Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112840128_112843000delCA2582341313APCc.4588_7460del (p.Asp1530Ter)
c.*4540_*7412del (n.*4540_*7412del)
c.4480_7352del (p.Asp1494Ter)
c.4534_7406del (p.Asp1512Ter)
c.230+11156_231-13649del
c.4564_7436del (p.Asp1522Ter)
c.4459_7331del (p.Asp1487Ter)
c.4450_7322del (p.Asp1484Ter)
c.4411_7283del (p.Asp1471Ter)
c.4357_7229del (p.Asp1453Ter)
c.4261_7133del (p.Asp1421Ter)
c.4231_7103del (p.Asp1411Ter)
c.4156_7028del (p.Asp1386Ter)
c.4054_6926del (p.Asp1352Ter)
c.3685_6557del (p.Asp1229Ter)
ClinVar
5g.112842520delCA2695198719APCc.6980del (p.Pro2327LeufsTer9)
c.*6932del (n.*6932del)
c.6872del (p.Pro2291LeufsTer9)
c.6926del (p.Pro2309LeufsTer9)
c.*6248del (n.*6248del)
c.230+13548del
c.6956del (p.Pro2319LeufsTer9)
c.6851del (p.Pro2284LeufsTer9)
c.6842del (p.Pro2281LeufsTer9)
c.6803del (p.Pro2268LeufsTer9)
c.6749del (p.Pro2250LeufsTer9)
c.6653del (p.Pro2218LeufsTer9)
c.6623del (p.Pro2208LeufsTer9)
c.6548del (p.Pro2183LeufsTer9)
c.6446del (p.Pro2149LeufsTer9)
c.6077del (p.Pro2026LeufsTer9)
ClinVar
5g.112842520C>ACA16036439APCc.6980C>A (p.Pro2327His)
c.*6932C>A (n.*6932C>A)
c.6872C>A (p.Pro2291His)
c.6926C>A (p.Pro2309His)
c.*6248C>A (n.*6248C>A)
c.230+13548C>A
c.6956C>A (p.Pro2319His)
c.6851C>A (p.Pro2284His)
c.6842C>A (p.Pro2281His)
c.6803C>A (p.Pro2268His)
c.6749C>A (p.Pro2250His)
c.6653C>A (p.Pro2218His)
c.6623C>A (p.Pro2208His)
c.6548C>A (p.Pro2183His)
c.6446C>A (p.Pro2149His)
c.6077C>A (p.Pro2026His)
ClinVar
5g.112842520C=CA1573485579APCc.6980C= (p.Pro2327=)
c.*6932C= (n.*6932C=)
c.6872C= (p.Pro2291=)
c.6926C= (p.Pro2309=)
c.*6248C= (n.*6248C=)
c.230+13548C=
c.6956C= (p.Pro2319=)
c.6851C= (p.Pro2284=)
c.6842C= (p.Pro2281=)
c.6803C= (p.Pro2268=)
c.6749C= (p.Pro2250=)
c.6653C= (p.Pro2218=)
c.6623C= (p.Pro2208=)
c.6548C= (p.Pro2183=)
c.6446C= (p.Pro2149=)
c.6077C= (p.Pro2026=)
5g.112842520C>GCA16036440APCc.6980C>G (p.Pro2327Arg)
c.*6932C>G (n.*6932C>G)
c.6872C>G (p.Pro2291Arg)
c.6926C>G (p.Pro2309Arg)
c.*6248C>G (n.*6248C>G)
c.230+13548C>G
c.6956C>G (p.Pro2319Arg)
c.6851C>G (p.Pro2284Arg)
c.6842C>G (p.Pro2281Arg)
c.6803C>G (p.Pro2268Arg)
c.6749C>G (p.Pro2250Arg)
c.6653C>G (p.Pro2218Arg)
c.6623C>G (p.Pro2208Arg)
c.6548C>G (p.Pro2183Arg)
c.6446C>G (p.Pro2149Arg)
c.6077C>G (p.Pro2026Arg)
5g.112842520C>TCA16036441APCc.6980C>T (p.Pro2327Leu)
c.*6932C>T (n.*6932C>T)
c.6872C>T (p.Pro2291Leu)
c.6926C>T (p.Pro2309Leu)
c.*6248C>T (n.*6248C>T)
c.230+13548C>T
c.6956C>T (p.Pro2319Leu)
c.6851C>T (p.Pro2284Leu)
c.6842C>T (p.Pro2281Leu)
c.6803C>T (p.Pro2268Leu)
c.6749C>T (p.Pro2250Leu)
c.6653C>T (p.Pro2218Leu)
c.6623C>T (p.Pro2208Leu)
c.6548C>T (p.Pro2183Leu)
c.6446C>T (p.Pro2149Leu)
c.6077C>T (p.Pro2026Leu)
ClinVar dbSNP gnomAD v4
5g.112842521T>ACA446210512APCc.6981T>A (p.Pro2327=)
c.*6933T>A (n.*6933T>A)
c.6873T>A (p.Pro2291=)
c.6927T>A (p.Pro2309=)
c.*6249T>A (n.*6249T>A)
c.230+13549T>A
c.6957T>A (p.Pro2319=)
c.6852T>A (p.Pro2284=)
c.6843T>A (p.Pro2281=)
c.6804T>A (p.Pro2268=)
c.6750T>A (p.Pro2250=)
c.6654T>A (p.Pro2218=)
c.6624T>A (p.Pro2208=)
c.6549T>A (p.Pro2183=)
c.6447T>A (p.Pro2149=)
c.6078T>A (p.Pro2026=)
dbSNP
5g.112842521T>CCA446210513APCc.6981T>C (p.Pro2327=)
c.*6933T>C (n.*6933T>C)
c.6873T>C (p.Pro2291=)
c.6927T>C (p.Pro2309=)
c.*6249T>C (n.*6249T>C)
c.230+13549T>C
c.6957T>C (p.Pro2319=)
c.6852T>C (p.Pro2284=)
c.6843T>C (p.Pro2281=)
c.6804T>C (p.Pro2268=)
c.6750T>C (p.Pro2250=)
c.6654T>C (p.Pro2218=)
c.6624T>C (p.Pro2208=)
c.6549T>C (p.Pro2183=)
c.6447T>C (p.Pro2149=)
c.6078T>C (p.Pro2026=)
ClinVar dbSNP
5g.112842521T>GCA446210514APCc.6981T>G (p.Pro2327=)
c.*6933T>G (n.*6933T>G)
c.6873T>G (p.Pro2291=)
c.6927T>G (p.Pro2309=)
c.*6249T>G (n.*6249T>G)
c.230+13549T>G
c.6957T>G (p.Pro2319=)
c.6852T>G (p.Pro2284=)
c.6843T>G (p.Pro2281=)
c.6804T>G (p.Pro2268=)
c.6750T>G (p.Pro2250=)
c.6654T>G (p.Pro2218=)
c.6624T>G (p.Pro2208=)
c.6549T>G (p.Pro2183=)
c.6447T>G (p.Pro2149=)
c.6078T>G (p.Pro2026=)
dbSNP
5g.112842522T>ACA16036442APCc.6982T>A (p.Ser2328Thr)
c.*6934T>A (n.*6934T>A)
c.6874T>A (p.Ser2292Thr)
c.6928T>A (p.Ser2310Thr)
c.*6250T>A (n.*6250T>A)
c.230+13550T>A
c.6958T>A (p.Ser2320Thr)
c.6853T>A (p.Ser2285Thr)
c.6844T>A (p.Ser2282Thr)
c.6805T>A (p.Ser2269Thr)
c.6751T>A (p.Ser2251Thr)
c.6655T>A (p.Ser2219Thr)
c.6625T>A (p.Ser2209Thr)
c.6550T>A (p.Ser2184Thr)
c.6448T>A (p.Ser2150Thr)
c.6079T>A (p.Ser2027Thr)
dbSNP
5g.112842522T>CCA16036443APCc.6982T>C (p.Ser2328Pro)
c.*6934T>C (n.*6934T>C)
c.6874T>C (p.Ser2292Pro)
c.6928T>C (p.Ser2310Pro)
c.*6250T>C (n.*6250T>C)
c.230+13550T>C
c.6958T>C (p.Ser2320Pro)
c.6853T>C (p.Ser2285Pro)
c.6844T>C (p.Ser2282Pro)
c.6805T>C (p.Ser2269Pro)
c.6751T>C (p.Ser2251Pro)
c.6655T>C (p.Ser2219Pro)
c.6625T>C (p.Ser2209Pro)
c.6550T>C (p.Ser2184Pro)
c.6448T>C (p.Ser2150Pro)
c.6079T>C (p.Ser2027Pro)
ClinVar dbSNP
5g.112842522T>GCA16036444APCc.6982T>G (p.Ser2328Ala)
c.*6934T>G (n.*6934T>G)
c.6874T>G (p.Ser2292Ala)
c.6928T>G (p.Ser2310Ala)
c.*6250T>G (n.*6250T>G)
c.230+13550T>G
c.6958T>G (p.Ser2320Ala)
c.6853T>G (p.Ser2285Ala)
c.6844T>G (p.Ser2282Ala)
c.6805T>G (p.Ser2269Ala)
c.6751T>G (p.Ser2251Ala)
c.6655T>G (p.Ser2219Ala)
c.6625T>G (p.Ser2209Ala)
c.6550T>G (p.Ser2184Ala)
c.6448T>G (p.Ser2150Ala)
c.6079T>G (p.Ser2027Ala)
5g.112842522T=CA1573485584APCc.6982T= (p.Ser2328=)
c.*6934T= (n.*6934T=)
c.6874T= (p.Ser2292=)
c.6928T= (p.Ser2310=)
c.*6250T= (n.*6250T=)
c.230+13550T=
c.6958T= (p.Ser2320=)
c.6853T= (p.Ser2285=)
c.6844T= (p.Ser2282=)
c.6805T= (p.Ser2269=)
c.6751T= (p.Ser2251=)
c.6655T= (p.Ser2219=)
c.6625T= (p.Ser2209=)
c.6550T= (p.Ser2184=)
c.6448T= (p.Ser2150=)
c.6079T= (p.Ser2027=)
5g.112842523C>ACA16036445APCc.6983C>A (p.Ser2328Ter)
c.*6935C>A (n.*6935C>A)
c.6875C>A (p.Ser2292Ter)
c.6929C>A (p.Ser2310Ter)
c.*6251C>A (n.*6251C>A)
c.230+13551C>A
c.6959C>A (p.Ser2320Ter)
c.6854C>A (p.Ser2285Ter)
c.6845C>A (p.Ser2282Ter)
c.6806C>A (p.Ser2269Ter)
c.6752C>A (p.Ser2251Ter)
c.6656C>A (p.Ser2219Ter)
c.6626C>A (p.Ser2209Ter)
c.6551C>A (p.Ser2184Ter)
c.6449C>A (p.Ser2150Ter)
c.6080C>A (p.Ser2027Ter)
5g.112842523C=CA1573465324APCc.6983C= (p.Ser2328=)
c.*6935C= (n.*6935C=)
c.6875C= (p.Ser2292=)
c.6929C= (p.Ser2310=)
c.*6251C= (n.*6251C=)
c.230+13551C=
c.6959C= (p.Ser2320=)
c.6854C= (p.Ser2285=)
c.6845C= (p.Ser2282=)
c.6806C= (p.Ser2269=)
c.6752C= (p.Ser2251=)
c.6656C= (p.Ser2219=)
c.6626C= (p.Ser2209=)
c.6551C= (p.Ser2184=)
c.6449C= (p.Ser2150=)
c.6080C= (p.Ser2027=)
5g.112842523C>GCA16036446APCc.6983C>G (p.Ser2328Ter)
c.*6935C>G (n.*6935C>G)
c.6875C>G (p.Ser2292Ter)
c.6929C>G (p.Ser2310Ter)
c.*6251C>G (n.*6251C>G)
c.230+13551C>G
c.6959C>G (p.Ser2320Ter)
c.6854C>G (p.Ser2285Ter)
c.6845C>G (p.Ser2282Ter)
c.6806C>G (p.Ser2269Ter)
c.6752C>G (p.Ser2251Ter)
c.6656C>G (p.Ser2219Ter)
c.6626C>G (p.Ser2209Ter)
c.6551C>G (p.Ser2184Ter)
c.6449C>G (p.Ser2150Ter)
c.6080C>G (p.Ser2027Ter)
dbSNP
5g.112842523C>TCA16036447APCc.6983C>T (p.Ser2328Leu)
c.*6935C>T (n.*6935C>T)
c.6875C>T (p.Ser2292Leu)
c.6929C>T (p.Ser2310Leu)
c.*6251C>T (n.*6251C>T)
c.230+13551C>T
c.6959C>T (p.Ser2320Leu)
c.6854C>T (p.Ser2285Leu)
c.6845C>T (p.Ser2282Leu)
c.6806C>T (p.Ser2269Leu)
c.6752C>T (p.Ser2251Leu)
c.6656C>T (p.Ser2219Leu)
c.6626C>T (p.Ser2209Leu)
c.6551C>T (p.Ser2184Leu)
c.6449C>T (p.Ser2150Leu)
c.6080C>T (p.Ser2027Leu)
ClinVar dbSNP gnomAD v4
5g.112842524A>CCA446210517APCc.6984A>C (p.Ser2328=)
c.*6936A>C (n.*6936A>C)
c.6876A>C (p.Ser2292=)
c.6930A>C (p.Ser2310=)
c.*6252A>C (n.*6252A>C)
c.230+13552A>C
c.6960A>C (p.Ser2320=)
c.6855A>C (p.Ser2285=)
c.6846A>C (p.Ser2282=)
c.6807A>C (p.Ser2269=)
c.6753A>C (p.Ser2251=)
c.6657A>C (p.Ser2219=)
c.6627A>C (p.Ser2209=)
c.6552A>C (p.Ser2184=)
c.6450A>C (p.Ser2150=)
c.6081A>C (p.Ser2027=)
dbSNP gnomAD v4
5g.112842524A>GCA446210519APCc.6984A>G (p.Ser2328=)
c.*6936A>G (n.*6936A>G)
c.6876A>G (p.Ser2292=)
c.6930A>G (p.Ser2310=)
c.*6252A>G (n.*6252A>G)
c.230+13552A>G
c.6960A>G (p.Ser2320=)
c.6855A>G (p.Ser2285=)
c.6846A>G (p.Ser2282=)
c.6807A>G (p.Ser2269=)
c.6753A>G (p.Ser2251=)
c.6657A>G (p.Ser2219=)
c.6627A>G (p.Ser2209=)
c.6552A>G (p.Ser2184=)
c.6450A>G (p.Ser2150=)
c.6081A>G (p.Ser2027=)
dbSNP COSMIC
5g.112842524A>TCA446210518APCc.6984A>T (p.Ser2328=)
c.*6936A>T (n.*6936A>T)
c.6876A>T (p.Ser2292=)
c.6930A>T (p.Ser2310=)
c.*6252A>T (n.*6252A>T)
c.230+13552A>T
c.6960A>T (p.Ser2320=)
c.6855A>T (p.Ser2285=)
c.6846A>T (p.Ser2282=)
c.6807A>T (p.Ser2269=)
c.6753A>T (p.Ser2251=)
c.6657A>T (p.Ser2219=)
c.6627A>T (p.Ser2209=)
c.6552A>T (p.Ser2184=)
c.6450A>T (p.Ser2150=)
c.6081A>T (p.Ser2027=)
dbSNP
5g.112842525A=CA1573465336APCc.6985A= (p.Arg2329=)
c.*6937A= (n.*6937A=)
c.6877A= (p.Arg2293=)
c.6931A= (p.Arg2311=)
c.*6253A= (n.*6253A=)
c.230+13553A=
c.6961A= (p.Arg2321=)
c.6856A= (p.Arg2286=)
c.6847A= (p.Arg2283=)
c.6808A= (p.Arg2270=)
c.6754A= (p.Arg2252=)
c.6658A= (p.Arg2220=)
c.6628A= (p.Arg2210=)
c.6553A= (p.Arg2185=)
c.6451A= (p.Arg2151=)
c.6082A= (p.Arg2028=)
5g.112842525A>CCA446210520APCc.6985A>C (p.Arg2329=)
c.*6937A>C (n.*6937A>C)
c.6877A>C (p.Arg2293=)
c.6931A>C (p.Arg2311=)
c.*6253A>C (n.*6253A>C)
c.230+13553A>C
c.6961A>C (p.Arg2321=)
c.6856A>C (p.Arg2286=)
c.6847A>C (p.Arg2283=)
c.6808A>C (p.Arg2270=)
c.6754A>C (p.Arg2252=)
c.6658A>C (p.Arg2220=)
c.6628A>C (p.Arg2210=)
c.6553A>C (p.Arg2185=)
c.6451A>C (p.Arg2151=)
c.6082A>C (p.Arg2028=)
ClinVar dbSNP
5g.112842525A>GCA10582337APCc.6985A>G (p.Arg2329Gly)
c.*6937A>G (n.*6937A>G)
c.6877A>G (p.Arg2293Gly)
c.6931A>G (p.Arg2311Gly)
c.*6253A>G (n.*6253A>G)
c.230+13553A>G
c.6961A>G (p.Arg2321Gly)
c.6856A>G (p.Arg2286Gly)
c.6847A>G (p.Arg2283Gly)
c.6808A>G (p.Arg2270Gly)
c.6754A>G (p.Arg2252Gly)
c.6658A>G (p.Arg2220Gly)
c.6628A>G (p.Arg2210Gly)
c.6553A>G (p.Arg2185Gly)
c.6451A>G (p.Arg2151Gly)
c.6082A>G (p.Arg2028Gly)
ClinVar dbSNP gnomAD v4
5g.112842525A>TCA16036448APCc.6985A>T (p.Arg2329Ter)
c.*6937A>T (n.*6937A>T)
c.6877A>T (p.Arg2293Ter)
c.6931A>T (p.Arg2311Ter)
c.*6253A>T (n.*6253A>T)
c.230+13553A>T
c.6961A>T (p.Arg2321Ter)
c.6856A>T (p.Arg2286Ter)
c.6847A>T (p.Arg2283Ter)
c.6808A>T (p.Arg2270Ter)
c.6754A>T (p.Arg2252Ter)
c.6658A>T (p.Arg2220Ter)
c.6628A>T (p.Arg2210Ter)
c.6553A>T (p.Arg2185Ter)
c.6451A>T (p.Arg2151Ter)
c.6082A>T (p.Arg2028Ter)
dbSNP
5g.112842526G>ACA10582338APCc.6986G>A (p.Arg2329Lys)
c.*6938G>A (n.*6938G>A)
c.6878G>A (p.Arg2293Lys)
c.6932G>A (p.Arg2311Lys)
c.*6254G>A (n.*6254G>A)
c.230+13554G>A
c.6962G>A (p.Arg2321Lys)
c.6857G>A (p.Arg2286Lys)
c.6848G>A (p.Arg2283Lys)
c.6809G>A (p.Arg2270Lys)
c.6755G>A (p.Arg2252Lys)
c.6659G>A (p.Arg2220Lys)
c.6629G>A (p.Arg2210Lys)
c.6554G>A (p.Arg2185Lys)
c.6452G>A (p.Arg2151Lys)
c.6083G>A (p.Arg2028Lys)
ClinVar dbSNP
5g.112842526G>CCA16036449APCc.6986G>C (p.Arg2329Thr)
c.*6938G>C (n.*6938G>C)
c.6878G>C (p.Arg2293Thr)
c.6932G>C (p.Arg2311Thr)
c.*6254G>C (n.*6254G>C)
c.230+13554G>C
c.6962G>C (p.Arg2321Thr)
c.6857G>C (p.Arg2286Thr)
c.6848G>C (p.Arg2283Thr)
c.6809G>C (p.Arg2270Thr)
c.6755G>C (p.Arg2252Thr)
c.6659G>C (p.Arg2220Thr)
c.6629G>C (p.Arg2210Thr)
c.6554G>C (p.Arg2185Thr)
c.6452G>C (p.Arg2151Thr)
c.6083G>C (p.Arg2028Thr)
ClinVar dbSNP gnomAD v4 COSMIC
5g.112842526G=CA1573465350APCc.6986G= (p.Arg2329=)
c.*6938G= (n.*6938G=)
c.6878G= (p.Arg2293=)
c.6932G= (p.Arg2311=)
c.*6254G= (n.*6254G=)
c.230+13554G=
c.6962G= (p.Arg2321=)
c.6857G= (p.Arg2286=)
c.6848G= (p.Arg2283=)
c.6809G= (p.Arg2270=)
c.6755G= (p.Arg2252=)
c.6659G= (p.Arg2220=)
c.6629G= (p.Arg2210=)
c.6554G= (p.Arg2185=)
c.6452G= (p.Arg2151=)
c.6083G= (p.Arg2028=)
5g.112842526G>TCA16036450APCc.6986G>T (p.Arg2329Ile)
c.*6938G>T (n.*6938G>T)
c.6878G>T (p.Arg2293Ile)
c.6932G>T (p.Arg2311Ile)
c.*6254G>T (n.*6254G>T)
c.230+13554G>T
c.6962G>T (p.Arg2321Ile)
c.6857G>T (p.Arg2286Ile)
c.6848G>T (p.Arg2283Ile)
c.6809G>T (p.Arg2270Ile)
c.6755G>T (p.Arg2252Ile)
c.6659G>T (p.Arg2220Ile)
c.6629G>T (p.Arg2210Ile)
c.6554G>T (p.Arg2185Ile)
c.6452G>T (p.Arg2151Ile)
c.6083G>T (p.Arg2028Ile)
ClinVar dbSNP COSMIC
5g.112842527A=CA1573465356APCc.6987A= (p.Arg2329=)
c.*6939A= (n.*6939A=)
c.6879A= (p.Arg2293=)
c.6933A= (p.Arg2311=)
c.*6255A= (n.*6255A=)
c.230+13555A=
c.6963A= (p.Arg2321=)
c.6858A= (p.Arg2286=)
c.6849A= (p.Arg2283=)
c.6810A= (p.Arg2270=)
c.6756A= (p.Arg2252=)
c.6660A= (p.Arg2220=)
c.6630A= (p.Arg2210=)
c.6555A= (p.Arg2185=)
c.6453A= (p.Arg2151=)
c.6084A= (p.Arg2028=)
5g.112842527A>CCA16036451APCc.6987A>C (p.Arg2329Ser)
c.*6939A>C (n.*6939A>C)
c.6879A>C (p.Arg2293Ser)
c.6933A>C (p.Arg2311Ser)
c.*6255A>C (n.*6255A>C)
c.230+13555A>C
c.6963A>C (p.Arg2321Ser)
c.6858A>C (p.Arg2286Ser)
c.6849A>C (p.Arg2283Ser)
c.6810A>C (p.Arg2270Ser)
c.6756A>C (p.Arg2252Ser)
c.6660A>C (p.Arg2220Ser)
c.6630A>C (p.Arg2210Ser)
c.6555A>C (p.Arg2185Ser)
c.6453A>C (p.Arg2151Ser)
c.6084A>C (p.Arg2028Ser)
dbSNP
5g.112842527A>GCA046475APCc.6987A>G (p.Arg2329=)
c.*6939A>G (n.*6939A>G)
c.6879A>G (p.Arg2293=)
c.6933A>G (p.Arg2311=)
c.*6255A>G (n.*6255A>G)
c.230+13555A>G
c.6963A>G (p.Arg2321=)
c.6858A>G (p.Arg2286=)
c.6849A>G (p.Arg2283=)
c.6810A>G (p.Arg2270=)
c.6756A>G (p.Arg2252=)
c.6660A>G (p.Arg2220=)
c.6630A>G (p.Arg2210=)
c.6555A>G (p.Arg2185=)
c.6453A>G (p.Arg2151=)
c.6084A>G (p.Arg2028=)
ClinVar dbSNP ExAC gnomAD v2
5g.112842527A>TCA16036452APCc.6987A>T (p.Arg2329Ser)
c.*6939A>T (n.*6939A>T)
c.6879A>T (p.Arg2293Ser)
c.6933A>T (p.Arg2311Ser)
c.*6255A>T (n.*6255A>T)
c.230+13555A>T
c.6963A>T (p.Arg2321Ser)
c.6858A>T (p.Arg2286Ser)
c.6849A>T (p.Arg2283Ser)
c.6810A>T (p.Arg2270Ser)
c.6756A>T (p.Arg2252Ser)
c.6660A>T (p.Arg2220Ser)
c.6630A>T (p.Arg2210Ser)
c.6555A>T (p.Arg2185Ser)
c.6453A>T (p.Arg2151Ser)
c.6084A>T (p.Arg2028Ser)
dbSNP
5g.112842528C>ACA16036453APCc.6988C>A (p.Pro2330Thr)
c.*6940C>A (n.*6940C>A)
c.6880C>A (p.Pro2294Thr)
c.6934C>A (p.Pro2312Thr)
c.*6256C>A (n.*6256C>A)
c.230+13556C>A
c.6964C>A (p.Pro2322Thr)
c.6859C>A (p.Pro2287Thr)
c.6850C>A (p.Pro2284Thr)
c.6811C>A (p.Pro2271Thr)
c.6757C>A (p.Pro2253Thr)
c.6661C>A (p.Pro2221Thr)
c.6631C>A (p.Pro2211Thr)
c.6556C>A (p.Pro2186Thr)
c.6454C>A (p.Pro2152Thr)
c.6085C>A (p.Pro2029Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842528C=CA1573465361APCc.6988C= (p.Pro2330=)
c.*6940C= (n.*6940C=)
c.6880C= (p.Pro2294=)
c.6934C= (p.Pro2312=)
c.*6256C= (n.*6256C=)
c.230+13556C=
c.6964C= (p.Pro2322=)
c.6859C= (p.Pro2287=)
c.6850C= (p.Pro2284=)
c.6811C= (p.Pro2271=)
c.6757C= (p.Pro2253=)
c.6661C= (p.Pro2221=)
c.6631C= (p.Pro2211=)
c.6556C= (p.Pro2186=)
c.6454C= (p.Pro2152=)
c.6085C= (p.Pro2029=)
5g.112842528C>GCA16036454APCc.6988C>G (p.Pro2330Ala)
c.*6940C>G (n.*6940C>G)
c.6880C>G (p.Pro2294Ala)
c.6934C>G (p.Pro2312Ala)
c.*6256C>G (n.*6256C>G)
c.230+13556C>G
c.6964C>G (p.Pro2322Ala)
c.6859C>G (p.Pro2287Ala)
c.6850C>G (p.Pro2284Ala)
c.6811C>G (p.Pro2271Ala)
c.6757C>G (p.Pro2253Ala)
c.6661C>G (p.Pro2221Ala)
c.6631C>G (p.Pro2211Ala)
c.6556C>G (p.Pro2186Ala)
c.6454C>G (p.Pro2152Ala)
c.6085C>G (p.Pro2029Ala)
ClinVar dbSNP
5g.112842528C>TCA16036455APCc.6988C>T (p.Pro2330Ser)
c.*6940C>T (n.*6940C>T)
c.6880C>T (p.Pro2294Ser)
c.6934C>T (p.Pro2312Ser)
c.*6256C>T (n.*6256C>T)
c.230+13556C>T
c.6964C>T (p.Pro2322Ser)
c.6859C>T (p.Pro2287Ser)
c.6850C>T (p.Pro2284Ser)
c.6811C>T (p.Pro2271Ser)
c.6757C>T (p.Pro2253Ser)
c.6661C>T (p.Pro2221Ser)
c.6631C>T (p.Pro2211Ser)
c.6556C>T (p.Pro2186Ser)
c.6454C>T (p.Pro2152Ser)
c.6085C>T (p.Pro2029Ser)
ClinVar dbSNP
5g.112842529C>ACA16036456APCc.6989C>A (p.Pro2330His)
c.*6941C>A (n.*6941C>A)
c.6881C>A (p.Pro2294His)
c.6935C>A (p.Pro2312His)
c.*6257C>A (n.*6257C>A)
c.230+13557C>A
c.6965C>A (p.Pro2322His)
c.6860C>A (p.Pro2287His)
c.6851C>A (p.Pro2284His)
c.6812C>A (p.Pro2271His)
c.6758C>A (p.Pro2253His)
c.6662C>A (p.Pro2221His)
c.6632C>A (p.Pro2211His)
c.6557C>A (p.Pro2186His)
c.6455C>A (p.Pro2152His)
c.6086C>A (p.Pro2029His)
dbSNP
5g.112842529C>GCA16036457APCc.6989C>G (p.Pro2330Arg)
c.*6941C>G (n.*6941C>G)
c.6881C>G (p.Pro2294Arg)
c.6935C>G (p.Pro2312Arg)
c.*6257C>G (n.*6257C>G)
c.230+13557C>G
c.6965C>G (p.Pro2322Arg)
c.6860C>G (p.Pro2287Arg)
c.6851C>G (p.Pro2284Arg)
c.6812C>G (p.Pro2271Arg)
c.6758C>G (p.Pro2253Arg)
c.6662C>G (p.Pro2221Arg)
c.6632C>G (p.Pro2211Arg)
c.6557C>G (p.Pro2186Arg)
c.6455C>G (p.Pro2152Arg)
c.6086C>G (p.Pro2029Arg)
ClinVar dbSNP
5g.112842529C>TCA16036458APCc.6989C>T (p.Pro2330Leu)
c.*6941C>T (n.*6941C>T)
c.6881C>T (p.Pro2294Leu)
c.6935C>T (p.Pro2312Leu)
c.*6257C>T (n.*6257C>T)
c.230+13557C>T
c.6965C>T (p.Pro2322Leu)
c.6860C>T (p.Pro2287Leu)
c.6851C>T (p.Pro2284Leu)
c.6812C>T (p.Pro2271Leu)
c.6758C>T (p.Pro2253Leu)
c.6662C>T (p.Pro2221Leu)
c.6632C>T (p.Pro2211Leu)
c.6557C>T (p.Pro2186Leu)
c.6455C>T (p.Pro2152Leu)
c.6086C>T (p.Pro2029Leu)
ClinVar dbSNP
5g.112842530T>ACA446210528APCc.6990T>A (p.Pro2330=)
c.*6942T>A (n.*6942T>A)
c.6882T>A (p.Pro2294=)
c.6936T>A (p.Pro2312=)
c.*6258T>A (n.*6258T>A)
c.230+13558T>A
c.6966T>A (p.Pro2322=)
c.6861T>A (p.Pro2287=)
c.6852T>A (p.Pro2284=)
c.6813T>A (p.Pro2271=)
c.6759T>A (p.Pro2253=)
c.6663T>A (p.Pro2221=)
c.6633T>A (p.Pro2211=)
c.6558T>A (p.Pro2186=)
c.6456T>A (p.Pro2152=)
c.6087T>A (p.Pro2029=)
dbSNP
5g.112842530T>CCA446210531APCc.6990T>C (p.Pro2330=)
c.*6942T>C (n.*6942T>C)
c.6882T>C (p.Pro2294=)
c.6936T>C (p.Pro2312=)
c.*6258T>C (n.*6258T>C)
c.230+13558T>C
c.6966T>C (p.Pro2322=)
c.6861T>C (p.Pro2287=)
c.6852T>C (p.Pro2284=)
c.6813T>C (p.Pro2271=)
c.6759T>C (p.Pro2253=)
c.6663T>C (p.Pro2221=)
c.6633T>C (p.Pro2211=)
c.6558T>C (p.Pro2186=)
c.6456T>C (p.Pro2152=)
c.6087T>C (p.Pro2029=)
ClinVar dbSNP
5g.112842530T>GCA446210530APCc.6990T>G (p.Pro2330=)
c.*6942T>G (n.*6942T>G)
c.6882T>G (p.Pro2294=)
c.6936T>G (p.Pro2312=)
c.*6258T>G (n.*6258T>G)
c.230+13558T>G
c.6966T>G (p.Pro2322=)
c.6861T>G (p.Pro2287=)
c.6852T>G (p.Pro2284=)
c.6813T>G (p.Pro2271=)
c.6759T>G (p.Pro2253=)
c.6663T>G (p.Pro2221=)
c.6633T>G (p.Pro2211=)
c.6558T>G (p.Pro2186=)
c.6456T>G (p.Pro2152=)
c.6087T>G (p.Pro2029=)
ClinVar dbSNP
5g.112842530T=CA1573465364APCc.6990T= (p.Pro2330=)
c.*6942T= (n.*6942T=)
c.6882T= (p.Pro2294=)
c.6936T= (p.Pro2312=)
c.*6258T= (n.*6258T=)
c.230+13558T=
c.6966T= (p.Pro2322=)
c.6861T= (p.Pro2287=)
c.6852T= (p.Pro2284=)
c.6813T= (p.Pro2271=)
c.6759T= (p.Pro2253=)
c.6663T= (p.Pro2221=)
c.6633T= (p.Pro2211=)
c.6558T= (p.Pro2186=)
c.6456T= (p.Pro2152=)
c.6087T= (p.Pro2029=)
5g.112842531G>ACA16036459APCc.6991G>A (p.Ala2331Thr)
c.*6943G>A (n.*6943G>A)
c.6883G>A (p.Ala2295Thr)
c.6937G>A (p.Ala2313Thr)
c.*6259G>A (n.*6259G>A)
c.230+13559G>A
c.6967G>A (p.Ala2323Thr)
c.6862G>A (p.Ala2288Thr)
c.6853G>A (p.Ala2285Thr)
c.6814G>A (p.Ala2272Thr)
c.6760G>A (p.Ala2254Thr)
c.6664G>A (p.Ala2222Thr)
c.6634G>A (p.Ala2212Thr)
c.6559G>A (p.Ala2187Thr)
c.6457G>A (p.Ala2153Thr)
c.6088G>A (p.Ala2030Thr)
ClinVar dbSNP
5g.112842531G>CCA16036460APCc.6991G>C (p.Ala2331Pro)
c.*6943G>C (n.*6943G>C)
c.6883G>C (p.Ala2295Pro)
c.6937G>C (p.Ala2313Pro)
c.*6259G>C (n.*6259G>C)
c.230+13559G>C
c.6967G>C (p.Ala2323Pro)
c.6862G>C (p.Ala2288Pro)
c.6853G>C (p.Ala2285Pro)
c.6814G>C (p.Ala2272Pro)
c.6760G>C (p.Ala2254Pro)
c.6664G>C (p.Ala2222Pro)
c.6634G>C (p.Ala2212Pro)
c.6559G>C (p.Ala2187Pro)
c.6457G>C (p.Ala2153Pro)
c.6088G>C (p.Ala2030Pro)
5g.112842531G=CA1573465390APCc.6991G= (p.Ala2331=)
c.*6943G= (n.*6943G=)
c.6883G= (p.Ala2295=)
c.6937G= (p.Ala2313=)
c.*6259G= (n.*6259G=)
c.230+13559G=
c.6967G= (p.Ala2323=)
c.6862G= (p.Ala2288=)
c.6853G= (p.Ala2285=)
c.6814G= (p.Ala2272=)
c.6760G= (p.Ala2254=)
c.6664G= (p.Ala2222=)
c.6634G= (p.Ala2212=)
c.6559G= (p.Ala2187=)
c.6457G= (p.Ala2153=)
c.6088G= (p.Ala2030=)
5g.112842531G>TCA16036461APCc.6991G>T (p.Ala2331Ser)
c.*6943G>T (n.*6943G>T)
c.6883G>T (p.Ala2295Ser)
c.6937G>T (p.Ala2313Ser)
c.*6259G>T (n.*6259G>T)
c.230+13559G>T
c.6967G>T (p.Ala2323Ser)
c.6862G>T (p.Ala2288Ser)
c.6853G>T (p.Ala2285Ser)
c.6814G>T (p.Ala2272Ser)
c.6760G>T (p.Ala2254Ser)
c.6664G>T (p.Ala2222Ser)
c.6634G>T (p.Ala2212Ser)
c.6559G>T (p.Ala2187Ser)
c.6457G>T (p.Ala2153Ser)
c.6088G>T (p.Ala2030Ser)
dbSNP COSMIC
5g.112842531_112842532delCA2505881181APCc.6991_6992del (p.Ala2331ProfsTer6)
c.*6943_*6944del (n.*6943_*6944del)
c.6883_6884del (p.Ala2295ProfsTer6)
c.6937_6938del (p.Ala2313ProfsTer6)
c.*6259_*6260del (n.*6259_*6260del)
c.230+13559_230+13560del
c.6967_6968del (p.Ala2323ProfsTer6)
c.6862_6863del (p.Ala2288ProfsTer6)
c.6853_6854del (p.Ala2285ProfsTer6)
c.6814_6815del (p.Ala2272ProfsTer6)
c.6760_6761del (p.Ala2254ProfsTer6)
c.6664_6665del (p.Ala2222ProfsTer6)
c.6634_6635del (p.Ala2212ProfsTer6)
c.6559_6560del (p.Ala2187ProfsTer6)
c.6457_6458del (p.Ala2153ProfsTer6)
c.6088_6089del (p.Ala2030ProfsTer6)
5g.112842532C>ACA16036462APCc.6992C>A (p.Ala2331Asp)
