
 gnomAD v4
12g.95895001T>GCA386087152CCDC38,SNRPFc.760A>C (p.Lys254Gln)
c.286+5820T>G (n.286+5820T>G)
c.268A>C (p.Lys90Gln)
c.640A>C (p.Lys214Gln)
c.109A>C (p.Lys37Gln)
n.992A>C
12g.95895002T>ACA481431663CCDC38,SNRPFc.759A>T (p.Pro253=)
c.286+5821T>A (n.286+5821T>A)
c.267A>T (p.Pro89=)
c.639A>T (p.Pro213=)
c.108A>T (p.Pro36=)
n.991A>T
12g.95895002T>CCA481431664CCDC38,SNRPFc.759A>G (p.Pro253=)
c.286+5821T>C (n.286+5821T>C)
c.267A>G (p.Pro89=)
c.639A>G (p.Pro213=)
c.108A>G (p.Pro36=)
n.991A>G
 gnomAD v4
12g.95895002T>GCA481431665CCDC38,SNRPFc.759A>C (p.Pro253=)
c.286+5821T>G (n.286+5821T>G)
c.267A>C (p.Pro89=)
c.639A>C (p.Pro213=)
c.108A>C (p.Pro36=)
n.991A>C
12g.95895003G>ACA386087154CCDC38,SNRPFc.758C>T (p.Pro253Leu)
c.286+5822G>A (n.286+5822G>A)
c.266C>T (p.Pro89Leu)
c.638C>T (p.Pro213Leu)
c.107C>T (p.Pro36Leu)
n.990C>T
12g.95895003G>CCA386087155CCDC38,SNRPFc.758C>G (p.Pro253Arg)
c.286+5822G>C (n.286+5822G>C)
c.266C>G (p.Pro89Arg)
c.638C>G (p.Pro213Arg)
c.107C>G (p.Pro36Arg)
n.990C>G
12g.95895003G>TCA386087156CCDC38,SNRPFc.758C>A (p.Pro253Gln)
c.286+5822G>T (n.286+5822G>T)
c.266C>A (p.Pro89Gln)
c.638C>A (p.Pro213Gln)
c.107C>A (p.Pro36Gln)
n.990C>A
12g.95895004G>ACA386087157CCDC38,SNRPFc.757C>T (p.Pro253Ser)
c.286+5823G>A (n.286+5823G>A)
c.265C>T (p.Pro89Ser)
c.637C>T (p.Pro213Ser)
c.106C>T (p.Pro36Ser)
n.989C>T
 dbSNP gnomAD v4
12g.95895004G>CCA386087158CCDC38,SNRPFc.757C>G (p.Pro253Ala)
c.286+5823G>C (n.286+5823G>C)
c.265C>G (p.Pro89Ala)
c.637C>G (p.Pro213Ala)
c.106C>G (p.Pro36Ala)
n.989C>G
12g.95895004G=CA2056438792CCDC38,SNRPFc.757C= (p.Pro253=)
c.286+5823G= (n.286+5823G=)
c.265C= (p.Pro89=)
c.637C= (p.Pro213=)
c.106C= (p.Pro36=)
n.989C=
12g.95895004G>TCA386087159CCDC38,SNRPFc.757C>A (p.Pro253Thr)
c.286+5823G>T (n.286+5823G>T)
c.265C>A (p.Pro89Thr)
c.637C>A (p.Pro213Thr)
c.106C>A (p.Pro36Thr)
n.989C>A
12g.95895005A>CCA481431666CCDC38,SNRPFc.756T>G (p.Leu252=)
c.286+5824A>C (n.286+5824A>C)
c.264T>G (p.Leu88=)
c.636T>G (p.Leu212=)
c.105T>G (p.Leu35=)
n.988T>G
12g.95895005A>GCA481431667CCDC38,SNRPFc.756T>C (p.Leu252=)
c.286+5824A>G (n.286+5824A>G)
c.264T>C (p.Leu88=)
c.636T>C (p.Leu212=)
c.105T>C (p.Leu35=)
n.988T>C
12g.95895005A>TCA481431668CCDC38,SNRPFc.756T>A (p.Leu252=)
c.286+5824A>T (n.286+5824A>T)
c.264T>A (p.Leu88=)
c.636T>A (p.Leu212=)
c.105T>A (p.Leu35=)
n.988T>A
12g.95895006A>CCA386087160CCDC38,SNRPFc.755T>G (p.Leu252Arg)
c.286+5825A>C (n.286+5825A>C)
c.263T>G (p.Leu88Arg)
c.635T>G (p.Leu212Arg)
c.104T>G (p.Leu35Arg)
n.987T>G
12g.95895006A>GCA386087161CCDC38,SNRPFc.755T>C (p.Leu252Pro)
c.286+5825A>G (n.286+5825A>G)
c.263T>C (p.Leu88Pro)
c.635T>C (p.Leu212Pro)
c.104T>C (p.Leu35Pro)
n.987T>C
12g.95895006A>TCA386087162CCDC38,SNRPFc.755T>A (p.Leu252His)
c.286+5825A>T (n.286+5825A>T)
c.263T>A (p.Leu88His)
c.635T>A (p.Leu212His)
c.104T>A (p.Leu35His)
n.987T>A
12g.95895007G>ACA386087163CCDC38,SNRPFc.754C>T (p.Leu252Phe)
c.286+5826G>A (n.286+5826G>A)
c.262C>T (p.Leu88Phe)
c.634C>T (p.Leu212Phe)
c.103C>T (p.Leu35Phe)
n.986C>T
 gnomAD v4
12g.95895007G>CCA386087164CCDC38,SNRPFc.754C>G (p.Leu252Val)
c.286+5826G>C (n.286+5826G>C)
c.262C>G (p.Leu88Val)
c.634C>G (p.Leu212Val)
c.103C>G (p.Leu35Val)
n.986C>G
12g.95895007G>TCA386087165CCDC38,SNRPFc.754C>A (p.Leu252Ile)
c.286+5826G>T (n.286+5826G>T)
c.262C>A (p.Leu88Ile)
c.634C>A (p.Leu212Ile)
c.103C>A (p.Leu35Ile)
n.986C>A
12g.95895007_95895010delinsGGATCA2056438794CCDC38,SNRPFc.751_754delinsATCC (p.Ile251=)
c.286+5826_286+5829delinsGGAT (n.286+5826_286+5829delinsGGAT)
c.259_262delinsATCC (p.Ile87=)
c.631_634delinsATCC (p.Ile211=)
c.100_103delinsATCC (p.Ile34=)
n.983_986delinsATCC
12g.95895008G>ACA481431669CCDC38,SNRPFc.753C>T (p.Ile251=)
c.286+5827G>A (n.286+5827G>A)
c.261C>T (p.Ile87=)
c.633C>T (p.Ile211=)
c.102C>T (p.Ile34=)
n.985C>T
12g.95895008G>CCA386087166CCDC38,SNRPFc.753C>G (p.Ile251Met)
c.286+5827G>C (n.286+5827G>C)
c.261C>G (p.Ile87Met)
c.633C>G (p.Ile211Met)
c.102C>G (p.Ile34Met)
n.985C>G
 dbSNP gnomAD v3 gnomAD v4
12g.95895008G=CA2056438800CCDC38,SNRPFc.753C= (p.Ile251=)
c.286+5827G= (n.286+5827G=)
c.261C= (p.Ile87=)
c.633C= (p.Ile211=)
c.102C= (p.Ile34=)
n.985C=
12g.95895008G>TCA481431670CCDC38,SNRPFc.753C>A (p.Ile251=)
c.286+5827G>T (n.286+5827G>T)
c.261C>A (p.Ile87=)
c.633C>A (p.Ile211=)
c.102C>A (p.Ile34=)
n.985C>A
12g.95895011_95895013dupCA241427805CCDC38,SNRPFc.751_753dup (p.Ile251_Leu252insIle)
c.286+5830_286+5832dup (n.286+5830_286+5832dup)
c.259_261dup (p.Ile87_Leu88insIle)
c.631_633dup (p.Ile211_Leu212insIle)
c.100_102dup (p.Ile34_Leu35insIle)
n.983_985dup
 dbSNP
12g.95895011_95895013delCA607144206CCDC38,SNRPFc.751_753del (p.Ile251del)
c.286+5830_286+5832del (n.286+5830_286+5832del)
c.259_261del (p.Ile87del)
c.631_633del (p.Ile211del)
c.100_102del (p.Ile34del)
n.983_985del
 dbSNP gnomAD v2
12g.95895009A>CCA386087167CCDC38,SNRPFc.752T>G (p.Ile251Ser)
c.286+5828A>C (n.286+5828A>C)
c.260T>G (p.Ile87Ser)
c.632T>G (p.Ile211Ser)
c.101T>G (p.Ile34Ser)
n.984T>G
12g.95895009A>GCA386087168CCDC38,SNRPFc.752T>C (p.Ile251Thr)
c.286+5828A>G (n.286+5828A>G)
c.260T>C (p.Ile87Thr)
c.632T>C (p.Ile211Thr)
c.101T>C (p.Ile34Thr)
n.984T>C
 gnomAD v3 gnomAD v4
12g.95895009A>TCA386087169CCDC38,SNRPFc.752T>A (p.Ile251Asn)
c.286+5828A>T (n.286+5828A>T)
c.260T>A (p.Ile87Asn)
c.632T>A (p.Ile211Asn)
c.101T>A (p.Ile34Asn)
n.984T>A
12g.95895010T>ACA386087170CCDC38,SNRPFc.751A>T (p.Ile251Phe)
c.286+5829T>A (n.286+5829T>A)
c.259A>T (p.Ile87Phe)
c.631A>T (p.Ile211Phe)
c.100A>T (p.Ile34Phe)
n.983A>T
12g.95895010T>CCA386087171CCDC38,SNRPFc.751A>G (p.Ile251Val)
c.286+5829T>C (n.286+5829T>C)
c.259A>G (p.Ile87Val)
c.631A>G (p.Ile211Val)
c.100A>G (p.Ile34Val)
n.983A>G
12g.95895010T>GCA386087172CCDC38,SNRPFc.751A>C (p.Ile251Leu)
c.286+5829T>G (n.286+5829T>G)
c.259A>C (p.Ile87Leu)
c.631A>C (p.Ile211Leu)
c.100A>C (p.Ile34Leu)
n.983A>C
 gnomAD v4
12g.95895010_95895011insCTAAACTAACA2527177527CCDC38,SNRPFc.750_751insTTAGTTTAG
c.286+5829_286+5830insCTAAACTAA (n.286+5829_286+5830insCTAAACTAA)
c.258_259insTTAGTTTAG
c.630_631insTTAGTTTAG
c.99_100insTTAGTTTAG
n.982_983insTTAGTTTAG
12g.95895011G>ACA481431671CCDC38,SNRPFc.750C>T (p.Ile250=)
c.286+5830G>A (n.286+5830G>A)
c.258C>T (p.Ile86=)
c.630C>T (p.Ile210=)
c.99C>T (p.Ile33=)
n.982C>T
12g.95895011G>CCA386087173CCDC38,SNRPFc.750C>G (p.Ile250Met)
c.286+5830G>C (n.286+5830G>C)
c.258C>G (p.Ile86Met)
c.630C>G (p.Ile210Met)
c.99C>G (p.Ile33Met)
n.982C>G
 gnomAD v4
12g.95895011G>TCA481431672CCDC38,SNRPFc.750C>A (p.Ile250=)
c.286+5830G>T (n.286+5830G>T)
c.258C>A (p.Ile86=)
c.630C>A (p.Ile210=)
c.99C>A (p.Ile33=)
n.982C>A
12g.95895012A>CCA386087174CCDC38,SNRPFc.749T>G (p.Ile250Ser)
c.286+5831A>C (n.286+5831A>C)
c.257T>G (p.Ile86Ser)
c.629T>G (p.Ile210Ser)
c.98T>G (p.Ile33Ser)
n.981T>G
12g.95895012A>GCA386087175CCDC38,SNRPFc.749T>C (p.Ile250Thr)
c.286+5831A>G (n.286+5831A>G)
c.257T>C (p.Ile86Thr)
c.629T>C (p.Ile210Thr)
c.98T>C (p.Ile33Thr)
n.981T>C
12g.95895012A>TCA386087176CCDC38,SNRPFc.749T>A (p.Ile250Asn)
c.286+5831A>T (n.286+5831A>T)
c.257T>A (p.Ile86Asn)