c.*6944C>A (n.*6944C>A)
c.6884C>A (p.Ala2295Asp)
c.6938C>A (p.Ala2313Asp)
c.*6260C>A (n.*6260C>A)
c.230+13560C>A
c.6968C>A (p.Ala2323Asp)
c.6863C>A (p.Ala2288Asp)
c.6854C>A (p.Ala2285Asp)
c.6815C>A (p.Ala2272Asp)
c.6761C>A (p.Ala2254Asp)
c.6665C>A (p.Ala2222Asp)
c.6635C>A (p.Ala2212Asp)
c.6560C>A (p.Ala2187Asp)
c.6458C>A (p.Ala2153Asp)
c.6089C>A (p.Ala2030Asp)
ClinVar dbSNP
5g.112842532C>GCA16036463APCc.6992C>G (p.Ala2331Gly)
c.*6944C>G (n.*6944C>G)
c.6884C>G (p.Ala2295Gly)
c.6938C>G (p.Ala2313Gly)
c.*6260C>G (n.*6260C>G)
c.230+13560C>G
c.6968C>G (p.Ala2323Gly)
c.6863C>G (p.Ala2288Gly)
c.6854C>G (p.Ala2285Gly)
c.6815C>G (p.Ala2272Gly)
c.6761C>G (p.Ala2254Gly)
c.6665C>G (p.Ala2222Gly)
c.6635C>G (p.Ala2212Gly)
c.6560C>G (p.Ala2187Gly)
c.6458C>G (p.Ala2153Gly)
c.6089C>G (p.Ala2030Gly)
dbSNP
5g.112842532C>TCA16036464APCc.6992C>T (p.Ala2331Val)
c.*6944C>T (n.*6944C>T)
c.6884C>T (p.Ala2295Val)
c.6938C>T (p.Ala2313Val)
c.*6260C>T (n.*6260C>T)
c.230+13560C>T
c.6968C>T (p.Ala2323Val)
c.6863C>T (p.Ala2288Val)
c.6854C>T (p.Ala2285Val)
c.6815C>T (p.Ala2272Val)
c.6761C>T (p.Ala2254Val)
c.6665C>T (p.Ala2222Val)
c.6635C>T (p.Ala2212Val)
c.6560C>T (p.Ala2187Val)
c.6458C>T (p.Ala2153Val)
c.6089C>T (p.Ala2030Val)
ClinVar dbSNP
5g.112842533C>ACA446210535APCc.6993C>A (p.Ala2331=)
c.*6945C>A (n.*6945C>A)
c.6885C>A (p.Ala2295=)
c.6939C>A (p.Ala2313=)
c.*6261C>A (n.*6261C>A)
c.230+13561C>A
c.6969C>A (p.Ala2323=)
c.6864C>A (p.Ala2288=)
c.6855C>A (p.Ala2285=)
c.6816C>A (p.Ala2272=)
c.6762C>A (p.Ala2254=)
c.6666C>A (p.Ala2222=)
c.6636C>A (p.Ala2212=)
c.6561C>A (p.Ala2187=)
c.6459C>A (p.Ala2153=)
c.6090C>A (p.Ala2030=)
ClinVar dbSNP
5g.112842533C=CA1573465403APCc.6993C= (p.Ala2331=)
c.*6945C= (n.*6945C=)
c.6885C= (p.Ala2295=)
c.6939C= (p.Ala2313=)
c.*6261C= (n.*6261C=)
c.230+13561C=
c.6969C= (p.Ala2323=)
c.6864C= (p.Ala2288=)
c.6855C= (p.Ala2285=)
c.6816C= (p.Ala2272=)
c.6762C= (p.Ala2254=)
c.6666C= (p.Ala2222=)
c.6636C= (p.Ala2212=)
c.6561C= (p.Ala2187=)
c.6459C= (p.Ala2153=)
c.6090C= (p.Ala2030=)
5g.112842533C>GCA446210536APCc.6993C>G (p.Ala2331=)
c.*6945C>G (n.*6945C>G)
c.6885C>G (p.Ala2295=)
c.6939C>G (p.Ala2313=)
c.*6261C>G (n.*6261C>G)
c.230+13561C>G
c.6969C>G (p.Ala2323=)
c.6864C>G (p.Ala2288=)
c.6855C>G (p.Ala2285=)
c.6816C>G (p.Ala2272=)
c.6762C>G (p.Ala2254=)
c.6666C>G (p.Ala2222=)
c.6636C>G (p.Ala2212=)
c.6561C>G (p.Ala2187=)
c.6459C>G (p.Ala2153=)
c.6090C>G (p.Ala2030=)
dbSNP
5g.112842533C>TCA446210538APCc.6993C>T (p.Ala2331=)
c.*6945C>T (n.*6945C>T)
c.6885C>T (p.Ala2295=)
c.6939C>T (p.Ala2313=)
c.*6261C>T (n.*6261C>T)
c.230+13561C>T
c.6969C>T (p.Ala2323=)
c.6864C>T (p.Ala2288=)
c.6855C>T (p.Ala2285=)
c.6816C>T (p.Ala2272=)
c.6762C>T (p.Ala2254=)
c.6666C>T (p.Ala2222=)
c.6636C>T (p.Ala2212=)
c.6561C>T (p.Ala2187=)
c.6459C>T (p.Ala2153=)
c.6090C>T (p.Ala2030=)
dbSNP gnomAD v4
5g.112842534C>ACA16036465APCc.6994C>A (p.Gln2332Lys)
c.*6946C>A (n.*6946C>A)
c.6886C>A (p.Gln2296Lys)
c.6940C>A (p.Gln2314Lys)
c.*6262C>A (n.*6262C>A)
c.230+13562C>A
c.6970C>A (p.Gln2324Lys)
c.6865C>A (p.Gln2289Lys)
c.6856C>A (p.Gln2286Lys)
c.6817C>A (p.Gln2273Lys)
c.6763C>A (p.Gln2255Lys)
c.6667C>A (p.Gln2223Lys)
c.6637C>A (p.Gln2213Lys)
c.6562C>A (p.Gln2188Lys)
c.6460C>A (p.Gln2154Lys)
c.6091C>A (p.Gln2031Lys)
dbSNP
5g.112842534C>GCA16036466APCc.6994C>G (p.Gln2332Glu)
c.*6946C>G (n.*6946C>G)
c.6886C>G (p.Gln2296Glu)
c.6940C>G (p.Gln2314Glu)
c.*6262C>G (n.*6262C>G)
c.230+13562C>G
c.6970C>G (p.Gln2324Glu)
c.6865C>G (p.Gln2289Glu)
c.6856C>G (p.Gln2286Glu)
c.6817C>G (p.Gln2273Glu)
c.6763C>G (p.Gln2255Glu)
c.6667C>G (p.Gln2223Glu)
c.6637C>G (p.Gln2213Glu)
c.6562C>G (p.Gln2188Glu)
c.6460C>G (p.Gln2154Glu)
c.6091C>G (p.Gln2031Glu)
dbSNP
5g.112842534C>TCA16036467APCc.6994C>T (p.Gln2332Ter)
c.*6946C>T (n.*6946C>T)
c.6886C>T (p.Gln2296Ter)
c.6940C>T (p.Gln2314Ter)
c.*6262C>T (n.*6262C>T)
c.230+13562C>T
c.6970C>T (p.Gln2324Ter)
c.6865C>T (p.Gln2289Ter)
c.6856C>T (p.Gln2286Ter)
c.6817C>T (p.Gln2273Ter)
c.6763C>T (p.Gln2255Ter)
c.6667C>T (p.Gln2223Ter)
c.6637C>T (p.Gln2213Ter)
c.6562C>T (p.Gln2188Ter)
c.6460C>T (p.Gln2154Ter)
c.6091C>T (p.Gln2031Ter)
ClinVar dbSNP COSMIC
5g.112842535A=CA1573465411APCc.6995A= (p.Gln2332=)
c.*6947A= (n.*6947A=)
c.6887A= (p.Gln2296=)
c.6941A= (p.Gln2314=)
c.*6263A= (n.*6263A=)
c.230+13563A=
c.6971A= (p.Gln2324=)
c.6866A= (p.Gln2289=)
c.6857A= (p.Gln2286=)
c.6818A= (p.Gln2273=)
c.6764A= (p.Gln2255=)
c.6668A= (p.Gln2223=)
c.6638A= (p.Gln2213=)
c.6563A= (p.Gln2188=)
c.6461A= (p.Gln2154=)
c.6092A= (p.Gln2031=)
5g.112842535A>CCA16036468APCc.6995A>C (p.Gln2332Pro)
c.*6947A>C (n.*6947A>C)
c.6887A>C (p.Gln2296Pro)
c.6941A>C (p.Gln2314Pro)
c.*6263A>C (n.*6263A>C)
c.230+13563A>C
c.6971A>C (p.Gln2324Pro)
c.6866A>C (p.Gln2289Pro)
c.6857A>C (p.Gln2286Pro)
c.6818A>C (p.Gln2273Pro)
c.6764A>C (p.Gln2255Pro)
c.6668A>C (p.Gln2223Pro)
c.6638A>C (p.Gln2213Pro)
c.6563A>C (p.Gln2188Pro)
c.6461A>C (p.Gln2154Pro)
c.6092A>C (p.Gln2031Pro)
dbSNP
5g.112842535A>GCA16036469APCc.6995A>G (p.Gln2332Arg)
c.*6947A>G (n.*6947A>G)
c.6887A>G (p.Gln2296Arg)
c.6941A>G (p.Gln2314Arg)
c.*6263A>G (n.*6263A>G)
c.230+13563A>G
c.6971A>G (p.Gln2324Arg)
c.6866A>G (p.Gln2289Arg)
c.6857A>G (p.Gln2286Arg)
c.6818A>G (p.Gln2273Arg)
c.6764A>G (p.Gln2255Arg)
c.6668A>G (p.Gln2223Arg)
c.6638A>G (p.Gln2213Arg)
c.6563A>G (p.Gln2188Arg)
c.6461A>G (p.Gln2154Arg)
c.6092A>G (p.Gln2031Arg)
ClinVar dbSNP
5g.112842535A>TCA16036470APCc.6995A>T (p.Gln2332Leu)
c.*6947A>T (n.*6947A>T)
c.6887A>T (p.Gln2296Leu)
c.6941A>T (p.Gln2314Leu)
c.*6263A>T (n.*6263A>T)
c.230+13563A>T
c.6971A>T (p.Gln2324Leu)
c.6866A>T (p.Gln2289Leu)
c.6857A>T (p.Gln2286Leu)
c.6818A>T (p.Gln2273Leu)
c.6764A>T (p.Gln2255Leu)
c.6668A>T (p.Gln2223Leu)
c.6638A>T (p.Gln2213Leu)
c.6563A>T (p.Gln2188Leu)
c.6461A>T (p.Gln2154Leu)
c.6092A>T (p.Gln2031Leu)
dbSNP
5g.112842536G>ACA012674APCc.6996G>A (p.Gln2332=)
c.*6948G>A (n.*6948G>A)
c.6888G>A (p.Gln2296=)
c.6942G>A (p.Gln2314=)
c.*6264G>A (n.*6264G>A)
c.230+13564G>A
c.6972G>A (p.Gln2324=)
c.6867G>A (p.Gln2289=)
c.6858G>A (p.Gln2286=)
c.6819G>A (p.Gln2273=)
c.6765G>A (p.Gln2255=)
c.6669G>A (p.Gln2223=)
c.6639G>A (p.Gln2213=)
c.6564G>A (p.Gln2188=)
c.6462G>A (p.Gln2154=)
c.6093G>A (p.Gln2031=)
ClinVar dbSNP
5g.112842536G>CCA16036471APCc.6996G>C (p.Gln2332His)
c.*6948G>C (n.*6948G>C)
c.6888G>C (p.Gln2296His)
c.6942G>C (p.Gln2314His)
c.*6264G>C (n.*6264G>C)
c.230+13564G>C
c.6972G>C (p.Gln2324His)
c.6867G>C (p.Gln2289His)
c.6858G>C (p.Gln2286His)
c.6819G>C (p.Gln2273His)
c.6765G>C (p.Gln2255His)
c.6669G>C (p.Gln2223His)
c.6639G>C (p.Gln2213His)
c.6564G>C (p.Gln2188His)
c.6462G>C (p.Gln2154His)
c.6093G>C (p.Gln2031His)
dbSNP
5g.112842536G=CA1573465427APCc.6996G= (p.Gln2332=)
c.*6948G= (n.*6948G=)
c.6888G= (p.Gln2296=)
c.6942G= (p.Gln2314=)
c.*6264G= (n.*6264G=)
c.230+13564G=
c.6972G= (p.Gln2324=)
c.6867G= (p.Gln2289=)
c.6858G= (p.Gln2286=)
c.6819G= (p.Gln2273=)
c.6765G= (p.Gln2255=)
c.6669G= (p.Gln2223=)
c.6639G= (p.Gln2213=)
c.6564G= (p.Gln2188=)
c.6462G= (p.Gln2154=)
c.6093G= (p.Gln2031=)
5g.112842536G>TCA16036472APCc.6996G>T (p.Gln2332His)
c.*6948G>T (n.*6948G>T)
c.6888G>T (p.Gln2296His)
c.6942G>T (p.Gln2314His)
c.*6264G>T (n.*6264G>T)
c.230+13564G>T
c.6972G>T (p.Gln2324His)
c.6867G>T (p.Gln2289His)
c.6858G>T (p.Gln2286His)
c.6819G>T (p.Gln2273His)
c.6765G>T (p.Gln2255His)
c.6669G>T (p.Gln2223His)
c.6639G>T (p.Gln2213His)
c.6564G>T (p.Gln2188His)
c.6462G>T (p.Gln2154His)
c.6093G>T (p.Gln2031His)
dbSNP
5g.112842537C>ACA16036473APCc.6997C>A (p.Gln2333Lys)
c.*6949C>A (n.*6949C>A)
c.6889C>A (p.Gln2297Lys)
c.6943C>A (p.Gln2315Lys)
c.*6265C>A (n.*6265C>A)
c.230+13565C>A
c.6973C>A (p.Gln2325Lys)
c.6868C>A (p.Gln2290Lys)
c.6859C>A (p.Gln2287Lys)
c.6820C>A (p.Gln2274Lys)
c.6766C>A (p.Gln2256Lys)
c.6670C>A (p.Gln2224Lys)
c.6640C>A (p.Gln2214Lys)
c.6565C>A (p.Gln2189Lys)
c.6463C>A (p.Gln2155Lys)
c.6094C>A (p.Gln2032Lys)
5g.112842537C>GCA16036474APCc.6997C>G (p.Gln2333Glu)
c.*6949C>G (n.*6949C>G)
c.6889C>G (p.Gln2297Glu)
c.6943C>G (p.Gln2315Glu)
c.*6265C>G (n.*6265C>G)
c.230+13565C>G
c.6973C>G (p.Gln2325Glu)
c.6868C>G (p.Gln2290Glu)
c.6859C>G (p.Gln2287Glu)
c.6820C>G (p.Gln2274Glu)
c.6766C>G (p.Gln2256Glu)
c.6670C>G (p.Gln2224Glu)
c.6640C>G (p.Gln2214Glu)
c.6565C>G (p.Gln2189Glu)
c.6463C>G (p.Gln2155Glu)
c.6094C>G (p.Gln2032Glu)
dbSNP
5g.112842537C>TCA16036475APCc.6997C>T (p.Gln2333Ter)
c.*6949C>T (n.*6949C>T)
c.6889C>T (p.Gln2297Ter)
c.6943C>T (p.Gln2315Ter)
c.*6265C>T (n.*6265C>T)
c.230+13565C>T
c.6973C>T (p.Gln2325Ter)
c.6868C>T (p.Gln2290Ter)
c.6859C>T (p.Gln2287Ter)
c.6820C>T (p.Gln2274Ter)
c.6766C>T (p.Gln2256Ter)
c.6670C>T (p.Gln2224Ter)
c.6640C>T (p.Gln2214Ter)
c.6565C>T (p.Gln2189Ter)
c.6463C>T (p.Gln2155Ter)
c.6094C>T (p.Gln2032Ter)
gnomAD v4
5g.112842538A=CA1573465434APCc.6998A= (p.Gln2333=)
c.*6950A= (n.*6950A=)
c.6890A= (p.Gln2297=)
c.6944A= (p.Gln2315=)
c.*6266A= (n.*6266A=)
c.230+13566A=
c.6974A= (p.Gln2325=)
c.6869A= (p.Gln2290=)
c.6860A= (p.Gln2287=)
c.6821A= (p.Gln2274=)
c.6767A= (p.Gln2256=)
c.6671A= (p.Gln2224=)
c.6641A= (p.Gln2214=)
c.6566A= (p.Gln2189=)
c.6464A= (p.Gln2155=)
c.6095A= (p.Gln2032=)
5g.112842538A>CCA16036476APCc.6998A>C (p.Gln2333Pro)
c.*6950A>C (n.*6950A>C)
c.6890A>C (p.Gln2297Pro)
c.6944A>C (p.Gln2315Pro)
c.*6266A>C (n.*6266A>C)
c.230+13566A>C
c.6974A>C (p.Gln2325Pro)
c.6869A>C (p.Gln2290Pro)
c.6860A>C (p.Gln2287Pro)
c.6821A>C (p.Gln2274Pro)
c.6767A>C (p.Gln2256Pro)
c.6671A>C (p.Gln2224Pro)
c.6641A>C (p.Gln2214Pro)
c.6566A>C (p.Gln2189Pro)
c.6464A>C (p.Gln2155Pro)
c.6095A>C (p.Gln2032Pro)
dbSNP
5g.112842538A>GCA16036477APCc.6998A>G (p.Gln2333Arg)
c.*6950A>G (n.*6950A>G)
c.6890A>G (p.Gln2297Arg)
c.6944A>G (p.Gln2315Arg)
c.*6266A>G (n.*6266A>G)
c.230+13566A>G
c.6974A>G (p.Gln2325Arg)
c.6869A>G (p.Gln2290Arg)
c.6860A>G (p.Gln2287Arg)
c.6821A>G (p.Gln2274Arg)
c.6767A>G (p.Gln2256Arg)
c.6671A>G (p.Gln2224Arg)
c.6641A>G (p.Gln2214Arg)
c.6566A>G (p.Gln2189Arg)
c.6464A>G (p.Gln2155Arg)
c.6095A>G (p.Gln2032Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842538A>TCA16036478APCc.6998A>T (p.Gln2333Leu)
c.*6950A>T (n.*6950A>T)
c.6890A>T (p.Gln2297Leu)
c.6944A>T (p.Gln2315Leu)
c.*6266A>T (n.*6266A>T)
c.230+13566A>T
c.6974A>T (p.Gln2325Leu)
c.6869A>T (p.Gln2290Leu)
c.6860A>T (p.Gln2287Leu)
c.6821A>T (p.Gln2274Leu)
c.6767A>T (p.Gln2256Leu)
c.6671A>T (p.Gln2224Leu)
c.6641A>T (p.Gln2214Leu)
c.6566A>T (p.Gln2189Leu)
c.6464A>T (p.Gln2155Leu)
c.6095A>T (p.Gln2032Leu)
dbSNP
5g.112842538_112842539delCA2573138701APCc.6998_6999del (p.Gln2333ProfsTer4)
c.*6950_*6951del (n.*6950_*6951del)
c.6890_6891del (p.Gln2297ProfsTer4)
c.6944_6945del (p.Gln2315ProfsTer4)
c.*6266_*6267del (n.*6266_*6267del)
c.230+13566_230+13567del
c.6974_6975del (p.Gln2325ProfsTer4)
c.6869_6870del (p.Gln2290ProfsTer4)
c.6860_6861del (p.Gln2287ProfsTer4)
c.6821_6822del (p.Gln2274ProfsTer4)
c.6767_6768del (p.Gln2256ProfsTer4)
c.6671_6672del (p.Gln2224ProfsTer4)
c.6641_6642del (p.Gln2214ProfsTer4)
c.6566_6567del (p.Gln2189ProfsTer4)
c.6464_6465del (p.Gln2155ProfsTer4)
c.6095_6096del (p.Gln2032ProfsTer4)
ClinVar dbSNP
5g.112842538_112842550delinsAACCATTAAGTAGCA1573465435APCc.6998_7010delinsAACCATTAAGTAG (p.Gln2333=)
c.*6950_*6962delinsAACCATTAAGTAG (n.*6950_*6962delinsAACCATTAAGTAG)
c.6890_6902delinsAACCATTAAGTAG (p.Gln2297=)
c.6944_6956delinsAACCATTAAGTAG (p.Gln2315=)
c.*6266_*6278delinsAACCATTAAGTAG (n.*6266_*6278delinsAACCATTAAGTAG)
c.230+13566_230+13578delinsAACCATTAAGTAG
c.6974_6986delinsAACCATTAAGTAG (p.Gln2325=)
c.6869_6881delinsAACCATTAAGTAG (p.Gln2290=)
c.6860_6872delinsAACCATTAAGTAG (p.Gln2287=)
c.6821_6833delinsAACCATTAAGTAG (p.Gln2274=)
c.6767_6779delinsAACCATTAAGTAG (p.Gln2256=)
c.6671_6683delinsAACCATTAAGTAG (p.Gln2224=)
c.6641_6653delinsAACCATTAAGTAG (p.Gln2214=)
c.6566_6578delinsAACCATTAAGTAG (p.Gln2189=)
c.6464_6476delinsAACCATTAAGTAG (p.Gln2155=)
c.6095_6107delinsAACCATTAAGTAG (p.Gln2032=)
5g.112842539A=CA1573465445APCc.6999A= (p.Gln2333=)
c.*6951A= (n.*6951A=)
c.6891A= (p.Gln2297=)
c.6945A= (p.Gln2315=)
c.*6267A= (n.*6267A=)
c.230+13567A=
c.6975A= (p.Gln2325=)
c.6870A= (p.Gln2290=)
c.6861A= (p.Gln2287=)
c.6822A= (p.Gln2274=)
c.6768A= (p.Gln2256=)
c.6672A= (p.Gln2224=)
c.6642A= (p.Gln2214=)
c.6567A= (p.Gln2189=)
c.6465A= (p.Gln2155=)
c.6096A= (p.Gln2032=)
5g.112842539A>CCA16036479APCc.6999A>C (p.Gln2333His)
c.*6951A>C (n.*6951A>C)
c.6891A>C (p.Gln2297His)
c.6945A>C (p.Gln2315His)
c.*6267A>C (n.*6267A>C)
c.230+13567A>C
c.6975A>C (p.Gln2325His)
c.6870A>C (p.Gln2290His)
c.6861A>C (p.Gln2287His)
c.6822A>C (p.Gln2274His)
c.6768A>C (p.Gln2256His)
c.6672A>C (p.Gln2224His)
c.6642A>C (p.Gln2214His)
c.6567A>C (p.Gln2189His)
c.6465A>C (p.Gln2155His)
c.6096A>C (p.Gln2032His)
dbSNP
5g.112842539A>GCA012684APCc.6999A>G (p.Gln2333=)
c.*6951A>G (n.*6951A>G)
c.6891A>G (p.Gln2297=)
c.6945A>G (p.Gln2315=)
c.*6267A>G (n.*6267A>G)
c.230+13567A>G
c.6975A>G (p.Gln2325=)
c.6870A>G (p.Gln2290=)
c.6861A>G (p.Gln2287=)
c.6822A>G (p.Gln2274=)
c.6768A>G (p.Gln2256=)
c.6672A>G (p.Gln2224=)
c.6642A>G (p.Gln2214=)
c.6567A>G (p.Gln2189=)
c.6465A>G (p.Gln2155=)
c.6096A>G (p.Gln2032=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112842539A>TCA16036480APCc.6999A>T (p.Gln2333His)
c.*6951A>T (n.*6951A>T)
c.6891A>T (p.Gln2297His)
c.6945A>T (p.Gln2315His)
c.*6267A>T (n.*6267A>T)
c.230+13567A>T
c.6975A>T (p.Gln2325His)
c.6870A>T (p.Gln2290His)
c.6861A>T (p.Gln2287His)
c.6822A>T (p.Gln2274His)
c.6768A>T (p.Gln2256His)
c.6672A>T (p.Gln2224His)
c.6642A>T (p.Gln2214His)
c.6567A>T (p.Gln2189His)
c.6465A>T (p.Gln2155His)
c.6096A>T (p.Gln2032His)
5g.112842542_112842553delCA913188187APCc.7002_7013del (p.Leu2335_Pro2338del)
c.*6954_*6965del (n.*6954_*6965del)
c.6894_6905del (p.Leu2299_Pro2302del)
c.6948_6959del (p.Leu2317_Pro2320del)
c.*6270_*6281del (n.*6270_*6281del)
c.230+13570_230+13581del
c.6978_6989del (p.Leu2327_Pro2330del)
c.6873_6884del (p.Leu2292_Pro2295del)
c.6864_6875del (p.Leu2289_Pro2292del)
c.6825_6836del (p.Leu2276_Pro2279del)
c.6771_6782del (p.Leu2258_Pro2261del)
c.6675_6686del (p.Leu2226_Pro2229del)
c.6645_6656del (p.Leu2216_Pro2219del)
c.6570_6581del (p.Leu2191_Pro2194del)
c.6468_6479del (p.Leu2157_Pro2160del)
c.6099_6110del (p.Leu2034_Pro2037del)
ClinVar dbSNP
5g.112842540C>ACA16036481APCc.7000C>A (p.Pro2334Thr)
c.*6952C>A (n.*6952C>A)
c.6892C>A (p.Pro2298Thr)
c.6946C>A (p.Pro2316Thr)
c.*6268C>A (n.*6268C>A)
c.230+13568C>A
c.6976C>A (p.Pro2326Thr)
c.6871C>A (p.Pro2291Thr)
c.6862C>A (p.Pro2288Thr)
c.6823C>A (p.Pro2275Thr)
c.6769C>A (p.Pro2257Thr)
c.6673C>A (p.Pro2225Thr)
c.6643C>A (p.Pro2215Thr)
c.6568C>A (p.Pro2190Thr)
c.6466C>A (p.Pro2156Thr)
c.6097C>A (p.Pro2033Thr)
dbSNP gnomAD v4
5g.112842540C>GCA16036482APCc.7000C>G (p.Pro2334Ala)
c.*6952C>G (n.*6952C>G)
c.6892C>G (p.Pro2298Ala)
c.6946C>G (p.Pro2316Ala)
c.*6268C>G (n.*6268C>G)
c.230+13568C>G
c.6976C>G (p.Pro2326Ala)
c.6871C>G (p.Pro2291Ala)
c.6862C>G (p.Pro2288Ala)
c.6823C>G (p.Pro2275Ala)
c.6769C>G (p.Pro2257Ala)
c.6673C>G (p.Pro2225Ala)
c.6643C>G (p.Pro2215Ala)
c.6568C>G (p.Pro2190Ala)
c.6466C>G (p.Pro2156Ala)
c.6097C>G (p.Pro2033Ala)
5g.112842540C>TCA16036483APCc.7000C>T (p.Pro2334Ser)
c.*6952C>T (n.*6952C>T)
c.6892C>T (p.Pro2298Ser)
c.6946C>T (p.Pro2316Ser)
c.*6268C>T (n.*6268C>T)
c.230+13568C>T
c.6976C>T (p.Pro2326Ser)
c.6871C>T (p.Pro2291Ser)
c.6862C>T (p.Pro2288Ser)
c.6823C>T (p.Pro2275Ser)
c.6769C>T (p.Pro2257Ser)
c.6673C>T (p.Pro2225Ser)
c.6643C>T (p.Pro2215Ser)
c.6568C>T (p.Pro2190Ser)
c.6466C>T (p.Pro2156Ser)
c.6097C>T (p.Pro2033Ser)
ClinVar dbSNP gnomAD v4
5g.112842541C>ACA16036484APCc.7001C>A (p.Pro2334Gln)
c.*6953C>A (n.*6953C>A)
c.6893C>A (p.Pro2298Gln)
c.6947C>A (p.Pro2316Gln)
c.*6269C>A (n.*6269C>A)
c.230+13569C>A
c.6977C>A (p.Pro2326Gln)
c.6872C>A (p.Pro2291Gln)
c.6863C>A (p.Pro2288Gln)
c.6824C>A (p.Pro2275Gln)
c.6770C>A (p.Pro2257Gln)
c.6674C>A (p.Pro2225Gln)
c.6644C>A (p.Pro2215Gln)
c.6569C>A (p.Pro2190Gln)
c.6467C>A (p.Pro2156Gln)
c.6098C>A (p.Pro2033Gln)
dbSNP
5g.112842541C=CA1573465459APCc.7001C= (p.Pro2334=)
c.*6953C= (n.*6953C=)
c.6893C= (p.Pro2298=)
c.6947C= (p.Pro2316=)
c.*6269C= (n.*6269C=)
c.230+13569C=
c.6977C= (p.Pro2326=)
c.6872C= (p.Pro2291=)
c.6863C= (p.Pro2288=)
c.6824C= (p.Pro2275=)
c.6770C= (p.Pro2257=)
c.6674C= (p.Pro2225=)
c.6644C= (p.Pro2215=)
c.6569C= (p.Pro2190=)
c.6467C= (p.Pro2156=)
c.6098C= (p.Pro2033=)
5g.112842541C>GCA16036485APCc.7001C>G (p.Pro2334Arg)
c.*6953C>G (n.*6953C>G)
c.6893C>G (p.Pro2298Arg)
c.6947C>G (p.Pro2316Arg)
c.*6269C>G (n.*6269C>G)
c.230+13569C>G
c.6977C>G (p.Pro2326Arg)
c.6872C>G (p.Pro2291Arg)
c.6863C>G (p.Pro2288Arg)
c.6824C>G (p.Pro2275Arg)
c.6770C>G (p.Pro2257Arg)
c.6674C>G (p.Pro2225Arg)
c.6644C>G (p.Pro2215Arg)
c.6569C>G (p.Pro2190Arg)
c.6467C>G (p.Pro2156Arg)
c.6098C>G (p.Pro2033Arg)
dbSNP
5g.112842541C>TCA16036486APCc.7001C>T (p.Pro2334Leu)
c.*6953C>T (n.*6953C>T)
c.6893C>T (p.Pro2298Leu)
c.6947C>T (p.Pro2316Leu)
c.*6269C>T (n.*6269C>T)
c.230+13569C>T
c.6977C>T (p.Pro2326Leu)
c.6872C>T (p.Pro2291Leu)
c.6863C>T (p.Pro2288Leu)
c.6824C>T (p.Pro2275Leu)
c.6770C>T (p.Pro2257Leu)
c.6674C>T (p.Pro2225Leu)
c.6644C>T (p.Pro2215Leu)
c.6569C>T (p.Pro2190Leu)
c.6467C>T (p.Pro2156Leu)
c.6098C>T (p.Pro2033Leu)
ClinVar dbSNP
5g.112842542A=CA1573465464APCc.7002A= (p.Pro2334=)
c.*6954A= (n.*6954A=)
c.6894A= (p.Pro2298=)
c.6948A= (p.Pro2316=)
c.*6270A= (n.*6270A=)
c.230+13570A=
c.6978A= (p.Pro2326=)
c.6873A= (p.Pro2291=)
c.6864A= (p.Pro2288=)
c.6825A= (p.Pro2275=)
c.6771A= (p.Pro2257=)
c.6675A= (p.Pro2225=)
c.6645A= (p.Pro2215=)
c.6570A= (p.Pro2190=)
c.6468A= (p.Pro2156=)
c.6099A= (p.Pro2033=)
5g.112842542A>CCA446210547APCc.7002A>C (p.Pro2334=)
c.*6954A>C (n.*6954A>C)
c.6894A>C (p.Pro2298=)
c.6948A>C (p.Pro2316=)
c.*6270A>C (n.*6270A>C)
c.230+13570A>C
c.6978A>C (p.Pro2326=)
c.6873A>C (p.Pro2291=)
c.6864A>C (p.Pro2288=)
c.6825A>C (p.Pro2275=)
c.6771A>C (p.Pro2257=)
c.6675A>C (p.Pro2225=)
c.6645A>C (p.Pro2215=)
c.6570A>C (p.Pro2190=)
c.6468A>C (p.Pro2156=)
c.6099A>C (p.Pro2033=)
5g.112842542A>GCA046486APCc.7002A>G (p.Pro2334=)
c.*6954A>G (n.*6954A>G)
c.6894A>G (p.Pro2298=)
c.6948A>G (p.Pro2316=)
c.*6270A>G (n.*6270A>G)
c.230+13570A>G
c.6978A>G (p.Pro2326=)
c.6873A>G (p.Pro2291=)
c.6864A>G (p.Pro2288=)
c.6825A>G (p.Pro2275=)
c.6771A>G (p.Pro2257=)
c.6675A>G (p.Pro2225=)
c.6645A>G (p.Pro2215=)
c.6570A>G (p.Pro2190=)
c.6468A>G (p.Pro2156=)
c.6099A>G (p.Pro2033=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842542A>TCA446210548APCc.7002A>T (p.Pro2334=)
c.*6954A>T (n.*6954A>T)
c.6894A>T (p.Pro2298=)
c.6948A>T (p.Pro2316=)
c.*6270A>T (n.*6270A>T)
c.230+13570A>T
c.6978A>T (p.Pro2326=)
c.6873A>T (p.Pro2291=)
c.6864A>T (p.Pro2288=)
c.6825A>T (p.Pro2275=)
c.6771A>T (p.Pro2257=)
c.6675A>T (p.Pro2225=)
c.6645A>T (p.Pro2215=)
c.6570A>T (p.Pro2190=)
c.6468A>T (p.Pro2156=)
c.6099A>T (p.Pro2033=)
5g.112842543T>ACA16036487APCc.7003T>A (p.Leu2335Ile)
c.*6955T>A (n.*6955T>A)
c.6895T>A (p.Leu2299Ile)
c.6949T>A (p.Leu2317Ile)
c.*6271T>A (n.*6271T>A)
c.230+13571T>A
c.6979T>A (p.Leu2327Ile)
c.6874T>A (p.Leu2292Ile)
c.6865T>A (p.Leu2289Ile)
c.6826T>A (p.Leu2276Ile)
c.6772T>A (p.Leu2258Ile)
c.6676T>A (p.Leu2226Ile)
c.6646T>A (p.Leu2216Ile)
c.6571T>A (p.Leu2191Ile)
c.6469T>A (p.Leu2157Ile)
c.6100T>A (p.Leu2034Ile)
ClinVar dbSNP
5g.112842543T>CCA446210550APCc.7003T>C (p.Leu2335=)
c.*6955T>C (n.*6955T>C)
c.6895T>C (p.Leu2299=)
c.6949T>C (p.Leu2317=)
c.*6271T>C (n.*6271T>C)
c.230+13571T>C
c.6979T>C (p.Leu2327=)
c.6874T>C (p.Leu2292=)
c.6865T>C (p.Leu2289=)
c.6826T>C (p.Leu2276=)
c.6772T>C (p.Leu2258=)
c.6676T>C (p.Leu2226=)
c.6646T>C (p.Leu2216=)
c.6571T>C (p.Leu2191=)
c.6469T>C (p.Leu2157=)
c.6100T>C (p.Leu2034=)
dbSNP
5g.112842543T>GCA16036488APCc.7003T>G (p.Leu2335Val)
c.*6955T>G (n.*6955T>G)
c.6895T>G (p.Leu2299Val)
c.6949T>G (p.Leu2317Val)
c.*6271T>G (n.*6271T>G)
c.230+13571T>G
c.6979T>G (p.Leu2327Val)
c.6874T>G (p.Leu2292Val)
c.6865T>G (p.Leu2289Val)
c.6826T>G (p.Leu2276Val)
c.6772T>G (p.Leu2258Val)
c.6676T>G (p.Leu2226Val)
c.6646T>G (p.Leu2216Val)
c.6571T>G (p.Leu2191Val)
c.6469T>G (p.Leu2157Val)
c.6100T>G (p.Leu2034Val)
dbSNP
5g.112842543T=CA1573465478APCc.7003T= (p.Leu2335=)
c.*6955T= (n.*6955T=)
c.6895T= (p.Leu2299=)
c.6949T= (p.Leu2317=)
c.*6271T= (n.*6271T=)
c.230+13571T=
c.6979T= (p.Leu2327=)
c.6874T= (p.Leu2292=)
c.6865T= (p.Leu2289=)
c.6826T= (p.Leu2276=)
c.6772T= (p.Leu2258=)
c.6676T= (p.Leu2226=)
c.6646T= (p.Leu2216=)
c.6571T= (p.Leu2191=)
c.6469T= (p.Leu2157=)
c.6100T= (p.Leu2034=)
5g.112842544T>ACA16036489APCc.7004T>A (p.Leu2335Ter)
c.*6956T>A (n.*6956T>A)
c.6896T>A (p.Leu2299Ter)
c.6950T>A (p.Leu2317Ter)
c.*6272T>A (n.*6272T>A)
c.230+13572T>A
c.6980T>A (p.Leu2327Ter)
c.6875T>A (p.Leu2292Ter)
c.6866T>A (p.Leu2289Ter)
c.6827T>A (p.Leu2276Ter)
c.6773T>A (p.Leu2258Ter)
c.6677T>A (p.Leu2226Ter)
c.6647T>A (p.Leu2216Ter)
c.6572T>A (p.Leu2191Ter)
c.6470T>A (p.Leu2157Ter)
c.6101T>A (p.Leu2034Ter)
5g.112842544T>CCA046501APCc.7004T>C (p.Leu2335Ser)
c.*6956T>C (n.*6956T>C)
c.6896T>C (p.Leu2299Ser)
c.6950T>C (p.Leu2317Ser)
c.*6272T>C (n.*6272T>C)
c.230+13572T>C
c.6980T>C (p.Leu2327Ser)
c.6875T>C (p.Leu2292Ser)
c.6866T>C (p.Leu2289Ser)
c.6827T>C (p.Leu2276Ser)
c.6773T>C (p.Leu2258Ser)
c.6677T>C (p.Leu2226Ser)
c.6647T>C (p.Leu2216Ser)
c.6572T>C (p.Leu2191Ser)
c.6470T>C (p.Leu2157Ser)
c.6101T>C (p.Leu2034Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842544T>GCA16036490APCc.7004T>G (p.Leu2335Ter)
c.*6956T>G (n.*6956T>G)
c.6896T>G (p.Leu2299Ter)
c.6950T>G (p.Leu2317Ter)
c.*6272T>G (n.*6272T>G)
c.230+13572T>G
c.6980T>G (p.Leu2327Ter)
c.6875T>G (p.Leu2292Ter)
c.6866T>G (p.Leu2289Ter)
c.6827T>G (p.Leu2276Ter)
c.6773T>G (p.Leu2258Ter)
c.6677T>G (p.Leu2226Ter)
c.6647T>G (p.Leu2216Ter)
c.6572T>G (p.Leu2191Ter)
c.6470T>G (p.Leu2157Ter)
c.6101T>G (p.Leu2034Ter)
ClinVar
5g.112842544T=CA1573465483APCc.7004T= (p.Leu2335=)
c.*6956T= (n.*6956T=)
c.6896T= (p.Leu2299=)
c.6950T= (p.Leu2317=)
c.*6272T= (n.*6272T=)
c.230+13572T=
c.6980T= (p.Leu2327=)
c.6875T= (p.Leu2292=)
c.6866T= (p.Leu2289=)
c.6827T= (p.Leu2276=)
c.6773T= (p.Leu2258=)
c.6677T= (p.Leu2226=)
c.6647T= (p.Leu2216=)
c.6572T= (p.Leu2191=)
c.6470T= (p.Leu2157=)
c.6101T= (p.Leu2034=)
5g.112842545A>CCA16036491APCc.7005A>C (p.Leu2335Phe)
c.*6957A>C (n.*6957A>C)
c.6897A>C (p.Leu2299Phe)
c.6951A>C (p.Leu2317Phe)
c.*6273A>C (n.*6273A>C)
c.230+13573A>C
c.6981A>C (p.Leu2327Phe)
c.6876A>C (p.Leu2292Phe)
c.6867A>C (p.Leu2289Phe)
c.6828A>C (p.Leu2276Phe)
c.6774A>C (p.Leu2258Phe)
c.6678A>C (p.Leu2226Phe)
c.6648A>C (p.Leu2216Phe)
c.6573A>C (p.Leu2191Phe)
c.6471A>C (p.Leu2157Phe)
c.6102A>C (p.Leu2034Phe)
5g.112842545A>GCA446210551APCc.7005A>G (p.Leu2335=)
c.*6957A>G (n.*6957A>G)
c.6897A>G (p.Leu2299=)
c.6951A>G (p.Leu2317=)
c.*6273A>G (n.*6273A>G)
c.230+13573A>G
c.6981A>G (p.Leu2327=)
c.6876A>G (p.Leu2292=)
c.6867A>G (p.Leu2289=)
c.6828A>G (p.Leu2276=)
c.6774A>G (p.Leu2258=)
c.6678A>G (p.Leu2226=)
c.6648A>G (p.Leu2216=)
c.6573A>G (p.Leu2191=)
c.6471A>G (p.Leu2157=)
c.6102A>G (p.Leu2034=)
5g.112842545A>TCA16036492APCc.7005A>T (p.Leu2335Phe)
c.*6957A>T (n.*6957A>T)
c.6897A>T (p.Leu2299Phe)
c.6951A>T (p.Leu2317Phe)
c.*6273A>T (n.*6273A>T)
c.230+13573A>T
c.6981A>T (p.Leu2327Phe)
c.6876A>T (p.Leu2292Phe)
c.6867A>T (p.Leu2289Phe)
c.6828A>T (p.Leu2276Phe)
c.6774A>T (p.Leu2258Phe)
c.6678A>T (p.Leu2226Phe)
c.6648A>T (p.Leu2216Phe)
c.6573A>T (p.Leu2191Phe)
c.6471A>T (p.Leu2157Phe)
c.6102A>T (p.Leu2034Phe)
5g.112842546A=CA1573465511APCc.7006A= (p.Ser2336=)
c.*6958A= (n.*6958A=)
c.6898A= (p.Ser2300=)
c.6952A= (p.Ser2318=)
c.*6274A= (n.*6274A=)
c.230+13574A=
c.6982A= (p.Ser2328=)
c.6877A= (p.Ser2293=)
c.6868A= (p.Ser2290=)
c.6829A= (p.Ser2277=)
c.6775A= (p.Ser2259=)
c.6679A= (p.Ser2227=)
c.6649A= (p.Ser2217=)
c.6574A= (p.Ser2192=)
c.6472A= (p.Ser2158=)
c.6103A= (p.Ser2035=)
5g.112842546A>CCA16036493APCc.7006A>C (p.Ser2336Arg)
c.*6958A>C (n.*6958A>C)
c.6898A>C (p.Ser2300Arg)
c.6952A>C (p.Ser2318Arg)
c.*6274A>C (n.*6274A>C)
c.230+13574A>C
c.6982A>C (p.Ser2328Arg)
c.6877A>C (p.Ser2293Arg)
c.6868A>C (p.Ser2290Arg)
c.6829A>C (p.Ser2277Arg)
c.6775A>C (p.Ser2259Arg)
c.6679A>C (p.Ser2227Arg)
c.6649A>C (p.Ser2217Arg)
c.6574A>C (p.Ser2192Arg)
c.6472A>C (p.Ser2158Arg)
c.6103A>C (p.Ser2035Arg)
5g.112842546A>GCA046510APCc.7006A>G (p.Ser2336Gly)
c.*6958A>G (n.*6958A>G)
c.6898A>G (p.Ser2300Gly)
c.6952A>G (p.Ser2318Gly)
c.*6274A>G (n.*6274A>G)
c.230+13574A>G
c.6982A>G (p.Ser2328Gly)
c.6877A>G (p.Ser2293Gly)
c.6868A>G (p.Ser2290Gly)
c.6829A>G (p.Ser2277Gly)
c.6775A>G (p.Ser2259Gly)
c.6679A>G (p.Ser2227Gly)
c.6649A>G (p.Ser2217Gly)
c.6574A>G (p.Ser2192Gly)
c.6472A>G (p.Ser2158Gly)
c.6103A>G (p.Ser2035Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842546A>TCA16036494APCc.7006A>T (p.Ser2336Cys)
c.*6958A>T (n.*6958A>T)
c.6898A>T (p.Ser2300Cys)
c.6952A>T (p.Ser2318Cys)
c.*6274A>T (n.*6274A>T)
c.230+13574A>T
c.6982A>T (p.Ser2328Cys)
c.6877A>T (p.Ser2293Cys)
c.6868A>T (p.Ser2290Cys)
c.6829A>T (p.Ser2277Cys)
c.6775A>T (p.Ser2259Cys)
c.6679A>T (p.Ser2227Cys)
c.6649A>T (p.Ser2217Cys)
c.6574A>T (p.Ser2192Cys)
c.6472A>T (p.Ser2158Cys)
c.6103A>T (p.Ser2035Cys)
dbSNP
5g.112842547G>ACA16036495APCc.7007G>A (p.Ser2336Asn)
c.*6959G>A (n.*6959G>A)
c.6899G>A (p.Ser2300Asn)
c.6953G>A (p.Ser2318Asn)
c.*6275G>A (n.*6275G>A)
c.230+13575G>A
c.6983G>A (p.Ser2328Asn)
c.6878G>A (p.Ser2293Asn)
c.6869G>A (p.Ser2290Asn)
c.6830G>A (p.Ser2277Asn)
c.6776G>A (p.Ser2259Asn)
c.6680G>A (p.Ser2227Asn)
c.6650G>A (p.Ser2217Asn)
c.6575G>A (p.Ser2192Asn)
c.6473G>A (p.Ser2158Asn)
c.6104G>A (p.Ser2035Asn)
ClinVar dbSNP
5g.112842547G>CCA16036496APCc.7007G>C (p.Ser2336Thr)
c.*6959G>C (n.*6959G>C)
c.6899G>C (p.Ser2300Thr)
c.6953G>C (p.Ser2318Thr)
c.*6275G>C (n.*6275G>C)
c.230+13575G>C
c.6983G>C (p.Ser2328Thr)
c.6878G>C (p.Ser2293Thr)
c.6869G>C (p.Ser2290Thr)
c.6830G>C (p.Ser2277Thr)
c.6776G>C (p.Ser2259Thr)
c.6680G>C (p.Ser2227Thr)
c.6650G>C (p.Ser2217Thr)
c.6575G>C (p.Ser2192Thr)
c.6473G>C (p.Ser2158Thr)
c.6104G>C (p.Ser2035Thr)
dbSNP
5g.112842547G=CA1573465514APCc.7007G= (p.Ser2336=)
c.*6959G= (n.*6959G=)
c.6899G= (p.Ser2300=)
c.6953G= (p.Ser2318=)
c.*6275G= (n.*6275G=)
c.230+13575G=
c.6983G= (p.Ser2328=)
c.6878G= (p.Ser2293=)
c.6869G= (p.Ser2290=)
c.6830G= (p.Ser2277=)
c.6776G= (p.Ser2259=)
c.6680G= (p.Ser2227=)
c.6650G= (p.Ser2217=)
c.6575G= (p.Ser2192=)
c.6473G= (p.Ser2158=)
c.6104G= (p.Ser2035=)
5g.112842547G>TCA16036497APCc.7007G>T (p.Ser2336Ile)
c.*6959G>T (n.*6959G>T)
c.6899G>T (p.Ser2300Ile)
c.6953G>T (p.Ser2318Ile)
c.*6275G>T (n.*6275G>T)
c.230+13575G>T
c.6983G>T (p.Ser2328Ile)
c.6878G>T (p.Ser2293Ile)
c.6869G>T (p.Ser2290Ile)
c.6830G>T (p.Ser2277Ile)
c.6776G>T (p.Ser2259Ile)
c.6680G>T (p.Ser2227Ile)
c.6650G>T (p.Ser2217Ile)
c.6575G>T (p.Ser2192Ile)
c.6473G>T (p.Ser2158Ile)
c.6104G>T (p.Ser2035Ile)
5g.112842548T>ACA16036498APCc.7008T>A (p.Ser2336Arg)
c.*6960T>A (n.*6960T>A)
c.6900T>A (p.Ser2300Arg)
c.6954T>A (p.Ser2318Arg)
c.*6276T>A (n.*6276T>A)
c.230+13576T>A
c.6984T>A (p.Ser2328Arg)
c.6879T>A (p.Ser2293Arg)
c.6870T>A (p.Ser2290Arg)
c.6831T>A (p.Ser2277Arg)
c.6777T>A (p.Ser2259Arg)
c.6681T>A (p.Ser2227Arg)
c.6651T>A (p.Ser2217Arg)
c.6576T>A (p.Ser2192Arg)
c.6474T>A (p.Ser2158Arg)
c.6105T>A (p.Ser2035Arg)
dbSNP
5g.112842548T>CCA446210560APCc.7008T>C (p.Ser2336=)
c.*6960T>C (n.*6960T>C)
c.6900T>C (p.Ser2300=)
c.6954T>C (p.Ser2318=)
c.*6276T>C (n.*6276T>C)
c.230+13576T>C
c.6984T>C (p.Ser2328=)
c.6879T>C (p.Ser2293=)
c.6870T>C (p.Ser2290=)
c.6831T>C (p.Ser2277=)
c.6777T>C (p.Ser2259=)
c.6681T>C (p.Ser2227=)
c.6651T>C (p.Ser2217=)
c.6576T>C (p.Ser2192=)
c.6474T>C (p.Ser2158=)
c.6105T>C (p.Ser2035=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842548T>GCA16036499APCc.7008T>G (p.Ser2336Arg)
c.*6960T>G (n.*6960T>G)
c.6900T>G (p.Ser2300Arg)
c.6954T>G (p.Ser2318Arg)
c.*6276T>G (n.*6276T>G)
c.230+13576T>G
c.6984T>G (p.Ser2328Arg)
c.6879T>G (p.Ser2293Arg)
c.6870T>G (p.Ser2290Arg)
c.6831T>G (p.Ser2277Arg)
c.6777T>G (p.Ser2259Arg)
c.6681T>G (p.Ser2227Arg)
c.6651T>G (p.Ser2217Arg)
c.6576T>G (p.Ser2192Arg)
c.6474T>G (p.Ser2158Arg)
c.6105T>G (p.Ser2035Arg)
dbSNP
5g.112842548T=CA1573465521APCc.7008T= (p.Ser2336=)
c.*6960T= (n.*6960T=)
c.6900T= (p.Ser2300=)
c.6954T= (p.Ser2318=)
c.*6276T= (n.*6276T=)
c.230+13576T=
c.6984T= (p.Ser2328=)
c.6879T= (p.Ser2293=)
c.6870T= (p.Ser2290=)
c.6831T= (p.Ser2277=)
c.6777T= (p.Ser2259=)
c.6681T= (p.Ser2227=)
c.6651T= (p.Ser2217=)
c.6576T= (p.Ser2192=)
c.6474T= (p.Ser2158=)
c.6105T= (p.Ser2035=)
5g.112842549A>CCA446210561APCc.7009A>C (p.Arg2337=)
c.*6961A>C (n.*6961A>C)
c.6901A>C (p.Arg2301=)
c.6955A>C (p.Arg2319=)
c.*6277A>C (n.*6277A>C)
c.230+13577A>C
c.6985A>C (p.Arg2329=)
c.6880A>C (p.Arg2294=)
c.6871A>C (p.Arg2291=)
c.6832A>C (p.Arg2278=)
c.6778A>C (p.Arg2260=)
c.6682A>C (p.Arg2228=)
c.6652A>C (p.Arg2218=)
c.6577A>C (p.Arg2193=)
c.6475A>C (p.Arg2159=)
c.6106A>C (p.Arg2036=)
5g.112842549A>GCA16036500APCc.7009A>G (p.Arg2337Gly)
c.*6961A>G (n.*6961A>G)
c.6901A>G (p.Arg2301Gly)
c.6955A>G (p.Arg2319Gly)
c.*6277A>G (n.*6277A>G)
c.230+13577A>G
c.6985A>G (p.Arg2329Gly)
c.6880A>G (p.Arg2294Gly)
c.6871A>G (p.Arg2291Gly)
c.6832A>G (p.Arg2278Gly)
c.6778A>G (p.Arg2260Gly)
c.6682A>G (p.Arg2228Gly)
c.6652A>G (p.Arg2218Gly)
c.6577A>G (p.Arg2193Gly)
c.6475A>G (p.Arg2159Gly)
c.6106A>G (p.Arg2036Gly)
5g.112842549A>TCA16036501APCc.7009A>T (p.Arg2337Ter)
c.*6961A>T (n.*6961A>T)
c.6901A>T (p.Arg2301Ter)
c.6955A>T (p.Arg2319Ter)
c.*6277A>T (n.*6277A>T)
c.230+13577A>T
c.6985A>T (p.Arg2329Ter)
c.6880A>T (p.Arg2294Ter)
c.6871A>T (p.Arg2291Ter)
c.6832A>T (p.Arg2278Ter)
c.6778A>T (p.Arg2260Ter)
c.6682A>T (p.Arg2228Ter)
c.6652A>T (p.Arg2218Ter)
c.6577A>T (p.Arg2193Ter)
c.6475A>T (p.Arg2159Ter)
c.6106A>T (p.Arg2036Ter)
dbSNP
5g.112842550G>ACA16036502APCc.7010G>A (p.Arg2337Lys)
c.*6962G>A (n.*6962G>A)
c.6902G>A (p.Arg2301Lys)
c.6956G>A (p.Arg2319Lys)
c.*6278G>A (n.*6278G>A)
c.230+13578G>A
c.6986G>A (p.Arg2329Lys)
c.6881G>A (p.Arg2294Lys)
c.6872G>A (p.Arg2291Lys)
c.6833G>A (p.Arg2278Lys)
c.6779G>A (p.Arg2260Lys)
c.6683G>A (p.Arg2228Lys)
c.6653G>A (p.Arg2218Lys)
c.6578G>A (p.Arg2193Lys)
c.6476G>A (p.Arg2159Lys)
c.6107G>A (p.Arg2036Lys)
ClinVar dbSNP gnomAD v4
5g.112842550G>CCA16036503APCc.7010G>C (p.Arg2337Thr)
c.*6962G>C (n.*6962G>C)
c.6902G>C (p.Arg2301Thr)
c.6956G>C (p.Arg2319Thr)
c.*6278G>C (n.*6278G>C)
c.230+13578G>C
c.6986G>C (p.Arg2329Thr)
c.6881G>C (p.Arg2294Thr)
c.6872G>C (p.Arg2291Thr)
c.6833G>C (p.Arg2278Thr)
c.6779G>C (p.Arg2260Thr)
c.6683G>C (p.Arg2228Thr)
c.6653G>C (p.Arg2218Thr)
c.6578G>C (p.Arg2193Thr)
c.6476G>C (p.Arg2159Thr)
c.6107G>C (p.Arg2036Thr)
dbSNP
5g.112842550G=CA1573465532APCc.7010G= (p.Arg2337=)
c.*6962G= (n.*6962G=)
c.6902G= (p.Arg2301=)
c.6956G= (p.Arg2319=)
c.*6278G= (n.*6278G=)
c.230+13578G=
c.6986G= (p.Arg2329=)
c.6881G= (p.Arg2294=)
c.6872G= (p.Arg2291=)
c.6833G= (p.Arg2278=)
c.6779G= (p.Arg2260=)
c.6683G= (p.Arg2228=)
c.6653G= (p.Arg2218=)
c.6578G= (p.Arg2193=)
c.6476G= (p.Arg2159=)
c.6107G= (p.Arg2036=)
5g.112842550G>TCA16036504APCc.7010G>T (p.Arg2337Ile)
c.*6962G>T (n.*6962G>T)
c.6902G>T (p.Arg2301Ile)
c.6956G>T (p.Arg2319Ile)
c.*6278G>T (n.*6278G>T)
c.230+13578G>T
c.6986G>T (p.Arg2329Ile)
c.6881G>T (p.Arg2294Ile)
c.6872G>T (p.Arg2291Ile)
c.6833G>T (p.Arg2278Ile)
c.6779G>T (p.Arg2260Ile)
c.6683G>T (p.Arg2228Ile)
c.6653G>T (p.Arg2218Ile)
c.6578G>T (p.Arg2193Ile)
c.6476G>T (p.Arg2159Ile)
c.6107G>T (p.Arg2036Ile)
ClinVar dbSNP
5g.112842551A=CA1573465550APCc.7011A= (p.Arg2337=)
c.*6963A= (n.*6963A=)
c.6903A= (p.Arg2301=)
c.6957A= (p.Arg2319=)
c.*6279A= (n.*6279A=)
c.230+13579A=
c.6987A= (p.Arg2329=)
c.6882A= (p.Arg2294=)
c.6873A= (p.Arg2291=)
c.6834A= (p.Arg2278=)
c.6780A= (p.Arg2260=)
c.6684A= (p.Arg2228=)
c.6654A= (p.Arg2218=)
c.6579A= (p.Arg2193=)
c.6477A= (p.Arg2159=)
c.6108A= (p.Arg2036=)
5g.112842551A>CCA16036505APCc.7011A>C (p.Arg2337Ser)
c.*6963A>C (n.*6963A>C)
c.6903A>C (p.Arg2301Ser)
c.6957A>C (p.Arg2319Ser)
c.*6279A>C (n.*6279A>C)
c.230+13579A>C
c.6987A>C (p.Arg2329Ser)
c.6882A>C (p.Arg2294Ser)
c.6873A>C (p.Arg2291Ser)
c.6834A>C (p.Arg2278Ser)
c.6780A>C (p.Arg2260Ser)
c.6684A>C (p.Arg2228Ser)
c.6654A>C (p.Arg2218Ser)
c.6579A>C (p.Arg2193Ser)
c.6477A>C (p.Arg2159Ser)
c.6108A>C (p.Arg2036Ser)
dbSNP
5g.112842551A>GCA446210564APCc.7011A>G (p.Arg2337=)
c.*6963A>G (n.*6963A>G)
c.6903A>G (p.Arg2301=)
c.6957A>G (p.Arg2319=)
c.*6279A>G (n.*6279A>G)
c.230+13579A>G
c.6987A>G (p.Arg2329=)
c.6882A>G (p.Arg2294=)
c.6873A>G (p.Arg2291=)
c.6834A>G (p.Arg2278=)
c.6780A>G (p.Arg2260=)
c.6684A>G (p.Arg2228=)
c.6654A>G (p.Arg2218=)
c.6579A>G (p.Arg2193=)
c.6477A>G (p.Arg2159=)
c.6108A>G (p.Arg2036=)
ClinVar dbSNP
5g.112842551A>TCA16036506APCc.7011A>T (p.Arg2337Ser)
c.*6963A>T (n.*6963A>T)
c.6903A>T (p.Arg2301Ser)
c.6957A>T (p.Arg2319Ser)
c.*6279A>T (n.*6279A>T)
c.230+13579A>T
c.6987A>T (p.Arg2329Ser)
c.6882A>T (p.Arg2294Ser)
c.6873A>T (p.Arg2291Ser)
c.6834A>T (p.Arg2278Ser)
c.6780A>T (p.Arg2260Ser)
c.6684A>T (p.Arg2228Ser)
c.6654A>T (p.Arg2218Ser)
c.6579A>T (p.Arg2193Ser)
c.6477A>T (p.Arg2159Ser)
c.6108A>T (p.Arg2036Ser)
ClinVar
5g.112842552C>ACA16036507APCc.7012C>A (p.Pro2338Thr)
c.*6964C>A (n.*6964C>A)
c.6904C>A (p.Pro2302Thr)
c.6958C>A (p.Pro2320Thr)
c.*6280C>A (n.*6280C>A)
c.230+13580C>A
c.6988C>A (p.Pro2330Thr)
c.6883C>A (p.Pro2295Thr)
c.6874C>A (p.Pro2292Thr)
c.6835C>A (p.Pro2279Thr)
c.6781C>A (p.Pro2261Thr)
c.6685C>A (p.Pro2229Thr)
c.6655C>A (p.Pro2219Thr)
c.6580C>A (p.Pro2194Thr)
c.6478C>A (p.Pro2160Thr)
c.6109C>A (p.Pro2037Thr)
dbSNP gnomAD v4
5g.112842552C=CA1573465561APCc.7012C= (p.Pro2338=)
c.*6964C= (n.*6964C=)
c.6904C= (p.Pro2302=)
c.6958C= (p.Pro2320=)
c.*6280C= (n.*6280C=)
c.230+13580C=
c.6988C= (p.Pro2330=)
c.6883C= (p.Pro2295=)
c.6874C= (p.Pro2292=)
c.6835C= (p.Pro2279=)
c.6781C= (p.Pro2261=)
c.6685C= (p.Pro2229=)
c.6655C= (p.Pro2219=)
c.6580C= (p.Pro2194=)
c.6478C= (p.Pro2160=)
c.6109C= (p.Pro2037=)
5g.112842552C>GCA16036508APCc.7012C>G (p.Pro2338Ala)
c.*6964C>G (n.*6964C>G)
c.6904C>G (p.Pro2302Ala)
c.6958C>G (p.Pro2320Ala)
c.*6280C>G (n.*6280C>G)
c.230+13580C>G
c.6988C>G (p.Pro2330Ala)
c.6883C>G (p.Pro2295Ala)
c.6874C>G (p.Pro2292Ala)
c.6835C>G (p.Pro2279Ala)
c.6781C>G (p.Pro2261Ala)
c.6685C>G (p.Pro2229Ala)
c.6655C>G (p.Pro2219Ala)
c.6580C>G (p.Pro2194Ala)
c.6478C>G (p.Pro2160Ala)
c.6109C>G (p.Pro2037Ala)
ClinVar dbSNP
5g.112842552C>TCA012700APCc.7012C>T (p.Pro2338Ser)
c.*6964C>T (n.*6964C>T)
c.6904C>T (p.Pro2302Ser)
c.6958C>T (p.Pro2320Ser)
c.*6280C>T (n.*6280C>T)
c.230+13580C>T
c.6988C>T (p.Pro2330Ser)
c.6883C>T (p.Pro2295Ser)
c.6874C>T (p.Pro2292Ser)
c.6835C>T (p.Pro2279Ser)
c.6781C>T (p.Pro2261Ser)
c.6685C>T (p.Pro2229Ser)
c.6655C>T (p.Pro2219Ser)
c.6580C>T (p.Pro2194Ser)
c.6478C>T (p.Pro2160Ser)
c.6109C>T (p.Pro2037Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842553C>ACA16036509APCc.7013C>A (p.Pro2338His)
c.*6965C>A (n.*6965C>A)
c.6905C>A (p.Pro2302His)
c.6959C>A (p.Pro2320His)
c.*6281C>A (n.*6281C>A)
c.230+13581C>A
c.6989C>A (p.Pro2330His)
c.6884C>A (p.Pro2295His)
c.6875C>A (p.Pro2292His)
c.6836C>A (p.Pro2279His)
c.6782C>A (p.Pro2261His)
c.6686C>A (p.Pro2229His)
c.6656C>A (p.Pro2219His)
c.6581C>A (p.Pro2194His)
c.6479C>A (p.Pro2160His)
c.6110C>A (p.Pro2037His)
dbSNP
5g.112842553C=CA1573465565APCc.7013C= (p.Pro2338=)
c.*6965C= (n.*6965C=)
c.6905C= (p.Pro2302=)
c.6959C= (p.Pro2320=)
c.*6281C= (n.*6281C=)
c.230+13581C=
c.6989C= (p.Pro2330=)
c.6884C= (p.Pro2295=)
c.6875C= (p.Pro2292=)
c.6836C= (p.Pro2279=)
c.6782C= (p.Pro2261=)
c.6686C= (p.Pro2229=)
c.6656C= (p.Pro2219=)
c.6581C= (p.Pro2194=)
c.6479C= (p.Pro2160=)
c.6110C= (p.Pro2037=)
5g.112842553C>GCA16036510APCc.7013C>G (p.Pro2338Arg)
c.*6965C>G (n.*6965C>G)
c.6905C>G (p.Pro2302Arg)
c.6959C>G (p.Pro2320Arg)
c.*6281C>G (n.*6281C>G)
c.230+13581C>G
c.6989C>G (p.Pro2330Arg)
c.6884C>G (p.Pro2295Arg)
c.6875C>G (p.Pro2292Arg)
c.6836C>G (p.Pro2279Arg)
c.6782C>G (p.Pro2261Arg)
c.6686C>G (p.Pro2229Arg)
c.6656C>G (p.Pro2219Arg)
c.6581C>G (p.Pro2194Arg)
c.6479C>G (p.Pro2160Arg)
c.6110C>G (p.Pro2037Arg)
dbSNP
5g.112842553C>TCA339178APCc.7013C>T (p.Pro2338Leu)
c.*6965C>T (n.*6965C>T)
c.6905C>T (p.Pro2302Leu)
c.6959C>T (p.Pro2320Leu)
c.*6281C>T (n.*6281C>T)
c.230+13581C>T
c.6989C>T (p.Pro2330Leu)
c.6884C>T (p.Pro2295Leu)
c.6875C>T (p.Pro2292Leu)
c.6836C>T (p.Pro2279Leu)
c.6782C>T (p.Pro2261Leu)
c.6686C>T (p.Pro2229Leu)
c.6656C>T (p.Pro2219Leu)
c.6581C>T (p.Pro2194Leu)
c.6479C>T (p.Pro2160Leu)
c.6110C>T (p.Pro2037Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842554T>ACA446210570APCc.7014T>A (p.Pro2338=)
c.*6966T>A (n.*6966T>A)
c.6906T>A (p.Pro2302=)
c.6960T>A (p.Pro2320=)
c.*6282T>A (n.*6282T>A)
c.230+13582T>A
c.6990T>A (p.Pro2330=)
c.6885T>A (p.Pro2295=)
c.6876T>A (p.Pro2292=)
c.6837T>A (p.Pro2279=)
c.6783T>A (p.Pro2261=)
c.6687T>A (p.Pro2229=)
c.6657T>A (p.Pro2219=)
c.6582T>A (p.Pro2194=)
c.6480T>A (p.Pro2160=)
c.6111T>A (p.Pro2037=)
dbSNP
5g.112842554T>CCA446210572APCc.7014T>C (p.Pro2338=)
c.*6966T>C (n.*6966T>C)
c.6906T>C (p.Pro2302=)
c.6960T>C (p.Pro2320=)
c.*6282T>C (n.*6282T>C)
c.230+13582T>C
c.6990T>C (p.Pro2330=)
c.6885T>C (p.Pro2295=)
c.6876T>C (p.Pro2292=)
c.6837T>C (p.Pro2279=)
c.6783T>C (p.Pro2261=)
c.6687T>C (p.Pro2229=)
c.6657T>C (p.Pro2219=)
c.6582T>C (p.Pro2194=)
c.6480T>C (p.Pro2160=)
c.6111T>C (p.Pro2037=)
dbSNP
5g.112842554T>GCA446210574APCc.7014T>G (p.Pro2338=)
c.*6966T>G (n.*6966T>G)
c.6906T>G (p.Pro2302=)
c.6960T>G (p.Pro2320=)
c.*6282T>G (n.*6282T>G)
c.230+13582T>G
c.6990T>G (p.Pro2330=)
c.6885T>G (p.Pro2295=)
c.6876T>G (p.Pro2292=)
c.6837T>G (p.Pro2279=)
c.6783T>G (p.Pro2261=)
c.6687T>G (p.Pro2229=)
c.6657T>G (p.Pro2219=)
c.6582T>G (p.Pro2194=)
c.6480T>G (p.Pro2160=)
c.6111T>G (p.Pro2037=)
5g.112842555A>CCA16036511APCc.7015A>C (p.Ile2339Leu)
c.*6967A>C (n.*6967A>C)
c.6907A>C (p.Ile2303Leu)
c.6961A>C (p.Ile2321Leu)
c.*6283A>C (n.*6283A>C)
c.230+13583A>C
c.6991A>C (p.Ile2331Leu)
c.6886A>C (p.Ile2296Leu)
c.6877A>C (p.Ile2293Leu)
c.6838A>C (p.Ile2280Leu)
c.6784A>C (p.Ile2262Leu)
c.6688A>C (p.Ile2230Leu)
c.6658A>C (p.Ile2220Leu)
c.6583A>C (p.Ile2195Leu)
c.6481A>C (p.Ile2161Leu)
c.6112A>C (p.Ile2038Leu)
dbSNP
5g.112842555A>GCA16036512APCc.7015A>G (p.Ile2339Val)
c.*6967A>G (n.*6967A>G)
c.6907A>G (p.Ile2303Val)
c.6961A>G (p.Ile2321Val)
c.*6283A>G (n.*6283A>G)
c.230+13583A>G
c.6991A>G (p.Ile2331Val)
c.6886A>G (p.Ile2296Val)
c.6877A>G (p.Ile2293Val)
c.6838A>G (p.Ile2280Val)
c.6784A>G (p.Ile2262Val)
c.6688A>G (p.Ile2230Val)
c.6658A>G (p.Ile2220Val)
c.6583A>G (p.Ile2195Val)
c.6481A>G (p.Ile2161Val)
c.6112A>G (p.Ile2038Val)
ClinVar dbSNP
5g.112842555A>TCA16036513APCc.7015A>T (p.Ile2339Leu)
c.*6967A>T (n.*6967A>T)
c.6907A>T (p.Ile2303Leu)
c.6961A>T (p.Ile2321Leu)
c.*6283A>T (n.*6283A>T)
c.230+13583A>T
c.6991A>T (p.Ile2331Leu)
c.6886A>T (p.Ile2296Leu)
c.6877A>T (p.Ile2293Leu)
c.6838A>T (p.Ile2280Leu)
c.6784A>T (p.Ile2262Leu)
c.6688A>T (p.Ile2230Leu)
c.6658A>T (p.Ile2220Leu)
c.6583A>T (p.Ile2195Leu)
c.6481A>T (p.Ile2161Leu)
c.6112A>T (p.Ile2038Leu)
dbSNP COSMIC
5g.112842556T>ACA16036514APCc.7016T>A (p.Ile2339Lys)
c.*6968T>A (n.*6968T>A)
c.6908T>A (p.Ile2303Lys)
c.6962T>A (p.Ile2321Lys)
c.*6284T>A (n.*6284T>A)
c.230+13584T>A
c.6992T>A (p.Ile2331Lys)
c.6887T>A (p.Ile2296Lys)
c.6878T>A (p.Ile2293Lys)
c.6839T>A (p.Ile2280Lys)
c.6785T>A (p.Ile2262Lys)
c.6689T>A (p.Ile2230Lys)
c.6659T>A (p.Ile2220Lys)
c.6584T>A (p.Ile2195Lys)
c.6482T>A (p.Ile2161Lys)
c.6113T>A (p.Ile2038Lys)
dbSNP
5g.112842556T>CCA16036515APCc.7016T>C (p.Ile2339Thr)
c.*6968T>C (n.*6968T>C)
c.6908T>C (p.Ile2303Thr)
c.6962T>C (p.Ile2321Thr)
c.*6284T>C (n.*6284T>C)
c.230+13584T>C
c.6992T>C (p.Ile2331Thr)
c.6887T>C (p.Ile2296Thr)
c.6878T>C (p.Ile2293Thr)
c.6839T>C (p.Ile2280Thr)
c.6785T>C (p.Ile2262Thr)
c.6689T>C (p.Ile2230Thr)
c.6659T>C (p.Ile2220Thr)
c.6584T>C (p.Ile2195Thr)
c.6482T>C (p.Ile2161Thr)
c.6113T>C (p.Ile2038Thr)
ClinVar
5g.112842556T>GCA16036516APCc.7016T>G (p.Ile2339Arg)
c.*6968T>G (n.*6968T>G)
c.6908T>G (p.Ile2303Arg)
c.6962T>G (p.Ile2321Arg)
c.*6284T>G (n.*6284T>G)
c.230+13584T>G
c.6992T>G (p.Ile2331Arg)
c.6887T>G (p.Ile2296Arg)
c.6878T>G (p.Ile2293Arg)
c.6839T>G (p.Ile2280Arg)
c.6785T>G (p.Ile2262Arg)
c.6689T>G (p.Ile2230Arg)
c.6659T>G (p.Ile2220Arg)
c.6584T>G (p.Ile2195Arg)
c.6482T>G (p.Ile2161Arg)
c.6113T>G (p.Ile2038Arg)
dbSNP
5g.112842557A=CA1573465579APCc.7017A= (p.Ile2339=)
c.*6969A= (n.*6969A=)
c.6909A= (p.Ile2303=)
c.6963A= (p.Ile2321=)
c.*6285A= (n.*6285A=)
c.230+13585A=
c.6993A= (p.Ile2331=)
c.6888A= (p.Ile2296=)
c.6879A= (p.Ile2293=)
c.6840A= (p.Ile2280=)
c.6786A= (p.Ile2262=)
c.6690A= (p.Ile2230=)
c.6660A= (p.Ile2220=)
c.6585A= (p.Ile2195=)
c.6483A= (p.Ile2161=)
c.6114A= (p.Ile2038=)
5g.112842557A>CCA446210576APCc.7017A>C (p.Ile2339=)
c.*6969A>C (n.*6969A>C)
c.6909A>C (p.Ile2303=)
c.6963A>C (p.Ile2321=)
c.*6285A>C (n.*6285A>C)
c.230+13585A>C
c.6993A>C (p.Ile2331=)
c.6888A>C (p.Ile2296=)
c.6879A>C (p.Ile2293=)
c.6840A>C (p.Ile2280=)
c.6786A>C (p.Ile2262=)
c.6690A>C (p.Ile2230=)
c.6660A>C (p.Ile2220=)
c.6585A>C (p.Ile2195=)
c.6483A>C (p.Ile2161=)
c.6114A>C (p.Ile2038=)
dbSNP
5g.112842557A>GCA16036517APCc.7017A>G (p.Ile2339Met)
c.*6969A>G (n.*6969A>G)