c.629T>A (p.Ile210Asn)
c.98T>A (p.Ile33Asn)
n.981T>A
12g.95895013_95895014insTTTCACTATCTCTGTTATTGTATCA2519285832CCDC38,SNRPFc.749_750insACAATAACAGAGATAGTGAAAAT (p.Ile251GlnfsTer2)
c.286+5832_286+5833insTTTCACTATCTCTGTTATTGTAT (n.286+5832_286+5833insTTTCACTATCTCTGTTATTGTAT)
c.257_258insACAATAACAGAGATAGTGAAAAT (p.Ile87GlnfsTer2)
c.629_630insACAATAACAGAGATAGTGAAAAT (p.Ile211GlnfsTer2)
c.98_99insACAATAACAGAGATAGTGAAAAT (p.Ile34GlnfsTer2)
n.981_982insACAATAACAGAGATAGTGAAAAT
12g.95895013T>ACA386087177CCDC38,SNRPFc.748A>T (p.Ile250Phe)
c.286+5832T>A (n.286+5832T>A)
c.256A>T (p.Ile86Phe)
c.628A>T (p.Ile210Phe)
c.97A>T (p.Ile33Phe)
n.980A>T
12g.95895013T>CCA386087179CCDC38,SNRPFc.748A>G (p.Ile250Val)
c.286+5832T>C (n.286+5832T>C)
c.256A>G (p.Ile86Val)
c.628A>G (p.Ile210Val)
c.97A>G (p.Ile33Val)
n.980A>G
 COSMIC
12g.95895013T>GCA386087178CCDC38,SNRPFc.748A>C (p.Ile250Leu)
c.286+5832T>G (n.286+5832T>G)
c.256A>C (p.Ile86Leu)
c.628A>C (p.Ile210Leu)
c.97A>C (p.Ile33Leu)
n.980A>C
12g.95895014A=CA2056438804CCDC38,SNRPFc.747T= (p.Asn249=)
c.286+5833A= (n.286+5833A=)
c.255T= (p.Asn85=)
c.627T= (p.Asn209=)
c.96T= (p.Asn32=)
n.979T=
12g.95895014A>CCA386087180CCDC38,SNRPFc.747T>G (p.Asn249Lys)
c.286+5833A>C (n.286+5833A>C)
c.255T>G (p.Asn85Lys)
c.627T>G (p.Asn209Lys)
c.96T>G (p.Asn32Lys)
n.979T>G
12g.95895014A>GCA6726669CCDC38,SNRPFc.747T>C (p.Asn249=)
c.286+5833A>G (n.286+5833A>G)
c.255T>C (p.Asn85=)
c.627T>C (p.Asn209=)
c.96T>C (p.Asn32=)
n.979T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.95895014A>TCA386087181CCDC38,SNRPFc.747T>A (p.Asn249Lys)
c.286+5833A>T (n.286+5833A>T)
c.255T>A (p.Asn85Lys)
c.627T>A (p.Asn209Lys)
c.96T>A (p.Asn32Lys)
n.979T>A
12g.95895015T>ACA386087182CCDC38,SNRPFc.746A>T (p.Asn249Ile)
c.286+5834T>A (n.286+5834T>A)
c.254A>T (p.Asn85Ile)
c.626A>T (p.Asn209Ile)
c.95A>T (p.Asn32Ile)
n.978A>T
12g.95895015T>CCA386087183CCDC38,SNRPFc.746A>G (p.Asn249Ser)
c.286+5834T>C (n.286+5834T>C)
c.254A>G (p.Asn85Ser)
c.626A>G (p.Asn209Ser)
c.95A>G (p.Asn32Ser)
n.978A>G
12g.95895015T>GCA386087184CCDC38,SNRPFc.746A>C (p.Asn249Thr)
c.286+5834T>G (n.286+5834T>G)
c.254A>C (p.Asn85Thr)
c.626A>C (p.Asn209Thr)
c.95A>C (p.Asn32Thr)
n.978A>C
12g.95895016T>ACA386087185CCDC38,SNRPFc.745A>T (p.Asn249Tyr)
c.286+5835T>A (n.286+5835T>A)
c.253A>T (p.Asn85Tyr)
c.625A>T (p.Asn209Tyr)
c.94A>T (p.Asn32Tyr)
n.977A>T
12g.95895016T>CCA386087186CCDC38,SNRPFc.745A>G (p.Asn249Asp)
c.286+5835T>C (n.286+5835T>C)
c.253A>G (p.Asn85Asp)
c.625A>G (p.Asn209Asp)
c.94A>G (p.Asn32Asp)
n.977A>G
 gnomAD v4
12g.95895016T>GCA386087187CCDC38,SNRPFc.745A>C (p.Asn249His)
c.286+5835T>G (n.286+5835T>G)
c.253A>C (p.Asn85His)
c.625A>C (p.Asn209His)
c.94A>C (p.Asn32His)
n.977A>C
 gnomAD v4
12g.95895017T>ACA481431673CCDC38,SNRPFc.744A>T (p.Ala248=)
c.286+5836T>A (n.286+5836T>A)
c.252A>T (p.Ala84=)
c.624A>T (p.Ala208=)
c.93A>T (p.Ala31=)
n.976A>T
12g.95895017T>CCA481431674CCDC38,SNRPFc.744A>G (p.Ala248=)
c.286+5836T>C (n.286+5836T>C)
c.252A>G (p.Ala84=)
c.624A>G (p.Ala208=)
c.93A>G (p.Ala31=)
n.976A>G
12g.95895017T>GCA481431675CCDC38,SNRPFc.744A>C (p.Ala248=)
c.286+5836T>G (n.286+5836T>G)
c.252A>C (p.Ala84=)
c.624A>C (p.Ala208=)
c.93A>C (p.Ala31=)
n.976A>C
12g.95895018G>ACA386087190CCDC38,SNRPFc.743C>T (p.Ala248Val)
c.286+5837G>A (n.286+5837G>A)
c.251C>T (p.Ala84Val)
c.623C>T (p.Ala208Val)
c.92C>T (p.Ala31Val)
n.975C>T
 dbSNP gnomAD v2 gnomAD v4
12g.95895018G>CCA386087188CCDC38,SNRPFc.743C>G (p.Ala248Gly)
c.286+5837G>C (n.286+5837G>C)
c.251C>G (p.Ala84Gly)
c.623C>G (p.Ala208Gly)
c.92C>G (p.Ala31Gly)
n.975C>G
12g.95895018G=CA2056438807CCDC38,SNRPFc.743C= (p.Ala248=)
c.286+5837G= (n.286+5837G=)
c.251C= (p.Ala84=)
c.623C= (p.Ala208=)
c.92C= (p.Ala31=)
n.975C=
12g.95895018G>TCA386087189CCDC38,SNRPFc.743C>A (p.Ala248Glu)
c.286+5837G>T (n.286+5837G>T)
c.251C>A (p.Ala84Glu)
c.623C>A (p.Ala208Glu)
c.92C>A (p.Ala31Glu)
n.975C>A
12g.95895019C>ACA386087191CCDC38,SNRPFc.742G>T (p.Ala248Ser)
c.286+5838C>A (n.286+5838C>A)
c.250G>T (p.Ala84Ser)
c.622G>T (p.Ala208Ser)
c.91G>T (p.Ala31Ser)
n.974G>T
12g.95895019C>GCA386087192CCDC38,SNRPFc.742G>C (p.Ala248Pro)
c.286+5838C>G (n.286+5838C>G)
c.250G>C (p.Ala84Pro)
c.622G>C (p.Ala208Pro)
c.91G>C (p.Ala31Pro)
n.974G>C
12g.95895019C>TCA386087193CCDC38,SNRPFc.742G>A (p.Ala248Thr)
c.286+5838C>T (n.286+5838C>T)
c.250G>A (p.Ala84Thr)
c.622G>A (p.Ala208Thr)
c.91G>A (p.Ala31Thr)
n.974G>A
12g.95895020T>ACA386087194CCDC38,SNRPFc.741A>T (p.Lys247Asn)
c.286+5839T>A (n.286+5839T>A)
c.249A>T (p.Lys83Asn)
c.621A>T (p.Lys207Asn)
c.90A>T (p.Lys30Asn)
n.973A>T
12g.95895020T>CCA481431676CCDC38,SNRPFc.741A>G (p.Lys247=)
c.286+5839T>C (n.286+5839T>C)
c.249A>G (p.Lys83=)
c.621A>G (p.Lys207=)
c.90A>G (p.Lys30=)
n.973A>G
12g.95895020T>GCA386087195CCDC38,SNRPFc.741A>C (p.Lys247Asn)
c.286+5839T>G (n.286+5839T>G)
c.249A>C (p.Lys83Asn)
c.621A>C (p.Lys207Asn)
c.90A>C (p.Lys30Asn)
n.973A>C
12g.95895021T>ACA386087196CCDC38,SNRPFc.740A>T (p.Lys247Ile)
c.286+5840T>A (n.286+5840T>A)
c.248A>T (p.Lys83Ile)
c.620A>T (p.Lys207Ile)
c.89A>T (p.Lys30Ile)
n.972A>T
12g.95895021T>CCA386087197CCDC38,SNRPFc.740A>G (p.Lys247Arg)
c.286+5840T>C (n.286+5840T>C)
c.248A>G (p.Lys83Arg)
c.620A>G (p.Lys207Arg)
c.89A>G (p.Lys30Arg)
n.972A>G
 dbSNP gnomAD v3 gnomAD v4
12g.95895021T>GCA386087198CCDC38,SNRPFc.740A>C (p.Lys247Thr)
c.286+5840T>G (n.286+5840T>G)
c.248A>C (p.Lys83Thr)
c.620A>C (p.Lys207Thr)
c.89A>C (p.Lys30Thr)
n.972A>C
12g.95895021T=CA2056438809CCDC38,SNRPFc.740A= (p.Lys247=)
c.286+5840T= (n.286+5840T=)
c.248A= (p.Lys83=)
c.620A= (p.Lys207=)
c.89A= (p.Lys30=)
n.972A=
12g.95895022T>ACA386087200CCDC38,SNRPFc.739A>T (p.Lys247Ter)
c.286+5841T>A (n.286+5841T>A)
c.247A>T (p.Lys83Ter)
c.619A>T (p.Lys207Ter)
c.88A>T (p.Lys30Ter)
n.971A>T
12g.95895022T>CCA386087201CCDC38,SNRPFc.739A>G (p.Lys247Glu)
c.286+5841T>C (n.286+5841T>C)
c.247A>G (p.Lys83Glu)
c.619A>G (p.Lys207Glu)
c.88A>G (p.Lys30Glu)
n.971A>G
12g.95895022T>GCA386087199CCDC38,SNRPFc.739A>C (p.Lys247Gln)
c.286+5841T>G (n.286+5841T>G)
c.247A>C (p.Lys83Gln)
c.619A>C (p.Lys207Gln)
c.88A>C (p.Lys30Gln)
n.971A>C
12g.95895023A=CA2056438815CCDC38,SNRPFc.738T= (p.Ser246=)
c.286+5842A= (n.286+5842A=)
c.246T= (p.Ser82=)
c.618T= (p.Ser206=)
c.87T= (p.Ser29=)
n.970T=
12g.95895023A>CCA6726670CCDC38,SNRPFc.738T>G (p.Ser246Arg)
c.286+5842A>C (n.286+5842A>C)
c.246T>G (p.Ser82Arg)
c.618T>G (p.Ser206Arg)
c.87T>G (p.Ser29Arg)
n.970T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.95895023A>GCA481431677CCDC38,SNRPFc.738T>C (p.Ser246=)
c.286+5842A>G (n.286+5842A>G)
c.246T>C (p.Ser82=)
c.618T>C (p.Ser206=)
c.87T>C (p.Ser29=)
n.970T>C
 dbSNP
12g.95895023A>TCA386087202CCDC38,SNRPFc.738T>A (p.Ser246Arg)
c.286+5842A>T (n.286+5842A>T)
c.246T>A (p.Ser82Arg)
c.618T>A (p.Ser206Arg)
c.87T>A (p.Ser29Arg)
n.970T>A
12g.95895024C>ACA386087203CCDC38,SNRPFc.737G>T (p.Ser246Ile)
c.286+5843C>A (n.286+5843C>A)
c.245G>T (p.Ser82Ile)
c.617G>T (p.Ser206Ile)
c.86G>T (p.Ser29Ile)
n.969G>T
12g.95895024C>GCA386087204CCDC38,SNRPFc.737G>C (p.Ser246Thr)
c.286+5843C>G (n.286+5843C>G)