c.6909A>G (p.Ile2303Met)
c.6963A>G (p.Ile2321Met)
c.*6285A>G (n.*6285A>G)
c.230+13585A>G
c.6993A>G (p.Ile2331Met)
c.6888A>G (p.Ile2296Met)
c.6879A>G (p.Ile2293Met)
c.6840A>G (p.Ile2280Met)
c.6786A>G (p.Ile2262Met)
c.6690A>G (p.Ile2230Met)
c.6660A>G (p.Ile2220Met)
c.6585A>G (p.Ile2195Met)
c.6483A>G (p.Ile2161Met)
c.6114A>G (p.Ile2038Met)
ClinVar dbSNP gnomAD v4
5g.112842557A>TCA446210578APCc.7017A>T (p.Ile2339=)
c.*6969A>T (n.*6969A>T)
c.6909A>T (p.Ile2303=)
c.6963A>T (p.Ile2321=)
c.*6285A>T (n.*6285A>T)
c.230+13585A>T
c.6993A>T (p.Ile2331=)
c.6888A>T (p.Ile2296=)
c.6879A>T (p.Ile2293=)
c.6840A>T (p.Ile2280=)
c.6786A>T (p.Ile2262=)
c.6690A>T (p.Ile2230=)
c.6660A>T (p.Ile2220=)
c.6585A>T (p.Ile2195=)
c.6483A>T (p.Ile2161=)
c.6114A>T (p.Ile2038=)
dbSNP
5g.112842558C>ACA16036518APCc.7018C>A (p.Gln2340Lys)
c.*6970C>A (n.*6970C>A)
c.6910C>A (p.Gln2304Lys)
c.6964C>A (p.Gln2322Lys)
c.*6286C>A (n.*6286C>A)
c.230+13586C>A
c.6994C>A (p.Gln2332Lys)
c.6889C>A (p.Gln2297Lys)
c.6880C>A (p.Gln2294Lys)
c.6841C>A (p.Gln2281Lys)
c.6787C>A (p.Gln2263Lys)
c.6691C>A (p.Gln2231Lys)
c.6661C>A (p.Gln2221Lys)
c.6586C>A (p.Gln2196Lys)
c.6484C>A (p.Gln2162Lys)
c.6115C>A (p.Gln2039Lys)
dbSNP
5g.112842558C>GCA16036519APCc.7018C>G (p.Gln2340Glu)
c.*6970C>G (n.*6970C>G)
c.6910C>G (p.Gln2304Glu)
c.6964C>G (p.Gln2322Glu)
c.*6286C>G (n.*6286C>G)
c.230+13586C>G
c.6994C>G (p.Gln2332Glu)
c.6889C>G (p.Gln2297Glu)
c.6880C>G (p.Gln2294Glu)
c.6841C>G (p.Gln2281Glu)
c.6787C>G (p.Gln2263Glu)
c.6691C>G (p.Gln2231Glu)
c.6661C>G (p.Gln2221Glu)
c.6586C>G (p.Gln2196Glu)
c.6484C>G (p.Gln2162Glu)
c.6115C>G (p.Gln2039Glu)
ClinVar dbSNP gnomAD v4
5g.112842558C>TCA16036520APCc.7018C>T (p.Gln2340Ter)
c.*6970C>T (n.*6970C>T)
c.6910C>T (p.Gln2304Ter)
c.6964C>T (p.Gln2322Ter)
c.*6286C>T (n.*6286C>T)
c.230+13586C>T
c.6994C>T (p.Gln2332Ter)
c.6889C>T (p.Gln2297Ter)
c.6880C>T (p.Gln2294Ter)
c.6841C>T (p.Gln2281Ter)
c.6787C>T (p.Gln2263Ter)
c.6691C>T (p.Gln2231Ter)
c.6661C>T (p.Gln2221Ter)
c.6586C>T (p.Gln2196Ter)
c.6484C>T (p.Gln2162Ter)
c.6115C>T (p.Gln2039Ter)
dbSNP
5g.112842559A=CA1573465589APCc.7019A= (p.Gln2340=)
c.*6971A= (n.*6971A=)
c.6911A= (p.Gln2304=)
c.6965A= (p.Gln2322=)
c.*6287A= (n.*6287A=)
c.230+13587A=
c.6995A= (p.Gln2332=)
c.6890A= (p.Gln2297=)
c.6881A= (p.Gln2294=)
c.6842A= (p.Gln2281=)
c.6788A= (p.Gln2263=)
c.6692A= (p.Gln2231=)
c.6662A= (p.Gln2221=)
c.6587A= (p.Gln2196=)
c.6485A= (p.Gln2162=)
c.6116A= (p.Gln2039=)
5g.112842559A>CCA16036521APCc.7019A>C (p.Gln2340Pro)
c.*6971A>C (n.*6971A>C)
c.6911A>C (p.Gln2304Pro)
c.6965A>C (p.Gln2322Pro)
c.*6287A>C (n.*6287A>C)
c.230+13587A>C
c.6995A>C (p.Gln2332Pro)
c.6890A>C (p.Gln2297Pro)
c.6881A>C (p.Gln2294Pro)
c.6842A>C (p.Gln2281Pro)
c.6788A>C (p.Gln2263Pro)
c.6692A>C (p.Gln2231Pro)
c.6662A>C (p.Gln2221Pro)
c.6587A>C (p.Gln2196Pro)
c.6485A>C (p.Gln2162Pro)
c.6116A>C (p.Gln2039Pro)
ClinVar dbSNP
5g.112842559A>GCA16036522APCc.7019A>G (p.Gln2340Arg)
c.*6971A>G (n.*6971A>G)
c.6911A>G (p.Gln2304Arg)
c.6965A>G (p.Gln2322Arg)
c.*6287A>G (n.*6287A>G)
c.230+13587A>G
c.6995A>G (p.Gln2332Arg)
c.6890A>G (p.Gln2297Arg)
c.6881A>G (p.Gln2294Arg)
c.6842A>G (p.Gln2281Arg)
c.6788A>G (p.Gln2263Arg)
c.6692A>G (p.Gln2231Arg)
c.6662A>G (p.Gln2221Arg)
c.6587A>G (p.Gln2196Arg)
c.6485A>G (p.Gln2162Arg)
c.6116A>G (p.Gln2039Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112842559A>TCA16036523APCc.7019A>T (p.Gln2340Leu)
c.*6971A>T (n.*6971A>T)
c.6911A>T (p.Gln2304Leu)
c.6965A>T (p.Gln2322Leu)
c.*6287A>T (n.*6287A>T)
c.230+13587A>T
c.6995A>T (p.Gln2332Leu)
c.6890A>T (p.Gln2297Leu)
c.6881A>T (p.Gln2294Leu)
c.6842A>T (p.Gln2281Leu)
c.6788A>T (p.Gln2263Leu)
c.6692A>T (p.Gln2231Leu)
c.6662A>T (p.Gln2221Leu)
c.6587A>T (p.Gln2196Leu)
c.6485A>T (p.Gln2162Leu)
c.6116A>T (p.Gln2039Leu)
ClinVar dbSNP
5g.112842560G>ACA446210586APCc.7020G>A (p.Gln2340=)
c.*6972G>A (n.*6972G>A)
c.6912G>A (p.Gln2304=)
c.6966G>A (p.Gln2322=)
c.*6288G>A (n.*6288G>A)
c.230+13588G>A
c.6996G>A (p.Gln2332=)
c.6891G>A (p.Gln2297=)
c.6882G>A (p.Gln2294=)
c.6843G>A (p.Gln2281=)
c.6789G>A (p.Gln2263=)
c.6693G>A (p.Gln2231=)
c.6663G>A (p.Gln2221=)
c.6588G>A (p.Gln2196=)
c.6486G>A (p.Gln2162=)
c.6117G>A (p.Gln2039=)
ClinVar dbSNP
5g.112842560G>CCA012719APCc.7020G>C (p.Gln2340His)
c.*6972G>C (n.*6972G>C)
c.6912G>C (p.Gln2304His)
c.6966G>C (p.Gln2322His)
c.*6288G>C (n.*6288G>C)
c.230+13588G>C
c.6996G>C (p.Gln2332His)
c.6891G>C (p.Gln2297His)
c.6882G>C (p.Gln2294His)
c.6843G>C (p.Gln2281His)
c.6789G>C (p.Gln2263His)
c.6693G>C (p.Gln2231His)
c.6663G>C (p.Gln2221His)
c.6588G>C (p.Gln2196His)
c.6486G>C (p.Gln2162His)
c.6117G>C (p.Gln2039His)
ClinVar dbSNP
5g.112842560G=CA1573465606APCc.7020G= (p.Gln2340=)
c.*6972G= (n.*6972G=)
c.6912G= (p.Gln2304=)
c.6966G= (p.Gln2322=)
c.*6288G= (n.*6288G=)
c.230+13588G=
c.6996G= (p.Gln2332=)
c.6891G= (p.Gln2297=)
c.6882G= (p.Gln2294=)
c.6843G= (p.Gln2281=)
c.6789G= (p.Gln2263=)
c.6693G= (p.Gln2231=)
c.6663G= (p.Gln2221=)
c.6588G= (p.Gln2196=)
c.6486G= (p.Gln2162=)
c.6117G= (p.Gln2039=)
5g.112842560G>TCA16036524APCc.7020G>T (p.Gln2340His)
c.*6972G>T (n.*6972G>T)
c.6912G>T (p.Gln2304His)
c.6966G>T (p.Gln2322His)
c.*6288G>T (n.*6288G>T)
c.230+13588G>T
c.6996G>T (p.Gln2332His)
c.6891G>T (p.Gln2297His)
c.6882G>T (p.Gln2294His)
c.6843G>T (p.Gln2281His)
c.6789G>T (p.Gln2263His)
c.6693G>T (p.Gln2231His)
c.6663G>T (p.Gln2221His)
c.6588G>T (p.Gln2196His)
c.6486G>T (p.Gln2162His)
c.6117G>T (p.Gln2039His)
dbSNP
5g.112842561T>ACA046543APCc.7021T>A (p.Ser2341Thr)
c.*6973T>A (n.*6973T>A)
c.6913T>A (p.Ser2305Thr)
c.6967T>A (p.Ser2323Thr)
c.*6289T>A (n.*6289T>A)
c.230+13589T>A
c.6997T>A (p.Ser2333Thr)
c.6892T>A (p.Ser2298Thr)
c.6883T>A (p.Ser2295Thr)
c.6844T>A (p.Ser2282Thr)
c.6790T>A (p.Ser2264Thr)
c.6694T>A (p.Ser2232Thr)
c.6664T>A (p.Ser2222Thr)
c.6589T>A (p.Ser2197Thr)
c.6487T>A (p.Ser2163Thr)
c.6118T>A (p.Ser2040Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842561T>CCA16036525APCc.7021T>C (p.Ser2341Pro)
c.*6973T>C (n.*6973T>C)
c.6913T>C (p.Ser2305Pro)
c.6967T>C (p.Ser2323Pro)
c.*6289T>C (n.*6289T>C)
c.230+13589T>C
c.6997T>C (p.Ser2333Pro)
c.6892T>C (p.Ser2298Pro)
c.6883T>C (p.Ser2295Pro)
c.6844T>C (p.Ser2282Pro)
c.6790T>C (p.Ser2264Pro)
c.6694T>C (p.Ser2232Pro)
c.6664T>C (p.Ser2222Pro)
c.6589T>C (p.Ser2197Pro)
c.6487T>C (p.Ser2163Pro)
c.6118T>C (p.Ser2040Pro)
dbSNP
5g.112842561T>GCA16036526APCc.7021T>G (p.Ser2341Ala)
c.*6973T>G (n.*6973T>G)
c.6913T>G (p.Ser2305Ala)
c.6967T>G (p.Ser2323Ala)
c.*6289T>G (n.*6289T>G)
c.230+13589T>G
c.6997T>G (p.Ser2333Ala)
c.6892T>G (p.Ser2298Ala)
c.6883T>G (p.Ser2295Ala)
c.6844T>G (p.Ser2282Ala)
c.6790T>G (p.Ser2264Ala)
c.6694T>G (p.Ser2232Ala)
c.6664T>G (p.Ser2222Ala)
c.6589T>G (p.Ser2197Ala)
c.6487T>G (p.Ser2163Ala)
c.6118T>G (p.Ser2040Ala)
dbSNP
5g.112842561T=CA1573465609APCc.7021T= (p.Ser2341=)
c.*6973T= (n.*6973T=)
c.6913T= (p.Ser2305=)
c.6967T= (p.Ser2323=)
c.*6289T= (n.*6289T=)
c.230+13589T=
c.6997T= (p.Ser2333=)
c.6892T= (p.Ser2298=)
c.6883T= (p.Ser2295=)
c.6844T= (p.Ser2282=)
c.6790T= (p.Ser2264=)
c.6694T= (p.Ser2232=)
c.6664T= (p.Ser2222=)
c.6589T= (p.Ser2197=)
c.6487T= (p.Ser2163=)
c.6118T= (p.Ser2040=)
5g.112842562C>ACA16036527APCc.7022C>A (p.Ser2341Tyr)
c.*6974C>A (n.*6974C>A)
c.6914C>A (p.Ser2305Tyr)
c.6968C>A (p.Ser2323Tyr)
c.*6290C>A (n.*6290C>A)
c.230+13590C>A
c.6998C>A (p.Ser2333Tyr)
c.6893C>A (p.Ser2298Tyr)
c.6884C>A (p.Ser2295Tyr)
c.6845C>A (p.Ser2282Tyr)
c.6791C>A (p.Ser2264Tyr)
c.6695C>A (p.Ser2232Tyr)
c.6665C>A (p.Ser2222Tyr)
c.6590C>A (p.Ser2197Tyr)
c.6488C>A (p.Ser2163Tyr)
c.6119C>A (p.Ser2040Tyr)
ClinVar dbSNP
5g.112842562C=CA1573465616APCc.7022C= (p.Ser2341=)
c.*6974C= (n.*6974C=)
c.6914C= (p.Ser2305=)
c.6968C= (p.Ser2323=)
c.*6290C= (n.*6290C=)
c.230+13590C=
c.6998C= (p.Ser2333=)
c.6893C= (p.Ser2298=)
c.6884C= (p.Ser2295=)
c.6845C= (p.Ser2282=)
c.6791C= (p.Ser2264=)
c.6695C= (p.Ser2232=)
c.6665C= (p.Ser2222=)
c.6590C= (p.Ser2197=)
c.6488C= (p.Ser2163=)
c.6119C= (p.Ser2040=)
5g.112842562C>GCA16036528APCc.7022C>G (p.Ser2341Cys)
c.*6974C>G (n.*6974C>G)
c.6914C>G (p.Ser2305Cys)
c.6968C>G (p.Ser2323Cys)
c.*6290C>G (n.*6290C>G)
c.230+13590C>G
c.6998C>G (p.Ser2333Cys)
c.6893C>G (p.Ser2298Cys)
c.6884C>G (p.Ser2295Cys)
c.6845C>G (p.Ser2282Cys)
c.6791C>G (p.Ser2264Cys)
c.6695C>G (p.Ser2232Cys)
c.6665C>G (p.Ser2222Cys)
c.6590C>G (p.Ser2197Cys)
c.6488C>G (p.Ser2163Cys)
c.6119C>G (p.Ser2040Cys)
dbSNP gnomAD v4
5g.112842562C>TCA046559APCc.7022C>T (p.Ser2341Phe)
c.*6974C>T (n.*6974C>T)
c.6914C>T (p.Ser2305Phe)
c.6968C>T (p.Ser2323Phe)
c.*6290C>T (n.*6290C>T)
c.230+13590C>T
c.6998C>T (p.Ser2333Phe)
c.6893C>T (p.Ser2298Phe)
c.6884C>T (p.Ser2295Phe)
c.6845C>T (p.Ser2282Phe)
c.6791C>T (p.Ser2264Phe)
c.6695C>T (p.Ser2232Phe)
c.6665C>T (p.Ser2222Phe)
c.6590C>T (p.Ser2197Phe)
c.6488C>T (p.Ser2163Phe)
c.6119C>T (p.Ser2040Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842563T>ACA446210593APCc.7023T>A (p.Ser2341=)
c.*6975T>A (n.*6975T>A)
c.6915T>A (p.Ser2305=)
c.6969T>A (p.Ser2323=)
c.*6291T>A (n.*6291T>A)
c.230+13591T>A
c.6999T>A (p.Ser2333=)
c.6894T>A (p.Ser2298=)
c.6885T>A (p.Ser2295=)
c.6846T>A (p.Ser2282=)
c.6792T>A (p.Ser2264=)
c.6696T>A (p.Ser2232=)
c.6666T>A (p.Ser2222=)
c.6591T>A (p.Ser2197=)
c.6489T>A (p.Ser2163=)
c.6120T>A (p.Ser2040=)
ClinVar
5g.112842563T>CCA446210595APCc.7023T>C (p.Ser2341=)
c.*6975T>C (n.*6975T>C)
c.6915T>C (p.Ser2305=)
c.6969T>C (p.Ser2323=)
c.*6291T>C (n.*6291T>C)
c.230+13591T>C
c.6999T>C (p.Ser2333=)
c.6894T>C (p.Ser2298=)
c.6885T>C (p.Ser2295=)
c.6846T>C (p.Ser2282=)
c.6792T>C (p.Ser2264=)
c.6696T>C (p.Ser2232=)
c.6666T>C (p.Ser2222=)
c.6591T>C (p.Ser2197=)
c.6489T>C (p.Ser2163=)
c.6120T>C (p.Ser2040=)
5g.112842563T>GCA446210597APCc.7023T>G (p.Ser2341=)
c.*6975T>G (n.*6975T>G)
c.6915T>G (p.Ser2305=)
c.6969T>G (p.Ser2323=)
c.*6291T>G (n.*6291T>G)
c.230+13591T>G
c.6999T>G (p.Ser2333=)
c.6894T>G (p.Ser2298=)
c.6885T>G (p.Ser2295=)
c.6846T>G (p.Ser2282=)
c.6792T>G (p.Ser2264=)
c.6696T>G (p.Ser2232=)
c.6666T>G (p.Ser2222=)
c.6591T>G (p.Ser2197=)
c.6489T>G (p.Ser2163=)
c.6120T>G (p.Ser2040=)
5g.112842564C>ACA16036529APCc.7024C>A (p.Pro2342Thr)
c.*6976C>A (n.*6976C>A)
c.6916C>A (p.Pro2306Thr)
c.6970C>A (p.Pro2324Thr)
c.*6292C>A (n.*6292C>A)
c.230+13592C>A
c.7000C>A (p.Pro2334Thr)
c.6895C>A (p.Pro2299Thr)
c.6886C>A (p.Pro2296Thr)
c.6847C>A (p.Pro2283Thr)
c.6793C>A (p.Pro2265Thr)
c.6697C>A (p.Pro2233Thr)
c.6667C>A (p.Pro2223Thr)
c.6592C>A (p.Pro2198Thr)
c.6490C>A (p.Pro2164Thr)
c.6121C>A (p.Pro2041Thr)
ClinVar dbSNP
5g.112842564C=CA1573465624APCc.7024C= (p.Pro2342=)
c.*6976C= (n.*6976C=)
c.6916C= (p.Pro2306=)
c.6970C= (p.Pro2324=)
c.*6292C= (n.*6292C=)
c.230+13592C=
c.7000C= (p.Pro2334=)
c.6895C= (p.Pro2299=)
c.6886C= (p.Pro2296=)
c.6847C= (p.Pro2283=)
c.6793C= (p.Pro2265=)
c.6697C= (p.Pro2233=)
c.6667C= (p.Pro2223=)
c.6592C= (p.Pro2198=)
c.6490C= (p.Pro2164=)
c.6121C= (p.Pro2041=)
5g.112842564C>GCA16036530APCc.7024C>G (p.Pro2342Ala)
c.*6976C>G (n.*6976C>G)
c.6916C>G (p.Pro2306Ala)
c.6970C>G (p.Pro2324Ala)
c.*6292C>G (n.*6292C>G)
c.230+13592C>G
c.7000C>G (p.Pro2334Ala)
c.6895C>G (p.Pro2299Ala)
c.6886C>G (p.Pro2296Ala)
c.6847C>G (p.Pro2283Ala)
c.6793C>G (p.Pro2265Ala)
c.6697C>G (p.Pro2233Ala)
c.6667C>G (p.Pro2223Ala)
c.6592C>G (p.Pro2198Ala)
c.6490C>G (p.Pro2164Ala)
c.6121C>G (p.Pro2041Ala)
ClinVar dbSNP
5g.112842564C>TCA046567APCc.7024C>T (p.Pro2342Ser)
c.*6976C>T (n.*6976C>T)
c.6916C>T (p.Pro2306Ser)
c.6970C>T (p.Pro2324Ser)
c.*6292C>T (n.*6292C>T)
c.230+13592C>T
c.7000C>T (p.Pro2334Ser)
c.6895C>T (p.Pro2299Ser)
c.6886C>T (p.Pro2296Ser)
c.6847C>T (p.Pro2283Ser)
c.6793C>T (p.Pro2265Ser)
c.6697C>T (p.Pro2233Ser)
c.6667C>T (p.Pro2223Ser)
c.6592C>T (p.Pro2198Ser)
c.6490C>T (p.Pro2164Ser)
c.6121C>T (p.Pro2041Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842564_112842576delinsCCTGGCCGAAACTCA1573465632APCc.7024_7036delinsCCTGGCCGAAACT (p.Pro2342=)
c.*6976_*6988delinsCCTGGCCGAAACT (n.*6976_*6988delinsCCTGGCCGAAACT)
c.6916_6928delinsCCTGGCCGAAACT (p.Pro2306=)
c.6970_6982delinsCCTGGCCGAAACT (p.Pro2324=)
c.*6292_*6304delinsCCTGGCCGAAACT (n.*6292_*6304delinsCCTGGCCGAAACT)
c.230+13592_230+13604delinsCCTGGCCGAAACT
c.7000_7012delinsCCTGGCCGAAACT (p.Pro2334=)
c.6895_6907delinsCCTGGCCGAAACT (p.Pro2299=)
c.6886_6898delinsCCTGGCCGAAACT (p.Pro2296=)
c.6847_6859delinsCCTGGCCGAAACT (p.Pro2283=)
c.6793_6805delinsCCTGGCCGAAACT (p.Pro2265=)
c.6697_6709delinsCCTGGCCGAAACT (p.Pro2233=)
c.6667_6679delinsCCTGGCCGAAACT (p.Pro2223=)
c.6592_6604delinsCCTGGCCGAAACT (p.Pro2198=)
c.6490_6502delinsCCTGGCCGAAACT (p.Pro2164=)
c.6121_6133delinsCCTGGCCGAAACT (p.Pro2041=)
5g.112842565C>ACA16036531APCc.7025C>A (p.Pro2342His)
c.*6977C>A (n.*6977C>A)
c.6917C>A (p.Pro2306His)
c.6971C>A (p.Pro2324His)
c.*6293C>A (n.*6293C>A)
c.230+13593C>A
c.7001C>A (p.Pro2334His)
c.6896C>A (p.Pro2299His)
c.6887C>A (p.Pro2296His)
c.6848C>A (p.Pro2283His)
c.6794C>A (p.Pro2265His)
c.6698C>A (p.Pro2233His)
c.6668C>A (p.Pro2223His)
c.6593C>A (p.Pro2198His)
c.6491C>A (p.Pro2164His)
c.6122C>A (p.Pro2041His)
dbSNP
5g.112842565C=CA1573465644APCc.7025C= (p.Pro2342=)
c.*6977C= (n.*6977C=)
c.6917C= (p.Pro2306=)
c.6971C= (p.Pro2324=)
c.*6293C= (n.*6293C=)
c.230+13593C=
c.7001C= (p.Pro2334=)
c.6896C= (p.Pro2299=)
c.6887C= (p.Pro2296=)
c.6848C= (p.Pro2283=)
c.6794C= (p.Pro2265=)
c.6698C= (p.Pro2233=)
c.6668C= (p.Pro2223=)
c.6593C= (p.Pro2198=)
c.6491C= (p.Pro2164=)
c.6122C= (p.Pro2041=)
5g.112842565C>GCA16036532APCc.7025C>G (p.Pro2342Arg)
c.*6977C>G (n.*6977C>G)
c.6917C>G (p.Pro2306Arg)
c.6971C>G (p.Pro2324Arg)
c.*6293C>G (n.*6293C>G)
c.230+13593C>G
c.7001C>G (p.Pro2334Arg)
c.6896C>G (p.Pro2299Arg)
c.6887C>G (p.Pro2296Arg)
c.6848C>G (p.Pro2283Arg)
c.6794C>G (p.Pro2265Arg)
c.6698C>G (p.Pro2233Arg)
c.6668C>G (p.Pro2223Arg)
c.6593C>G (p.Pro2198Arg)
c.6491C>G (p.Pro2164Arg)
c.6122C>G (p.Pro2041Arg)
ClinVar dbSNP
5g.112842565C>TCA16036533APCc.7025C>T (p.Pro2342Leu)
c.*6977C>T (n.*6977C>T)
c.6917C>T (p.Pro2306Leu)
c.6971C>T (p.Pro2324Leu)
c.*6293C>T (n.*6293C>T)
c.230+13593C>T
c.7001C>T (p.Pro2334Leu)
c.6896C>T (p.Pro2299Leu)
c.6887C>T (p.Pro2296Leu)
c.6848C>T (p.Pro2283Leu)
c.6794C>T (p.Pro2265Leu)
c.6698C>T (p.Pro2233Leu)
c.6668C>T (p.Pro2223Leu)
c.6593C>T (p.Pro2198Leu)
c.6491C>T (p.Pro2164Leu)
c.6122C>T (p.Pro2041Leu)
dbSNP
5g.112842566_112842577delCA915943519APCc.7026_7037del (p.Gly2343_Ser2346del)
c.*6978_*6989del (n.*6978_*6989del)
c.6918_6929del (p.Gly2307_Ser2310del)
c.6972_6983del (p.Gly2325_Ser2328del)
c.*6294_*6305del (n.*6294_*6305del)
c.230+13594_230+13605del
c.7002_7013del (p.Gly2335_Ser2338del)
c.6897_6908del (p.Gly2300_Ser2303del)
c.6888_6899del (p.Gly2297_Ser2300del)
c.6849_6860del (p.Gly2284_Ser2287del)
c.6795_6806del (p.Gly2266_Ser2269del)
c.6699_6710del (p.Gly2234_Ser2237del)
c.6669_6680del (p.Gly2224_Ser2227del)
c.6594_6605del (p.Gly2199_Ser2202del)
c.6492_6503del (p.Gly2165_Ser2168del)
c.6123_6134del (p.Gly2042_Ser2045del)
ClinVar dbSNP
5g.112842566T>ACA446210605APCc.7026T>A (p.Pro2342=)
c.*6978T>A (n.*6978T>A)
c.6918T>A (p.Pro2306=)
c.6972T>A (p.Pro2324=)
c.*6294T>A (n.*6294T>A)
c.230+13594T>A
c.7002T>A (p.Pro2334=)
c.6897T>A (p.Pro2299=)
c.6888T>A (p.Pro2296=)
c.6849T>A (p.Pro2283=)
c.6795T>A (p.Pro2265=)
c.6699T>A (p.Pro2233=)
c.6669T>A (p.Pro2223=)
c.6594T>A (p.Pro2198=)
c.6492T>A (p.Pro2164=)
c.6123T>A (p.Pro2041=)
5g.112842566T>CCA446210612APCc.7026T>C (p.Pro2342=)
c.*6978T>C (n.*6978T>C)
c.6918T>C (p.Pro2306=)
c.6972T>C (p.Pro2324=)
c.*6294T>C (n.*6294T>C)
c.230+13594T>C
c.7002T>C (p.Pro2334=)
c.6897T>C (p.Pro2299=)
c.6888T>C (p.Pro2296=)
c.6849T>C (p.Pro2283=)
c.6795T>C (p.Pro2265=)
c.6699T>C (p.Pro2233=)
c.6669T>C (p.Pro2223=)
c.6594T>C (p.Pro2198=)
c.6492T>C (p.Pro2164=)
c.6123T>C (p.Pro2041=)
COSMIC
5g.112842566T>GCA446210613APCc.7026T>G (p.Pro2342=)
c.*6978T>G (n.*6978T>G)
c.6918T>G (p.Pro2306=)
c.6972T>G (p.Pro2324=)
c.*6294T>G (n.*6294T>G)
c.230+13594T>G
c.7002T>G (p.Pro2334=)
c.6897T>G (p.Pro2299=)
c.6888T>G (p.Pro2296=)
c.6849T>G (p.Pro2283=)
c.6795T>G (p.Pro2265=)
c.6699T>G (p.Pro2233=)
c.6669T>G (p.Pro2223=)
c.6594T>G (p.Pro2198=)
c.6492T>G (p.Pro2164=)
c.6123T>G (p.Pro2041=)
ClinVar
5g.112842567G>ACA16036534APCc.7027G>A (p.Gly2343Ser)
c.*6979G>A (n.*6979G>A)
c.6919G>A (p.Gly2307Ser)
c.6973G>A (p.Gly2325Ser)
c.*6295G>A (n.*6295G>A)
c.230+13595G>A
c.7003G>A (p.Gly2335Ser)
c.6898G>A (p.Gly2300Ser)
c.6889G>A (p.Gly2297Ser)
c.6850G>A (p.Gly2284Ser)
c.6796G>A (p.Gly2266Ser)
c.6700G>A (p.Gly2234Ser)
c.6670G>A (p.Gly2224Ser)
c.6595G>A (p.Gly2199Ser)
c.6493G>A (p.Gly2165Ser)
c.6124G>A (p.Gly2042Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842567G>CCA16036535APCc.7027G>C (p.Gly2343Arg)
c.*6979G>C (n.*6979G>C)
c.6919G>C (p.Gly2307Arg)
c.6973G>C (p.Gly2325Arg)
c.*6295G>C (n.*6295G>C)
c.230+13595G>C
c.7003G>C (p.Gly2335Arg)
c.6898G>C (p.Gly2300Arg)
c.6889G>C (p.Gly2297Arg)
c.6850G>C (p.Gly2284Arg)
c.6796G>C (p.Gly2266Arg)
c.6700G>C (p.Gly2234Arg)
c.6670G>C (p.Gly2224Arg)
c.6595G>C (p.Gly2199Arg)
c.6493G>C (p.Gly2165Arg)
c.6124G>C (p.Gly2042Arg)
dbSNP
5g.112842567G=CA1573465655APCc.7027G= (p.Gly2343=)
c.*6979G= (n.*6979G=)
c.6919G= (p.Gly2307=)
c.6973G= (p.Gly2325=)
c.*6295G= (n.*6295G=)
c.230+13595G=
c.7003G= (p.Gly2335=)
c.6898G= (p.Gly2300=)
c.6889G= (p.Gly2297=)
c.6850G= (p.Gly2284=)
c.6796G= (p.Gly2266=)
c.6700G= (p.Gly2234=)
c.6670G= (p.Gly2224=)
c.6595G= (p.Gly2199=)
c.6493G= (p.Gly2165=)
c.6124G= (p.Gly2042=)
5g.112842567G>TCA16036536APCc.7027G>T (p.Gly2343Cys)
c.*6979G>T (n.*6979G>T)
c.6919G>T (p.Gly2307Cys)
c.6973G>T (p.Gly2325Cys)
c.*6295G>T (n.*6295G>T)
c.230+13595G>T
c.7003G>T (p.Gly2335Cys)
c.6898G>T (p.Gly2300Cys)
c.6889G>T (p.Gly2297Cys)
c.6850G>T (p.Gly2284Cys)
c.6796G>T (p.Gly2266Cys)
c.6700G>T (p.Gly2234Cys)
c.6670G>T (p.Gly2224Cys)
c.6595G>T (p.Gly2199Cys)
c.6493G>T (p.Gly2165Cys)
c.6124G>T (p.Gly2042Cys)
dbSNP
5g.112842568G>ACA16036537APCc.7028G>A (p.Gly2343Asp)
c.*6980G>A (n.*6980G>A)
c.6920G>A (p.Gly2307Asp)
c.6974G>A (p.Gly2325Asp)
c.*6296G>A (n.*6296G>A)
c.230+13596G>A
c.7004G>A (p.Gly2335Asp)
c.6899G>A (p.Gly2300Asp)
c.6890G>A (p.Gly2297Asp)
c.6851G>A (p.Gly2284Asp)
c.6797G>A (p.Gly2266Asp)
c.6701G>A (p.Gly2234Asp)
c.6671G>A (p.Gly2224Asp)
c.6596G>A (p.Gly2199Asp)
c.6494G>A (p.Gly2165Asp)
c.6125G>A (p.Gly2042Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842568G>CCA16036538APCc.7028G>C (p.Gly2343Ala)
c.*6980G>C (n.*6980G>C)
c.6920G>C (p.Gly2307Ala)
c.6974G>C (p.Gly2325Ala)
c.*6296G>C (n.*6296G>C)
c.230+13596G>C
c.7004G>C (p.Gly2335Ala)
c.6899G>C (p.Gly2300Ala)
c.6890G>C (p.Gly2297Ala)
c.6851G>C (p.Gly2284Ala)
c.6797G>C (p.Gly2266Ala)
c.6701G>C (p.Gly2234Ala)
c.6671G>C (p.Gly2224Ala)
c.6596G>C (p.Gly2199Ala)
c.6494G>C (p.Gly2165Ala)
c.6125G>C (p.Gly2042Ala)
dbSNP
5g.112842568G=CA1573465666APCc.7028G= (p.Gly2343=)
c.*6980G= (n.*6980G=)
c.6920G= (p.Gly2307=)
c.6974G= (p.Gly2325=)
c.*6296G= (n.*6296G=)
c.230+13596G=
c.7004G= (p.Gly2335=)
c.6899G= (p.Gly2300=)
c.6890G= (p.Gly2297=)
c.6851G= (p.Gly2284=)
c.6797G= (p.Gly2266=)
c.6701G= (p.Gly2234=)
c.6671G= (p.Gly2224=)
c.6596G= (p.Gly2199=)
c.6494G= (p.Gly2165=)
c.6125G= (p.Gly2042=)
5g.112842568G>TCA16036539APCc.7028G>T (p.Gly2343Val)
c.*6980G>T (n.*6980G>T)
c.6920G>T (p.Gly2307Val)
c.6974G>T (p.Gly2325Val)
c.*6296G>T (n.*6296G>T)
c.230+13596G>T
c.7004G>T (p.Gly2335Val)
c.6899G>T (p.Gly2300Val)
c.6890G>T (p.Gly2297Val)
c.6851G>T (p.Gly2284Val)
c.6797G>T (p.Gly2266Val)
c.6701G>T (p.Gly2234Val)
c.6671G>T (p.Gly2224Val)
c.6596G>T (p.Gly2199Val)
c.6494G>T (p.Gly2165Val)
c.6125G>T (p.Gly2042Val)
dbSNP
5g.112842569C>ACA446210620APCc.7029C>A (p.Gly2343=)
c.*6981C>A (n.*6981C>A)
c.6921C>A (p.Gly2307=)
c.6975C>A (p.Gly2325=)
c.*6297C>A (n.*6297C>A)
c.230+13597C>A
c.7005C>A (p.Gly2335=)
c.6900C>A (p.Gly2300=)
c.6891C>A (p.Gly2297=)
c.6852C>A (p.Gly2284=)
c.6798C>A (p.Gly2266=)
c.6702C>A (p.Gly2234=)
c.6672C>A (p.Gly2224=)
c.6597C>A (p.Gly2199=)
c.6495C>A (p.Gly2165=)
c.6126C>A (p.Gly2042=)
dbSNP
5g.112842569C>GCA446210621APCc.7029C>G (p.Gly2343=)
c.*6981C>G (n.*6981C>G)
c.6921C>G (p.Gly2307=)
c.6975C>G (p.Gly2325=)
c.*6297C>G (n.*6297C>G)
c.230+13597C>G
c.7005C>G (p.Gly2335=)
c.6900C>G (p.Gly2300=)
c.6891C>G (p.Gly2297=)
c.6852C>G (p.Gly2284=)
c.6798C>G (p.Gly2266=)
c.6702C>G (p.Gly2234=)
c.6672C>G (p.Gly2224=)
c.6597C>G (p.Gly2199=)
c.6495C>G (p.Gly2165=)
c.6126C>G (p.Gly2042=)
dbSNP
5g.112842569C>TCA446210622APCc.7029C>T (p.Gly2343=)
c.*6981C>T (n.*6981C>T)
c.6921C>T (p.Gly2307=)
c.6975C>T (p.Gly2325=)
c.*6297C>T (n.*6297C>T)
c.230+13597C>T
c.7005C>T (p.Gly2335=)
c.6900C>T (p.Gly2300=)
c.6891C>T (p.Gly2297=)
c.6852C>T (p.Gly2284=)
c.6798C>T (p.Gly2266=)
c.6702C>T (p.Gly2234=)
c.6672C>T (p.Gly2224=)
c.6597C>T (p.Gly2199=)
c.6495C>T (p.Gly2165=)
c.6126C>T (p.Gly2042=)
ClinVar dbSNP gnomAD v4
5g.112842570C>ACA446210624APCc.7030C>A (p.Arg2344=)
c.*6982C>A (n.*6982C>A)
c.6922C>A (p.Arg2308=)
c.6976C>A (p.Arg2326=)
c.*6298C>A (n.*6298C>A)
c.230+13598C>A
c.7006C>A (p.Arg2336=)
c.6901C>A (p.Arg2301=)
c.6892C>A (p.Arg2298=)
c.6853C>A (p.Arg2285=)
c.6799C>A (p.Arg2267=)
c.6703C>A (p.Arg2235=)
c.6673C>A (p.Arg2225=)
c.6598C>A (p.Arg2200=)
c.6496C>A (p.Arg2166=)
c.6127C>A (p.Arg2043=)
ClinVar dbSNP
5g.112842570C=CA1573465708APCc.7030C= (p.Arg2344=)
c.*6982C= (n.*6982C=)
c.6922C= (p.Arg2308=)
c.6976C= (p.Arg2326=)
c.*6298C= (n.*6298C=)
c.230+13598C=
c.7006C= (p.Arg2336=)
c.6901C= (p.Arg2301=)
c.6892C= (p.Arg2298=)
c.6853C= (p.Arg2285=)
c.6799C= (p.Arg2267=)
c.6703C= (p.Arg2235=)
c.6673C= (p.Arg2225=)
c.6598C= (p.Arg2200=)
c.6496C= (p.Arg2166=)
c.6127C= (p.Arg2043=)
5g.112842570C>GCA16036540APCc.7030C>G (p.Arg2344Gly)
c.*6982C>G (n.*6982C>G)
c.6922C>G (p.Arg2308Gly)
c.6976C>G (p.Arg2326Gly)
c.*6298C>G (n.*6298C>G)
c.230+13598C>G
c.7006C>G (p.Arg2336Gly)
c.6901C>G (p.Arg2301Gly)
c.6892C>G (p.Arg2298Gly)
c.6853C>G (p.Arg2285Gly)
c.6799C>G (p.Arg2267Gly)
c.6703C>G (p.Arg2235Gly)
c.6673C>G (p.Arg2225Gly)
c.6598C>G (p.Arg2200Gly)
c.6496C>G (p.Arg2166Gly)
c.6127C>G (p.Arg2043Gly)
ClinVar dbSNP gnomAD v4
5g.112842570C>TCA16036541APCc.7030C>T (p.Arg2344Ter)
c.*6982C>T (n.*6982C>T)
c.6922C>T (p.Arg2308Ter)
c.6976C>T (p.Arg2326Ter)
c.*6298C>T (n.*6298C>T)
c.230+13598C>T
c.7006C>T (p.Arg2336Ter)
c.6901C>T (p.Arg2301Ter)
c.6892C>T (p.Arg2298Ter)
c.6853C>T (p.Arg2285Ter)
c.6799C>T (p.Arg2267Ter)
c.6703C>T (p.Arg2235Ter)
c.6673C>T (p.Arg2225Ter)
c.6598C>T (p.Arg2200Ter)
c.6496C>T (p.Arg2166Ter)
c.6127C>T (p.Arg2043Ter)
ClinVar dbSNP COSMIC
5g.112842571G>ACA012730APCc.7031G>A (p.Arg2344Gln)
c.*6983G>A (n.*6983G>A)
c.6923G>A (p.Arg2308Gln)
c.6977G>A (p.Arg2326Gln)
c.*6299G>A (n.*6299G>A)
c.230+13599G>A
c.7007G>A (p.Arg2336Gln)
c.6902G>A (p.Arg2301Gln)
c.6893G>A (p.Arg2298Gln)
c.6854G>A (p.Arg2285Gln)
c.6800G>A (p.Arg2267Gln)
c.6704G>A (p.Arg2235Gln)
c.6674G>A (p.Arg2225Gln)
c.6599G>A (p.Arg2200Gln)
c.6497G>A (p.Arg2166Gln)
c.6128G>A (p.Arg2043Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842571G>CCA16036542APCc.7031G>C (p.Arg2344Pro)
c.*6983G>C (n.*6983G>C)
c.6923G>C (p.Arg2308Pro)
c.6977G>C (p.Arg2326Pro)
c.*6299G>C (n.*6299G>C)
c.230+13599G>C
c.7007G>C (p.Arg2336Pro)
c.6902G>C (p.Arg2301Pro)
c.6893G>C (p.Arg2298Pro)
c.6854G>C (p.Arg2285Pro)
c.6800G>C (p.Arg2267Pro)
c.6704G>C (p.Arg2235Pro)
c.6674G>C (p.Arg2225Pro)
c.6599G>C (p.Arg2200Pro)
c.6497G>C (p.Arg2166Pro)
c.6128G>C (p.Arg2043Pro)
5g.112842571G=CA1573465717APCc.7031G= (p.Arg2344=)
c.*6983G= (n.*6983G=)
c.6923G= (p.Arg2308=)
c.6977G= (p.Arg2326=)
c.*6299G= (n.*6299G=)
c.230+13599G=
c.7007G= (p.Arg2336=)
c.6902G= (p.Arg2301=)
c.6893G= (p.Arg2298=)
c.6854G= (p.Arg2285=)
c.6800G= (p.Arg2267=)
c.6704G= (p.Arg2235=)
c.6674G= (p.Arg2225=)
c.6599G= (p.Arg2200=)
c.6497G= (p.Arg2166=)
c.6128G= (p.Arg2043=)
5g.112842571G>TCA16036543APCc.7031G>T (p.Arg2344Leu)
c.*6983G>T (n.*6983G>T)
c.6923G>T (p.Arg2308Leu)
c.6977G>T (p.Arg2326Leu)
c.*6299G>T (n.*6299G>T)
c.230+13599G>T
c.7007G>T (p.Arg2336Leu)
c.6902G>T (p.Arg2301Leu)
c.6893G>T (p.Arg2298Leu)
c.6854G>T (p.Arg2285Leu)
c.6800G>T (p.Arg2267Leu)
c.6704G>T (p.Arg2235Leu)
c.6674G>T (p.Arg2225Leu)
c.6599G>T (p.Arg2200Leu)
c.6497G>T (p.Arg2166Leu)
c.6128G>T (p.Arg2043Leu)
5g.112842572A>CCA446210629APCc.7032A>C (p.Arg2344=)
c.*6984A>C (n.*6984A>C)
c.6924A>C (p.Arg2308=)
c.6978A>C (p.Arg2326=)
c.*6300A>C (n.*6300A>C)
c.230+13600A>C
c.7008A>C (p.Arg2336=)
c.6903A>C (p.Arg2301=)
c.6894A>C (p.Arg2298=)
c.6855A>C (p.Arg2285=)
c.6801A>C (p.Arg2267=)
c.6705A>C (p.Arg2235=)
c.6675A>C (p.Arg2225=)
c.6600A>C (p.Arg2200=)
c.6498A>C (p.Arg2166=)
c.6129A>C (p.Arg2043=)
5g.112842572A>GCA446210630APCc.7032A>G (p.Arg2344=)
c.*6984A>G (n.*6984A>G)
c.6924A>G (p.Arg2308=)
c.6978A>G (p.Arg2326=)
c.*6300A>G (n.*6300A>G)
c.230+13600A>G
c.7008A>G (p.Arg2336=)
c.6903A>G (p.Arg2301=)
c.6894A>G (p.Arg2298=)
c.6855A>G (p.Arg2285=)
c.6801A>G (p.Arg2267=)
c.6705A>G (p.Arg2235=)
c.6675A>G (p.Arg2225=)
c.6600A>G (p.Arg2200=)
c.6498A>G (p.Arg2166=)
c.6129A>G (p.Arg2043=)
dbSNP gnomAD v4
5g.112842572A>TCA446210631APCc.7032A>T (p.Arg2344=)
c.*6984A>T (n.*6984A>T)
c.6924A>T (p.Arg2308=)
c.6978A>T (p.Arg2326=)
c.*6300A>T (n.*6300A>T)
c.230+13600A>T
c.7008A>T (p.Arg2336=)
c.6903A>T (p.Arg2301=)
c.6894A>T (p.Arg2298=)
c.6855A>T (p.Arg2285=)
c.6801A>T (p.Arg2267=)
c.6705A>T (p.Arg2235=)
c.6675A>T (p.Arg2225=)
c.6600A>T (p.Arg2200=)
c.6498A>T (p.Arg2166=)
c.6129A>T (p.Arg2043=)
dbSNP
5g.112842573A>CCA16036544APCc.7033A>C (p.Asn2345His)
c.*6985A>C (n.*6985A>C)
c.6925A>C (p.Asn2309His)
c.6979A>C (p.Asn2327His)
c.*6301A>C (n.*6301A>C)
c.230+13601A>C
c.7009A>C (p.Asn2337His)
c.6904A>C (p.Asn2302His)
c.6895A>C (p.Asn2299His)
c.6856A>C (p.Asn2286His)
c.6802A>C (p.Asn2268His)
c.6706A>C (p.Asn2236His)
c.6676A>C (p.Asn2226His)
c.6601A>C (p.Asn2201His)
c.6499A>C (p.Asn2167His)
c.6130A>C (p.Asn2044His)
dbSNP
5g.112842573A>GCA16036545APCc.7033A>G (p.Asn2345Asp)
c.*6985A>G (n.*6985A>G)
c.6925A>G (p.Asn2309Asp)
c.6979A>G (p.Asn2327Asp)
c.*6301A>G (n.*6301A>G)
c.230+13601A>G
c.7009A>G (p.Asn2337Asp)
c.6904A>G (p.Asn2302Asp)
c.6895A>G (p.Asn2299Asp)
c.6856A>G (p.Asn2286Asp)
c.6802A>G (p.Asn2268Asp)
c.6706A>G (p.Asn2236Asp)
c.6676A>G (p.Asn2226Asp)
c.6601A>G (p.Asn2201Asp)
c.6499A>G (p.Asn2167Asp)
c.6130A>G (p.Asn2044Asp)
dbSNP
5g.112842573A>TCA16036546APCc.7033A>T (p.Asn2345Tyr)
c.*6985A>T (n.*6985A>T)
c.6925A>T (p.Asn2309Tyr)
c.6979A>T (p.Asn2327Tyr)
c.*6301A>T (n.*6301A>T)
c.230+13601A>T
c.7009A>T (p.Asn2337Tyr)
c.6904A>T (p.Asn2302Tyr)
c.6895A>T (p.Asn2299Tyr)
c.6856A>T (p.Asn2286Tyr)
c.6802A>T (p.Asn2268Tyr)
c.6706A>T (p.Asn2236Tyr)
c.6676A>T (p.Asn2226Tyr)
c.6601A>T (p.Asn2201Tyr)
c.6499A>T (p.Asn2167Tyr)
c.6130A>T (p.Asn2044Tyr)
dbSNP
5g.112842574A>CCA16036547APCc.7034A>C (p.Asn2345Thr)
c.*6986A>C (n.*6986A>C)
c.6926A>C (p.Asn2309Thr)
c.6980A>C (p.Asn2327Thr)
c.*6302A>C (n.*6302A>C)
c.230+13602A>C
c.7010A>C (p.Asn2337Thr)
c.6905A>C (p.Asn2302Thr)
c.6896A>C (p.Asn2299Thr)
c.6857A>C (p.Asn2286Thr)
c.6803A>C (p.Asn2268Thr)
c.6707A>C (p.Asn2236Thr)
c.6677A>C (p.Asn2226Thr)
c.6602A>C (p.Asn2201Thr)
c.6500A>C (p.Asn2167Thr)
c.6131A>C (p.Asn2044Thr)
dbSNP
5g.112842574A>GCA16036548APCc.7034A>G (p.Asn2345Ser)
c.*6986A>G (n.*6986A>G)
c.6926A>G (p.Asn2309Ser)
c.6980A>G (p.Asn2327Ser)
c.*6302A>G (n.*6302A>G)
c.230+13602A>G
c.7010A>G (p.Asn2337Ser)
c.6905A>G (p.Asn2302Ser)
c.6896A>G (p.Asn2299Ser)
c.6857A>G (p.Asn2286Ser)
c.6803A>G (p.Asn2268Ser)
c.6707A>G (p.Asn2236Ser)
c.6677A>G (p.Asn2226Ser)
c.6602A>G (p.Asn2201Ser)
c.6500A>G (p.Asn2167Ser)
c.6131A>G (p.Asn2044Ser)
ClinVar dbSNP
5g.112842574A>TCA16036549APCc.7034A>T (p.Asn2345Ile)
c.*6986A>T (n.*6986A>T)
c.6926A>T (p.Asn2309Ile)
c.6980A>T (p.Asn2327Ile)
c.*6302A>T (n.*6302A>T)
c.230+13602A>T
c.7010A>T (p.Asn2337Ile)
c.6905A>T (p.Asn2302Ile)
c.6896A>T (p.Asn2299Ile)
c.6857A>T (p.Asn2286Ile)
c.6803A>T (p.Asn2268Ile)
c.6707A>T (p.Asn2236Ile)
c.6677A>T (p.Asn2226Ile)
c.6602A>T (p.Asn2201Ile)
c.6500A>T (p.Asn2167Ile)
c.6131A>T (p.Asn2044Ile)
dbSNP
5g.112842575C>ACA16036550APCc.7035C>A (p.Asn2345Lys)
c.*6987C>A (n.*6987C>A)
c.6927C>A (p.Asn2309Lys)
c.6981C>A (p.Asn2327Lys)
c.*6303C>A (n.*6303C>A)
c.230+13603C>A
c.7011C>A (p.Asn2337Lys)
c.6906C>A (p.Asn2302Lys)
c.6897C>A (p.Asn2299Lys)
c.6858C>A (p.Asn2286Lys)
c.6804C>A (p.Asn2268Lys)
c.6708C>A (p.Asn2236Lys)
c.6678C>A (p.Asn2226Lys)
c.6603C>A (p.Asn2201Lys)
c.6501C>A (p.Asn2167Lys)
c.6132C>A (p.Asn2044Lys)
ClinVar dbSNP
5g.112842575C=CA1573465742APCc.7035C= (p.Asn2345=)
c.*6987C= (n.*6987C=)
c.6927C= (p.Asn2309=)
c.6981C= (p.Asn2327=)
c.*6303C= (n.*6303C=)
c.230+13603C=
c.7011C= (p.Asn2337=)
c.6906C= (p.Asn2302=)
c.6897C= (p.Asn2299=)
c.6858C= (p.Asn2286=)
c.6804C= (p.Asn2268=)
c.6708C= (p.Asn2236=)
c.6678C= (p.Asn2226=)
c.6603C= (p.Asn2201=)
c.6501C= (p.Asn2167=)
c.6132C= (p.Asn2044=)
5g.112842575C>GCA16036551APCc.7035C>G (p.Asn2345Lys)
c.*6987C>G (n.*6987C>G)
c.6927C>G (p.Asn2309Lys)
c.6981C>G (p.Asn2327Lys)
c.*6303C>G (n.*6303C>G)
c.230+13603C>G
c.7011C>G (p.Asn2337Lys)
c.6906C>G (p.Asn2302Lys)
c.6897C>G (p.Asn2299Lys)
c.6858C>G (p.Asn2286Lys)
c.6804C>G (p.Asn2268Lys)
c.6708C>G (p.Asn2236Lys)
c.6678C>G (p.Asn2226Lys)
c.6603C>G (p.Asn2201Lys)
c.6501C>G (p.Asn2167Lys)
c.6132C>G (p.Asn2044Lys)
ClinVar dbSNP
5g.112842575C>TCA125167808APCc.7035C>T (p.Asn2345=)
c.*6987C>T (n.*6987C>T)
c.6927C>T (p.Asn2309=)
c.6981C>T (p.Asn2327=)
c.*6303C>T (n.*6303C>T)
c.230+13603C>T
c.7011C>T (p.Asn2337=)
c.6906C>T (p.Asn2302=)
c.6897C>T (p.Asn2299=)
c.6858C>T (p.Asn2286=)
c.6804C>T (p.Asn2268=)
c.6708C>T (p.Asn2236=)
c.6678C>T (p.Asn2226=)
c.6603C>T (p.Asn2201=)
c.6501C>T (p.Asn2167=)
c.6132C>T (p.Asn2044=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842576T>ACA16036552APCc.7036T>A (p.Ser2346Thr)
c.*6988T>A (n.*6988T>A)
c.6928T>A (p.Ser2310Thr)
c.6982T>A (p.Ser2328Thr)
c.*6304T>A (n.*6304T>A)
c.230+13604T>A
c.7012T>A (p.Ser2338Thr)
c.6907T>A (p.Ser2303Thr)
c.6898T>A (p.Ser2300Thr)
c.6859T>A (p.Ser2287Thr)
c.6805T>A (p.Ser2269Thr)
c.6709T>A (p.Ser2237Thr)
c.6679T>A (p.Ser2227Thr)
c.6604T>A (p.Ser2202Thr)
c.6502T>A (p.Ser2168Thr)
c.6133T>A (p.Ser2045Thr)
ClinVar dbSNP
5g.112842576T>CCA16036553APCc.7036T>C (p.Ser2346Pro)
c.*6988T>C (n.*6988T>C)
c.6928T>C (p.Ser2310Pro)
c.6982T>C (p.Ser2328Pro)
c.*6304T>C (n.*6304T>C)
c.230+13604T>C
c.7012T>C (p.Ser2338Pro)
c.6907T>C (p.Ser2303Pro)
c.6898T>C (p.Ser2300Pro)
c.6859T>C (p.Ser2287Pro)
c.6805T>C (p.Ser2269Pro)
c.6709T>C (p.Ser2237Pro)
c.6679T>C (p.Ser2227Pro)
c.6604T>C (p.Ser2202Pro)
c.6502T>C (p.Ser2168Pro)
c.6133T>C (p.Ser2045Pro)
dbSNP
5g.112842576T>GCA16036554APCc.7036T>G (p.Ser2346Ala)
c.*6988T>G (n.*6988T>G)
c.6928T>G (p.Ser2310Ala)
c.6982T>G (p.Ser2328Ala)
c.*6304T>G (n.*6304T>G)
c.230+13604T>G
c.7012T>G (p.Ser2338Ala)
c.6907T>G (p.Ser2303Ala)
c.6898T>G (p.Ser2300Ala)
c.6859T>G (p.Ser2287Ala)
c.6805T>G (p.Ser2269Ala)
c.6709T>G (p.Ser2237Ala)
c.6679T>G (p.Ser2227Ala)
c.6604T>G (p.Ser2202Ala)
c.6502T>G (p.Ser2168Ala)
c.6133T>G (p.Ser2045Ala)
5g.112842576T=CA1573465750APCc.7036T= (p.Ser2346=)
c.*6988T= (n.*6988T=)
c.6928T= (p.Ser2310=)
c.6982T= (p.Ser2328=)
c.*6304T= (n.*6304T=)
c.230+13604T=
c.7012T= (p.Ser2338=)
c.6907T= (p.Ser2303=)
c.6898T= (p.Ser2300=)
c.6859T= (p.Ser2287=)
c.6805T= (p.Ser2269=)
c.6709T= (p.Ser2237=)
c.6679T= (p.Ser2227=)
c.6604T= (p.Ser2202=)
c.6502T= (p.Ser2168=)
c.6133T= (p.Ser2045=)
5g.112842577C>ACA16036555APCc.7037C>A (p.Ser2346Ter)
c.*6989C>A (n.*6989C>A)
c.6929C>A (p.Ser2310Ter)
c.6983C>A (p.Ser2328Ter)
c.*6305C>A (n.*6305C>A)
c.230+13605C>A
c.7013C>A (p.Ser2338Ter)
c.6908C>A (p.Ser2303Ter)
c.6899C>A (p.Ser2300Ter)
c.6860C>A (p.Ser2287Ter)
c.6806C>A (p.Ser2269Ter)
c.6710C>A (p.Ser2237Ter)
c.6680C>A (p.Ser2227Ter)
c.6605C>A (p.Ser2202Ter)
c.6503C>A (p.Ser2168Ter)
c.6134C>A (p.Ser2045Ter)
dbSNP
5g.112842577C=CA1573465757APCc.7037C= (p.Ser2346=)
c.*6989C= (n.*6989C=)
c.6929C= (p.Ser2310=)
c.6983C= (p.Ser2328=)
c.*6305C= (n.*6305C=)
c.230+13605C=
c.7013C= (p.Ser2338=)
c.6908C= (p.Ser2303=)
c.6899C= (p.Ser2300=)
c.6860C= (p.Ser2287=)
c.6806C= (p.Ser2269=)
c.6710C= (p.Ser2237=)
c.6680C= (p.Ser2227=)
c.6605C= (p.Ser2202=)
c.6503C= (p.Ser2168=)
c.6134C= (p.Ser2045=)
5g.112842577C>GCA16036556APCc.7037C>G (p.Ser2346Ter)
c.*6989C>G (n.*6989C>G)
c.6929C>G (p.Ser2310Ter)
c.6983C>G (p.Ser2328Ter)
c.*6305C>G (n.*6305C>G)
c.230+13605C>G
c.7013C>G (p.Ser2338Ter)
c.6908C>G (p.Ser2303Ter)
c.6899C>G (p.Ser2300Ter)
c.6860C>G (p.Ser2287Ter)
c.6806C>G (p.Ser2269Ter)
c.6710C>G (p.Ser2237Ter)
c.6680C>G (p.Ser2227Ter)
c.6605C>G (p.Ser2202Ter)
c.6503C>G (p.Ser2168Ter)
c.6134C>G (p.Ser2045Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842577C>TCA16036557APCc.7037C>T (p.Ser2346Leu)
c.*6989C>T (n.*6989C>T)
c.6929C>T (p.Ser2310Leu)
c.6983C>T (p.Ser2328Leu)
c.*6305C>T (n.*6305C>T)
c.230+13605C>T
c.7013C>T (p.Ser2338Leu)
c.6908C>T (p.Ser2303Leu)
c.6899C>T (p.Ser2300Leu)
c.6860C>T (p.Ser2287Leu)
c.6806C>T (p.Ser2269Leu)
c.6710C>T (p.Ser2237Leu)
c.6680C>T (p.Ser2227Leu)
c.6605C>T (p.Ser2202Leu)
c.6503C>T (p.Ser2168Leu)
c.6134C>T (p.Ser2045Leu)
ClinVar dbSNP
5g.112842578A=CA1573465761APCc.7038A= (p.Ser2346=)
c.*6990A= (n.*6990A=)
c.6930A= (p.Ser2310=)
c.6984A= (p.Ser2328=)
c.*6306A= (n.*6306A=)
c.230+13606A=
c.7014A= (p.Ser2338=)
c.6909A= (p.Ser2303=)
c.6900A= (p.Ser2300=)
c.6861A= (p.Ser2287=)
c.6807A= (p.Ser2269=)
c.6711A= (p.Ser2237=)
c.6681A= (p.Ser2227=)
c.6606A= (p.Ser2202=)
c.6504A= (p.Ser2168=)
c.6135A= (p.Ser2045=)
5g.112842578A>CCA446210639APCc.7038A>C (p.Ser2346=)
c.*6990A>C (n.*6990A>C)
c.6930A>C (p.Ser2310=)
c.6984A>C (p.Ser2328=)
c.*6306A>C (n.*6306A>C)
c.230+13606A>C
c.7014A>C (p.Ser2338=)
c.6909A>C (p.Ser2303=)
c.6900A>C (p.Ser2300=)
c.6861A>C (p.Ser2287=)
c.6807A>C (p.Ser2269=)
c.6711A>C (p.Ser2237=)
c.6681A>C (p.Ser2227=)
c.6606A>C (p.Ser2202=)
c.6504A>C (p.Ser2168=)
c.6135A>C (p.Ser2045=)
5g.112842578A>GCA446210640APCc.7038A>G (p.Ser2346=)
c.*6990A>G (n.*6990A>G)
c.6930A>G (p.Ser2310=)
c.6984A>G (p.Ser2328=)
c.*6306A>G (n.*6306A>G)
c.230+13606A>G
c.7014A>G (p.Ser2338=)
c.6909A>G (p.Ser2303=)
c.6900A>G (p.Ser2300=)
c.6861A>G (p.Ser2287=)
c.6807A>G (p.Ser2269=)
c.6711A>G (p.Ser2237=)
c.6681A>G (p.Ser2227=)
c.6606A>G (p.Ser2202=)
c.6504A>G (p.Ser2168=)
c.6135A>G (p.Ser2045=)
dbSNP
5g.112842578A>TCA446210641APCc.7038A>T (p.Ser2346=)
c.*6990A>T (n.*6990A>T)
c.6930A>T (p.Ser2310=)
c.6984A>T (p.Ser2328=)
c.*6306A>T (n.*6306A>T)
c.230+13606A>T
c.7014A>T (p.Ser2338=)
c.6909A>T (p.Ser2303=)
c.6900A>T (p.Ser2300=)
c.6861A>T (p.Ser2287=)
c.6807A>T (p.Ser2269=)
c.6711A>T (p.Ser2237=)
c.6681A>T (p.Ser2227=)
c.6606A>T (p.Ser2202=)
c.6504A>T (p.Ser2168=)
c.6135A>T (p.Ser2045=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842579dupCA2582341617APCc.7039dup (p.Ile2347AsnfsTer5)
c.*6991dup (n.*6991dup)
c.6931dup (p.Ile2311AsnfsTer5)
c.6985dup (p.Ile2329AsnfsTer5)
c.*6307dup (n.*6307dup)
c.230+13607dup
c.7015dup (p.Ile2339AsnfsTer5)
c.6910dup (p.Ile2304AsnfsTer5)
c.6901dup (p.Ile2301AsnfsTer5)
c.6862dup (p.Ile2288AsnfsTer5)
c.6808dup (p.Ile2270AsnfsTer5)
c.6712dup (p.Ile2238AsnfsTer5)
c.6682dup (p.Ile2228AsnfsTer5)
c.6607dup (p.Ile2203AsnfsTer5)
c.6505dup (p.Ile2169AsnfsTer5)
c.6136dup (p.Ile2046AsnfsTer5)
ClinVar
5g.112842579A=CA1573465770APCc.7039A= (p.Ile2347=)
c.*6991A= (n.*6991A=)
c.6931A= (p.Ile2311=)
c.6985A= (p.Ile2329=)
c.*6307A= (n.*6307A=)
c.230+13607A=
c.7015A= (p.Ile2339=)
c.6910A= (p.Ile2304=)
c.6901A= (p.Ile2301=)
c.6862A= (p.Ile2288=)
c.6808A= (p.Ile2270=)
c.6712A= (p.Ile2238=)
c.6682A= (p.Ile2228=)
c.6607A= (p.Ile2203=)
c.6505A= (p.Ile2169=)
c.6136A= (p.Ile2046=)
5g.112842579A>CCA16036558APCc.7039A>C (p.Ile2347Leu)
c.*6991A>C (n.*6991A>C)
c.6931A>C (p.Ile2311Leu)
c.6985A>C (p.Ile2329Leu)
c.*6307A>C (n.*6307A>C)
c.230+13607A>C
c.7015A>C (p.Ile2339Leu)
c.6910A>C (p.Ile2304Leu)
c.6901A>C (p.Ile2301Leu)
c.6862A>C (p.Ile2288Leu)
c.6808A>C (p.Ile2270Leu)
c.6712A>C (p.Ile2238Leu)
c.6682A>C (p.Ile2228Leu)
c.6607A>C (p.Ile2203Leu)
c.6505A>C (p.Ile2169Leu)
c.6136A>C (p.Ile2046Leu)
dbSNP
5g.112842579A>GCA012738APCc.7039A>G (p.Ile2347Val)
c.*6991A>G (n.*6991A>G)
c.6931A>G (p.Ile2311Val)
c.6985A>G (p.Ile2329Val)
c.*6307A>G (n.*6307A>G)
c.230+13607A>G
c.7015A>G (p.Ile2339Val)
c.6910A>G (p.Ile2304Val)
c.6901A>G (p.Ile2301Val)
c.6862A>G (p.Ile2288Val)
c.6808A>G (p.Ile2270Val)
c.6712A>G (p.Ile2238Val)
c.6682A>G (p.Ile2228Val)
c.6607A>G (p.Ile2203Val)
c.6505A>G (p.Ile2169Val)
c.6136A>G (p.Ile2046Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112842579A>TCA16036559APCc.7039A>T (p.Ile2347Phe)
c.*6991A>T (n.*6991A>T)
c.6931A>T (p.Ile2311Phe)
c.6985A>T (p.Ile2329Phe)
c.*6307A>T (n.*6307A>T)
c.230+13607A>T
c.7015A>T (p.Ile2339Phe)
c.6910A>T (p.Ile2304Phe)
c.6901A>T (p.Ile2301Phe)
c.6862A>T (p.Ile2288Phe)
c.6808A>T (p.Ile2270Phe)
c.6712A>T (p.Ile2238Phe)
c.6682A>T (p.Ile2228Phe)
c.6607A>T (p.Ile2203Phe)
c.6505A>T (p.Ile2169Phe)
c.6136A>T (p.Ile2046Phe)
ClinVar dbSNP
5g.112842580T>ACA16036560APCc.7040T>A (p.Ile2347Asn)
c.*6992T>A (n.*6992T>A)
c.6932T>A (p.Ile2311Asn)
c.6986T>A (p.Ile2329Asn)
c.*6308T>A (n.*6308T>A)
c.230+13608T>A
c.7016T>A (p.Ile2339Asn)
c.6911T>A (p.Ile2304Asn)
c.6902T>A (p.Ile2301Asn)
c.6863T>A (p.Ile2288Asn)
c.6809T>A (p.Ile2270Asn)
c.6713T>A (p.Ile2238Asn)
c.6683T>A (p.Ile2228Asn)
c.6608T>A (p.Ile2203Asn)
c.6506T>A (p.Ile2169Asn)
c.6137T>A (p.Ile2046Asn)
dbSNP
5g.112842580T>CCA16036561APCc.7040T>C (p.Ile2347Thr)
c.*6992T>C (n.*6992T>C)
c.6932T>C (p.Ile2311Thr)
c.6986T>C (p.Ile2329Thr)
c.*6308T>C (n.*6308T>C)
c.230+13608T>C
c.7016T>C (p.Ile2339Thr)
c.6911T>C (p.Ile2304Thr)
c.6902T>C (p.Ile2301Thr)
c.6863T>C (p.Ile2288Thr)
c.6809T>C (p.Ile2270Thr)
c.6713T>C (p.Ile2238Thr)
c.6683T>C (p.Ile2228Thr)
c.6608T>C (p.Ile2203Thr)
c.6506T>C (p.Ile2169Thr)
c.6137T>C (p.Ile2046Thr)
5g.112842580T>GCA16036562APCc.7040T>G (p.Ile2347Ser)
c.*6992T>G (n.*6992T>G)
c.6932T>G (p.Ile2311Ser)
c.6986T>G (p.Ile2329Ser)
c.*6308T>G (n.*6308T>G)
c.230+13608T>G
c.7016T>G (p.Ile2339Ser)
c.6911T>G (p.Ile2304Ser)
c.6902T>G (p.Ile2301Ser)
c.6863T>G (p.Ile2288Ser)
c.6809T>G (p.Ile2270Ser)
c.6713T>G (p.Ile2238Ser)
c.6683T>G (p.Ile2228Ser)
c.6608T>G (p.Ile2203Ser)
c.6506T>G (p.Ile2169Ser)
c.6137T>G (p.Ile2046Ser)
dbSNP
5g.112842581T>ACA446210650APCc.7041T>A (p.Ile2347=)
c.*6993T>A (n.*6993T>A)
c.6933T>A (p.Ile2311=)
c.6987T>A (p.Ile2329=)
c.*6309T>A (n.*6309T>A)
c.230+13609T>A
c.7017T>A (p.Ile2339=)
c.6912T>A (p.Ile2304=)
c.6903T>A (p.Ile2301=)
c.6864T>A (p.Ile2288=)
c.6810T>A (p.Ile2270=)
c.6714T>A (p.Ile2238=)
c.6684T>A (p.Ile2228=)
c.6609T>A (p.Ile2203=)
c.6507T>A (p.Ile2169=)
c.6138T>A (p.Ile2046=)
dbSNP
5g.112842581T>CCA446210645APCc.7041T>C (p.Ile2347=)
c.*6993T>C (n.*6993T>C)
c.6933T>C (p.Ile2311=)
c.6987T>C (p.Ile2329=)
c.*6309T>C (n.*6309T>C)
c.230+13609T>C
c.7017T>C (p.Ile2339=)
c.6912T>C (p.Ile2304=)
c.6903T>C (p.Ile2301=)
c.6864T>C (p.Ile2288=)
c.6810T>C (p.Ile2270=)
c.6714T>C (p.Ile2238=)
c.6684T>C (p.Ile2228=)
c.6609T>C (p.Ile2203=)
c.6507T>C (p.Ile2169=)
c.6138T>C (p.Ile2046=)
dbSNP
5g.112842581T>GCA16036563APCc.7041T>G (p.Ile2347Met)
c.*6993T>G (n.*6993T>G)
c.6933T>G (p.Ile2311Met)
c.6987T>G (p.Ile2329Met)
c.*6309T>G (n.*6309T>G)
c.230+13609T>G
c.7017T>G (p.Ile2339Met)
c.6912T>G (p.Ile2304Met)
c.6903T>G (p.Ile2301Met)
c.6864T>G (p.Ile2288Met)
c.6810T>G (p.Ile2270Met)
c.6714T>G (p.Ile2238Met)
c.6684T>G (p.Ile2228Met)
c.6609T>G (p.Ile2203Met)
c.6507T>G (p.Ile2169Met)
c.6138T>G (p.Ile2046Met)
5g.112842582T>ACA16036564APCc.7042T>A (p.Ser2348Thr)
c.*6994T>A (n.*6994T>A)
c.6934T>A (p.Ser2312Thr)
c.6988T>A (p.Ser2330Thr)
c.*6310T>A (n.*6310T>A)
c.230+13610T>A
c.7018T>A (p.Ser2340Thr)
c.6913T>A (p.Ser2305Thr)
c.6904T>A (p.Ser2302Thr)
c.6865T>A (p.Ser2289Thr)
c.6811T>A (p.Ser2271Thr)
c.6715T>A (p.Ser2239Thr)
c.6685T>A (p.Ser2229Thr)
c.6610T>A (p.Ser2204Thr)
c.6508T>A (p.Ser2170Thr)
c.6139T>A (p.Ser2047Thr)
ClinVar dbSNP
5g.112842582T>CCA16036565APCc.7042T>C (p.Ser2348Pro)
c.*6994T>C (n.*6994T>C)
c.6934T>C (p.Ser2312Pro)
c.6988T>C (p.Ser2330Pro)
c.*6310T>C (n.*6310T>C)
c.230+13610T>C
c.7018T>C (p.Ser2340Pro)
c.6913T>C (p.Ser2305Pro)
c.6904T>C (p.Ser2302Pro)
c.6865T>C (p.Ser2289Pro)
c.6811T>C (p.Ser2271Pro)
c.6715T>C (p.Ser2239Pro)
c.6685T>C (p.Ser2229Pro)
c.6610T>C (p.Ser2204Pro)
c.6508T>C (p.Ser2170Pro)
c.6139T>C (p.Ser2047Pro)
5g.112842582T>GCA16036566APCc.7042T>G (p.Ser2348Ala)
c.*6994T>G (n.*6994T>G)
c.6934T>G (p.Ser2312Ala)
c.6988T>G (p.Ser2330Ala)
c.*6310T>G (n.*6310T>G)
c.230+13610T>G
c.7018T>G (p.Ser2340Ala)
c.6913T>G (p.Ser2305Ala)
c.6904T>G (p.Ser2302Ala)
c.6865T>G (p.Ser2289Ala)
c.6811T>G (p.Ser2271Ala)
c.6715T>G (p.Ser2239Ala)
c.6685T>G (p.Ser2229Ala)
c.6610T>G (p.Ser2204Ala)
c.6508T>G (p.Ser2170Ala)
c.6139T>G (p.Ser2047Ala)
5g.112842582T=CA1573465783APCc.7042T= (p.Ser2348=)
c.*6994T= (n.*6994T=)
c.6934T= (p.Ser2312=)
c.6988T= (p.Ser2330=)
c.*6310T= (n.*6310T=)
c.230+13610T=
c.7018T= (p.Ser2340=)
c.6913T= (p.Ser2305=)
c.6904T= (p.Ser2302=)
c.6865T= (p.Ser2289=)
c.6811T= (p.Ser2271=)
c.6715T= (p.Ser2239=)
c.6685T= (p.Ser2229=)
c.6610T= (p.Ser2204=)
c.6508T= (p.Ser2170=)
c.6139T= (p.Ser2047=)
5g.112842583C>ACA16036567APCc.7043C>A (p.Ser2348Tyr)
c.*6995C>A (n.*6995C>A)