c.245G>C (p.Ser82Thr)
c.617G>C (p.Ser206Thr)
c.86G>C (p.Ser29Thr)
n.969G>C
12g.95895024C>TCA386087205CCDC38,SNRPFc.737G>A (p.Ser246Asn)
c.286+5843C>T (n.286+5843C>T)
c.245G>A (p.Ser82Asn)
c.617G>A (p.Ser206Asn)
c.86G>A (p.Ser29Asn)
n.969G>A
12g.95895025T>ACA386087206CCDC38,SNRPFc.736A>T (p.Ser246Cys)
c.286+5844T>A (n.286+5844T>A)
c.244A>T (p.Ser82Cys)
c.616A>T (p.Ser206Cys)
c.85A>T (p.Ser29Cys)
n.968A>T
12g.95895025T>CCA386087207CCDC38,SNRPFc.736A>G (p.Ser246Gly)
c.286+5844T>C (n.286+5844T>C)
c.244A>G (p.Ser82Gly)
c.616A>G (p.Ser206Gly)
c.85A>G (p.Ser29Gly)
n.968A>G
 gnomAD v4
12g.95895025T>GCA386087208CCDC38,SNRPFc.736A>C (p.Ser246Arg)
c.286+5844T>G (n.286+5844T>G)
c.244A>C (p.Ser82Arg)
c.616A>C (p.Ser206Arg)
c.85A>C (p.Ser29Arg)
n.968A>C
12g.95895029delCA2500811619CCDC38,SNRPFc.736del (p.Ser246ValfsTer11)
c.286+5848del (n.286+5848del)
c.244del (p.Ser82ValfsTer11)
c.616del (p.Ser206ValfsTer11)
c.85del (p.Ser29ValfsTer11)
n.968del
 gnomAD v4
12g.95895026T>ACA386087209CCDC38,SNRPFc.735A>T (p.Lys245Asn)
c.286+5845T>A (n.286+5845T>A)
c.243A>T (p.Lys81Asn)
c.615A>T (p.Lys205Asn)
c.84A>T (p.Lys28Asn)
n.967A>T
12g.95895026T>CCA481431678CCDC38,SNRPFc.735A>G (p.Lys245=)
c.286+5845T>C (n.286+5845T>C)
c.243A>G (p.Lys81=)
c.615A>G (p.Lys205=)
c.84A>G (p.Lys28=)
n.967A>G
12g.95895026T>GCA386087210CCDC38,SNRPFc.735A>C (p.Lys245Asn)
c.286+5845T>G (n.286+5845T>G)
c.243A>C (p.Lys81Asn)
c.615A>C (p.Lys205Asn)
c.84A>C (p.Lys28Asn)
n.967A>C
12g.95895027T>ACA386087213CCDC38,SNRPFc.734A>T (p.Lys245Ile)
c.286+5846T>A (n.286+5846T>A)
c.242A>T (p.Lys81Ile)
c.614A>T (p.Lys205Ile)
c.83A>T (p.Lys28Ile)
n.966A>T
12g.95895027T>CCA386087212CCDC38,SNRPFc.734A>G (p.Lys245Arg)
c.286+5846T>C (n.286+5846T>C)
c.242A>G (p.Lys81Arg)
c.614A>G (p.Lys205Arg)
c.83A>G (p.Lys28Arg)
n.966A>G
12g.95895027T>GCA386087211CCDC38,SNRPFc.734A>C (p.Lys245Thr)
c.286+5846T>G (n.286+5846T>G)
c.242A>C (p.Lys81Thr)
c.614A>C (p.Lys205Thr)
c.83A>C (p.Lys28Thr)
n.966A>C
12g.95895028T>ACA386087214CCDC38,SNRPFc.733A>T (p.Lys245Ter)
c.286+5847T>A (n.286+5847T>A)
c.241A>T (p.Lys81Ter)
c.613A>T (p.Lys205Ter)
c.82A>T (p.Lys28Ter)
n.965A>T
12g.95895028T>CCA386087215CCDC38,SNRPFc.733A>G (p.Lys245Glu)
c.286+5847T>C (n.286+5847T>C)
c.241A>G (p.Lys81Glu)
c.613A>G (p.Lys205Glu)
c.82A>G (p.Lys28Glu)
n.965A>G
12g.95895028T>GCA386087216CCDC38,SNRPFc.733A>C (p.Lys245Gln)
c.286+5847T>G (n.286+5847T>G)
c.241A>C (p.Lys81Gln)
c.613A>C (p.Lys205Gln)
c.82A>C (p.Lys28Gln)
n.965A>C
12g.95895029T>ACA6726671CCDC38,SNRPFc.732A>T (p.Ser244=)
c.286+5848T>A (n.286+5848T>A)
c.240A>T (p.Ser80=)
c.612A>T (p.Ser204=)
c.81A>T (p.Ser27=)
n.964A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.95895029T>CCA481431680CCDC38,SNRPFc.732A>G (p.Ser244=)
c.286+5848T>C (n.286+5848T>C)
c.240A>G (p.Ser80=)
c.612A>G (p.Ser204=)
c.81A>G (p.Ser27=)
n.964A>G
12g.95895029T>GCA481431679CCDC38,SNRPFc.732A>C (p.Ser244=)
c.286+5848T>G (n.286+5848T>G)
c.240A>C (p.Ser80=)
c.612A>C (p.Ser204=)
c.81A>C (p.Ser27=)
n.964A>C
12g.95895029T=CA2056438818CCDC38,SNRPFc.732A= (p.Ser244=)
c.286+5848T= (n.286+5848T=)
c.240A= (p.Ser80=)
c.612A= (p.Ser204=)
c.81A= (p.Ser27=)
n.964A=
12g.95895030G>ACA386087217CCDC38,SNRPFc.731C>T (p.Ser244Leu)
c.286+5849G>A (n.286+5849G>A)
c.239C>T (p.Ser80Leu)
c.611C>T (p.Ser204Leu)
c.80C>T (p.Ser27Leu)
n.963C>T
12g.95895030G>CCA386087218CCDC38,SNRPFc.731C>G (p.Ser244Ter)
c.286+5849G>C (n.286+5849G>C)
c.239C>G (p.Ser80Ter)
c.611C>G (p.Ser204Ter)
c.80C>G (p.Ser27Ter)
n.963C>G
12g.95895030G>TCA386087219CCDC38,SNRPFc.731C>A (p.Ser244Ter)
c.286+5849G>T (n.286+5849G>T)
c.239C>A (p.Ser80Ter)
c.611C>A (p.Ser204Ter)
c.80C>A (p.Ser27Ter)
n.963C>A
 gnomAD v4
12g.95895031A=CA2056438825CCDC38,SNRPFc.730T= (p.Ser244=)
c.286+5850A= (n.286+5850A=)
c.238T= (p.Ser80=)
c.610T= (p.Ser204=)
c.79T= (p.Ser27=)
n.962T=
12g.95895031A>CCA386087220CCDC38,SNRPFc.730T>G (p.Ser244Ala)
c.286+5850A>C (n.286+5850A>C)
c.238T>G (p.Ser80Ala)
c.610T>G (p.Ser204Ala)
c.79T>G (p.Ser27Ala)
n.962T>G
12g.95895031A>GCA6726672CCDC38,SNRPFc.730T>C (p.Ser244Pro)
c.286+5850A>G (n.286+5850A>G)
c.238T>C (p.Ser80Pro)
c.610T>C (p.Ser204Pro)
c.79T>C (p.Ser27Pro)
n.962T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.95895031A>TCA386087221CCDC38,SNRPFc.730T>A (p.Ser244Thr)
c.286+5850A>T (n.286+5850A>T)
c.238T>A (p.Ser80Thr)
c.610T>A (p.Ser204Thr)
c.79T>A (p.Ser27Thr)
n.962T>A
12g.95895032T>ACA481431681CCDC38,SNRPFc.729A>T (p.Ala243=)
c.286+5851T>A (n.286+5851T>A)
c.237A>T (p.Ala79=)
c.609A>T (p.Ala203=)
c.78A>T (p.Ala26=)
n.961A>T
12g.95895032T>CCA481431683CCDC38,SNRPFc.729A>G (p.Ala243=)
c.286+5851T>C (n.286+5851T>C)
c.237A>G (p.Ala79=)
c.609A>G (p.Ala203=)
c.78A>G (p.Ala26=)
n.961A>G
12g.95895032T>GCA481431682CCDC38,SNRPFc.729A>C (p.Ala243=)
c.286+5851T>G (n.286+5851T>G)
c.237A>C (p.Ala79=)
c.609A>C (p.Ala203=)
c.78A>C (p.Ala26=)
n.961A>C
12g.95895033G>ACA386087223CCDC38,SNRPFc.728C>T (p.Ala243Val)
c.286+5852G>A (n.286+5852G>A)
c.236C>T (p.Ala79Val)
c.608C>T (p.Ala203Val)
c.77C>T (p.Ala26Val)
n.960C>T
 COSMIC
12g.95895033G>CCA386087224CCDC38,SNRPFc.728C>G (p.Ala243Gly)
c.286+5852G>C (n.286+5852G>C)
c.236C>G (p.Ala79Gly)
c.608C>G (p.Ala203Gly)
c.77C>G (p.Ala26Gly)
n.960C>G
12g.95895033G>TCA386087222CCDC38,SNRPFc.728C>A (p.Ala243Glu)
c.286+5852G>T (n.286+5852G>T)
c.236C>A (p.Ala79Glu)
c.608C>A (p.Ala203Glu)
c.77C>A (p.Ala26Glu)
n.960C>A
12g.95895034C>ACA386087225CCDC38,SNRPFc.727G>T (p.Ala243Ser)
c.286+5853C>A (n.286+5853C>A)
c.235G>T (p.Ala79Ser)
c.607G>T (p.Ala203Ser)
c.76G>T (p.Ala26Ser)
n.959G>T
12g.95895034C=CA2056438830CCDC38,SNRPFc.727G= (p.Ala243=)
c.286+5853C= (n.286+5853C=)
c.235G= (p.Ala79=)
c.607G= (p.Ala203=)
c.76G= (p.Ala26=)
n.959G=
12g.95895034C>GCA241427833CCDC38,SNRPFc.727G>C (p.Ala243Pro)
c.286+5853C>G (n.286+5853C>G)
c.235G>C (p.Ala79Pro)
c.607G>C (p.Ala203Pro)
c.76G>C (p.Ala26Pro)
n.959G>C
 dbSNP gnomAD v4
12g.95895034C>TCA6726673CCDC38,SNRPFc.727G>A (p.Ala243Thr)
c.286+5853C>T (n.286+5853C>T)
c.235G>A (p.Ala79Thr)
c.607G>A (p.Ala203Thr)
c.76G>A (p.Ala26Thr)
n.959G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.95895035C>ACA386087226CCDC38,SNRPFc.726G>T (p.Gln242His)
c.286+5854C>A (n.286+5854C>A)
c.234G>T (p.Gln78His)
c.606G>T (p.Gln202His)
c.75G>T (p.Gln25His)
n.958G>T
12g.95895035C=CA2056438834CCDC38,SNRPFc.726G= (p.Gln242=)
c.286+5854C= (n.286+5854C=)
c.234G= (p.Gln78=)
c.606G= (p.Gln202=)
c.75G= (p.Gln25=)
n.958G=
12g.95895035C>GCA386087227CCDC38,SNRPFc.726G>C (p.Gln242His)
c.286+5854C>G (n.286+5854C>G)
c.234G>C (p.Gln78His)
c.606G>C (p.Gln202His)
c.75G>C (p.Gln25His)
n.958G>C
12g.95895035C>TCA481431684CCDC38,SNRPFc.726G>A (p.Gln242=)
c.286+5854C>T (n.286+5854C>T)
c.234G>A (p.Gln78=)
c.606G>A (p.Gln202=)
c.75G>A (p.Gln25=)
n.958G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.95895037_95895043delCA2620270715CCDC38,SNRPFc.720_726del (p.Ala241HisfsTer14)
c.286+5856_286+5862del (n.286+5856_286+5862del)
c.228_234del (p.Ala77HisfsTer14)
c.600_606del (p.Ala201HisfsTer14)
c.69_75del (p.Ala24HisfsTer14)
n.952_958del