c.6935C>A (p.Ser2312Tyr)
c.6989C>A (p.Ser2330Tyr)
c.*6311C>A (n.*6311C>A)
c.230+13611C>A
c.7019C>A (p.Ser2340Tyr)
c.6914C>A (p.Ser2305Tyr)
c.6905C>A (p.Ser2302Tyr)
c.6866C>A (p.Ser2289Tyr)
c.6812C>A (p.Ser2271Tyr)
c.6716C>A (p.Ser2239Tyr)
c.6686C>A (p.Ser2229Tyr)
c.6611C>A (p.Ser2204Tyr)
c.6509C>A (p.Ser2170Tyr)
c.6140C>A (p.Ser2047Tyr)
dbSNP
5g.112842583C=CA1573465787APCc.7043C= (p.Ser2348=)
c.*6995C= (n.*6995C=)
c.6935C= (p.Ser2312=)
c.6989C= (p.Ser2330=)
c.*6311C= (n.*6311C=)
c.230+13611C=
c.7019C= (p.Ser2340=)
c.6914C= (p.Ser2305=)
c.6905C= (p.Ser2302=)
c.6866C= (p.Ser2289=)
c.6812C= (p.Ser2271=)
c.6716C= (p.Ser2239=)
c.6686C= (p.Ser2229=)
c.6611C= (p.Ser2204=)
c.6509C= (p.Ser2170=)
c.6140C= (p.Ser2047=)
5g.112842583C>GCA16036568APCc.7043C>G (p.Ser2348Cys)
c.*6995C>G (n.*6995C>G)
c.6935C>G (p.Ser2312Cys)
c.6989C>G (p.Ser2330Cys)
c.*6311C>G (n.*6311C>G)
c.230+13611C>G
c.7019C>G (p.Ser2340Cys)
c.6914C>G (p.Ser2305Cys)
c.6905C>G (p.Ser2302Cys)
c.6866C>G (p.Ser2289Cys)
c.6812C>G (p.Ser2271Cys)
c.6716C>G (p.Ser2239Cys)
c.6686C>G (p.Ser2229Cys)
c.6611C>G (p.Ser2204Cys)
c.6509C>G (p.Ser2170Cys)
c.6140C>G (p.Ser2047Cys)
dbSNP
5g.112842583C>TCA16036569APCc.7043C>T (p.Ser2348Phe)
c.*6995C>T (n.*6995C>T)
c.6935C>T (p.Ser2312Phe)
c.6989C>T (p.Ser2330Phe)
c.*6311C>T (n.*6311C>T)
c.230+13611C>T
c.7019C>T (p.Ser2340Phe)
c.6914C>T (p.Ser2305Phe)
c.6905C>T (p.Ser2302Phe)
c.6866C>T (p.Ser2289Phe)
c.6812C>T (p.Ser2271Phe)
c.6716C>T (p.Ser2239Phe)
c.6686C>T (p.Ser2229Phe)
c.6611C>T (p.Ser2204Phe)
c.6509C>T (p.Ser2170Phe)
c.6140C>T (p.Ser2047Phe)
ClinVar dbSNP
5g.112842586dupCA2710010982APCc.7046dup (p.Gly2350TrpfsTer2)
c.*6998dup (n.*6998dup)
c.6938dup (p.Gly2314TrpfsTer2)
c.6992dup (p.Gly2332TrpfsTer2)
c.*6314dup (n.*6314dup)
c.230+13614dup
c.7022dup (p.Gly2342TrpfsTer2)
c.6917dup (p.Gly2307TrpfsTer2)
c.6908dup (p.Gly2304TrpfsTer2)
c.6869dup (p.Gly2291TrpfsTer2)
c.6815dup (p.Gly2273TrpfsTer2)
c.6719dup (p.Gly2241TrpfsTer2)
c.6689dup (p.Gly2231TrpfsTer2)
c.6614dup (p.Gly2206TrpfsTer2)
c.6512dup (p.Gly2172TrpfsTer2)
c.6143dup (p.Gly2049TrpfsTer2)
dbSNP
5g.112842584C>ACA446210654APCc.7044C>A (p.Ser2348=)
c.*6996C>A (n.*6996C>A)
c.6936C>A (p.Ser2312=)
c.6990C>A (p.Ser2330=)
c.*6312C>A (n.*6312C>A)
c.230+13612C>A
c.7020C>A (p.Ser2340=)
c.6915C>A (p.Ser2305=)
c.6906C>A (p.Ser2302=)
c.6867C>A (p.Ser2289=)
c.6813C>A (p.Ser2271=)
c.6717C>A (p.Ser2239=)
c.6687C>A (p.Ser2229=)
c.6612C>A (p.Ser2204=)
c.6510C>A (p.Ser2170=)
c.6141C>A (p.Ser2047=)
dbSNP
5g.112842584C>GCA446210655APCc.7044C>G (p.Ser2348=)
c.*6996C>G (n.*6996C>G)
c.6936C>G (p.Ser2312=)
c.6990C>G (p.Ser2330=)
c.*6312C>G (n.*6312C>G)
c.230+13612C>G
c.7020C>G (p.Ser2340=)
c.6915C>G (p.Ser2305=)
c.6906C>G (p.Ser2302=)
c.6867C>G (p.Ser2289=)
c.6813C>G (p.Ser2271=)
c.6717C>G (p.Ser2239=)
c.6687C>G (p.Ser2229=)
c.6612C>G (p.Ser2204=)
c.6510C>G (p.Ser2170=)
c.6141C>G (p.Ser2047=)
dbSNP gnomAD v4
5g.112842584C>TCA446210657APCc.7044C>T (p.Ser2348=)
c.*6996C>T (n.*6996C>T)
c.6936C>T (p.Ser2312=)
c.6990C>T (p.Ser2330=)
c.*6312C>T (n.*6312C>T)
c.230+13612C>T
c.7020C>T (p.Ser2340=)
c.6915C>T (p.Ser2305=)
c.6906C>T (p.Ser2302=)
c.6867C>T (p.Ser2289=)
c.6813C>T (p.Ser2271=)
c.6717C>T (p.Ser2239=)
c.6687C>T (p.Ser2229=)
c.6612C>T (p.Ser2204=)
c.6510C>T (p.Ser2170=)
c.6141C>T (p.Ser2047=)
ClinVar dbSNP
5g.112842585C>ACA16036570APCc.7045C>A (p.Pro2349Thr)
c.*6997C>A (n.*6997C>A)
c.6937C>A (p.Pro2313Thr)
c.6991C>A (p.Pro2331Thr)
c.*6313C>A (n.*6313C>A)
c.230+13613C>A
c.7021C>A (p.Pro2341Thr)
c.6916C>A (p.Pro2306Thr)
c.6907C>A (p.Pro2303Thr)
c.6868C>A (p.Pro2290Thr)
c.6814C>A (p.Pro2272Thr)
c.6718C>A (p.Pro2240Thr)
c.6688C>A (p.Pro2230Thr)
c.6613C>A (p.Pro2205Thr)
c.6511C>A (p.Pro2171Thr)
c.6142C>A (p.Pro2048Thr)
dbSNP
5g.112842585C=CA1573465797APCc.7045C= (p.Pro2349=)
c.*6997C= (n.*6997C=)
c.6937C= (p.Pro2313=)
c.6991C= (p.Pro2331=)
c.*6313C= (n.*6313C=)
c.230+13613C=
c.7021C= (p.Pro2341=)
c.6916C= (p.Pro2306=)
c.6907C= (p.Pro2303=)
c.6868C= (p.Pro2290=)
c.6814C= (p.Pro2272=)
c.6718C= (p.Pro2240=)
c.6688C= (p.Pro2230=)
c.6613C= (p.Pro2205=)
c.6511C= (p.Pro2171=)
c.6142C= (p.Pro2048=)
5g.112842585C>GCA16036571APCc.7045C>G (p.Pro2349Ala)
c.*6997C>G (n.*6997C>G)
c.6937C>G (p.Pro2313Ala)
c.6991C>G (p.Pro2331Ala)
c.*6313C>G (n.*6313C>G)
c.230+13613C>G
c.7021C>G (p.Pro2341Ala)
c.6916C>G (p.Pro2306Ala)
c.6907C>G (p.Pro2303Ala)
c.6868C>G (p.Pro2290Ala)
c.6814C>G (p.Pro2272Ala)
c.6718C>G (p.Pro2240Ala)
c.6688C>G (p.Pro2230Ala)
c.6613C>G (p.Pro2205Ala)
c.6511C>G (p.Pro2171Ala)
c.6142C>G (p.Pro2048Ala)
ClinVar dbSNP
5g.112842585C>TCA16036572APCc.7045C>T (p.Pro2349Ser)
c.*6997C>T (n.*6997C>T)
c.6937C>T (p.Pro2313Ser)
c.6991C>T (p.Pro2331Ser)
c.*6313C>T (n.*6313C>T)
c.230+13613C>T
c.7021C>T (p.Pro2341Ser)
c.6916C>T (p.Pro2306Ser)
c.6907C>T (p.Pro2303Ser)
c.6868C>T (p.Pro2290Ser)
c.6814C>T (p.Pro2272Ser)
c.6718C>T (p.Pro2240Ser)
c.6688C>T (p.Pro2230Ser)
c.6613C>T (p.Pro2205Ser)
c.6511C>T (p.Pro2171Ser)
c.6142C>T (p.Pro2048Ser)
dbSNP
5g.112842586C>ACA16036573APCc.7046C>A (p.Pro2349His)
c.*6998C>A (n.*6998C>A)
c.6938C>A (p.Pro2313His)
c.6992C>A (p.Pro2331His)
c.*6314C>A (n.*6314C>A)
c.230+13614C>A
c.7022C>A (p.Pro2341His)
c.6917C>A (p.Pro2306His)
c.6908C>A (p.Pro2303His)
c.6869C>A (p.Pro2290His)
c.6815C>A (p.Pro2272His)
c.6719C>A (p.Pro2240His)
c.6689C>A (p.Pro2230His)
c.6614C>A (p.Pro2205His)
c.6512C>A (p.Pro2171His)
c.6143C>A (p.Pro2048His)
dbSNP
5g.112842586C>GCA16036574APCc.7046C>G (p.Pro2349Arg)
c.*6998C>G (n.*6998C>G)
c.6938C>G (p.Pro2313Arg)
c.6992C>G (p.Pro2331Arg)
c.*6314C>G (n.*6314C>G)
c.230+13614C>G
c.7022C>G (p.Pro2341Arg)
c.6917C>G (p.Pro2306Arg)
c.6908C>G (p.Pro2303Arg)
c.6869C>G (p.Pro2290Arg)
c.6815C>G (p.Pro2272Arg)
c.6719C>G (p.Pro2240Arg)
c.6689C>G (p.Pro2230Arg)
c.6614C>G (p.Pro2205Arg)
c.6512C>G (p.Pro2171Arg)
c.6143C>G (p.Pro2048Arg)
dbSNP
5g.112842586C>TCA16036575APCc.7046C>T (p.Pro2349Leu)
c.*6998C>T (n.*6998C>T)
c.6938C>T (p.Pro2313Leu)
c.6992C>T (p.Pro2331Leu)
c.*6314C>T (n.*6314C>T)
c.230+13614C>T
c.7022C>T (p.Pro2341Leu)
c.6917C>T (p.Pro2306Leu)
c.6908C>T (p.Pro2303Leu)
c.6869C>T (p.Pro2290Leu)
c.6815C>T (p.Pro2272Leu)
c.6719C>T (p.Pro2240Leu)
c.6689C>T (p.Pro2230Leu)
c.6614C>T (p.Pro2205Leu)
c.6512C>T (p.Pro2171Leu)
c.6143C>T (p.Pro2048Leu)
ClinVar dbSNP
5g.112842587T>ACA446210662APCc.7047T>A (p.Pro2349=)
c.*6999T>A (n.*6999T>A)
c.6939T>A (p.Pro2313=)
c.6993T>A (p.Pro2331=)
c.*6315T>A (n.*6315T>A)
c.230+13615T>A
c.7023T>A (p.Pro2341=)
c.6918T>A (p.Pro2306=)
c.6909T>A (p.Pro2303=)
c.6870T>A (p.Pro2290=)
c.6816T>A (p.Pro2272=)
c.6720T>A (p.Pro2240=)
c.6690T>A (p.Pro2230=)
c.6615T>A (p.Pro2205=)
c.6513T>A (p.Pro2171=)
c.6144T>A (p.Pro2048=)
ClinVar dbSNP
5g.112842587T>CCA446210661APCc.7047T>C (p.Pro2349=)
c.*6999T>C (n.*6999T>C)
c.6939T>C (p.Pro2313=)
c.6993T>C (p.Pro2331=)
c.*6315T>C (n.*6315T>C)
c.230+13615T>C
c.7023T>C (p.Pro2341=)
c.6918T>C (p.Pro2306=)
c.6909T>C (p.Pro2303=)
c.6870T>C (p.Pro2290=)
c.6816T>C (p.Pro2272=)
c.6720T>C (p.Pro2240=)
c.6690T>C (p.Pro2230=)
c.6615T>C (p.Pro2205=)
c.6513T>C (p.Pro2171=)
c.6144T>C (p.Pro2048=)
ClinVar dbSNP
5g.112842587T>GCA446210663APCc.7047T>G (p.Pro2349=)
c.*6999T>G (n.*6999T>G)
c.6939T>G (p.Pro2313=)
c.6993T>G (p.Pro2331=)
c.*6315T>G (n.*6315T>G)
c.230+13615T>G
c.7023T>G (p.Pro2341=)
c.6918T>G (p.Pro2306=)
c.6909T>G (p.Pro2303=)
c.6870T>G (p.Pro2290=)
c.6816T>G (p.Pro2272=)
c.6720T>G (p.Pro2240=)
c.6690T>G (p.Pro2230=)
c.6615T>G (p.Pro2205=)
c.6513T>G (p.Pro2171=)
c.6144T>G (p.Pro2048=)
ClinVar gnomAD v4
5g.112842587T=CA1573465826APCc.7047T= (p.Pro2349=)
c.*6999T= (n.*6999T=)
c.6939T= (p.Pro2313=)
c.6993T= (p.Pro2331=)
c.*6315T= (n.*6315T=)
c.230+13615T=
c.7023T= (p.Pro2341=)
c.6918T= (p.Pro2306=)
c.6909T= (p.Pro2303=)
c.6870T= (p.Pro2290=)
c.6816T= (p.Pro2272=)
c.6720T= (p.Pro2240=)
c.6690T= (p.Pro2230=)
c.6615T= (p.Pro2205=)
c.6513T= (p.Pro2171=)
c.6144T= (p.Pro2048=)
5g.112842588G>ACA16036576APCc.7048G>A (p.Gly2350Ser)
c.*7000G>A (n.*7000G>A)
c.6940G>A (p.Gly2314Ser)
c.6994G>A (p.Gly2332Ser)
c.*6316G>A (n.*6316G>A)
c.230+13616G>A
c.7024G>A (p.Gly2342Ser)
c.6919G>A (p.Gly2307Ser)
c.6910G>A (p.Gly2304Ser)
c.6871G>A (p.Gly2291Ser)
c.6817G>A (p.Gly2273Ser)
c.6721G>A (p.Gly2241Ser)
c.6691G>A (p.Gly2231Ser)
c.6616G>A (p.Gly2206Ser)
c.6514G>A (p.Gly2172Ser)
c.6145G>A (p.Gly2049Ser)
ClinVar dbSNP
5g.112842588G>CCA16036577APCc.7048G>C (p.Gly2350Arg)
c.*7000G>C (n.*7000G>C)
c.6940G>C (p.Gly2314Arg)
c.6994G>C (p.Gly2332Arg)
c.*6316G>C (n.*6316G>C)
c.230+13616G>C
c.7024G>C (p.Gly2342Arg)
c.6919G>C (p.Gly2307Arg)
c.6910G>C (p.Gly2304Arg)
c.6871G>C (p.Gly2291Arg)
c.6817G>C (p.Gly2273Arg)
c.6721G>C (p.Gly2241Arg)
c.6691G>C (p.Gly2231Arg)
c.6616G>C (p.Gly2206Arg)
c.6514G>C (p.Gly2172Arg)
c.6145G>C (p.Gly2049Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842588G=CA1573465847APCc.7048G= (p.Gly2350=)
c.*7000G= (n.*7000G=)
c.6940G= (p.Gly2314=)
c.6994G= (p.Gly2332=)
c.*6316G= (n.*6316G=)
c.230+13616G=
c.7024G= (p.Gly2342=)
c.6919G= (p.Gly2307=)
c.6910G= (p.Gly2304=)
c.6871G= (p.Gly2291=)
c.6817G= (p.Gly2273=)
c.6721G= (p.Gly2241=)
c.6691G= (p.Gly2231=)
c.6616G= (p.Gly2206=)
c.6514G= (p.Gly2172=)
c.6145G= (p.Gly2049=)
5g.112842588G>TCA16036578APCc.7048G>T (p.Gly2350Cys)
c.*7000G>T (n.*7000G>T)
c.6940G>T (p.Gly2314Cys)
c.6994G>T (p.Gly2332Cys)
c.*6316G>T (n.*6316G>T)
c.230+13616G>T
c.7024G>T (p.Gly2342Cys)
c.6919G>T (p.Gly2307Cys)
c.6910G>T (p.Gly2304Cys)
c.6871G>T (p.Gly2291Cys)
c.6817G>T (p.Gly2273Cys)
c.6721G>T (p.Gly2241Cys)
c.6691G>T (p.Gly2231Cys)
c.6616G>T (p.Gly2206Cys)
c.6514G>T (p.Gly2172Cys)
c.6145G>T (p.Gly2049Cys)
dbSNP
5g.112842589G>ACA16036579APCc.7049G>A (p.Gly2350Asp)
c.*7001G>A (n.*7001G>A)
c.6941G>A (p.Gly2314Asp)
c.6995G>A (p.Gly2332Asp)
c.*6317G>A (n.*6317G>A)
c.230+13617G>A
c.7025G>A (p.Gly2342Asp)
c.6920G>A (p.Gly2307Asp)
c.6911G>A (p.Gly2304Asp)
c.6872G>A (p.Gly2291Asp)
c.6818G>A (p.Gly2273Asp)
c.6722G>A (p.Gly2241Asp)
c.6692G>A (p.Gly2231Asp)
c.6617G>A (p.Gly2206Asp)
c.6515G>A (p.Gly2172Asp)
c.6146G>A (p.Gly2049Asp)
dbSNP gnomAD v4
5g.112842589G>CCA16036580APCc.7049G>C (p.Gly2350Ala)
c.*7001G>C (n.*7001G>C)
c.6941G>C (p.Gly2314Ala)
c.6995G>C (p.Gly2332Ala)
c.*6317G>C (n.*6317G>C)
c.230+13617G>C
c.7025G>C (p.Gly2342Ala)
c.6920G>C (p.Gly2307Ala)
c.6911G>C (p.Gly2304Ala)
c.6872G>C (p.Gly2291Ala)
c.6818G>C (p.Gly2273Ala)
c.6722G>C (p.Gly2241Ala)
c.6692G>C (p.Gly2231Ala)
c.6617G>C (p.Gly2206Ala)
c.6515G>C (p.Gly2172Ala)
c.6146G>C (p.Gly2049Ala)
dbSNP gnomAD v4
5g.112842589G>TCA16036581APCc.7049G>T (p.Gly2350Val)
c.*7001G>T (n.*7001G>T)
c.6941G>T (p.Gly2314Val)
c.6995G>T (p.Gly2332Val)
c.*6317G>T (n.*6317G>T)
c.230+13617G>T
c.7025G>T (p.Gly2342Val)
c.6920G>T (p.Gly2307Val)
c.6911G>T (p.Gly2304Val)
c.6872G>T (p.Gly2291Val)
c.6818G>T (p.Gly2273Val)
c.6722G>T (p.Gly2241Val)
c.6692G>T (p.Gly2231Val)
c.6617G>T (p.Gly2206Val)
c.6515G>T (p.Gly2172Val)
c.6146G>T (p.Gly2049Val)
ClinVar dbSNP
5g.112842590T>ACA446210669APCc.7050T>A (p.Gly2350=)
c.*7002T>A (n.*7002T>A)
c.6942T>A (p.Gly2314=)
c.6996T>A (p.Gly2332=)
c.*6318T>A (n.*6318T>A)
c.230+13618T>A
c.7026T>A (p.Gly2342=)
c.6921T>A (p.Gly2307=)
c.6912T>A (p.Gly2304=)
c.6873T>A (p.Gly2291=)
c.6819T>A (p.Gly2273=)
c.6723T>A (p.Gly2241=)
c.6693T>A (p.Gly2231=)
c.6618T>A (p.Gly2206=)
c.6516T>A (p.Gly2172=)
c.6147T>A (p.Gly2049=)
dbSNP
5g.112842590T>CCA446210670APCc.7050T>C (p.Gly2350=)
c.*7002T>C (n.*7002T>C)
c.6942T>C (p.Gly2314=)
c.6996T>C (p.Gly2332=)
c.*6318T>C (n.*6318T>C)
c.230+13618T>C
c.7026T>C (p.Gly2342=)
c.6921T>C (p.Gly2307=)
c.6912T>C (p.Gly2304=)
c.6873T>C (p.Gly2291=)
c.6819T>C (p.Gly2273=)
c.6723T>C (p.Gly2241=)
c.6693T>C (p.Gly2231=)
c.6618T>C (p.Gly2206=)
c.6516T>C (p.Gly2172=)
c.6147T>C (p.Gly2049=)
dbSNP
5g.112842590T>GCA446210671APCc.7050T>G (p.Gly2350=)
c.*7002T>G (n.*7002T>G)
c.6942T>G (p.Gly2314=)
c.6996T>G (p.Gly2332=)
c.*6318T>G (n.*6318T>G)
c.230+13618T>G
c.7026T>G (p.Gly2342=)
c.6921T>G (p.Gly2307=)
c.6912T>G (p.Gly2304=)
c.6873T>G (p.Gly2291=)
c.6819T>G (p.Gly2273=)
c.6723T>G (p.Gly2241=)
c.6693T>G (p.Gly2231=)
c.6618T>G (p.Gly2206=)
c.6516T>G (p.Gly2172=)
c.6147T>G (p.Gly2049=)
dbSNP
5g.112842591A>CCA446210673APCc.7051A>C (p.Arg2351=)
c.*7003A>C (n.*7003A>C)
c.6943A>C (p.Arg2315=)
c.6997A>C (p.Arg2333=)
c.*6319A>C (n.*6319A>C)
c.230+13619A>C
c.7027A>C (p.Arg2343=)
c.6922A>C (p.Arg2308=)
c.6913A>C (p.Arg2305=)
c.6874A>C (p.Arg2292=)
c.6820A>C (p.Arg2274=)
c.6724A>C (p.Arg2242=)
c.6694A>C (p.Arg2232=)
c.6619A>C (p.Arg2207=)
c.6517A>C (p.Arg2173=)
c.6148A>C (p.Arg2050=)
5g.112842591A>GCA16036582APCc.7051A>G (p.Arg2351Gly)
c.*7003A>G (n.*7003A>G)
c.6943A>G (p.Arg2315Gly)
c.6997A>G (p.Arg2333Gly)
c.*6319A>G (n.*6319A>G)
c.230+13619A>G
c.7027A>G (p.Arg2343Gly)
c.6922A>G (p.Arg2308Gly)
c.6913A>G (p.Arg2305Gly)
c.6874A>G (p.Arg2292Gly)
c.6820A>G (p.Arg2274Gly)
c.6724A>G (p.Arg2242Gly)
c.6694A>G (p.Arg2232Gly)
c.6619A>G (p.Arg2207Gly)
c.6517A>G (p.Arg2173Gly)
c.6148A>G (p.Arg2050Gly)
5g.112842591A>TCA16036583APCc.7051A>T (p.Arg2351Ter)
c.*7003A>T (n.*7003A>T)
c.6943A>T (p.Arg2315Ter)
c.6997A>T (p.Arg2333Ter)
c.*6319A>T (n.*6319A>T)
c.230+13619A>T
c.7027A>T (p.Arg2343Ter)
c.6922A>T (p.Arg2308Ter)
c.6913A>T (p.Arg2305Ter)
c.6874A>T (p.Arg2292Ter)
c.6820A>T (p.Arg2274Ter)
c.6724A>T (p.Arg2242Ter)
c.6694A>T (p.Arg2232Ter)
c.6619A>T (p.Arg2207Ter)
c.6517A>T (p.Arg2173Ter)
c.6148A>T (p.Arg2050Ter)
dbSNP
5g.112842592G>ACA16036584APCc.7052G>A (p.Arg2351Lys)
c.*7004G>A (n.*7004G>A)
c.6944G>A (p.Arg2315Lys)
c.6998G>A (p.Arg2333Lys)
c.*6320G>A (n.*6320G>A)
c.230+13620G>A
c.7028G>A (p.Arg2343Lys)
c.6923G>A (p.Arg2308Lys)
c.6914G>A (p.Arg2305Lys)
c.6875G>A (p.Arg2292Lys)
c.6821G>A (p.Arg2274Lys)
c.6725G>A (p.Arg2242Lys)
c.6695G>A (p.Arg2232Lys)
c.6620G>A (p.Arg2207Lys)
c.6518G>A (p.Arg2173Lys)
c.6149G>A (p.Arg2050Lys)
dbSNP
5g.112842592G>CCA16036585APCc.7052G>C (p.Arg2351Thr)
c.*7004G>C (n.*7004G>C)
c.6944G>C (p.Arg2315Thr)
c.6998G>C (p.Arg2333Thr)
c.*6320G>C (n.*6320G>C)
c.230+13620G>C
c.7028G>C (p.Arg2343Thr)
c.6923G>C (p.Arg2308Thr)
c.6914G>C (p.Arg2305Thr)
c.6875G>C (p.Arg2292Thr)
c.6821G>C (p.Arg2274Thr)
c.6725G>C (p.Arg2242Thr)
c.6695G>C (p.Arg2232Thr)
c.6620G>C (p.Arg2207Thr)
c.6518G>C (p.Arg2173Thr)
c.6149G>C (p.Arg2050Thr)
COSMIC
5g.112842592G>TCA16036586APCc.7052G>T (p.Arg2351Ile)
c.*7004G>T (n.*7004G>T)
c.6944G>T (p.Arg2315Ile)
c.6998G>T (p.Arg2333Ile)
c.*6320G>T (n.*6320G>T)
c.230+13620G>T
c.7028G>T (p.Arg2343Ile)
c.6923G>T (p.Arg2308Ile)
c.6914G>T (p.Arg2305Ile)
c.6875G>T (p.Arg2292Ile)
c.6821G>T (p.Arg2274Ile)
c.6725G>T (p.Arg2242Ile)
c.6695G>T (p.Arg2232Ile)
c.6620G>T (p.Arg2207Ile)
c.6518G>T (p.Arg2173Ile)
c.6149G>T (p.Arg2050Ile)
5g.112842593A=CA1573465860APCc.7053A= (p.Arg2351=)
c.*7005A= (n.*7005A=)
c.6945A= (p.Arg2315=)
c.6999A= (p.Arg2333=)
c.*6321A= (n.*6321A=)
c.230+13621A=
c.7029A= (p.Arg2343=)
c.6924A= (p.Arg2308=)
c.6915A= (p.Arg2305=)
c.6876A= (p.Arg2292=)
c.6822A= (p.Arg2274=)
c.6726A= (p.Arg2242=)
c.6696A= (p.Arg2232=)
c.6621A= (p.Arg2207=)
c.6519A= (p.Arg2173=)
c.6150A= (p.Arg2050=)
5g.112842593A>CCA16036587APCc.7053A>C (p.Arg2351Ser)
c.*7005A>C (n.*7005A>C)
c.6945A>C (p.Arg2315Ser)
c.6999A>C (p.Arg2333Ser)
c.*6321A>C (n.*6321A>C)
c.230+13621A>C
c.7029A>C (p.Arg2343Ser)
c.6924A>C (p.Arg2308Ser)
c.6915A>C (p.Arg2305Ser)
c.6876A>C (p.Arg2292Ser)
c.6822A>C (p.Arg2274Ser)
c.6726A>C (p.Arg2242Ser)
c.6696A>C (p.Arg2232Ser)
c.6621A>C (p.Arg2207Ser)
c.6519A>C (p.Arg2173Ser)
c.6150A>C (p.Arg2050Ser)
5g.112842593A>GCA446210677APCc.7053A>G (p.Arg2351=)
c.*7005A>G (n.*7005A>G)
c.6945A>G (p.Arg2315=)
c.6999A>G (p.Arg2333=)
c.*6321A>G (n.*6321A>G)
c.230+13621A>G
c.7029A>G (p.Arg2343=)
c.6924A>G (p.Arg2308=)
c.6915A>G (p.Arg2305=)
c.6876A>G (p.Arg2292=)
c.6822A>G (p.Arg2274=)
c.6726A>G (p.Arg2242=)
c.6696A>G (p.Arg2232=)
c.6621A>G (p.Arg2207=)
c.6519A>G (p.Arg2173=)
c.6150A>G (p.Arg2050=)
dbSNP
5g.112842593A>TCA16036588APCc.7053A>T (p.Arg2351Ser)
c.*7005A>T (n.*7005A>T)
c.6945A>T (p.Arg2315Ser)
c.6999A>T (p.Arg2333Ser)
c.*6321A>T (n.*6321A>T)
c.230+13621A>T
c.7029A>T (p.Arg2343Ser)
c.6924A>T (p.Arg2308Ser)
c.6915A>T (p.Arg2305Ser)
c.6876A>T (p.Arg2292Ser)
c.6822A>T (p.Arg2274Ser)
c.6726A>T (p.Arg2242Ser)
c.6696A>T (p.Arg2232Ser)
c.6621A>T (p.Arg2207Ser)
c.6519A>T (p.Arg2173Ser)
c.6150A>T (p.Arg2050Ser)
ClinVar dbSNP
5g.112842594A>CCA16036589APCc.7054A>C (p.Asn2352His)
c.*7006A>C (n.*7006A>C)
c.6946A>C (p.Asn2316His)
c.7000A>C (p.Asn2334His)
c.*6322A>C (n.*6322A>C)
c.230+13622A>C
c.7030A>C (p.Asn2344His)
c.6925A>C (p.Asn2309His)
c.6916A>C (p.Asn2306His)
c.6877A>C (p.Asn2293His)
c.6823A>C (p.Asn2275His)
c.6727A>C (p.Asn2243His)
c.6697A>C (p.Asn2233His)
c.6622A>C (p.Asn2208His)
c.6520A>C (p.Asn2174His)
c.6151A>C (p.Asn2051His)
5g.112842594A>GCA16036590APCc.7054A>G (p.Asn2352Asp)
c.*7006A>G (n.*7006A>G)
c.6946A>G (p.Asn2316Asp)
c.7000A>G (p.Asn2334Asp)
c.*6322A>G (n.*6322A>G)
c.230+13622A>G
c.7030A>G (p.Asn2344Asp)
c.6925A>G (p.Asn2309Asp)
c.6916A>G (p.Asn2306Asp)
c.6877A>G (p.Asn2293Asp)
c.6823A>G (p.Asn2275Asp)
c.6727A>G (p.Asn2243Asp)
c.6697A>G (p.Asn2233Asp)
c.6622A>G (p.Asn2208Asp)
c.6520A>G (p.Asn2174Asp)
c.6151A>G (p.Asn2051Asp)
dbSNP
5g.112842594A>TCA16036591APCc.7054A>T (p.Asn2352Tyr)
c.*7006A>T (n.*7006A>T)
c.6946A>T (p.Asn2316Tyr)
c.7000A>T (p.Asn2334Tyr)
c.*6322A>T (n.*6322A>T)
c.230+13622A>T
c.7030A>T (p.Asn2344Tyr)
c.6925A>T (p.Asn2309Tyr)
c.6916A>T (p.Asn2306Tyr)
c.6877A>T (p.Asn2293Tyr)
c.6823A>T (p.Asn2275Tyr)
c.6727A>T (p.Asn2243Tyr)
c.6697A>T (p.Asn2233Tyr)
c.6622A>T (p.Asn2208Tyr)
c.6520A>T (p.Asn2174Tyr)
c.6151A>T (p.Asn2051Tyr)
dbSNP
5g.112842595A=CA1573465878APCc.7055A= (p.Asn2352=)
c.*7007A= (n.*7007A=)
c.6947A= (p.Asn2316=)
c.7001A= (p.Asn2334=)
c.*6323A= (n.*6323A=)
c.230+13623A=
c.7031A= (p.Asn2344=)
c.6926A= (p.Asn2309=)
c.6917A= (p.Asn2306=)
c.6878A= (p.Asn2293=)
c.6824A= (p.Asn2275=)
c.6728A= (p.Asn2243=)
c.6698A= (p.Asn2233=)
c.6623A= (p.Asn2208=)
c.6521A= (p.Asn2174=)
c.6152A= (p.Asn2051=)
5g.112842595A>CCA16036592APCc.7055A>C (p.Asn2352Thr)
c.*7007A>C (n.*7007A>C)
c.6947A>C (p.Asn2316Thr)
c.7001A>C (p.Asn2334Thr)
c.*6323A>C (n.*6323A>C)
c.230+13623A>C
c.7031A>C (p.Asn2344Thr)
c.6926A>C (p.Asn2309Thr)
c.6917A>C (p.Asn2306Thr)
c.6878A>C (p.Asn2293Thr)
c.6824A>C (p.Asn2275Thr)
c.6728A>C (p.Asn2243Thr)
c.6698A>C (p.Asn2233Thr)
c.6623A>C (p.Asn2208Thr)
c.6521A>C (p.Asn2174Thr)
c.6152A>C (p.Asn2051Thr)
dbSNP
5g.112842595A>GCA16036593APCc.7055A>G (p.Asn2352Ser)
c.*7007A>G (n.*7007A>G)
c.6947A>G (p.Asn2316Ser)
c.7001A>G (p.Asn2334Ser)
c.*6323A>G (n.*6323A>G)
c.230+13623A>G
c.7031A>G (p.Asn2344Ser)
c.6926A>G (p.Asn2309Ser)
c.6917A>G (p.Asn2306Ser)
c.6878A>G (p.Asn2293Ser)
c.6824A>G (p.Asn2275Ser)
c.6728A>G (p.Asn2243Ser)
c.6698A>G (p.Asn2233Ser)
c.6623A>G (p.Asn2208Ser)
c.6521A>G (p.Asn2174Ser)
c.6152A>G (p.Asn2051Ser)
ClinVar dbSNP gnomAD v4
5g.112842595A>TCA16036594APCc.7055A>T (p.Asn2352Ile)
c.*7007A>T (n.*7007A>T)
c.6947A>T (p.Asn2316Ile)
c.7001A>T (p.Asn2334Ile)
c.*6323A>T (n.*6323A>T)
c.230+13623A>T
c.7031A>T (p.Asn2344Ile)
c.6926A>T (p.Asn2309Ile)
c.6917A>T (p.Asn2306Ile)
c.6878A>T (p.Asn2293Ile)
c.6824A>T (p.Asn2275Ile)
c.6728A>T (p.Asn2243Ile)
c.6698A>T (p.Asn2233Ile)
c.6623A>T (p.Asn2208Ile)
c.6521A>T (p.Asn2174Ile)
c.6152A>T (p.Asn2051Ile)
dbSNP
5g.112842596T>ACA16036595APCc.7056T>A (p.Asn2352Lys)
c.*7008T>A (n.*7008T>A)
c.6948T>A (p.Asn2316Lys)
c.7002T>A (p.Asn2334Lys)
c.*6324T>A (n.*6324T>A)
c.230+13624T>A
c.7032T>A (p.Asn2344Lys)
c.6927T>A (p.Asn2309Lys)
c.6918T>A (p.Asn2306Lys)
c.6879T>A (p.Asn2293Lys)
c.6825T>A (p.Asn2275Lys)
c.6729T>A (p.Asn2243Lys)
c.6699T>A (p.Asn2233Lys)
c.6624T>A (p.Asn2208Lys)
c.6522T>A (p.Asn2174Lys)
c.6153T>A (p.Asn2051Lys)
5g.112842596T>CCA446210682APCc.7056T>C (p.Asn2352=)
c.*7008T>C (n.*7008T>C)
c.6948T>C (p.Asn2316=)
c.7002T>C (p.Asn2334=)
c.*6324T>C (n.*6324T>C)
c.230+13624T>C
c.7032T>C (p.Asn2344=)
c.6927T>C (p.Asn2309=)
c.6918T>C (p.Asn2306=)
c.6879T>C (p.Asn2293=)
c.6825T>C (p.Asn2275=)
c.6729T>C (p.Asn2243=)
c.6699T>C (p.Asn2233=)
c.6624T>C (p.Asn2208=)
c.6522T>C (p.Asn2174=)
c.6153T>C (p.Asn2051=)
5g.112842596T>GCA16036596APCc.7056T>G (p.Asn2352Lys)
c.*7008T>G (n.*7008T>G)
c.6948T>G (p.Asn2316Lys)
c.7002T>G (p.Asn2334Lys)
c.*6324T>G (n.*6324T>G)
c.230+13624T>G
c.7032T>G (p.Asn2344Lys)
c.6927T>G (p.Asn2309Lys)
c.6918T>G (p.Asn2306Lys)
c.6879T>G (p.Asn2293Lys)
c.6825T>G (p.Asn2275Lys)
c.6729T>G (p.Asn2243Lys)
c.6699T>G (p.Asn2233Lys)
c.6624T>G (p.Asn2208Lys)
c.6522T>G (p.Asn2174Lys)
c.6153T>G (p.Asn2051Lys)
ClinVar
5g.112842597G>ACA16036597APCc.7057G>A (p.Gly2353Arg)