 gnomAD v4
12g.95895036T>ACA386087228CCDC38,SNRPFc.725A>T (p.Gln242Leu)
c.286+5855T>A (n.286+5855T>A)
c.233A>T (p.Gln78Leu)
c.605A>T (p.Gln202Leu)
c.74A>T (p.Gln25Leu)
n.957A>T
12g.95895036T>CCA386087229CCDC38,SNRPFc.725A>G (p.Gln242Arg)
c.286+5855T>C (n.286+5855T>C)
c.233A>G (p.Gln78Arg)
c.605A>G (p.Gln202Arg)
c.74A>G (p.Gln25Arg)
n.957A>G
12g.95895036T>GCA386087230CCDC38,SNRPFc.725A>C (p.Gln242Pro)
c.286+5855T>G (n.286+5855T>G)
c.233A>C (p.Gln78Pro)
c.605A>C (p.Gln202Pro)
c.74A>C (p.Gln25Pro)
n.957A>C
12g.95895037G>ACA386087231CCDC38,SNRPFc.724C>T (p.Gln242Ter)
c.286+5856G>A (n.286+5856G>A)
c.232C>T (p.Gln78Ter)
c.604C>T (p.Gln202Ter)
c.73C>T (p.Gln25Ter)
n.956C>T
 gnomAD v4
12g.95895037G>CCA386087232CCDC38,SNRPFc.724C>G (p.Gln242Glu)
c.286+5856G>C (n.286+5856G>C)
c.232C>G (p.Gln78Glu)
c.604C>G (p.Gln202Glu)
c.73C>G (p.Gln25Glu)
n.956C>G
12g.95895037G>TCA386087233CCDC38,SNRPFc.724C>A (p.Gln242Lys)
c.286+5856G>T (n.286+5856G>T)
c.232C>A (p.Gln78Lys)
c.604C>A (p.Gln202Lys)
c.73C>A (p.Gln25Lys)
n.956C>A
 gnomAD v4
12g.95895038T>ACA481431685CCDC38,SNRPFc.723A>T (p.Ala241=)
c.286+5857T>A (n.286+5857T>A)
c.231A>T (p.Ala77=)
c.603A>T (p.Ala201=)
c.72A>T (p.Ala24=)
n.955A>T
12g.95895038T>CCA481431686CCDC38,SNRPFc.723A>G (p.Ala241=)
c.286+5857T>C (n.286+5857T>C)
c.231A>G (p.Ala77=)
c.603A>G (p.Ala201=)
c.72A>G (p.Ala24=)
n.955A>G
12g.95895038T>GCA481431687CCDC38,SNRPFc.723A>C (p.Ala241=)
c.286+5857T>G (n.286+5857T>G)
c.231A>C (p.Ala77=)
c.603A>C (p.Ala201=)
c.72A>C (p.Ala24=)
n.955A>C
12g.95895039G>ACA386087236CCDC38,SNRPFc.722C>T (p.Ala241Val)
c.286+5858G>A (n.286+5858G>A)
c.230C>T (p.Ala77Val)
c.602C>T (p.Ala201Val)
c.71C>T (p.Ala24Val)
n.954C>T
12g.95895039G>CCA386087234CCDC38,SNRPFc.722C>G (p.Ala241Gly)
c.286+5858G>C (n.286+5858G>C)
c.230C>G (p.Ala77Gly)
c.602C>G (p.Ala201Gly)
c.71C>G (p.Ala24Gly)
n.954C>G
12g.95895039G>TCA386087235CCDC38,SNRPFc.722C>A (p.Ala241Glu)
c.286+5858G>T (n.286+5858G>T)
c.230C>A (p.Ala77Glu)
c.602C>A (p.Ala201Glu)
c.71C>A (p.Ala24Glu)
n.954C>A
12g.95895040C>ACA386087237CCDC38,SNRPFc.721G>T (p.Ala241Ser)
c.286+5859C>A (n.286+5859C>A)
c.229G>T (p.Ala77Ser)
c.601G>T (p.Ala201Ser)
c.70G>T (p.Ala24Ser)
n.953G>T
12g.95895040C>GCA386087238CCDC38,SNRPFc.721G>C (p.Ala241Pro)
c.286+5859C>G (n.286+5859C>G)
c.229G>C (p.Ala77Pro)
c.601G>C (p.Ala201Pro)
c.70G>C (p.Ala24Pro)
n.953G>C
12g.95895040C>TCA386087239CCDC38,SNRPFc.721G>A (p.Ala241Thr)
c.286+5859C>T (n.286+5859C>T)
c.229G>A (p.Ala77Thr)
c.601G>A (p.Ala201Thr)
c.70G>A (p.Ala24Thr)
n.953G>A
12g.95895041T>ACA386087240CCDC38,SNRPFc.720A>T (p.Arg240Ser)
c.286+5860T>A (n.286+5860T>A)
c.228A>T (p.Arg76Ser)
c.600A>T (p.Arg200Ser)
c.69A>T (p.Arg23Ser)
n.952A>T
12g.95895041T>CCA481431688CCDC38,SNRPFc.720A>G (p.Arg240=)
c.286+5860T>C (n.286+5860T>C)
c.228A>G (p.Arg76=)
c.600A>G (p.Arg200=)
c.69A>G (p.Arg23=)
n.952A>G
12g.95895041T>GCA386087241CCDC38,SNRPFc.720A>C (p.Arg240Ser)
c.286+5860T>G (n.286+5860T>G)
c.228A>C (p.Arg76Ser)
c.600A>C (p.Arg200Ser)
c.69A>C (p.Arg23Ser)
n.952A>C
12g.95895042C>ACA386087242CCDC38,SNRPFc.719G>T (p.Arg240Ile)
c.286+5861C>A (n.286+5861C>A)
c.227G>T (p.Arg76Ile)
c.599G>T (p.Arg200Ile)
c.68G>T (p.Arg23Ile)
n.951G>T
12g.95895042C>GCA386087243CCDC38,SNRPFc.719G>C (p.Arg240Thr)
c.286+5861C>G (n.286+5861C>G)
c.227G>C (p.Arg76Thr)
c.599G>C (p.Arg200Thr)
c.68G>C (p.Arg23Thr)
n.951G>C
 COSMIC
12g.95895042C>TCA386087244CCDC38,SNRPFc.719G>A (p.Arg240Lys)
c.286+5861C>T (n.286+5861C>T)
c.227G>A (p.Arg76Lys)
c.599G>A (p.Arg200Lys)
c.68G>A (p.Arg23Lys)
n.951G>A
12g.95895043T>ACA386087245CCDC38,SNRPFc.718A>T (p.Arg240Ter)
c.286+5862T>A (n.286+5862T>A)
c.226A>T (p.Arg76Ter)
c.598A>T (p.Arg200Ter)
c.67A>T (p.Arg23Ter)
n.950A>T
12g.95895043T>CCA386087246CCDC38,SNRPFc.718A>G (p.Arg240Gly)
c.286+5862T>C (n.286+5862T>C)
c.226A>G (p.Arg76Gly)
c.598A>G (p.Arg200Gly)
c.67A>G (p.Arg23Gly)
n.950A>G
12g.95895043T>GCA6726674CCDC38,SNRPFc.718A>C (p.Arg240=)
c.286+5862T>G (n.286+5862T>G)
c.226A>C (p.Arg76=)
c.598A>C (p.Arg200=)
c.67A>C (p.Arg23=)
n.950A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.95895043T=CA2056438837CCDC38,SNRPFc.718A= (p.Arg240=)
c.286+5862T= (n.286+5862T=)
c.226A= (p.Arg76=)
c.598A= (p.Arg200=)
c.67A= (p.Arg23=)
n.950A=
12g.95895044T>ACA386087248CCDC38,SNRPFc.717A>T (p.Lys239Asn)
c.286+5863T>A (n.286+5863T>A)
c.225A>T (p.Lys75Asn)
c.597A>T (p.Lys199Asn)
c.66A>T (p.Lys22Asn)
n.949A>T
12g.95895044T>CCA481431689CCDC38,SNRPFc.717A>G (p.Lys239=)
c.286+5863T>C (n.286+5863T>C)
c.225A>G (p.Lys75=)
c.597A>G (p.Lys199=)
c.66A>G (p.Lys22=)
n.949A>G
12g.95895044T>GCA386087247CCDC38,SNRPFc.717A>C (p.Lys239Asn)
c.286+5863T>G (n.286+5863T>G)
c.225A>C (p.Lys75Asn)
c.597A>C (p.Lys199Asn)
c.66A>C (p.Lys22Asn)
n.949A>C
12g.95895045T>ACA386087249CCDC38,SNRPFc.716A>T (p.Lys239Ile)
c.286+5864T>A (n.286+5864T>A)
c.224A>T (p.Lys75Ile)
c.596A>T (p.Lys199Ile)
c.65A>T (p.Lys22Ile)
n.948A>T
12g.95895045T>CCA386087251CCDC38,SNRPFc.716A>G (p.Lys239Arg)
c.286+5864T>C (n.286+5864T>C)
c.224A>G (p.Lys75Arg)
c.596A>G (p.Lys199Arg)
c.65A>G (p.Lys22Arg)
n.948A>G
12g.95895045T>GCA386087250CCDC38,SNRPFc.716A>C (p.Lys239Thr)
c.286+5864T>G (n.286+5864T>G)
c.224A>C (p.Lys75Thr)
c.596A>C (p.Lys199Thr)
c.65A>C (p.Lys22Thr)
n.948A>C
12g.95895046T>ACA386087252CCDC38,SNRPFc.715A>T (p.Lys239Ter)
c.286+5865T>A (n.286+5865T>A)
c.223A>T (p.Lys75Ter)
c.595A>T (p.Lys199Ter)
c.64A>T (p.Lys22Ter)
n.947A>T
12g.95895046T>CCA386087254CCDC38,SNRPFc.715A>G (p.Lys239Glu)
c.286+5865T>C (n.286+5865T>C)
c.223A>G (p.Lys75Glu)
c.595A>G (p.Lys199Glu)
c.64A>G (p.Lys22Glu)
n.947A>G
12g.95895046T>GCA386087253CCDC38,SNRPFc.715A>C (p.Lys239Gln)
c.286+5865T>G (n.286+5865T>G)
c.223A>C (p.Lys75Gln)
c.595A>C (p.Lys199Gln)
c.64A>C (p.Lys22Gln)
n.947A>C
12g.95895047T>ACA481431690CCDC38,SNRPFc.714A>T (p.Leu238=)
c.286+5866T>A (n.286+5866T>A)
c.222A>T (p.Leu74=)
c.594A>T (p.Leu198=)
c.63A>T (p.Leu21=)
n.946A>T
12g.95895047T>CCA481431692CCDC38,SNRPFc.714A>G (p.Leu238=)
c.286+5866T>C (n.286+5866T>C)
c.222A>G (p.Leu74=)
c.594A>G (p.Leu198=)
c.63A>G (p.Leu21=)
n.946A>G
 dbSNP gnomAD v2 gnomAD v4
12g.95895047T>GCA481431691CCDC38,SNRPFc.714A>C (p.Leu238=)
c.286+5866T>G (n.286+5866T>G)
c.222A>C (p.Leu74=)
c.594A>C (p.Leu198=)
c.63A>C (p.Leu21=)
n.946A>C
12g.95895047T=CA2056438842CCDC38,SNRPFc.714A= (p.Leu238=)
c.286+5866T= (n.286+5866T=)
c.222A= (p.Leu74=)
c.594A= (p.Leu198=)
c.63A= (p.Leu21=)
n.946A=
12g.95895048A>CCA386087255CCDC38,SNRPFc.713T>G (p.Leu238Arg)
c.286+5867A>C (n.286+5867A>C)
c.221T>G (p.Leu74Arg)
c.593T>G (p.Leu198Arg)
c.62T>G (p.Leu21Arg)
n.945T>G
12g.95895048A>GCA386087257CCDC38,SNRPFc.713T>C (p.Leu238Pro)
c.286+5867A>G (n.286+5867A>G)
c.221T>C (p.Leu74Pro)
c.593T>C (p.Leu198Pro)
c.62T>C (p.Leu21Pro)
n.945T>C
12g.95895048A>TCA386087256CCDC38,SNRPFc.713T>A (p.Leu238Gln)
c.286+5867A>T (n.286+5867A>T)
c.221T>A (p.Leu74Gln)
c.593T>A (p.Leu198Gln)
c.62T>A (p.Leu21Gln)
n.945T>A
12g.95895049G>ACA241427857CCDC38,SNRPFc.712C>T (p.Leu238=)
c.286+5868G>A (n.286+5868G>A)
c.220C>T (p.Leu74=)
c.592C>T (p.Leu198=)
c.61C>T (p.Leu21=)
n.944C>T
 dbSNP gnomAD v3 gnomAD v4
12g.95895049G>CCA386087258CCDC38,SNRPFc.712C>G (p.Leu238Val)
c.286+5868G>C (n.286+5868G>C)
c.220C>G (p.Leu74Val)
c.592C>G (p.Leu198Val)
c.61C>G (p.Leu21Val)
n.944C>G
12g.95895049G=CA2056438846CCDC38,SNRPFc.712C= (p.Leu238=)
c.286+5868G= (n.286+5868G=)
c.220C= (p.Leu74=)
c.592C= (p.Leu198=)
c.61C= (p.Leu21=)
n.944C=
12g.95895049G>TCA386087259CCDC38,SNRPFc.712C>A (p.Leu238Ile)
c.286+5868G>T (n.286+5868G>T)
c.220C>A (p.Leu74Ile)
c.592C>A (p.Leu198Ile)
c.61C>A (p.Leu21Ile)
n.944C>A
12g.95895050T>ACA481431693CCDC38,SNRPFc.711A>T (p.Ala237=)
c.286+5869T>A (n.286+5869T>A)
c.219A>T (p.Ala73=)
c.591A>T (p.Ala197=)
c.60A>T (p.Ala20=)
n.943A>T
12g.95895050T>CCA481431694CCDC38,SNRPFc.711A>G (p.Ala237=)
c.286+5869T>C (n.286+5869T>C)
c.219A>G (p.Ala73=)
c.591A>G (p.Ala197=)
c.60A>G (p.Ala20=)
n.943A>G
 COSMIC
12g.95895050T>GCA481431695CCDC38,SNRPFc.711A>C (p.Ala237=)
c.286+5869T>G (n.286+5869T>G)
c.219A>C (p.Ala73=)
c.591A>C (p.Ala197=)
c.60A>C (p.Ala20=)
n.943A>C
12g.95895051G>ACA386087260CCDC38,SNRPFc.710C>T (p.Ala237Val)
c.286+5870G>A (n.286+5870G>A)
c.218C>T (p.Ala73Val)
c.590C>T (p.Ala197Val)
c.59C>T (p.Ala20Val)
n.942C>T
 dbSNP
12g.95895051G>CCA386087261CCDC38,SNRPFc.710C>G (p.Ala237Gly)
c.286+5870G>C (n.286+5870G>C)
c.218C>G (p.Ala73Gly)
c.590C>G (p.Ala197Gly)
c.59C>G (p.Ala20Gly)
n.942C>G
12g.95895051G=CA2056438850CCDC38,SNRPFc.710C= (p.Ala237=)
c.286+5870G= (n.286+5870G=)
c.218C= (p.Ala73=)
c.590C= (p.Ala197=)
c.59C= (p.Ala20=)
n.942C=
12g.95895051G>TCA386087262CCDC38,SNRPFc.710C>A (p.Ala237Glu)
c.286+5870G>T (n.286+5870G>T)
c.218C>A (p.Ala73Glu)
c.590C>A (p.Ala197Glu)
c.59C>A (p.Ala20Glu)
n.942C>A
12g.95895052C>ACA386087263CCDC38,SNRPFc.709G>T (p.Ala237Ser)
c.286+5871C>A (n.286+5871C>A)
c.217G>T (p.Ala73Ser)
c.589G>T (p.Ala197Ser)
c.58G>T (p.Ala20Ser)
n.941G>T
12g.95895052C>GCA386087264CCDC38,SNRPFc.709G>C (p.Ala237Pro)
c.286+5871C>G (n.286+5871C>G)
c.217G>C (p.Ala73Pro)
c.589G>C (p.Ala197Pro)
c.58G>C (p.Ala20Pro)
n.941G>C
12g.95895052C>TCA386087265CCDC38,SNRPFc.709G>A (p.Ala237Thr)
c.286+5871C>T (n.286+5871C>T)
c.217G>A (p.Ala73Thr)
c.589G>A (p.Ala197Thr)
c.58G>A (p.Ala20Thr)
n.941G>A
 gnomAD v4
12g.95895053T>ACA386087266CCDC38,SNRPFc.708A>T (p.Gln236His)
c.286+5872T>A (n.286+5872T>A)
c.216A>T (p.Gln72His)
c.588A>T (p.Gln196His)
c.57A>T (p.Gln19His)
n.940A>T
12g.95895053T>CCA481431696CCDC38,SNRPFc.708A>G (p.Gln236=)
c.286+5872T>C (n.286+5872T>C)
c.216A>G (p.Gln72=)
c.588A>G (p.Gln196=)
c.57A>G (p.Gln19=)
n.940A>G
12g.95895053T>GCA386087267CCDC38,SNRPFc.708A>C (p.Gln236His)
c.286+5872T>G (n.286+5872T>G)
c.216A>C (p.Gln72His)
c.588A>C (p.Gln196His)
c.57A>C (p.Gln19His)
n.940A>C
12g.95895054T>ACA386087270CCDC38,SNRPFc.707A>T (p.Gln236Leu)
c.286+5873T>A (n.286+5873T>A)
c.215A>T (p.Gln72Leu)
c.587A>T (p.Gln196Leu)
c.56A>T (p.Gln19Leu)
n.939A>T
12g.95895054T>CCA386087269CCDC38,SNRPFc.707A>G (p.Gln236Arg)
c.286+5873T>C (n.286+5873T>C)
c.215A>G (p.Gln72Arg)
c.587A>G (p.Gln196Arg)
c.56A>G (p.Gln19Arg)
n.939A>G
12g.95895054T>GCA386087268CCDC38,SNRPFc.707A>C (p.Gln236Pro)
c.286+5873T>G (n.286+5873T>G)
c.215A>C (p.Gln72Pro)
c.587A>C (p.Gln196Pro)
c.56A>C (p.Gln19Pro)
n.939A>C
12g.95895055G>ACA386087271CCDC38,SNRPFc.706C>T (p.Gln236Ter)
c.286+5874G>A (n.286+5874G>A)
c.214C>T (p.Gln72Ter)
c.586C>T (p.Gln196Ter)
c.55C>T (p.Gln19Ter)
n.938C>T
12g.95895055G>CCA386087272CCDC38,SNRPFc.706C>G (p.Gln236Glu)
c.286+5874G>C (n.286+5874G>C)
c.214C>G (p.Gln72Glu)
c.586C>G (p.Gln196Glu)
c.55C>G (p.Gln19Glu)
n.938C>G
12g.95895055G>TCA386087273CCDC38,SNRPFc.706C>A (p.Gln236Lys)
c.286+5874G>T (n.286+5874G>T)
c.214C>A (p.Gln72Lys)
c.586C>A (p.Gln196Lys)
c.55C>A (p.Gln19Lys)
n.938C>A
12g.95895056C>ACA386087274CCDC38,SNRPFc.705G>T (p.Gln235His)
c.286+5875C>A (n.286+5875C>A)
c.213G>T (p.Gln71His)
c.585G>T (p.Gln195His)
c.54G>T (p.Gln18His)
n.937G>T
12g.95895056C=CA2056438853CCDC38,SNRPFc.705G= (p.Gln235=)
c.286+5875C= (n.286+5875C=)
c.213G= (p.Gln71=)
c.585G= (p.Gln195=)
c.54G= (p.Gln18=)
n.937G=
12g.95895056C>GCA6726675CCDC38,SNRPFc.705G>C (p.Gln235His)
c.286+5875C>G (n.286+5875C>G)
c.213G>C (p.Gln71His)
c.585G>C (p.Gln195His)
c.54G>C (p.Gln18His)
n.937G>C
 dbSNP ExAC gnomAD v2
12g.95895056C>TCA481431697CCDC38,SNRPFc.705G>A (p.Gln235=)
c.286+5875C>T (n.286+5875C>T)
c.213G>A (p.Gln71=)
c.585G>A (p.Gln195=)
c.54G>A (p.Gln18=)
n.937G>A
12g.95895057T>ACA386087275CCDC38,SNRPFc.704A>T (p.Gln235Leu)
c.286+5876T>A (n.286+5876T>A)
c.212A>T (p.Gln71Leu)
c.584A>T (p.Gln195Leu)
c.53A>T (p.Gln18Leu)
n.936A>T
12g.95895057T>CCA386087276CCDC38,SNRPFc.704A>G (p.Gln235Arg)
c.286+5876T>C (n.286+5876T>C)
c.212A>G (p.Gln71Arg)
c.584A>G (p.Gln195Arg)
c.53A>G (p.Gln18Arg)
n.936A>G
 dbSNP
12g.95895057T>GCA386087277CCDC38,SNRPFc.704A>C (p.Gln235Pro)
c.286+5876T>G (n.286+5876T>G)
c.212A>C (p.Gln71Pro)
c.584A>C (p.Gln195Pro)
c.53A>C (p.Gln18Pro)
n.936A>C
12g.95895057T=CA2056438855CCDC38,SNRPFc.704A= (p.Gln235=)
c.286+5876T= (n.286+5876T=)
c.212A= (p.Gln71=)
c.584A= (p.Gln195=)
c.53A= (p.Gln18=)
n.936A=
12g.95895058G>ACA386087280CCDC38,SNRPFc.703C>T (p.Gln235Ter)
c.286+5877G>A (n.286+5877G>A)
c.211C>T (p.Gln71Ter)
c.583C>T (p.Gln195Ter)
c.52C>T (p.Gln18Ter)
n.935C>T
12g.95895058G>CCA386087279CCDC38,SNRPFc.703C>G (p.Gln235Glu)
c.286+5877G>C (n.286+5877G>C)
c.211C>G (p.Gln71Glu)
c.583C>G (p.Gln195Glu)
c.52C>G (p.Gln18Glu)
n.935C>G
12g.95895058G>TCA386087278CCDC38,SNRPFc.703C>A (p.Gln235Lys)
c.286+5877G>T (n.286+5877G>T)
c.211C>A (p.Gln71Lys)
c.583C>A (p.Gln195Lys)
c.52C>A (p.Gln18Lys)
n.935C>A
12g.95895059G>ACA481431698CCDC38,SNRPFc.702C>T (p.Ile234=)
c.286+5878G>A (n.286+5878G>A)
c.210C>T (p.Ile70=)
c.582C>T (p.Ile194=)
c.51C>T (p.Ile17=)
n.934C>T
12g.95895059G>CCA386087281CCDC38,SNRPFc.702C>G (p.Ile234Met)
c.286+5878G>C (n.286+5878G>C)
c.210C>G (p.Ile70Met)
c.582C>G (p.Ile194Met)
c.51C>G (p.Ile17Met)
n.934C>G
12g.95895059G>TCA481431699CCDC38,SNRPFc.702C>A (p.Ile234=)
c.286+5878G>T (n.286+5878G>T)
c.210C>A (p.Ile70=)
c.582C>A (p.Ile194=)
c.51C>A (p.Ile17=)
n.934C>A
12g.95895060A=CA2056438858CCDC38,SNRPFc.701T= (p.Ile234=)
c.286+5879A= (n.286+5879A=)
c.209T= (p.Ile70=)
c.581T= (p.Ile194=)
c.50T= (p.Ile17=)
n.933T=
12g.95895060A>CCA386087282CCDC38,SNRPFc.701T>G (p.Ile234Ser)
c.286+5879A>C (n.286+5879A>C)
c.209T>G (p.Ile70Ser)
c.581T>G (p.Ile194Ser)
c.50T>G (p.Ile17Ser)
n.933T>G
12g.95895060A>GCA6726676CCDC38,SNRPFc.701T>C (p.Ile234Thr)
c.286+5879A>G (n.286+5879A>G)
c.209T>C (p.Ile70Thr)
c.581T>C (p.Ile194Thr)
c.50T>C (p.Ile17Thr)
n.933T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.95895060A>TCA386087283CCDC38,SNRPFc.701T>A (p.Ile234Asn)
c.286+5879A>T (n.286+5879A>T)
c.209T>A (p.Ile70Asn)
c.581T>A (p.Ile194Asn)
c.50T>A (p.Ile17Asn)
n.933T>A
12g.95895061T>ACA386087284CCDC38,SNRPFc.700A>T (p.Ile234Phe)
c.286+5880T>A (n.286+5880T>A)
c.208A>T (p.Ile70Phe)
c.580A>T (p.Ile194Phe)
c.49A>T (p.Ile17Phe)
n.932A>T
12g.95895061T>CCA386087285CCDC38,SNRPFc.700A>G (p.Ile234Val)
c.286+5880T>C (n.286+5880T>C)
c.208A>G (p.Ile70Val)