c.*7009G>A (n.*7009G>A)
c.6949G>A (p.Gly2317Arg)
c.7003G>A (p.Gly2335Arg)
c.*6325G>A (n.*6325G>A)
c.230+13625G>A
c.7033G>A (p.Gly2345Arg)
c.6928G>A (p.Gly2310Arg)
c.6919G>A (p.Gly2307Arg)
c.6880G>A (p.Gly2294Arg)
c.6826G>A (p.Gly2276Arg)
c.6730G>A (p.Gly2244Arg)
c.6700G>A (p.Gly2234Arg)
c.6625G>A (p.Gly2209Arg)
c.6523G>A (p.Gly2175Arg)
c.6154G>A (p.Gly2052Arg)
dbSNP
5g.112842597G>CCA16036598APCc.7057G>C (p.Gly2353Arg)
c.*7009G>C (n.*7009G>C)
c.6949G>C (p.Gly2317Arg)
c.7003G>C (p.Gly2335Arg)
c.*6325G>C (n.*6325G>C)
c.230+13625G>C
c.7033G>C (p.Gly2345Arg)
c.6928G>C (p.Gly2310Arg)
c.6919G>C (p.Gly2307Arg)
c.6880G>C (p.Gly2294Arg)
c.6826G>C (p.Gly2276Arg)
c.6730G>C (p.Gly2244Arg)
c.6700G>C (p.Gly2234Arg)
c.6625G>C (p.Gly2209Arg)
c.6523G>C (p.Gly2175Arg)
c.6154G>C (p.Gly2052Arg)
5g.112842597G>TCA16036599APCc.7057G>T (p.Gly2353Ter)
c.*7009G>T (n.*7009G>T)
c.6949G>T (p.Gly2317Ter)
c.7003G>T (p.Gly2335Ter)
c.*6325G>T (n.*6325G>T)
c.230+13625G>T
c.7033G>T (p.Gly2345Ter)
c.6928G>T (p.Gly2310Ter)
c.6919G>T (p.Gly2307Ter)
c.6880G>T (p.Gly2294Ter)
c.6826G>T (p.Gly2276Ter)
c.6730G>T (p.Gly2244Ter)
c.6700G>T (p.Gly2234Ter)
c.6625G>T (p.Gly2209Ter)
c.6523G>T (p.Gly2175Ter)
c.6154G>T (p.Gly2052Ter)
5g.112842598G>ACA046606APCc.7058G>A (p.Gly2353Glu)
c.*7010G>A (n.*7010G>A)
c.6950G>A (p.Gly2317Glu)
c.7004G>A (p.Gly2335Glu)
c.*6326G>A (n.*6326G>A)
c.230+13626G>A
c.7034G>A (p.Gly2345Glu)
c.6929G>A (p.Gly2310Glu)
c.6920G>A (p.Gly2307Glu)
c.6881G>A (p.Gly2294Glu)
c.6827G>A (p.Gly2276Glu)
c.6731G>A (p.Gly2244Glu)
c.6701G>A (p.Gly2234Glu)
c.6626G>A (p.Gly2209Glu)
c.6524G>A (p.Gly2175Glu)
c.6155G>A (p.Gly2052Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842598G>CCA16036600APCc.7058G>C (p.Gly2353Ala)
c.*7010G>C (n.*7010G>C)
c.6950G>C (p.Gly2317Ala)
c.7004G>C (p.Gly2335Ala)
c.*6326G>C (n.*6326G>C)
c.230+13626G>C
c.7034G>C (p.Gly2345Ala)
c.6929G>C (p.Gly2310Ala)
c.6920G>C (p.Gly2307Ala)
c.6881G>C (p.Gly2294Ala)
c.6827G>C (p.Gly2276Ala)
c.6731G>C (p.Gly2244Ala)
c.6701G>C (p.Gly2234Ala)
c.6626G>C (p.Gly2209Ala)
c.6524G>C (p.Gly2175Ala)
c.6155G>C (p.Gly2052Ala)
gnomAD v4
5g.112842598G=CA1573465887APCc.7058G= (p.Gly2353=)
c.*7010G= (n.*7010G=)
c.6950G= (p.Gly2317=)
c.7004G= (p.Gly2335=)
c.*6326G= (n.*6326G=)
c.230+13626G=
c.7034G= (p.Gly2345=)
c.6929G= (p.Gly2310=)
c.6920G= (p.Gly2307=)
c.6881G= (p.Gly2294=)
c.6827G= (p.Gly2276=)
c.6731G= (p.Gly2244=)
c.6701G= (p.Gly2234=)
c.6626G= (p.Gly2209=)
c.6524G= (p.Gly2175=)
c.6155G= (p.Gly2052=)
5g.112842598G>TCA16036601APCc.7058G>T (p.Gly2353Val)
c.*7010G>T (n.*7010G>T)
c.6950G>T (p.Gly2317Val)
c.7004G>T (p.Gly2335Val)
c.*6326G>T (n.*6326G>T)
c.230+13626G>T
c.7034G>T (p.Gly2345Val)
c.6929G>T (p.Gly2310Val)
c.6920G>T (p.Gly2307Val)
c.6881G>T (p.Gly2294Val)
c.6827G>T (p.Gly2276Val)
c.6731G>T (p.Gly2244Val)
c.6701G>T (p.Gly2234Val)
c.6626G>T (p.Gly2209Val)
c.6524G>T (p.Gly2175Val)
c.6155G>T (p.Gly2052Val)
dbSNP
5g.112842599A>CCA446210686APCc.7059A>C (p.Gly2353=)
c.*7011A>C (n.*7011A>C)
c.6951A>C (p.Gly2317=)
c.7005A>C (p.Gly2335=)
c.*6327A>C (n.*6327A>C)
c.230+13627A>C
c.7035A>C (p.Gly2345=)
c.6930A>C (p.Gly2310=)
c.6921A>C (p.Gly2307=)
c.6882A>C (p.Gly2294=)
c.6828A>C (p.Gly2276=)
c.6732A>C (p.Gly2244=)
c.6702A>C (p.Gly2234=)
c.6627A>C (p.Gly2209=)
c.6525A>C (p.Gly2175=)
c.6156A>C (p.Gly2052=)
5g.112842599A>GCA446210687APCc.7059A>G (p.Gly2353=)
c.*7011A>G (n.*7011A>G)
c.6951A>G (p.Gly2317=)
c.7005A>G (p.Gly2335=)
c.*6327A>G (n.*6327A>G)
c.230+13627A>G
c.7035A>G (p.Gly2345=)
c.6930A>G (p.Gly2310=)
c.6921A>G (p.Gly2307=)
c.6882A>G (p.Gly2294=)
c.6828A>G (p.Gly2276=)
c.6732A>G (p.Gly2244=)
c.6702A>G (p.Gly2234=)
c.6627A>G (p.Gly2209=)
c.6525A>G (p.Gly2175=)
c.6156A>G (p.Gly2052=)
dbSNP
5g.112842599A>TCA446210690APCc.7059A>T (p.Gly2353=)
c.*7011A>T (n.*7011A>T)
c.6951A>T (p.Gly2317=)
c.7005A>T (p.Gly2335=)
c.*6327A>T (n.*6327A>T)
c.230+13627A>T
c.7035A>T (p.Gly2345=)
c.6930A>T (p.Gly2310=)
c.6921A>T (p.Gly2307=)
c.6882A>T (p.Gly2294=)
c.6828A>T (p.Gly2276=)
c.6732A>T (p.Gly2244=)
c.6702A>T (p.Gly2234=)
c.6627A>T (p.Gly2209=)
c.6525A>T (p.Gly2175=)
c.6156A>T (p.Gly2052=)
dbSNP
5g.112842600A=CA1573465899APCc.7060A= (p.Ile2354=)
c.*7012A= (n.*7012A=)
c.6952A= (p.Ile2318=)
c.7006A= (p.Ile2336=)
c.*6328A= (n.*6328A=)
c.230+13628A=
c.7036A= (p.Ile2346=)
c.6931A= (p.Ile2311=)
c.6922A= (p.Ile2308=)
c.6883A= (p.Ile2295=)
c.6829A= (p.Ile2277=)
c.6733A= (p.Ile2245=)
c.6703A= (p.Ile2235=)
c.6628A= (p.Ile2210=)
c.6526A= (p.Ile2176=)
c.6157A= (p.Ile2053=)
5g.112842600A>CCA16036602APCc.7060A>C (p.Ile2354Leu)
c.*7012A>C (n.*7012A>C)
c.6952A>C (p.Ile2318Leu)
c.7006A>C (p.Ile2336Leu)
c.*6328A>C (n.*6328A>C)
c.230+13628A>C
c.7036A>C (p.Ile2346Leu)
c.6931A>C (p.Ile2311Leu)
c.6922A>C (p.Ile2308Leu)
c.6883A>C (p.Ile2295Leu)
c.6829A>C (p.Ile2277Leu)
c.6733A>C (p.Ile2245Leu)
c.6703A>C (p.Ile2235Leu)
c.6628A>C (p.Ile2210Leu)
c.6526A>C (p.Ile2176Leu)
c.6157A>C (p.Ile2053Leu)
dbSNP
5g.112842600A>GCA16036603APCc.7060A>G (p.Ile2354Val)
c.*7012A>G (n.*7012A>G)
c.6952A>G (p.Ile2318Val)
c.7006A>G (p.Ile2336Val)
c.*6328A>G (n.*6328A>G)
c.230+13628A>G
c.7036A>G (p.Ile2346Val)
c.6931A>G (p.Ile2311Val)
c.6922A>G (p.Ile2308Val)
c.6883A>G (p.Ile2295Val)
c.6829A>G (p.Ile2277Val)
c.6733A>G (p.Ile2245Val)
c.6703A>G (p.Ile2235Val)
c.6628A>G (p.Ile2210Val)
c.6526A>G (p.Ile2176Val)
c.6157A>G (p.Ile2053Val)
ClinVar dbSNP gnomAD v4
5g.112842600A>TCA16036604APCc.7060A>T (p.Ile2354Leu)
c.*7012A>T (n.*7012A>T)
c.6952A>T (p.Ile2318Leu)
c.7006A>T (p.Ile2336Leu)
c.*6328A>T (n.*6328A>T)
c.230+13628A>T
c.7036A>T (p.Ile2346Leu)
c.6931A>T (p.Ile2311Leu)
c.6922A>T (p.Ile2308Leu)
c.6883A>T (p.Ile2295Leu)
c.6829A>T (p.Ile2277Leu)
c.6733A>T (p.Ile2245Leu)
c.6703A>T (p.Ile2235Leu)
c.6628A>T (p.Ile2210Leu)
c.6526A>T (p.Ile2176Leu)
c.6157A>T (p.Ile2053Leu)
dbSNP
5g.112842600_112842661delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAACCA1573465904APCc.7060_7121delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2354=)
c.*7012_*7073delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (n.*7012_*7073delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC)
c.6952_7013delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2318=)
c.7006_7067delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2336=)
c.*6328_*6389delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (n.*6328_*6389delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC)
c.230+13628_230+13689delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC
c.7036_7097delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2346=)
c.6931_6992delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2311=)
c.6922_6983delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2308=)
c.6883_6944delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2295=)
c.6829_6890delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2277=)
c.6733_6794delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2245=)
c.6703_6764delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2235=)
c.6628_6689delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2210=)
c.6526_6587delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2176=)
c.6157_6218delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2053=)
5g.112842601T>ACA16036605APCc.7061T>A (p.Ile2354Lys)
c.*7013T>A (n.*7013T>A)
c.6953T>A (p.Ile2318Lys)
c.7007T>A (p.Ile2336Lys)
c.*6329T>A (n.*6329T>A)
c.230+13629T>A
c.7037T>A (p.Ile2346Lys)
c.6932T>A (p.Ile2311Lys)
c.6923T>A (p.Ile2308Lys)
c.6884T>A (p.Ile2295Lys)
c.6830T>A (p.Ile2277Lys)
c.6734T>A (p.Ile2245Lys)
c.6704T>A (p.Ile2235Lys)
c.6629T>A (p.Ile2210Lys)
c.6527T>A (p.Ile2176Lys)
c.6158T>A (p.Ile2053Lys)
5g.112842601T>CCA16036606APCc.7061T>C (p.Ile2354Thr)
c.*7013T>C (n.*7013T>C)
c.6953T>C (p.Ile2318Thr)
c.7007T>C (p.Ile2336Thr)
c.*6329T>C (n.*6329T>C)
c.230+13629T>C
c.7037T>C (p.Ile2346Thr)
c.6932T>C (p.Ile2311Thr)
c.6923T>C (p.Ile2308Thr)
c.6884T>C (p.Ile2295Thr)
c.6830T>C (p.Ile2277Thr)
c.6734T>C (p.Ile2245Thr)
c.6704T>C (p.Ile2235Thr)
c.6629T>C (p.Ile2210Thr)
c.6527T>C (p.Ile2176Thr)
c.6158T>C (p.Ile2053Thr)
dbSNP
5g.112842601T>GCA16036607APCc.7061T>G (p.Ile2354Arg)
c.*7013T>G (n.*7013T>G)
c.6953T>G (p.Ile2318Arg)
c.7007T>G (p.Ile2336Arg)
c.*6329T>G (n.*6329T>G)
c.230+13629T>G
c.7037T>G (p.Ile2346Arg)
c.6932T>G (p.Ile2311Arg)
c.6923T>G (p.Ile2308Arg)
c.6884T>G (p.Ile2295Arg)
c.6830T>G (p.Ile2277Arg)
c.6734T>G (p.Ile2245Arg)
c.6704T>G (p.Ile2235Arg)
c.6629T>G (p.Ile2210Arg)
c.6527T>G (p.Ile2176Arg)
c.6158T>G (p.Ile2053Arg)
ClinVar
5g.112842610_112842670delCA046621APCc.7070_7130del (p.Pro2357GlnfsTer15)
c.*7022_*7082del (n.*7022_*7082del)
c.6962_7022del (p.Pro2321GlnfsTer15)
c.7016_7076del (p.Pro2339GlnfsTer15)
c.*6338_*6398del (n.*6338_*6398del)
c.230+13638_230+13698del
c.7046_7106del (p.Pro2349GlnfsTer15)
c.6941_7001del (p.Pro2314GlnfsTer15)
c.6932_6992del (p.Pro2311GlnfsTer15)
c.6893_6953del (p.Pro2298GlnfsTer15)
c.6839_6899del (p.Pro2280GlnfsTer15)
c.6743_6803del (p.Pro2248GlnfsTer15)
c.6713_6773del (p.Pro2238GlnfsTer15)
c.6638_6698del (p.Pro2213GlnfsTer15)
c.6536_6596del (p.Pro2179GlnfsTer15)
c.6167_6227del (p.Pro2056GlnfsTer15)
ClinVar dbSNP ExAC gnomAD v2
5g.112842602A>CCA446210694APCc.7062A>C (p.Ile2354=)
c.*7014A>C (n.*7014A>C)
c.6954A>C (p.Ile2318=)
c.7008A>C (p.Ile2336=)
c.*6330A>C (n.*6330A>C)
c.230+13630A>C
c.7038A>C (p.Ile2346=)
c.6933A>C (p.Ile2311=)
c.6924A>C (p.Ile2308=)
c.6885A>C (p.Ile2295=)
c.6831A>C (p.Ile2277=)
c.6735A>C (p.Ile2245=)
c.6705A>C (p.Ile2235=)
c.6630A>C (p.Ile2210=)
c.6528A>C (p.Ile2176=)
c.6159A>C (p.Ile2053=)
5g.112842602A>GCA16036608APCc.7062A>G (p.Ile2354Met)
c.*7014A>G (n.*7014A>G)
c.6954A>G (p.Ile2318Met)
c.7008A>G (p.Ile2336Met)
c.*6330A>G (n.*6330A>G)
c.230+13630A>G
c.7038A>G (p.Ile2346Met)
c.6933A>G (p.Ile2311Met)
c.6924A>G (p.Ile2308Met)
c.6885A>G (p.Ile2295Met)
c.6831A>G (p.Ile2277Met)
c.6735A>G (p.Ile2245Met)
c.6705A>G (p.Ile2235Met)
c.6630A>G (p.Ile2210Met)
c.6528A>G (p.Ile2176Met)
c.6159A>G (p.Ile2053Met)
dbSNP
5g.112842602A>TCA446210693APCc.7062A>T (p.Ile2354=)
c.*7014A>T (n.*7014A>T)
c.6954A>T (p.Ile2318=)
c.7008A>T (p.Ile2336=)
c.*6330A>T (n.*6330A>T)
c.230+13630A>T
c.7038A>T (p.Ile2346=)
c.6933A>T (p.Ile2311=)
c.6924A>T (p.Ile2308=)
c.6885A>T (p.Ile2295=)
c.6831A>T (p.Ile2277=)
c.6735A>T (p.Ile2245=)
c.6705A>T (p.Ile2235=)
c.6630A>T (p.Ile2210=)
c.6528A>T (p.Ile2176=)
c.6159A>T (p.Ile2053=)
dbSNP
5g.112842603A=CA1573465925APCc.7063A= (p.Ser2355=)
c.*7015A= (n.*7015A=)
c.6955A= (p.Ser2319=)
c.7009A= (p.Ser2337=)
c.*6331A= (n.*6331A=)
c.230+13631A=
c.7039A= (p.Ser2347=)
c.6934A= (p.Ser2312=)
c.6925A= (p.Ser2309=)
c.6886A= (p.Ser2296=)
c.6832A= (p.Ser2278=)
c.6736A= (p.Ser2246=)
c.6706A= (p.Ser2236=)
c.6631A= (p.Ser2211=)
c.6529A= (p.Ser2177=)
c.6160A= (p.Ser2054=)
5g.112842603A>CCA16036609APCc.7063A>C (p.Ser2355Arg)
c.*7015A>C (n.*7015A>C)
c.6955A>C (p.Ser2319Arg)
c.7009A>C (p.Ser2337Arg)
c.*6331A>C (n.*6331A>C)
c.230+13631A>C
c.7039A>C (p.Ser2347Arg)
c.6934A>C (p.Ser2312Arg)
c.6925A>C (p.Ser2309Arg)
c.6886A>C (p.Ser2296Arg)
c.6832A>C (p.Ser2278Arg)
c.6736A>C (p.Ser2246Arg)
c.6706A>C (p.Ser2236Arg)
c.6631A>C (p.Ser2211Arg)
c.6529A>C (p.Ser2177Arg)
c.6160A>C (p.Ser2054Arg)
ClinVar dbSNP gnomAD v4
5g.112842603A>GCA16036610APCc.7063A>G (p.Ser2355Gly)
c.*7015A>G (n.*7015A>G)
c.6955A>G (p.Ser2319Gly)
c.7009A>G (p.Ser2337Gly)
c.*6331A>G (n.*6331A>G)
c.230+13631A>G
c.7039A>G (p.Ser2347Gly)
c.6934A>G (p.Ser2312Gly)
c.6925A>G (p.Ser2309Gly)
c.6886A>G (p.Ser2296Gly)
c.6832A>G (p.Ser2278Gly)
c.6736A>G (p.Ser2246Gly)
c.6706A>G (p.Ser2236Gly)
c.6631A>G (p.Ser2211Gly)
c.6529A>G (p.Ser2177Gly)
c.6160A>G (p.Ser2054Gly)
ClinVar dbSNP
5g.112842603A>TCA16036611APCc.7063A>T (p.Ser2355Cys)
c.*7015A>T (n.*7015A>T)
c.6955A>T (p.Ser2319Cys)
c.7009A>T (p.Ser2337Cys)
c.*6331A>T (n.*6331A>T)
c.230+13631A>T
c.7039A>T (p.Ser2347Cys)
c.6934A>T (p.Ser2312Cys)
c.6925A>T (p.Ser2309Cys)
c.6886A>T (p.Ser2296Cys)
c.6832A>T (p.Ser2278Cys)
c.6736A>T (p.Ser2246Cys)
c.6706A>T (p.Ser2236Cys)
c.6631A>T (p.Ser2211Cys)
c.6529A>T (p.Ser2177Cys)
c.6160A>T (p.Ser2054Cys)
5g.112842604G>ACA16036612APCc.7064G>A (p.Ser2355Asn)
c.*7016G>A (n.*7016G>A)
c.6956G>A (p.Ser2319Asn)
c.7010G>A (p.Ser2337Asn)
c.*6332G>A (n.*6332G>A)
c.230+13632G>A
c.7040G>A (p.Ser2347Asn)
c.6935G>A (p.Ser2312Asn)
c.6926G>A (p.Ser2309Asn)
c.6887G>A (p.Ser2296Asn)
c.6833G>A (p.Ser2278Asn)
c.6737G>A (p.Ser2246Asn)
c.6707G>A (p.Ser2236Asn)
c.6632G>A (p.Ser2211Asn)
c.6530G>A (p.Ser2177Asn)
c.6161G>A (p.Ser2054Asn)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842604G>CCA16036613APCc.7064G>C (p.Ser2355Thr)
c.*7016G>C (n.*7016G>C)
c.6956G>C (p.Ser2319Thr)
c.7010G>C (p.Ser2337Thr)
c.*6332G>C (n.*6332G>C)
c.230+13632G>C
c.7040G>C (p.Ser2347Thr)
c.6935G>C (p.Ser2312Thr)
c.6926G>C (p.Ser2309Thr)
c.6887G>C (p.Ser2296Thr)
c.6833G>C (p.Ser2278Thr)
c.6737G>C (p.Ser2246Thr)
c.6707G>C (p.Ser2236Thr)
c.6632G>C (p.Ser2211Thr)
c.6530G>C (p.Ser2177Thr)
c.6161G>C (p.Ser2054Thr)
dbSNP
5g.112842604G=CA1573465935APCc.7064G= (p.Ser2355=)
c.*7016G= (n.*7016G=)
c.6956G= (p.Ser2319=)
c.7010G= (p.Ser2337=)
c.*6332G= (n.*6332G=)
c.230+13632G=
c.7040G= (p.Ser2347=)
c.6935G= (p.Ser2312=)
c.6926G= (p.Ser2309=)
c.6887G= (p.Ser2296=)
c.6833G= (p.Ser2278=)
c.6737G= (p.Ser2246=)
c.6707G= (p.Ser2236=)
c.6632G= (p.Ser2211=)
c.6530G= (p.Ser2177=)
c.6161G= (p.Ser2054=)
5g.112842604G>TCA16036614APCc.7064G>T (p.Ser2355Ile)
c.*7016G>T (n.*7016G>T)
c.6956G>T (p.Ser2319Ile)
c.7010G>T (p.Ser2337Ile)
c.*6332G>T (n.*6332G>T)
c.230+13632G>T
c.7040G>T (p.Ser2347Ile)
c.6935G>T (p.Ser2312Ile)
c.6926G>T (p.Ser2309Ile)
c.6887G>T (p.Ser2296Ile)
c.6833G>T (p.Ser2278Ile)
c.6737G>T (p.Ser2246Ile)
c.6707G>T (p.Ser2236Ile)
c.6632G>T (p.Ser2211Ile)
c.6530G>T (p.Ser2177Ile)
c.6161G>T (p.Ser2054Ile)
ClinVar dbSNP gnomAD v4
5g.112842604_112842607delinsGTCCCA1573465937APCc.7064_7067delinsGTCC (p.Ser2355=)
c.*7016_*7019delinsGTCC (n.*7016_*7019delinsGTCC)
c.6956_6959delinsGTCC (p.Ser2319=)
c.7010_7013delinsGTCC (p.Ser2337=)
c.*6332_*6335delinsGTCC (n.*6332_*6335delinsGTCC)
c.230+13632_230+13635delinsGTCC
c.7040_7043delinsGTCC (p.Ser2347=)
c.6935_6938delinsGTCC (p.Ser2312=)
c.6926_6929delinsGTCC (p.Ser2309=)
c.6887_6890delinsGTCC (p.Ser2296=)
c.6833_6836delinsGTCC (p.Ser2278=)
c.6737_6740delinsGTCC (p.Ser2246=)
c.6707_6710delinsGTCC (p.Ser2236=)
c.6632_6635delinsGTCC (p.Ser2211=)
c.6530_6533delinsGTCC (p.Ser2177=)
c.6161_6164delinsGTCC (p.Ser2054=)
5g.112842605T>ACA16036615APCc.7065T>A (p.Ser2355Arg)
c.*7017T>A (n.*7017T>A)
c.6957T>A (p.Ser2319Arg)
c.7011T>A (p.Ser2337Arg)
c.*6333T>A (n.*6333T>A)
c.230+13633T>A
c.7041T>A (p.Ser2347Arg)
c.6936T>A (p.Ser2312Arg)
c.6927T>A (p.Ser2309Arg)
c.6888T>A (p.Ser2296Arg)
c.6834T>A (p.Ser2278Arg)
c.6738T>A (p.Ser2246Arg)
c.6708T>A (p.Ser2236Arg)
c.6633T>A (p.Ser2211Arg)
c.6531T>A (p.Ser2177Arg)
c.6162T>A (p.Ser2054Arg)
dbSNP
5g.112842605T>CCA446210700APCc.7065T>C (p.Ser2355=)
c.*7017T>C (n.*7017T>C)
c.6957T>C (p.Ser2319=)
c.7011T>C (p.Ser2337=)
c.*6333T>C (n.*6333T>C)
c.230+13633T>C
c.7041T>C (p.Ser2347=)
c.6936T>C (p.Ser2312=)
c.6927T>C (p.Ser2309=)
c.6888T>C (p.Ser2296=)
c.6834T>C (p.Ser2278=)
c.6738T>C (p.Ser2246=)
c.6708T>C (p.Ser2236=)
c.6633T>C (p.Ser2211=)
c.6531T>C (p.Ser2177=)
c.6162T>C (p.Ser2054=)
ClinVar dbSNP
5g.112842605T>GCA16036616APCc.7065T>G (p.Ser2355Arg)
c.*7017T>G (n.*7017T>G)
c.6957T>G (p.Ser2319Arg)
c.7011T>G (p.Ser2337Arg)
c.*6333T>G (n.*6333T>G)
c.230+13633T>G
c.7041T>G (p.Ser2347Arg)
c.6936T>G (p.Ser2312Arg)
c.6927T>G (p.Ser2309Arg)
c.6888T>G (p.Ser2296Arg)
c.6834T>G (p.Ser2278Arg)
c.6738T>G (p.Ser2246Arg)
c.6708T>G (p.Ser2236Arg)
c.6633T>G (p.Ser2211Arg)
c.6531T>G (p.Ser2177Arg)
c.6162T>G (p.Ser2054Arg)
dbSNP
5g.112842605T=CA1573465978APCc.7065T= (p.Ser2355=)
c.*7017T= (n.*7017T=)
c.6957T= (p.Ser2319=)
c.7011T= (p.Ser2337=)
c.*6333T= (n.*6333T=)
c.230+13633T=
c.7041T= (p.Ser2347=)
c.6936T= (p.Ser2312=)
c.6927T= (p.Ser2309=)
c.6888T= (p.Ser2296=)
c.6834T= (p.Ser2278=)
c.6738T= (p.Ser2246=)
c.6708T= (p.Ser2236=)
c.6633T= (p.Ser2211=)
c.6531T= (p.Ser2177=)
c.6162T= (p.Ser2054=)
5g.112842609_112842611delCA658656002APCc.7069_7071del (p.Pro2357del)
c.*7021_*7023del (n.*7021_*7023del)
c.6961_6963del (p.Pro2321del)
c.7015_7017del (p.Pro2339del)
c.*6337_*6339del (n.*6337_*6339del)
c.230+13637_230+13639del
c.7045_7047del (p.Pro2349del)
c.6940_6942del (p.Pro2314del)
c.6931_6933del (p.Pro2311del)
c.6892_6894del (p.Pro2298del)
c.6838_6840del (p.Pro2280del)
c.6742_6744del (p.Pro2248del)
c.6712_6714del (p.Pro2238del)
c.6637_6639del (p.Pro2213del)
c.6535_6537del (p.Pro2179del)
c.6166_6168del (p.Pro2056del)
ClinVar dbSNP
5g.112842606C>ACA16036617APCc.7066C>A (p.Pro2356Thr)
c.*7018C>A (n.*7018C>A)
c.6958C>A (p.Pro2320Thr)
c.7012C>A (p.Pro2338Thr)
c.*6334C>A (n.*6334C>A)
c.230+13634C>A
c.7042C>A (p.Pro2348Thr)
c.6937C>A (p.Pro2313Thr)
c.6928C>A (p.Pro2310Thr)
c.6889C>A (p.Pro2297Thr)
c.6835C>A (p.Pro2279Thr)
c.6739C>A (p.Pro2247Thr)
c.6709C>A (p.Pro2237Thr)
c.6634C>A (p.Pro2212Thr)
c.6532C>A (p.Pro2178Thr)
c.6163C>A (p.Pro2055Thr)
dbSNP gnomAD v4
5g.112842606C=CA1573466009APCc.7066C= (p.Pro2356=)
c.*7018C= (n.*7018C=)
c.6958C= (p.Pro2320=)
c.7012C= (p.Pro2338=)
c.*6334C= (n.*6334C=)
c.230+13634C=
c.7042C= (p.Pro2348=)
c.6937C= (p.Pro2313=)
c.6928C= (p.Pro2310=)
c.6889C= (p.Pro2297=)
c.6835C= (p.Pro2279=)
c.6739C= (p.Pro2247=)
c.6709C= (p.Pro2237=)
c.6634C= (p.Pro2212=)
c.6532C= (p.Pro2178=)
c.6163C= (p.Pro2055=)
5g.112842606C>GCA16036618APCc.7066C>G (p.Pro2356Ala)
c.*7018C>G (n.*7018C>G)
c.6958C>G (p.Pro2320Ala)
c.7012C>G (p.Pro2338Ala)
c.*6334C>G (n.*6334C>G)
c.230+13634C>G
c.7042C>G (p.Pro2348Ala)
c.6937C>G (p.Pro2313Ala)
c.6928C>G (p.Pro2310Ala)
c.6889C>G (p.Pro2297Ala)
c.6835C>G (p.Pro2279Ala)
c.6739C>G (p.Pro2247Ala)
c.6709C>G (p.Pro2237Ala)
c.6634C>G (p.Pro2212Ala)
c.6532C>G (p.Pro2178Ala)
c.6163C>G (p.Pro2055Ala)
dbSNP
5g.112842606C>TCA046630APCc.7066C>T (p.Pro2356Ser)
c.*7018C>T (n.*7018C>T)
c.6958C>T (p.Pro2320Ser)
c.7012C>T (p.Pro2338Ser)
c.*6334C>T (n.*6334C>T)
c.230+13634C>T
c.7042C>T (p.Pro2348Ser)
c.6937C>T (p.Pro2313Ser)
c.6928C>T (p.Pro2310Ser)
c.6889C>T (p.Pro2297Ser)
c.6835C>T (p.Pro2279Ser)
c.6739C>T (p.Pro2247Ser)
c.6709C>T (p.Pro2237Ser)
c.6634C>T (p.Pro2212Ser)
c.6532C>T (p.Pro2178Ser)
c.6163C>T (p.Pro2055Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842607C>ACA16036619APCc.7067C>A (p.Pro2356His)
c.*7019C>A (n.*7019C>A)
c.6959C>A (p.Pro2320His)
c.7013C>A (p.Pro2338His)
c.*6335C>A (n.*6335C>A)
c.230+13635C>A
c.7043C>A (p.Pro2348His)
c.6938C>A (p.Pro2313His)
c.6929C>A (p.Pro2310His)
c.6890C>A (p.Pro2297His)
c.6836C>A (p.Pro2279His)
c.6740C>A (p.Pro2247His)
c.6710C>A (p.Pro2237His)
c.6635C>A (p.Pro2212His)
c.6533C>A (p.Pro2178His)
c.6164C>A (p.Pro2055His)
dbSNP
5g.112842607C=CA1573466022APCc.7067C= (p.Pro2356=)
c.*7019C= (n.*7019C=)
c.6959C= (p.Pro2320=)
c.7013C= (p.Pro2338=)
c.*6335C= (n.*6335C=)
c.230+13635C=
c.7043C= (p.Pro2348=)
c.6938C= (p.Pro2313=)
c.6929C= (p.Pro2310=)
c.6890C= (p.Pro2297=)
c.6836C= (p.Pro2279=)
c.6740C= (p.Pro2247=)
c.6710C= (p.Pro2237=)
c.6635C= (p.Pro2212=)
c.6533C= (p.Pro2178=)
c.6164C= (p.Pro2055=)
5g.112842607C>GCA16036620APCc.7067C>G (p.Pro2356Arg)
c.*7019C>G (n.*7019C>G)
c.6959C>G (p.Pro2320Arg)
c.7013C>G (p.Pro2338Arg)
c.*6335C>G (n.*6335C>G)
c.230+13635C>G
c.7043C>G (p.Pro2348Arg)
c.6938C>G (p.Pro2313Arg)
c.6929C>G (p.Pro2310Arg)
c.6890C>G (p.Pro2297Arg)
c.6836C>G (p.Pro2279Arg)
c.6740C>G (p.Pro2247Arg)
c.6710C>G (p.Pro2237Arg)
c.6635C>G (p.Pro2212Arg)
c.6533C>G (p.Pro2178Arg)
c.6164C>G (p.Pro2055Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842607C>TCA16036621APCc.7067C>T (p.Pro2356Leu)
c.*7019C>T (n.*7019C>T)
c.6959C>T (p.Pro2320Leu)
c.7013C>T (p.Pro2338Leu)
c.*6335C>T (n.*6335C>T)
c.230+13635C>T
c.7043C>T (p.Pro2348Leu)
c.6938C>T (p.Pro2313Leu)
c.6929C>T (p.Pro2310Leu)
c.6890C>T (p.Pro2297Leu)
c.6836C>T (p.Pro2279Leu)
c.6740C>T (p.Pro2247Leu)
c.6710C>T (p.Pro2237Leu)
c.6635C>T (p.Pro2212Leu)
c.6533C>T (p.Pro2178Leu)
c.6164C>T (p.Pro2055Leu)
ClinVar dbSNP
5g.112842608T>ACA446210711APCc.7068T>A (p.Pro2356=)
c.*7020T>A (n.*7020T>A)
c.6960T>A (p.Pro2320=)
c.7014T>A (p.Pro2338=)
c.*6336T>A (n.*6336T>A)
c.230+13636T>A
c.7044T>A (p.Pro2348=)
c.6939T>A (p.Pro2313=)
c.6930T>A (p.Pro2310=)
c.6891T>A (p.Pro2297=)
c.6837T>A (p.Pro2279=)
c.6741T>A (p.Pro2247=)
c.6711T>A (p.Pro2237=)
c.6636T>A (p.Pro2212=)
c.6534T>A (p.Pro2178=)
c.6165T>A (p.Pro2055=)
ClinVar dbSNP
5g.112842608T>CCA446210712APCc.7068T>C (p.Pro2356=)