c.580A>G (p.Ile194Val)
c.49A>G (p.Ile17Val)
n.932A>G
12g.95895061T>GCA386087286CCDC38,SNRPFc.700A>C (p.Ile234Leu)
c.286+5880T>G (n.286+5880T>G)
c.208A>C (p.Ile70Leu)
c.580A>C (p.Ile194Leu)
c.49A>C (p.Ile17Leu)
n.932A>C
12g.95895062T>ACA386087287CCDC38,SNRPFc.699A>T (p.Gln233His)
c.286+5881T>A (n.286+5881T>A)
c.207A>T (p.Gln69His)
c.579A>T (p.Gln193His)
c.48A>T (p.Gln16His)
n.931A>T
12g.95895062T>CCA481431700CCDC38,SNRPFc.699A>G (p.Gln233=)
c.286+5881T>C (n.286+5881T>C)
c.207A>G (p.Gln69=)
c.579A>G (p.Gln193=)
c.48A>G (p.Gln16=)
n.931A>G
12g.95895062T>GCA386087288CCDC38,SNRPFc.699A>C (p.Gln233His)
c.286+5881T>G (n.286+5881T>G)
c.207A>C (p.Gln69His)
c.579A>C (p.Gln193His)
c.48A>C (p.Gln16His)
n.931A>C
12g.95895063T>ACA386087291CCDC38,SNRPFc.698A>T (p.Gln233Leu)
c.286+5882T>A (n.286+5882T>A)
c.206A>T (p.Gln69Leu)
c.578A>T (p.Gln193Leu)
c.47A>T (p.Gln16Leu)
n.930A>T
12g.95895063T>CCA386087289CCDC38,SNRPFc.698A>G (p.Gln233Arg)
c.286+5882T>C (n.286+5882T>C)
c.206A>G (p.Gln69Arg)
c.578A>G (p.Gln193Arg)
c.47A>G (p.Gln16Arg)
n.930A>G
12g.95895063T>GCA386087290CCDC38,SNRPFc.698A>C (p.Gln233Pro)
c.286+5882T>G (n.286+5882T>G)
c.206A>C (p.Gln69Pro)
c.578A>C (p.Gln193Pro)
c.47A>C (p.Gln16Pro)
n.930A>C
12g.95895064G>ACA386087292CCDC38,SNRPFc.697C>T (p.Gln233Ter)
c.286+5883G>A (n.286+5883G>A)
c.205C>T (p.Gln69Ter)
c.577C>T (p.Gln193Ter)
c.46C>T (p.Gln16Ter)
n.929C>T
 dbSNP gnomAD v2 gnomAD v4
12g.95895064G>CCA386087293CCDC38,SNRPFc.697C>G (p.Gln233Glu)
c.286+5883G>C (n.286+5883G>C)
c.205C>G (p.Gln69Glu)
c.577C>G (p.Gln193Glu)
c.46C>G (p.Gln16Glu)
n.929C>G
12g.95895064G=CA2056438860CCDC38,SNRPFc.697C= (p.Gln233=)
c.286+5883G= (n.286+5883G=)
c.205C= (p.Gln69=)
c.577C= (p.Gln193=)
c.46C= (p.Gln16=)
n.929C=
12g.95895064G>TCA386087294CCDC38,SNRPFc.697C>A (p.Gln233Lys)
c.286+5883G>T (n.286+5883G>T)
c.205C>A (p.Gln69Lys)
c.577C>A (p.Gln193Lys)
c.46C>A (p.Gln16Lys)
n.929C>A
12g.95895065C>ACA386087295CCDC38,SNRPFc.696G>T (p.Trp232Cys)
c.286+5884C>A (n.286+5884C>A)
c.204G>T (p.Trp68Cys)
c.576G>T (p.Trp192Cys)
c.45G>T (p.Trp15Cys)
n.928G>T
12g.95895065C>GCA386087296CCDC38,SNRPFc.696G>C (p.Trp232Cys)
c.286+5884C>G (n.286+5884C>G)
c.204G>C (p.Trp68Cys)
c.576G>C (p.Trp192Cys)
c.45G>C (p.Trp15Cys)
n.928G>C
12g.95895065C>TCA386087297CCDC38,SNRPFc.696G>A (p.Trp232Ter)
c.286+5884C>T (n.286+5884C>T)
c.204G>A (p.Trp68Ter)
c.576G>A (p.Trp192Ter)
c.45G>A (p.Trp15Ter)
n.928G>A
12g.95895066C>ACA386087298CCDC38,SNRPFc.695G>T (p.Trp232Leu)
c.286+5885C>A (n.286+5885C>A)
c.203G>T (p.Trp68Leu)
c.575G>T (p.Trp192Leu)
c.44G>T (p.Trp15Leu)
n.927G>T
12g.95895066C>GCA386087299CCDC38,SNRPFc.695G>C (p.Trp232Ser)
c.286+5885C>G (n.286+5885C>G)
c.203G>C (p.Trp68Ser)
c.575G>C (p.Trp192Ser)
c.44G>C (p.Trp15Ser)
n.927G>C
12g.95895066C>TCA386087300CCDC38,SNRPFc.695G>A (p.Trp232Ter)
c.286+5885C>T (n.286+5885C>T)
c.203G>A (p.Trp68Ter)
c.575G>A (p.Trp192Ter)
c.44G>A (p.Trp15Ter)
n.927G>A
 gnomAD v4
12g.95895067A>CCA386087302CCDC38,SNRPFc.694T>G (p.Trp232Gly)
c.286+5886A>C (n.286+5886A>C)
c.202T>G (p.Trp68Gly)
c.574T>G (p.Trp192Gly)
c.43T>G (p.Trp15Gly)
n.926T>G
12g.95895067A>GCA386087303CCDC38,SNRPFc.694T>C (p.Trp232Arg)
c.286+5886A>G (n.286+5886A>G)
c.202T>C (p.Trp68Arg)
c.574T>C (p.Trp192Arg)
c.43T>C (p.Trp15Arg)
n.926T>C
 gnomAD v4
12g.95895067A>TCA386087301CCDC38,SNRPFc.694T>A (p.Trp232Arg)
c.286+5886A>T (n.286+5886A>T)
c.202T>A (p.Trp68Arg)
c.574T>A (p.Trp192Arg)
c.43T>A (p.Trp15Arg)
n.926T>A
12g.95895068A=CA2056438862CCDC38,SNRPFc.693T= (p.His231=)
c.286+5887A= (n.286+5887A=)
c.201T= (p.His67=)
c.573T= (p.His191=)
c.42T= (p.His14=)
n.925T=
12g.95895068A>CCA386087304CCDC38,SNRPFc.693T>G (p.His231Gln)
c.286+5887A>C (n.286+5887A>C)
c.201T>G (p.His67Gln)
c.573T>G (p.His191Gln)
c.42T>G (p.His14Gln)
n.925T>G
12g.95895068A>GCA481431701CCDC38,SNRPFc.693T>C (p.His231=)
c.286+5887A>G (n.286+5887A>G)
c.201T>C (p.His67=)
c.573T>C (p.His191=)
c.42T>C (p.His14=)
n.925T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.95895068A>TCA386087305CCDC38,SNRPFc.693T>A (p.His231Gln)
c.286+5887A>T (n.286+5887A>T)
c.201T>A (p.His67Gln)
c.573T>A (p.His191Gln)
c.42T>A (p.His14Gln)
n.925T>A
12g.95895069T>ACA386087306CCDC38,SNRPFc.692A>T (p.His231Leu)
c.286+5888T>A (n.286+5888T>A)
c.200A>T (p.His67Leu)
c.572A>T (p.His191Leu)
c.41A>T (p.His14Leu)
n.924A>T
12g.95895069T>CCA386087307CCDC38,SNRPFc.692A>G (p.His231Arg)
c.286+5888T>C (n.286+5888T>C)
c.200A>G (p.His67Arg)
c.572A>G (p.His191Arg)
c.41A>G (p.His14Arg)
n.924A>G
 gnomAD v4
12g.95895069T>GCA386087308CCDC38,SNRPFc.692A>C (p.His231Pro)
c.286+5888T>G (n.286+5888T>G)
c.200A>C (p.His67Pro)
c.572A>C (p.His191Pro)
c.41A>C (p.His14Pro)
n.924A>C
12g.95895070G>ACA386087309CCDC38,SNRPFc.691C>T (p.His231Tyr)
c.286+5889G>A (n.286+5889G>A)
c.199C>T (p.His67Tyr)
c.571C>T (p.His191Tyr)
c.40C>T (p.His14Tyr)
n.923C>T
12g.95895070G>CCA386087310CCDC38,SNRPFc.691C>G (p.His231Asp)
c.286+5889G>C (n.286+5889G>C)
c.199C>G (p.His67Asp)
c.571C>G (p.His191Asp)
c.40C>G (p.His14Asp)
n.923C>G
12g.95895070G>TCA386087311CCDC38,SNRPFc.691C>A (p.His231Asn)
c.286+5889G>T (n.286+5889G>T)
c.199C>A (p.His67Asn)
c.571C>A (p.His191Asn)
c.40C>A (p.His14Asn)
n.923C>A
12g.95895071T>ACA386087312CCDC38,SNRPFc.690A>T (p.Lys230Asn)
c.286+5890T>A (n.286+5890T>A)
c.198A>T (p.Lys66Asn)
c.570A>T (p.Lys190Asn)
c.39A>T (p.Lys13Asn)
n.922A>T
12g.95895071T>CCA481431702CCDC38,SNRPFc.690A>G (p.Lys230=)
c.286+5890T>C (n.286+5890T>C)
c.198A>G (p.Lys66=)
c.570A>G (p.Lys190=)
c.39A>G (p.Lys13=)
n.922A>G
12g.95895071T>GCA386087313CCDC38,SNRPFc.690A>C (p.Lys230Asn)
c.286+5890T>G (n.286+5890T>G)
c.198A>C (p.Lys66Asn)
c.570A>C (p.Lys190Asn)
c.39A>C (p.Lys13Asn)
n.922A>C
12g.95895072T>ACA386087316CCDC38,SNRPFc.689A>T (p.Lys230Ile)
c.286+5891T>A (n.286+5891T>A)
c.197A>T (p.Lys66Ile)
c.569A>T (p.Lys190Ile)
c.38A>T (p.Lys13Ile)
n.921A>T
12g.95895072T>CCA386087315CCDC38,SNRPFc.689A>G (p.Lys230Arg)
c.286+5891T>C (n.286+5891T>C)
c.197A>G (p.Lys66Arg)
c.569A>G (p.Lys190Arg)
c.38A>G (p.Lys13Arg)
n.921A>G
12g.95895072T>GCA386087314CCDC38,SNRPFc.689A>C (p.Lys230Thr)
c.286+5891T>G (n.286+5891T>G)
c.197A>C (p.Lys66Thr)
c.569A>C (p.Lys190Thr)
c.38A>C (p.Lys13Thr)
n.921A>C
12g.95895073T>ACA386087317CCDC38,SNRPFc.688A>T (p.Lys230Ter)
c.286+5892T>A (n.286+5892T>A)
c.196A>T (p.Lys66Ter)
c.568A>T (p.Lys190Ter)
c.37A>T (p.Lys13Ter)
n.920A>T
12g.95895073T>CCA386087318CCDC38,SNRPFc.688A>G (p.Lys230Glu)
c.286+5892T>C (n.286+5892T>C)
c.196A>G (p.Lys66Glu)
c.568A>G (p.Lys190Glu)
c.37A>G (p.Lys13Glu)
n.920A>G
12g.95895073T>GCA386087319CCDC38,SNRPFc.688A>C (p.Lys230Gln)
c.286+5892T>G (n.286+5892T>G)
c.196A>C (p.Lys66Gln)
c.568A>C (p.Lys190Gln)
c.37A>C (p.Lys13Gln)
n.920A>C
12g.95895073T=CA2056438864CCDC38,SNRPFc.688A= (p.Lys230=)
c.286+5892T= (n.286+5892T=)
c.196A= (p.Lys66=)
c.568A= (p.Lys190=)
c.37A= (p.Lys13=)
n.920A=
12g.95895074T>ACA481431703CCDC38,SNRPFc.687A>T (p.Pro229=)
c.286+5893T>A (n.286+5893T>A)
c.195A>T (p.Pro65=)
c.567A>T (p.Pro189=)
c.36A>T (p.Pro12=)
n.919A>T
12g.95895074T>CCA481431704CCDC38,SNRPFc.687A>G (p.Pro229=)
c.286+5893T>C (n.286+5893T>C)
c.195A>G (p.Pro65=)
c.567A>G (p.Pro189=)
c.36A>G (p.Pro12=)
n.919A>G
12g.95895074T>GCA481431705CCDC38,SNRPFc.687A>C (p.Pro229=)
c.286+5893T>G (n.286+5893T>G)
c.195A>C (p.Pro65=)
c.567A>C (p.Pro189=)
c.36A>C (p.Pro12=)
n.919A>C
12g.95895074_95895075insTTATCTAAATCA607144231CCDC38,SNRPFc.687_688insTTTAGATAAA (p.Lys230PhefsTer3)
c.286+5893_286+5894insTTATCTAAAT (n.286+5893_286+5894insTTATCTAAAT)
c.195_196insTTTAGATAAA (p.Lys66PhefsTer3)
c.567_568insTTTAGATAAA (p.Lys190PhefsTer3)
c.36_37insTTTAGATAAA (p.Lys13PhefsTer3)
n.919_920insTTTAGATAAA
 dbSNP gnomAD v2
12g.95895074_95895076delinsTGGCA2056438867CCDC38,SNRPFc.685_687delinsCCA (p.Pro229=)
c.286+5893_286+5895delinsTGG (n.286+5893_286+5895delinsTGG)
c.193_195delinsCCA (p.Pro65=)
c.565_567delinsCCA (p.Pro189=)
c.34_36delinsCCA (p.Pro12=)
n.917_919delinsCCA
12g.95895074_95895075insTTATCTAAATAGATATTTTTTTAACA607144232CCDC38,SNRPFc.686_687insTTAAAAAAATATCTATTTAGATAA (p.Pro230Ter)
c.286+5893_286+5894insTTATCTAAATAGATATTTTTTTAA (n.286+5893_286+5894insTTATCTAAATAGATATTTTTTTAA)
c.194_195insTTAAAAAAATATCTATTTAGATAA (p.Pro66Ter)
c.566_567insTTAAAAAAATATCTATTTAGATAA (p.Pro190Ter)
c.35_36insTTAAAAAAATATCTATTTAGATAA (p.Pro13Ter)
n.918_919insTTAAAAAAATATCTATTTAGATAA
 gnomAD v2
12g.95895075G>ACA6726678CCDC38,SNRPFc.686C>T (p.Pro229Leu)
c.286+5894G>A (n.286+5894G>A)
c.194C>T (p.Pro65Leu)
c.566C>T (p.Pro189Leu)
c.35C>T (p.Pro12Leu)
n.918C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.95895075G>CCA386087320CCDC38,SNRPFc.686C>G (p.Pro229Arg)
c.286+5894G>C (n.286+5894G>C)
c.194C>G (p.Pro65Arg)
c.566C>G (p.Pro189Arg)
c.35C>G (p.Pro12Arg)
n.918C>G
12g.95895075G=CA2056438871CCDC38,SNRPFc.686C= (p.Pro229=)
c.286+5894G= (n.286+5894G=)
c.194C= (p.Pro65=)
c.566C= (p.Pro189=)
c.35C= (p.Pro12=)
n.918C=
12g.95895075G>TCA386087321CCDC38,SNRPFc.686C>A (p.Pro229Gln)
c.286+5894G>T (n.286+5894G>T)
c.194C>A (p.Pro65Gln)
c.566C>A (p.Pro189Gln)
c.35C>A (p.Pro12Gln)
n.918C>A
12g.95895075_95895076delCA6726677CCDC38,SNRPFc.685_686del (p.Pro229LysfsTer18)
c.286+5894_286+5895del (n.286+5894_286+5895del)
c.193_194del (p.Pro65LysfsTer18)
c.565_566del (p.Pro189LysfsTer18)
c.34_35del (p.Pro12LysfsTer18)
n.917_918del
 dbSNP ExAC gnomAD v2
12g.95895076G>ACA386087322CCDC38,SNRPFc.685C>T (p.Pro229Ser)
c.286+5895G>A (n.286+5895G>A)
c.193C>T (p.Pro65Ser)
c.565C>T (p.Pro189Ser)
c.34C>T (p.Pro12Ser)
n.917C>T
 gnomAD v4
12g.95895076G>CCA386087323CCDC38,SNRPFc.685C>G (p.Pro229Ala)
c.286+5895G>C (n.286+5895G>C)
c.193C>G (p.Pro65Ala)
c.565C>G (p.Pro189Ala)
c.34C>G (p.Pro12Ala)
n.917C>G
 dbSNP
12g.95895076G=CA2056438875CCDC38,SNRPFc.685C= (p.Pro229=)
c.286+5895G= (n.286+5895G=)
c.193C= (p.Pro65=)
c.565C= (p.Pro189=)
c.34C= (p.Pro12=)
n.917C=
12g.95895076G>TCA386087324CCDC38,SNRPFc.685C>A (p.Pro229Thr)
c.286+5895G>T (n.286+5895G>T)
c.193C>A (p.Pro65Thr)
c.565C>A (p.Pro189Thr)
c.34C>A (p.Pro12Thr)
n.917C>A
12g.95895076_95895077insTTATCTAAATCA6726679CCDC38,SNRPFc.684_685insATTTAGATAA (p.Pro229IlefsTer2)
c.286+5895_286+5896insTTATCTAAAT (n.286+5895_286+5896insTTATCTAAAT)
c.192_193insATTTAGATAA (p.Pro65IlefsTer2)
c.564_565insATTTAGATAA (p.Pro189IlefsTer2)
c.33_34insATTTAGATAA (p.Pro12IlefsTer2)
n.916_917insATTTAGATAA
 dbSNP ExAC gnomAD v2
12g.95895077A>CCA481431708CCDC38,SNRPFc.684T>G (p.Ser228=)
c.286+5896A>C (n.286+5896A>C)
c.192T>G (p.Ser64=)
c.564T>G (p.Ser188=)
c.33T>G (p.Ser11=)
n.916T>G
12g.95895077A>GCA481431706CCDC38,SNRPFc.684T>C (p.Ser228=)
c.286+5896A>G (n.286+5896A>G)
c.192T>C (p.Ser64=)
c.564T>C (p.Ser188=)
c.33T>C (p.Ser11=)
n.916T>C
12g.95895077A>TCA481431707CCDC38,SNRPFc.684T>A (p.Ser228=)
c.286+5896A>T (n.286+5896A>T)
c.192T>A (p.Ser64=)
c.564T>A (p.Ser188=)
c.33T>A (p.Ser11=)
n.916T>A
12g.95895078G>ACA386087325CCDC38,SNRPFc.683C>T (p.Ser228Phe)
c.286+5897G>A (n.286+5897G>A)
c.191C>T (p.Ser64Phe)
c.563C>T (p.Ser188Phe)
c.32C>T (p.Ser11Phe)
n.915C>T
 COSMIC
12g.95895078G>CCA386087327CCDC38,SNRPFc.683C>G (p.Ser228Cys)
c.286+5897G>C (n.286+5897G>C)
c.191C>G (p.Ser64Cys)
c.563C>G (p.Ser188Cys)
c.32C>G (p.Ser11Cys)
n.915C>G
 gnomAD v4
12g.95895078G>TCA386087326CCDC38,SNRPFc.683C>A (p.Ser228Tyr)
c.286+5897G>T (n.286+5897G>T)
c.191C>A (p.Ser64Tyr)
c.563C>A (p.Ser188Tyr)
c.32C>A (p.Ser11Tyr)
n.915C>A
12g.95895079A>CCA386087328CCDC38,SNRPFc.682T>G (p.Ser228Ala)
c.286+5898A>C (n.286+5898A>C)
c.190T>G (p.Ser64Ala)
c.562T>G (p.Ser188Ala)
c.31T>G (p.Ser11Ala)
n.914T>G
12g.95895079A>GCA386087329CCDC38,SNRPFc.682T>C (p.Ser228Pro)
c.286+5898A>G (n.286+5898A>G)
c.190T>C (p.Ser64Pro)
c.562T>C (p.Ser188Pro)
c.31T>C (p.Ser11Pro)
n.914T>C
12g.95895079A>TCA386087330CCDC38,SNRPFc.682T>A (p.Ser228Thr)
c.286+5898A>T (n.286+5898A>T)
c.190T>A (p.Ser64Thr)
c.562T>A (p.Ser188Thr)
c.31T>A (p.Ser11Thr)
n.914T>A
12g.95895080C>ACA386087331CCDC38,SNRPFc.681G>T (p.Met227Ile)
c.286+5899C>A (n.286+5899C>A)
c.189G>T (p.Met63Ile)
c.561G>T (p.Met187Ile)
c.30G>T (p.Met10Ile)
n.913G>T
12g.95895080C=CA2056438885CCDC38,SNRPFc.681G= (p.Met227=)
c.286+5899C= (n.286+5899C=)
c.189G= (p.Met63=)
c.561G= (p.Met187=)
c.30G= (p.Met10=)
n.913G=
12g.95895080C>GCA386087332CCDC38,SNRPFc.681G>C (p.Met227Ile)
c.286+5899C>G (n.286+5899C>G)
c.189G>C (p.Met63Ile)
c.561G>C (p.Met187Ile)
c.30G>C (p.Met10Ile)
n.913G>C
12g.95895080C>TCA6726680CCDC38,SNRPFc.681G>A (p.Met227Ile)
c.286+5899C>T (n.286+5899C>T)
c.189G>A (p.Met63Ile)
c.561G>A (p.Met187Ile)
c.30G>A (p.Met10Ile)
n.913G>A
 dbSNP ExAC
12g.95895081A=CA2056438889CCDC38,SNRPFc.680T= (p.Met227=)
c.286+5900A= (n.286+5900A=)
c.188T= (p.Met63=)
c.560T= (p.Met187=)
c.29T= (p.Met10=)
n.912T=
12g.95895081A>CCA386087333CCDC38,SNRPFc.680T>G (p.Met227Arg)
c.286+5900A>C (n.286+5900A>C)
c.188T>G (p.Met63Arg)
c.560T>G (p.Met187Arg)
c.29T>G (p.Met10Arg)
n.912T>G
12g.95895081A>GCA6726681CCDC38,SNRPFc.680T>C (p.Met227Thr)
c.286+5900A>G (n.286+5900A>G)
c.188T>C (p.Met63Thr)
c.560T>C (p.Met187Thr)
c.29T>C (p.Met10Thr)
n.912T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.95895081A>TCA386087334CCDC38,SNRPFc.680T>A (p.Met227Lys)
c.286+5900A>T (n.286+5900A>T)
c.188T>A (p.Met63Lys)
c.560T>A (p.Met187Lys)
c.29T>A (p.Met10Lys)
n.912T>A
12g.95895082T>ACA386087336CCDC38,SNRPFc.679A>T (p.Met227Leu)
c.286+5901T>A (n.286+5901T>A)
c.187A>T (p.Met63Leu)
c.559A>T (p.Met187Leu)
c.28A>T (p.Met10Leu)
n.911A>T
12g.95895082T>CCA6726682CCDC38,SNRPFc.679A>G (p.Met227Val)
c.286+5901T>C (n.286+5901T>C)
c.187A>G (p.Met63Val)
c.559A>G (p.Met187Val)
c.28A>G (p.Met10Val)
n.911A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.95895082T>GCA386087335CCDC38,SNRPFc.679A>C (p.Met227Leu)
c.286+5901T>G (n.286+5901T>G)
c.187A>C (p.Met63Leu)
c.559A>C (p.Met187Leu)
c.28A>C (p.Met10Leu)
n.911A>C
12g.95895082T=CA2056438892CCDC38,SNRPFc.679A= (p.Met227=)
c.286+5901T= (n.286+5901T=)
c.187A= (p.Met63=)
c.559A= (p.Met187=)
c.28A= (p.Met10=)
n.911A=
12g.95895082_95895088delCA2797069547CCDC38,SNRPFc.673_679del (p.Leu225CysfsTer12)
c.286+5901_286+5907del (n.286+5901_286+5907del)
c.181_187del (p.Leu61CysfsTer12)