c.*7020T>C (n.*7020T>C)
c.6960T>C (p.Pro2320=)
c.7014T>C (p.Pro2338=)
c.*6336T>C (n.*6336T>C)
c.230+13636T>C
c.7044T>C (p.Pro2348=)
c.6939T>C (p.Pro2313=)
c.6930T>C (p.Pro2310=)
c.6891T>C (p.Pro2297=)
c.6837T>C (p.Pro2279=)
c.6741T>C (p.Pro2247=)
c.6711T>C (p.Pro2237=)
c.6636T>C (p.Pro2212=)
c.6534T>C (p.Pro2178=)
c.6165T>C (p.Pro2055=)
ClinVar dbSNP gnomAD v4
5g.112842608T>GCA446210714APCc.7068T>G (p.Pro2356=)
c.*7020T>G (n.*7020T>G)
c.6960T>G (p.Pro2320=)
c.7014T>G (p.Pro2338=)
c.*6336T>G (n.*6336T>G)
c.230+13636T>G
c.7044T>G (p.Pro2348=)
c.6939T>G (p.Pro2313=)
c.6930T>G (p.Pro2310=)
c.6891T>G (p.Pro2297=)
c.6837T>G (p.Pro2279=)
c.6741T>G (p.Pro2247=)
c.6711T>G (p.Pro2237=)
c.6636T>G (p.Pro2212=)
c.6534T>G (p.Pro2178=)
c.6165T>G (p.Pro2055=)
dbSNP
5g.112842608T=CA1573466029APCc.7068T= (p.Pro2356=)
c.*7020T= (n.*7020T=)
c.6960T= (p.Pro2320=)
c.7014T= (p.Pro2338=)
c.*6336T= (n.*6336T=)
c.230+13636T=
c.7044T= (p.Pro2348=)
c.6939T= (p.Pro2313=)
c.6930T= (p.Pro2310=)
c.6891T= (p.Pro2297=)
c.6837T= (p.Pro2279=)
c.6741T= (p.Pro2247=)
c.6711T= (p.Pro2237=)
c.6636T= (p.Pro2212=)
c.6534T= (p.Pro2178=)
c.6165T= (p.Pro2055=)
5g.112842609C>ACA16036622APCc.7069C>A (p.Pro2357Thr)
c.*7021C>A (n.*7021C>A)
c.6961C>A (p.Pro2321Thr)
c.7015C>A (p.Pro2339Thr)
c.*6337C>A (n.*6337C>A)
c.230+13637C>A
c.7045C>A (p.Pro2349Thr)
c.6940C>A (p.Pro2314Thr)
c.6931C>A (p.Pro2311Thr)
c.6892C>A (p.Pro2298Thr)
c.6838C>A (p.Pro2280Thr)
c.6742C>A (p.Pro2248Thr)
c.6712C>A (p.Pro2238Thr)
c.6637C>A (p.Pro2213Thr)
c.6535C>A (p.Pro2179Thr)
c.6166C>A (p.Pro2056Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842609C=CA1573466037APCc.7069C= (p.Pro2357=)
c.*7021C= (n.*7021C=)
c.6961C= (p.Pro2321=)
c.7015C= (p.Pro2339=)
c.*6337C= (n.*6337C=)
c.230+13637C=
c.7045C= (p.Pro2349=)
c.6940C= (p.Pro2314=)
c.6931C= (p.Pro2311=)
c.6892C= (p.Pro2298=)
c.6838C= (p.Pro2280=)
c.6742C= (p.Pro2248=)
c.6712C= (p.Pro2238=)
c.6637C= (p.Pro2213=)
c.6535C= (p.Pro2179=)
c.6166C= (p.Pro2056=)
5g.112842609C>GCA16036623APCc.7069C>G (p.Pro2357Ala)
c.*7021C>G (n.*7021C>G)
c.6961C>G (p.Pro2321Ala)
c.7015C>G (p.Pro2339Ala)
c.*6337C>G (n.*6337C>G)
c.230+13637C>G
c.7045C>G (p.Pro2349Ala)
c.6940C>G (p.Pro2314Ala)
c.6931C>G (p.Pro2311Ala)
c.6892C>G (p.Pro2298Ala)
c.6838C>G (p.Pro2280Ala)
c.6742C>G (p.Pro2248Ala)
c.6712C>G (p.Pro2238Ala)
c.6637C>G (p.Pro2213Ala)
c.6535C>G (p.Pro2179Ala)
c.6166C>G (p.Pro2056Ala)
dbSNP
5g.112842609C>TCA16036624APCc.7069C>T (p.Pro2357Ser)
c.*7021C>T (n.*7021C>T)
c.6961C>T (p.Pro2321Ser)
c.7015C>T (p.Pro2339Ser)
c.*6337C>T (n.*6337C>T)
c.230+13637C>T
c.7045C>T (p.Pro2349Ser)
c.6940C>T (p.Pro2314Ser)
c.6931C>T (p.Pro2311Ser)
c.6892C>T (p.Pro2298Ser)
c.6838C>T (p.Pro2280Ser)
c.6742C>T (p.Pro2248Ser)
c.6712C>T (p.Pro2238Ser)
c.6637C>T (p.Pro2213Ser)
c.6535C>T (p.Pro2179Ser)
c.6166C>T (p.Pro2056Ser)
ClinVar dbSNP
5g.112842610C>ACA16036625APCc.7070C>A (p.Pro2357His)
c.*7022C>A (n.*7022C>A)
c.6962C>A (p.Pro2321His)
c.7016C>A (p.Pro2339His)
c.*6338C>A (n.*6338C>A)
c.230+13638C>A
c.7046C>A (p.Pro2349His)
c.6941C>A (p.Pro2314His)
c.6932C>A (p.Pro2311His)
c.6893C>A (p.Pro2298His)
c.6839C>A (p.Pro2280His)
c.6743C>A (p.Pro2248His)
c.6713C>A (p.Pro2238His)
c.6638C>A (p.Pro2213His)
c.6536C>A (p.Pro2179His)
c.6167C>A (p.Pro2056His)
dbSNP
5g.112842610C=CA1573466039APCc.7070C= (p.Pro2357=)
c.*7022C= (n.*7022C=)
c.6962C= (p.Pro2321=)
c.7016C= (p.Pro2339=)
c.*6338C= (n.*6338C=)
c.230+13638C=
c.7046C= (p.Pro2349=)
c.6941C= (p.Pro2314=)
c.6932C= (p.Pro2311=)
c.6893C= (p.Pro2298=)
c.6839C= (p.Pro2280=)
c.6743C= (p.Pro2248=)
c.6713C= (p.Pro2238=)
c.6638C= (p.Pro2213=)
c.6536C= (p.Pro2179=)
c.6167C= (p.Pro2056=)
5g.112842610C>GCA16036626APCc.7070C>G (p.Pro2357Arg)
c.*7022C>G (n.*7022C>G)
c.6962C>G (p.Pro2321Arg)
c.7016C>G (p.Pro2339Arg)
c.*6338C>G (n.*6338C>G)
c.230+13638C>G
c.7046C>G (p.Pro2349Arg)
c.6941C>G (p.Pro2314Arg)
c.6932C>G (p.Pro2311Arg)
c.6893C>G (p.Pro2298Arg)
c.6839C>G (p.Pro2280Arg)
c.6743C>G (p.Pro2248Arg)
c.6713C>G (p.Pro2238Arg)
c.6638C>G (p.Pro2213Arg)
c.6536C>G (p.Pro2179Arg)
c.6167C>G (p.Pro2056Arg)
ClinVar dbSNP gnomAD v4
5g.112842610C>TCA16036627APCc.7070C>T (p.Pro2357Leu)
c.*7022C>T (n.*7022C>T)
c.6962C>T (p.Pro2321Leu)
c.7016C>T (p.Pro2339Leu)
c.*6338C>T (n.*6338C>T)
c.230+13638C>T
c.7046C>T (p.Pro2349Leu)
c.6941C>T (p.Pro2314Leu)
c.6932C>T (p.Pro2311Leu)
c.6893C>T (p.Pro2298Leu)
c.6839C>T (p.Pro2280Leu)
c.6743C>T (p.Pro2248Leu)
c.6713C>T (p.Pro2238Leu)
c.6638C>T (p.Pro2213Leu)
c.6536C>T (p.Pro2179Leu)
c.6167C>T (p.Pro2056Leu)
dbSNP
5g.112842611T>ACA446210719APCc.7071T>A (p.Pro2357=)
c.*7023T>A (n.*7023T>A)
c.6963T>A (p.Pro2321=)
c.7017T>A (p.Pro2339=)
c.*6339T>A (n.*6339T>A)
c.230+13639T>A
c.7047T>A (p.Pro2349=)
c.6942T>A (p.Pro2314=)
c.6933T>A (p.Pro2311=)
c.6894T>A (p.Pro2298=)
c.6840T>A (p.Pro2280=)
c.6744T>A (p.Pro2248=)
c.6714T>A (p.Pro2238=)
c.6639T>A (p.Pro2213=)
c.6537T>A (p.Pro2179=)
c.6168T>A (p.Pro2056=)
ClinVar
5g.112842611T>CCA046640APCc.7071T>C (p.Pro2357=)
c.*7023T>C (n.*7023T>C)
c.6963T>C (p.Pro2321=)
c.7017T>C (p.Pro2339=)
c.*6339T>C (n.*6339T>C)
c.230+13639T>C
c.7047T>C (p.Pro2349=)
c.6942T>C (p.Pro2314=)
c.6933T>C (p.Pro2311=)
c.6894T>C (p.Pro2298=)
c.6840T>C (p.Pro2280=)
c.6744T>C (p.Pro2248=)
c.6714T>C (p.Pro2238=)
c.6639T>C (p.Pro2213=)
c.6537T>C (p.Pro2179=)
c.6168T>C (p.Pro2056=)
ClinVar dbSNP ExAC gnomAD v2
5g.112842611T>GCA446210720APCc.7071T>G (p.Pro2357=)
c.*7023T>G (n.*7023T>G)
c.6963T>G (p.Pro2321=)
c.7017T>G (p.Pro2339=)
c.*6339T>G (n.*6339T>G)
c.230+13639T>G
c.7047T>G (p.Pro2349=)
c.6942T>G (p.Pro2314=)
c.6933T>G (p.Pro2311=)
c.6894T>G (p.Pro2298=)
c.6840T>G (p.Pro2280=)
c.6744T>G (p.Pro2248=)
c.6714T>G (p.Pro2238=)
c.6639T>G (p.Pro2213=)
c.6537T>G (p.Pro2179=)
c.6168T>G (p.Pro2056=)
5g.112842611T=CA1573466048APCc.7071T= (p.Pro2357=)
c.*7023T= (n.*7023T=)
c.6963T= (p.Pro2321=)
c.7017T= (p.Pro2339=)
c.*6339T= (n.*6339T=)
c.230+13639T=
c.7047T= (p.Pro2349=)
c.6942T= (p.Pro2314=)
c.6933T= (p.Pro2311=)
c.6894T= (p.Pro2298=)
c.6840T= (p.Pro2280=)
c.6744T= (p.Pro2248=)
c.6714T= (p.Pro2238=)
c.6639T= (p.Pro2213=)
c.6537T= (p.Pro2179=)
c.6168T= (p.Pro2056=)
5g.112842612A=CA1573466064APCc.7072A= (p.Asn2358=)
c.*7024A= (n.*7024A=)
c.6964A= (p.Asn2322=)
c.7018A= (p.Asn2340=)
c.*6340A= (n.*6340A=)
c.230+13640A=
c.7048A= (p.Asn2350=)
c.6943A= (p.Asn2315=)
c.6934A= (p.Asn2312=)
c.6895A= (p.Asn2299=)
c.6841A= (p.Asn2281=)
c.6745A= (p.Asn2249=)
c.6715A= (p.Asn2239=)
c.6640A= (p.Asn2214=)
c.6538A= (p.Asn2180=)
c.6169A= (p.Asn2057=)
5g.112842612A>CCA046653APCc.7072A>C (p.Asn2358His)
c.*7024A>C (n.*7024A>C)
c.6964A>C (p.Asn2322His)
c.7018A>C (p.Asn2340His)
c.*6340A>C (n.*6340A>C)
c.230+13640A>C
c.7048A>C (p.Asn2350His)
c.6943A>C (p.Asn2315His)
c.6934A>C (p.Asn2312His)
c.6895A>C (p.Asn2299His)
c.6841A>C (p.Asn2281His)
c.6745A>C (p.Asn2249His)
c.6715A>C (p.Asn2239His)
c.6640A>C (p.Asn2214His)
c.6538A>C (p.Asn2180His)
c.6169A>C (p.Asn2057His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842612A>GCA16036628APCc.7072A>G (p.Asn2358Asp)
c.*7024A>G (n.*7024A>G)
c.6964A>G (p.Asn2322Asp)
c.7018A>G (p.Asn2340Asp)
c.*6340A>G (n.*6340A>G)
c.230+13640A>G
c.7048A>G (p.Asn2350Asp)
c.6943A>G (p.Asn2315Asp)
c.6934A>G (p.Asn2312Asp)
c.6895A>G (p.Asn2299Asp)
c.6841A>G (p.Asn2281Asp)
c.6745A>G (p.Asn2249Asp)
c.6715A>G (p.Asn2239Asp)
c.6640A>G (p.Asn2214Asp)
c.6538A>G (p.Asn2180Asp)
c.6169A>G (p.Asn2057Asp)
5g.112842612A>TCA16036629APCc.7072A>T (p.Asn2358Tyr)
c.*7024A>T (n.*7024A>T)
c.6964A>T (p.Asn2322Tyr)
c.7018A>T (p.Asn2340Tyr)
c.*6340A>T (n.*6340A>T)
c.230+13640A>T
c.7048A>T (p.Asn2350Tyr)
c.6943A>T (p.Asn2315Tyr)
c.6934A>T (p.Asn2312Tyr)
c.6895A>T (p.Asn2299Tyr)
c.6841A>T (p.Asn2281Tyr)
c.6745A>T (p.Asn2249Tyr)
c.6715A>T (p.Asn2239Tyr)
c.6640A>T (p.Asn2214Tyr)
c.6538A>T (p.Asn2180Tyr)
c.6169A>T (p.Asn2057Tyr)
dbSNP
5g.112842613A>CCA16036630APCc.7073A>C (p.Asn2358Thr)
c.*7025A>C (n.*7025A>C)
c.6965A>C (p.Asn2322Thr)
c.7019A>C (p.Asn2340Thr)
c.*6341A>C (n.*6341A>C)
c.230+13641A>C
c.7049A>C (p.Asn2350Thr)
c.6944A>C (p.Asn2315Thr)
c.6935A>C (p.Asn2312Thr)
c.6896A>C (p.Asn2299Thr)
c.6842A>C (p.Asn2281Thr)
c.6746A>C (p.Asn2249Thr)
c.6716A>C (p.Asn2239Thr)
c.6641A>C (p.Asn2214Thr)
c.6539A>C (p.Asn2180Thr)
c.6170A>C (p.Asn2057Thr)
dbSNP
5g.112842613A>GCA16036631APCc.7073A>G (p.Asn2358Ser)
c.*7025A>G (n.*7025A>G)
c.6965A>G (p.Asn2322Ser)
c.7019A>G (p.Asn2340Ser)
c.*6341A>G (n.*6341A>G)
c.230+13641A>G
c.7049A>G (p.Asn2350Ser)
c.6944A>G (p.Asn2315Ser)
c.6935A>G (p.Asn2312Ser)
c.6896A>G (p.Asn2299Ser)
c.6842A>G (p.Asn2281Ser)
c.6746A>G (p.Asn2249Ser)
c.6716A>G (p.Asn2239Ser)
c.6641A>G (p.Asn2214Ser)
c.6539A>G (p.Asn2180Ser)
c.6170A>G (p.Asn2057Ser)
dbSNP
5g.112842613A>TCA16036632APCc.7073A>T (p.Asn2358Ile)
c.*7025A>T (n.*7025A>T)
c.6965A>T (p.Asn2322Ile)
c.7019A>T (p.Asn2340Ile)
c.*6341A>T (n.*6341A>T)
c.230+13641A>T
c.7049A>T (p.Asn2350Ile)
c.6944A>T (p.Asn2315Ile)
c.6935A>T (p.Asn2312Ile)
c.6896A>T (p.Asn2299Ile)
c.6842A>T (p.Asn2281Ile)
c.6746A>T (p.Asn2249Ile)
c.6716A>T (p.Asn2239Ile)
c.6641A>T (p.Asn2214Ile)
c.6539A>T (p.Asn2180Ile)
c.6170A>T (p.Asn2057Ile)
dbSNP
5g.112842614C>ACA16036633APCc.7074C>A (p.Asn2358Lys)
c.*7026C>A (n.*7026C>A)
c.6966C>A (p.Asn2322Lys)
c.7020C>A (p.Asn2340Lys)
c.*6342C>A (n.*6342C>A)
c.230+13642C>A
c.7050C>A (p.Asn2350Lys)
c.6945C>A (p.Asn2315Lys)
c.6936C>A (p.Asn2312Lys)
c.6897C>A (p.Asn2299Lys)
c.6843C>A (p.Asn2281Lys)
c.6747C>A (p.Asn2249Lys)
c.6717C>A (p.Asn2239Lys)
c.6642C>A (p.Asn2214Lys)
c.6540C>A (p.Asn2180Lys)
c.6171C>A (p.Asn2057Lys)
ClinVar dbSNP
5g.112842614C=CA1573466081APCc.7074C= (p.Asn2358=)
c.*7026C= (n.*7026C=)
c.6966C= (p.Asn2322=)
c.7020C= (p.Asn2340=)
c.*6342C= (n.*6342C=)
c.230+13642C=
c.7050C= (p.Asn2350=)
c.6945C= (p.Asn2315=)
c.6936C= (p.Asn2312=)
c.6897C= (p.Asn2299=)
c.6843C= (p.Asn2281=)
c.6747C= (p.Asn2249=)
c.6717C= (p.Asn2239=)
c.6642C= (p.Asn2214=)
c.6540C= (p.Asn2180=)
c.6171C= (p.Asn2057=)
5g.112842614C>GCA16036634APCc.7074C>G (p.Asn2358Lys)
c.*7026C>G (n.*7026C>G)
c.6966C>G (p.Asn2322Lys)
c.7020C>G (p.Asn2340Lys)
c.*6342C>G (n.*6342C>G)
c.230+13642C>G
c.7050C>G (p.Asn2350Lys)
c.6945C>G (p.Asn2315Lys)
c.6936C>G (p.Asn2312Lys)
c.6897C>G (p.Asn2299Lys)
c.6843C>G (p.Asn2281Lys)
c.6747C>G (p.Asn2249Lys)
c.6717C>G (p.Asn2239Lys)
c.6642C>G (p.Asn2214Lys)
c.6540C>G (p.Asn2180Lys)
c.6171C>G (p.Asn2057Lys)
ClinVar dbSNP
5g.112842614C>TCA046671APCc.7074C>T (p.Asn2358=)
c.*7026C>T (n.*7026C>T)
c.6966C>T (p.Asn2322=)
c.7020C>T (p.Asn2340=)
c.*6342C>T (n.*6342C>T)
c.230+13642C>T
c.7050C>T (p.Asn2350=)
c.6945C>T (p.Asn2315=)
c.6936C>T (p.Asn2312=)
c.6897C>T (p.Asn2299=)
c.6843C>T (p.Asn2281=)
c.6747C>T (p.Asn2249=)
c.6717C>T (p.Asn2239=)
c.6642C>T (p.Asn2214=)
c.6540C>T (p.Asn2180=)
c.6171C>T (p.Asn2057=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842615A>CCA16036635APCc.7075A>C (p.Lys2359Gln)
c.*7027A>C (n.*7027A>C)
c.6967A>C (p.Lys2323Gln)
c.7021A>C (p.Lys2341Gln)
c.*6343A>C (n.*6343A>C)
c.230+13643A>C
c.7051A>C (p.Lys2351Gln)
c.6946A>C (p.Lys2316Gln)
c.6937A>C (p.Lys2313Gln)
c.6898A>C (p.Lys2300Gln)
c.6844A>C (p.Lys2282Gln)
c.6748A>C (p.Lys2250Gln)
c.6718A>C (p.Lys2240Gln)
c.6643A>C (p.Lys2215Gln)
c.6541A>C (p.Lys2181Gln)
c.6172A>C (p.Lys2058Gln)
5g.112842615A>GCA16036636APCc.7075A>G (p.Lys2359Glu)
c.*7027A>G (n.*7027A>G)
c.6967A>G (p.Lys2323Glu)
c.7021A>G (p.Lys2341Glu)
c.*6343A>G (n.*6343A>G)
c.230+13643A>G
c.7051A>G (p.Lys2351Glu)
c.6946A>G (p.Lys2316Glu)
c.6937A>G (p.Lys2313Glu)
c.6898A>G (p.Lys2300Glu)
c.6844A>G (p.Lys2282Glu)
c.6748A>G (p.Lys2250Glu)
c.6718A>G (p.Lys2240Glu)
c.6643A>G (p.Lys2215Glu)
c.6541A>G (p.Lys2181Glu)
c.6172A>G (p.Lys2058Glu)
dbSNP
5g.112842615A>TCA16036637APCc.7075A>T (p.Lys2359Ter)
c.*7027A>T (n.*7027A>T)
c.6967A>T (p.Lys2323Ter)
c.7021A>T (p.Lys2341Ter)
c.*6343A>T (n.*6343A>T)
c.230+13643A>T
c.7051A>T (p.Lys2351Ter)
c.6946A>T (p.Lys2316Ter)
c.6937A>T (p.Lys2313Ter)
c.6898A>T (p.Lys2300Ter)
c.6844A>T (p.Lys2282Ter)
c.6748A>T (p.Lys2250Ter)
c.6718A>T (p.Lys2240Ter)
c.6643A>T (p.Lys2215Ter)
c.6541A>T (p.Lys2181Ter)
c.6172A>T (p.Lys2058Ter)
dbSNP
5g.112842616A=CA1573466104APCc.7076A= (p.Lys2359=)
c.*7028A= (n.*7028A=)
c.6968A= (p.Lys2323=)
c.7022A= (p.Lys2341=)
c.*6344A= (n.*6344A=)
c.230+13644A=
c.7052A= (p.Lys2351=)
c.6947A= (p.Lys2316=)
c.6938A= (p.Lys2313=)
c.6899A= (p.Lys2300=)
c.6845A= (p.Lys2282=)
c.6749A= (p.Lys2250=)
c.6719A= (p.Lys2240=)
c.6644A= (p.Lys2215=)
c.6542A= (p.Lys2181=)
c.6173A= (p.Lys2058=)
5g.112842616A>CCA16036638APCc.7076A>C (p.Lys2359Thr)
c.*7028A>C (n.*7028A>C)
c.6968A>C (p.Lys2323Thr)
c.7022A>C (p.Lys2341Thr)
c.*6344A>C (n.*6344A>C)
c.230+13644A>C
c.7052A>C (p.Lys2351Thr)
c.6947A>C (p.Lys2316Thr)
c.6938A>C (p.Lys2313Thr)
c.6899A>C (p.Lys2300Thr)
c.6845A>C (p.Lys2282Thr)
c.6749A>C (p.Lys2250Thr)
c.6719A>C (p.Lys2240Thr)
c.6644A>C (p.Lys2215Thr)
c.6542A>C (p.Lys2181Thr)
c.6173A>C (p.Lys2058Thr)
5g.112842616A>GCA046686APCc.7076A>G (p.Lys2359Arg)
c.*7028A>G (n.*7028A>G)
c.6968A>G (p.Lys2323Arg)
c.7022A>G (p.Lys2341Arg)
c.*6344A>G (n.*6344A>G)
c.230+13644A>G
c.7052A>G (p.Lys2351Arg)
c.6947A>G (p.Lys2316Arg)
c.6938A>G (p.Lys2313Arg)
c.6899A>G (p.Lys2300Arg)
c.6845A>G (p.Lys2282Arg)
c.6749A>G (p.Lys2250Arg)
c.6719A>G (p.Lys2240Arg)
c.6644A>G (p.Lys2215Arg)
c.6542A>G (p.Lys2181Arg)
c.6173A>G (p.Lys2058Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842616A>TCA16036639APCc.7076A>T (p.Lys2359Ile)
c.*7028A>T (n.*7028A>T)
c.6968A>T (p.Lys2323Ile)
c.7022A>T (p.Lys2341Ile)
c.*6344A>T (n.*6344A>T)
c.230+13644A>T
c.7052A>T (p.Lys2351Ile)
c.6947A>T (p.Lys2316Ile)
c.6938A>T (p.Lys2313Ile)
c.6899A>T (p.Lys2300Ile)
c.6845A>T (p.Lys2282Ile)
c.6749A>T (p.Lys2250Ile)
c.6719A>T (p.Lys2240Ile)
c.6644A>T (p.Lys2215Ile)
c.6542A>T (p.Lys2181Ile)
c.6173A>T (p.Lys2058Ile)
dbSNP
5g.112842616_112842619delinsAATTCA1573466097APCc.7076_7079delinsAATT (p.Lys2359=)
c.*7028_*7031delinsAATT (n.*7028_*7031delinsAATT)
c.6968_6971delinsAATT (p.Lys2323=)
c.7022_7025delinsAATT (p.Lys2341=)
c.*6344_*6347delinsAATT (n.*6344_*6347delinsAATT)
c.230+13644_230+13647delinsAATT
c.7052_7055delinsAATT (p.Lys2351=)
c.6947_6950delinsAATT (p.Lys2316=)
c.6938_6941delinsAATT (p.Lys2313=)
c.6899_6902delinsAATT (p.Lys2300=)
c.6845_6848delinsAATT (p.Lys2282=)
c.6749_6752delinsAATT (p.Lys2250=)
c.6719_6722delinsAATT (p.Lys2240=)
c.6644_6647delinsAATT (p.Lys2215=)
c.6542_6545delinsAATT (p.Lys2181=)
c.6173_6176delinsAATT (p.Lys2058=)
5g.112842617A>CCA16036640APCc.7077A>C (p.Lys2359Asn)
c.*7029A>C (n.*7029A>C)
c.6969A>C (p.Lys2323Asn)
c.7023A>C (p.Lys2341Asn)
c.*6345A>C (n.*6345A>C)
c.230+13645A>C
c.7053A>C (p.Lys2351Asn)
c.6948A>C (p.Lys2316Asn)
c.6939A>C (p.Lys2313Asn)
c.6900A>C (p.Lys2300Asn)
c.6846A>C (p.Lys2282Asn)
c.6750A>C (p.Lys2250Asn)
c.6720A>C (p.Lys2240Asn)
c.6645A>C (p.Lys2215Asn)
c.6543A>C (p.Lys2181Asn)
c.6174A>C (p.Lys2058Asn)
dbSNP
5g.112842617A>GCA446210740APCc.7077A>G (p.Lys2359=)
c.*7029A>G (n.*7029A>G)
c.6969A>G (p.Lys2323=)
c.7023A>G (p.Lys2341=)
c.*6345A>G (n.*6345A>G)
c.230+13645A>G
c.7053A>G (p.Lys2351=)
c.6948A>G (p.Lys2316=)
c.6939A>G (p.Lys2313=)
c.6900A>G (p.Lys2300=)
c.6846A>G (p.Lys2282=)
c.6750A>G (p.Lys2250=)
c.6720A>G (p.Lys2240=)
c.6645A>G (p.Lys2215=)
c.6543A>G (p.Lys2181=)
c.6174A>G (p.Lys2058=)
ClinVar dbSNP
5g.112842617A>TCA16036641APCc.7077A>T (p.Lys2359Asn)
c.*7029A>T (n.*7029A>T)
c.6969A>T (p.Lys2323Asn)
c.7023A>T (p.Lys2341Asn)
c.*6345A>T (n.*6345A>T)
c.230+13645A>T
c.7053A>T (p.Lys2351Asn)
c.6948A>T (p.Lys2316Asn)
c.6939A>T (p.Lys2313Asn)
c.6900A>T (p.Lys2300Asn)
c.6846A>T (p.Lys2282Asn)
c.6750A>T (p.Lys2250Asn)
c.6720A>T (p.Lys2240Asn)
c.6645A>T (p.Lys2215Asn)
c.6543A>T (p.Lys2181Asn)
c.6174A>T (p.Lys2058Asn)
dbSNP
5g.112842619_112842621delCA1139659000APCc.7079_7081del (p.Leu2360del)
c.*7031_*7033del (n.*7031_*7033del)
c.6971_6973del (p.Leu2324del)
c.7025_7027del (p.Leu2342del)
c.*6347_*6349del (n.*6347_*6349del)
c.230+13647_230+13649del
c.7055_7057del (p.Leu2352del)
c.6950_6952del (p.Leu2317del)
c.6941_6943del (p.Leu2314del)
c.6902_6904del (p.Leu2301del)
c.6848_6850del (p.Leu2283del)
c.6752_6754del (p.Leu2251del)
c.6722_6724del (p.Leu2241del)
c.6647_6649del (p.Leu2216del)
c.6545_6547del (p.Leu2182del)
c.6176_6178del (p.Leu2059del)
ClinVar dbSNP
5g.112842618T>ACA16036642APCc.7078T>A (p.Leu2360Ile)
c.*7030T>A (n.*7030T>A)
c.6970T>A (p.Leu2324Ile)
c.7024T>A (p.Leu2342Ile)
c.*6346T>A (n.*6346T>A)
c.230+13646T>A
c.7054T>A (p.Leu2352Ile)
c.6949T>A (p.Leu2317Ile)
c.6940T>A (p.Leu2314Ile)
c.6901T>A (p.Leu2301Ile)
c.6847T>A (p.Leu2283Ile)
c.6751T>A (p.Leu2251Ile)
c.6721T>A (p.Leu2241Ile)
c.6646T>A (p.Leu2216Ile)
c.6544T>A (p.Leu2182Ile)
c.6175T>A (p.Leu2059Ile)
dbSNP gnomAD v4
5g.112842618T>CCA446210745APCc.7078T>C (p.Leu2360=)
c.*7030T>C (n.*7030T>C)
c.6970T>C (p.Leu2324=)
c.7024T>C (p.Leu2342=)
c.*6346T>C (n.*6346T>C)
c.230+13646T>C
c.7054T>C (p.Leu2352=)
c.6949T>C (p.Leu2317=)
c.6940T>C (p.Leu2314=)
c.6901T>C (p.Leu2301=)
c.6847T>C (p.Leu2283=)
c.6751T>C (p.Leu2251=)
c.6721T>C (p.Leu2241=)
c.6646T>C (p.Leu2216=)
c.6544T>C (p.Leu2182=)
c.6175T>C (p.Leu2059=)
ClinVar dbSNP
5g.112842618T>GCA16036643APCc.7078T>G (p.Leu2360Val)
c.*7030T>G (n.*7030T>G)
c.6970T>G (p.Leu2324Val)
c.7024T>G (p.Leu2342Val)
c.*6346T>G (n.*6346T>G)
c.230+13646T>G
c.7054T>G (p.Leu2352Val)
c.6949T>G (p.Leu2317Val)
c.6940T>G (p.Leu2314Val)
c.6901T>G (p.Leu2301Val)
c.6847T>G (p.Leu2283Val)
c.6751T>G (p.Leu2251Val)
c.6721T>G (p.Leu2241Val)
c.6646T>G (p.Leu2216Val)
c.6544T>G (p.Leu2182Val)
c.6175T>G (p.Leu2059Val)
dbSNP
5g.112842619T>ACA16036644APCc.7079T>A (p.Leu2360Ter)
c.*7031T>A (n.*7031T>A)
c.6971T>A (p.Leu2324Ter)
c.7025T>A (p.Leu2342Ter)
c.*6347T>A (n.*6347T>A)
c.230+13647T>A
c.7055T>A (p.Leu2352Ter)
c.6950T>A (p.Leu2317Ter)
c.6941T>A (p.Leu2314Ter)
c.6902T>A (p.Leu2301Ter)
c.6848T>A (p.Leu2283Ter)
c.6752T>A (p.Leu2251Ter)
c.6722T>A (p.Leu2241Ter)
c.6647T>A (p.Leu2216Ter)
c.6545T>A (p.Leu2182Ter)
c.6176T>A (p.Leu2059Ter)
dbSNP
5g.112842619T>CCA16036645APCc.7079T>C (p.Leu2360Ser)
c.*7031T>C (n.*7031T>C)
c.6971T>C (p.Leu2324Ser)
c.7025T>C (p.Leu2342Ser)
c.*6347T>C (n.*6347T>C)
c.230+13647T>C
c.7055T>C (p.Leu2352Ser)
c.6950T>C (p.Leu2317Ser)
c.6941T>C (p.Leu2314Ser)
c.6902T>C (p.Leu2301Ser)
c.6848T>C (p.Leu2283Ser)
c.6752T>C (p.Leu2251Ser)
c.6722T>C (p.Leu2241Ser)
c.6647T>C (p.Leu2216Ser)
c.6545T>C (p.Leu2182Ser)
c.6176T>C (p.Leu2059Ser)
dbSNP
5g.112842619T>GCA16036646APCc.7079T>G (p.Leu2360Ter)
c.*7031T>G (n.*7031T>G)
c.6971T>G (p.Leu2324Ter)
c.7025T>G (p.Leu2342Ter)
c.*6347T>G (n.*6347T>G)
c.230+13647T>G
c.7055T>G (p.Leu2352Ter)
c.6950T>G (p.Leu2317Ter)
c.6941T>G (p.Leu2314Ter)
c.6902T>G (p.Leu2301Ter)
c.6848T>G (p.Leu2283Ter)
c.6752T>G (p.Leu2251Ter)
c.6722T>G (p.Leu2241Ter)
c.6647T>G (p.Leu2216Ter)
c.6545T>G (p.Leu2182Ter)
c.6176T>G (p.Leu2059Ter)
5g.112842620A=CA1573466118APCc.7080A= (p.Leu2360=)
c.*7032A= (n.*7032A=)
c.6972A= (p.Leu2324=)
c.7026A= (p.Leu2342=)
c.*6348A= (n.*6348A=)
c.230+13648A=
c.7056A= (p.Leu2352=)
c.6951A= (p.Leu2317=)
c.6942A= (p.Leu2314=)
c.6903A= (p.Leu2301=)
c.6849A= (p.Leu2283=)
c.6753A= (p.Leu2251=)
c.6723A= (p.Leu2241=)
c.6648A= (p.Leu2216=)
c.6546A= (p.Leu2182=)
c.6177A= (p.Leu2059=)
5g.112842620A>CCA046700APCc.7080A>C (p.Leu2360Phe)
c.*7032A>C (n.*7032A>C)
c.6972A>C (p.Leu2324Phe)
c.7026A>C (p.Leu2342Phe)
c.*6348A>C (n.*6348A>C)
c.230+13648A>C
c.7056A>C (p.Leu2352Phe)
c.6951A>C (p.Leu2317Phe)
c.6942A>C (p.Leu2314Phe)
c.6903A>C (p.Leu2301Phe)
c.6849A>C (p.Leu2283Phe)
c.6753A>C (p.Leu2251Phe)
c.6723A>C (p.Leu2241Phe)
c.6648A>C (p.Leu2216Phe)
c.6546A>C (p.Leu2182Phe)
c.6177A>C (p.Leu2059Phe)
dbSNP ExAC gnomAD v2
5g.112842620A>GCA349688APCc.7080A>G (p.Leu2360=)
c.*7032A>G (n.*7032A>G)
c.6972A>G (p.Leu2324=)
c.7026A>G (p.Leu2342=)
c.*6348A>G (n.*6348A>G)
c.230+13648A>G
c.7056A>G (p.Leu2352=)
c.6951A>G (p.Leu2317=)
c.6942A>G (p.Leu2314=)
c.6903A>G (p.Leu2301=)
c.6849A>G (p.Leu2283=)
c.6753A>G (p.Leu2251=)
c.6723A>G (p.Leu2241=)
c.6648A>G (p.Leu2216=)
c.6546A>G (p.Leu2182=)
c.6177A>G (p.Leu2059=)
ClinVar dbSNP gnomAD v4
5g.112842620A>TCA16036647APCc.7080A>T (p.Leu2360Phe)
c.*7032A>T (n.*7032A>T)
c.6972A>T (p.Leu2324Phe)
c.7026A>T (p.Leu2342Phe)
c.*6348A>T (n.*6348A>T)
c.230+13648A>T
c.7056A>T (p.Leu2352Phe)
c.6951A>T (p.Leu2317Phe)
c.6942A>T (p.Leu2314Phe)
c.6903A>T (p.Leu2301Phe)
c.6849A>T (p.Leu2283Phe)
c.6753A>T (p.Leu2251Phe)
c.6723A>T (p.Leu2241Phe)
c.6648A>T (p.Leu2216Phe)
c.6546A>T (p.Leu2182Phe)
c.6177A>T (p.Leu2059Phe)
ClinVar dbSNP gnomAD v4

Number of alleles fetched