c.553_559del (p.Leu185CysfsTer12)
c.22_28del (p.Leu8CysfsTer12)
n.905_911del
12g.95895082_95895089delCA950745053CCDC38,SNRPFc.672_679del (p.Leu225ValfsTer20)
c.286+5901_286+5908del (n.286+5901_286+5908del)
c.180_187del (p.Leu61ValfsTer20)
c.552_559del (p.Leu185ValfsTer20)
c.21_28del (p.Leu8ValfsTer20)
n.904_911del
 gnomAD v3 gnomAD v4
12g.95895083T>ACA386087337CCDC38,SNRPFc.678A>T (p.Gln226His)
c.286+5902T>A (n.286+5902T>A)
c.186A>T (p.Gln62His)
c.558A>T (p.Gln186His)
c.27A>T (p.Gln9His)
n.910A>T
12g.95895083T>CCA481431709CCDC38,SNRPFc.678A>G (p.Gln226=)
c.286+5902T>C (n.286+5902T>C)
c.186A>G (p.Gln62=)
c.558A>G (p.Gln186=)
c.27A>G (p.Gln9=)
n.910A>G
12g.95895083T>GCA241427892CCDC38,SNRPFc.678A>C (p.Gln226His)
c.286+5902T>G (n.286+5902T>G)
c.186A>C (p.Gln62His)
c.558A>C (p.Gln186His)
c.27A>C (p.Gln9His)
n.910A>C
 dbSNP
12g.95895083T=CA2056438896CCDC38,SNRPFc.678A= (p.Gln226=)
c.286+5902T= (n.286+5902T=)
c.186A= (p.Gln62=)
c.558A= (p.Gln186=)
c.27A= (p.Gln9=)
n.910A=
12g.95895083_95895089delCA2797069548CCDC38,SNRPFc.672_678del (p.Leu225CysfsTer12)
c.286+5902_286+5908del (n.286+5902_286+5908del)
c.180_186del (p.Leu61CysfsTer12)
c.552_558del (p.Leu185CysfsTer12)
c.21_27del (p.Leu8CysfsTer12)
n.904_910del
12g.95895084T>ACA386087338CCDC38,SNRPFc.677A>T (p.Gln226Leu)
c.286+5903T>A (n.286+5903T>A)
c.185A>T (p.Gln62Leu)
c.557A>T (p.Gln186Leu)
c.26A>T (p.Gln9Leu)
n.909A>T
12g.95895084T>CCA6726683CCDC38,SNRPFc.677A>G (p.Gln226Arg)
c.286+5903T>C (n.286+5903T>C)
c.185A>G (p.Gln62Arg)
c.557A>G (p.Gln186Arg)
c.26A>G (p.Gln9Arg)
n.909A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.95895084T>GCA386087339CCDC38,SNRPFc.677A>C (p.Gln226Pro)
c.286+5903T>G (n.286+5903T>G)
c.185A>C (p.Gln62Pro)
c.557A>C (p.Gln186Pro)
c.26A>C (p.Gln9Pro)
n.909A>C
12g.95895084T=CA2056438900CCDC38,SNRPFc.677A= (p.Gln226=)
c.286+5903T= (n.286+5903T=)
c.185A= (p.Gln62=)
c.557A= (p.Gln186=)
c.26A= (p.Gln9=)
n.909A=
12g.95895085G>ACA386087340CCDC38,SNRPFc.676C>T (p.Gln226Ter)
c.286+5904G>A (n.286+5904G>A)
c.184C>T (p.Gln62Ter)
c.556C>T (p.Gln186Ter)
c.25C>T (p.Gln9Ter)
n.908C>T
 gnomAD v4
12g.95895085G>CCA386087341CCDC38,SNRPFc.676C>G (p.Gln226Glu)
c.286+5904G>C (n.286+5904G>C)
c.184C>G (p.Gln62Glu)
c.556C>G (p.Gln186Glu)
c.25C>G (p.Gln9Glu)
n.908C>G
12g.95895085G>TCA386087342CCDC38,SNRPFc.676C>A (p.Gln226Lys)
c.286+5904G>T (n.286+5904G>T)
c.184C>A (p.Gln62Lys)
c.556C>A (p.Gln186Lys)
c.25C>A (p.Gln9Lys)
n.908C>A
12g.95895086C>ACA481431710CCDC38,SNRPFc.675G>T (p.Leu225=)
c.286+5905C>A (n.286+5905C>A)
c.183G>T (p.Leu61=)
c.555G>T (p.Leu185=)
c.24G>T (p.Leu8=)
n.907G>T
 gnomAD v4
12g.95895086C=CA2056438903CCDC38,SNRPFc.675G= (p.Leu225=)
c.286+5905C= (n.286+5905C=)
c.183G= (p.Leu61=)
c.555G= (p.Leu185=)
c.24G= (p.Leu8=)
n.907G=
12g.95895086C>GCA481431711CCDC38,SNRPFc.675G>C (p.Leu225=)
c.286+5905C>G (n.286+5905C>G)
c.183G>C (p.Leu61=)
c.555G>C (p.Leu185=)
c.24G>C (p.Leu8=)
n.907G>C
12g.95895086C>TCA481431712CCDC38,SNRPFc.675G>A (p.Leu225=)
c.286+5905C>T (n.286+5905C>T)
c.183G>A (p.Leu61=)
c.555G>A (p.Leu185=)
c.24G>A (p.Leu8=)
n.907G>A
 dbSNP gnomAD v4
12g.95895087A>CCA386087343CCDC38,SNRPFc.674T>G (p.Leu225Arg)
c.286+5906A>C (n.286+5906A>C)
c.182T>G (p.Leu61Arg)
c.554T>G (p.Leu185Arg)
c.23T>G (p.Leu8Arg)
n.906T>G
12g.95895087A>GCA386087344CCDC38,SNRPFc.674T>C (p.Leu225Pro)
c.286+5906A>G (n.286+5906A>G)
c.182T>C (p.Leu61Pro)
c.554T>C (p.Leu185Pro)
c.23T>C (p.Leu8Pro)
n.906T>C
12g.95895087A>TCA386087345CCDC38,SNRPFc.674T>A (p.Leu225Gln)
c.286+5906A>T (n.286+5906A>T)
c.182T>A (p.Leu61Gln)
c.554T>A (p.Leu185Gln)
c.23T>A (p.Leu8Gln)
n.906T>A
12g.95895088G>ACA481431713CCDC38,SNRPFc.673C>T (p.Leu225=)
c.286+5907G>A (n.286+5907G>A)
c.181C>T (p.Leu61=)
c.553C>T (p.Leu185=)
c.22C>T (p.Leu8=)
n.905C>T
12g.95895088G>CCA386087346CCDC38,SNRPFc.673C>G (p.Leu225Val)
c.286+5907G>C (n.286+5907G>C)
c.181C>G (p.Leu61Val)
c.553C>G (p.Leu185Val)
c.22C>G (p.Leu8Val)
n.905C>G
12g.95895088G=CA2056438907CCDC38,SNRPFc.673C= (p.Leu225=)
c.286+5907G= (n.286+5907G=)
c.181C= (p.Leu61=)
c.553C= (p.Leu185=)
c.22C= (p.Leu8=)
n.905C=
12g.95895088G>TCA6726684CCDC38,SNRPFc.673C>A (p.Leu225Met)
c.286+5907G>T (n.286+5907G>T)
c.181C>A (p.Leu61Met)
c.553C>A (p.Leu185Met)
c.22C>A (p.Leu8Met)
n.905C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.95895089C>ACA481431714CCDC38,SNRPFc.672G>T (p.Leu224=)
c.286+5908C>A (n.286+5908C>A)
c.180G>T (p.Leu60=)
c.552G>T (p.Leu184=)
c.21G>T (p.Leu7=)
n.904G>T
 gnomAD v4
12g.95895089C=CA2056438912CCDC38,SNRPFc.672G= (p.Leu224=)
c.286+5908C= (n.286+5908C=)
c.180G= (p.Leu60=)
c.552G= (p.Leu184=)
c.21G= (p.Leu7=)
n.904G=
12g.95895089C>GCA481431716CCDC38,SNRPFc.672G>C (p.Leu224=)
c.286+5908C>G (n.286+5908C>G)
c.180G>C (p.Leu60=)
c.552G>C (p.Leu184=)
c.21G>C (p.Leu7=)
n.904G>C
12g.95895089C>TCA481431715CCDC38,SNRPFc.672G>A (p.Leu224=)
c.286+5908C>T (n.286+5908C>T)
c.180G>A (p.Leu60=)
c.552G>A (p.Leu184=)
c.21G>A (p.Leu7=)
n.904G>A
 dbSNP gnomAD v2
12g.95895090A>CCA386087347CCDC38,SNRPFc.671T>G (p.Leu224Arg)
c.286+5909A>C (n.286+5909A>C)
c.179T>G (p.Leu60Arg)
c.551T>G (p.Leu184Arg)
c.20T>G (p.Leu7Arg)
n.903T>G
12g.95895090A>GCA386087349CCDC38,SNRPFc.671T>C (p.Leu224Pro)
c.286+5909A>G (n.286+5909A>G)
c.179T>C (p.Leu60Pro)
c.551T>C (p.Leu184Pro)
c.20T>C (p.Leu7Pro)
n.903T>C
12g.95895090A>TCA386087348CCDC38,SNRPFc.671T>A (p.Leu224Gln)
c.286+5909A>T (n.286+5909A>T)
c.179T>A (p.Leu60Gln)
c.551T>A (p.Leu184Gln)
c.20T>A (p.Leu7Gln)
n.903T>A
12g.95895090_95895091insAAAAAAACA2797069549CCDC38,SNRPFc.671_672insTTTTTTT (p.Leu225PhefsTer25)
c.286+5909_286+5910insAAAAAAA (n.286+5909_286+5910insAAAAAAA)
c.179_180insTTTTTTT (p.Leu61PhefsTer25)
c.551_552insTTTTTTT (p.Leu185PhefsTer25)
c.20_21insTTTTTTT (p.Leu8PhefsTer25)
n.903_904insTTTTTTT
12g.95895090_95895091insAAAAAAAACA950745064CCDC38,SNRPFc.671_672insTTTTTTTT (p.Leu225PhefsTer17)
c.286+5909_286+5910insAAAAAAAA (n.286+5909_286+5910insAAAAAAAA)
c.179_180insTTTTTTTT (p.Leu61PhefsTer17)
c.551_552insTTTTTTTT (p.Leu185PhefsTer17)
c.20_21insTTTTTTTT (p.Leu8PhefsTer17)
n.903_904insTTTTTTTT
 gnomAD v3 gnomAD v4
12g.95895091G>ACA6726686CCDC38,SNRPFc.670C>T (p.Leu224=)
c.286+5910G>A (n.286+5910G>A)
c.178C>T (p.Leu60=)
c.550C>T (p.Leu184=)
c.19C>T (p.Leu7=)
n.902C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.95895091G>CCA386087350CCDC38,SNRPFc.670C>G (p.Leu224Val)
c.286+5910G>C (n.286+5910G>C)
c.178C>G (p.Leu60Val)
c.550C>G (p.Leu184Val)
c.19C>G (p.Leu7Val)
n.902C>G
12g.95895091G=CA2056438916CCDC38,SNRPFc.670C= (p.Leu224=)
c.286+5910G= (n.286+5910G=)
c.178C= (p.Leu60=)
c.550C= (p.Leu184=)
c.19C= (p.Leu7=)
n.902C=
12g.95895091G>TCA386087351CCDC38,SNRPFc.670C>A (p.Leu224Met)
c.286+5910G>T (n.286+5910G>T)
c.178C>A (p.Leu60Met)
c.550C>A (p.Leu184Met)
c.19C>A (p.Leu7Met)
n.902C>A
12g.95895091_95895092delinsGACA2056438920CCDC38,SNRPFc.669_670delinsTC (p.Phe223=)
c.286+5910_286+5911delinsGA (n.286+5910_286+5911delinsGA)
c.177_178delinsTC (p.Phe59=)
c.549_550delinsTC (p.Phe183=)
c.18_19delinsTC (p.Phe6=)
n.901_902delinsTC

Number of alleles fetched