Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.102208066dupCA652596424RRM2Bc.*74dup (n.*74dup)
n.517dup
c.1299dup
 gnomAD v4 COSMIC
8g.102208066delCA10626675RRM2Bc.*74del (n.*74del)
n.517del
c.1299del
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.102208062T>GCA1117296835RRM2Bc.*71A>C (n.*71A>C)
n.514A>C
c.1296A>C
 dbSNP gnomAD v3 gnomAD v4
8g.102208062T=CA1806674635RRM2Bc.*71A= (n.*71A=)
n.514A=
c.1296A=
8g.102208066T>ACA2579221153RRM2Bc.*67A>T (n.*67A>T)
n.510A>T
c.1292A>T
8g.102208066T>GCA2579221152RRM2Bc.*67A>C (n.*67A>C)
n.510A>C
c.1292A>C
8g.102208067A>GCA2688143417RRM2Bc.*66T>C (n.*66T>C)
n.509T>C
c.1291T>C
 gnomAD v4
8g.102208067A>TCA2688143418RRM2Bc.*66T>A (n.*66T>A)
n.509T>A
c.1291T>A
 gnomAD v4
8g.102208068A>GCA2688143419RRM2Bc.*65T>C (n.*65T>C)
n.508T>C
c.1290T>C
 gnomAD v4
8g.102208069G>TCA2688143420RRM2Bc.*64C>A (n.*64C>A)
n.507C>A
c.1289C>A
 gnomAD v4
8g.102208070C>ACA2688143421RRM2Bc.*63G>T (n.*63G>T)
n.506G>T
c.1288G>T
 gnomAD v4
8g.102208071A>GCA2579221154RRM2Bc.*62T>C (n.*62T>C)
n.505T>C
c.1287T>C
 gnomAD v4
8g.102208072G>CCA2688143422RRM2Bc.*61C>G (n.*61C>G)
n.504C>G
c.1286C>G
 gnomAD v4
8g.102208074G>ACA182464051RRM2Bc.*59C>T (n.*59C>T)
n.502C>T
c.1284C>T
 dbSNP gnomAD v4
8g.102208074G=CA1806674636RRM2Bc.*59C= (n.*59C=)
n.502C=
c.1284C=
8g.102208074G>TCA2688143423RRM2Bc.*59C>A (n.*59C>A)
n.502C>A
c.1284C>A
 gnomAD v4
8g.102208076A>TCA2688143424RRM2Bc.*57T>A (n.*57T>A)
n.500T>A
c.1282T>A
 gnomAD v4
8g.102208079delCA2688143425RRM2Bc.*57del (n.*57del)
n.500del
c.1282del
 gnomAD v4
8g.102208077A>GCA2579221155RRM2Bc.*56T>C (n.*56T>C)
n.499T>C
c.1281T>C
8g.102208078A>TCA2688143426RRM2Bc.*55T>A (n.*55T>A)
n.498T>A
c.1280T>A
 gnomAD v4
8g.102208080T>CCA182464053RRM2Bc.*53A>G (n.*53A>G)
n.496A>G
c.1278A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.102208080T=CA1806674637RRM2Bc.*53A= (n.*53A=)
n.496A=
c.1278A=
8g.102208082G>CCA4830945RRM2Bc.*51C>G (n.*51C>G)
n.494C>G
c.1276C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.102208082G=CA1806674638RRM2Bc.*51C= (n.*51C=)
n.494C=
c.1276C=
8g.102208082G>TCA4830944RRM2Bc.*51C>A (n.*51C>A)
n.494C>A
c.1276C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.102208085T>CCA4830946RRM2Bc.*48A>G (n.*48A>G)
n.491A>G
c.1273A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.102208085T=CA1806674639RRM2Bc.*48A= (n.*48A=)
n.491A=
c.1273A=
8g.102208089A>GCA2688143427RRM2Bc.*44T>C (n.*44T>C)
n.487T>C
c.1269T>C
 gnomAD v4
8g.102208090T>CCA1806674641RRM2Bc.*43A>G (n.*43A>G)
n.486A>G
c.1268A>G
 dbSNP gnomAD v4
8g.102208090T=CA1806674640RRM2Bc.*43A= (n.*43A=)
n.486A=
c.1268A=
8g.102208091T>CCA2688143428RRM2Bc.*42A>G (n.*42A>G)
n.485A>G
c.1267A>G
 gnomAD v4
8g.102208092T>ACA2688143429RRM2Bc.*41A>T (n.*41A>T)
n.484A>T
c.1266A>T
 gnomAD v4
8g.102208093A>GCA652596445RRM2Bc.*40T>C (n.*40T>C)
n.483T>C
c.1265T>C
 gnomAD v4 COSMIC
8g.102208093A>TCA2688143430RRM2Bc.*40T>A (n.*40T>A)
n.483T>A
c.1265T>A
 gnomAD v4
8g.102208094C>GCA2688143431RRM2Bc.*39G>C (n.*39G>C)
n.482G>C
c.1264G>C
 gnomAD v4
8g.102208095C>ACA2688143432RRM2Bc.*38G>T (n.*38G>T)
n.481G>T
c.1263G>T
 gnomAD v4
8g.102208095C=CA1806674642RRM2Bc.*38G= (n.*38G=)
n.481G=
c.1263G=
8g.102208095C>GCA1806674644RRM2Bc.*38G>C (n.*38G>C)
n.481G>C
c.1263G>C
 dbSNP
8g.102208095C>TCA1806674643RRM2Bc.*38G>A (n.*38G>A)
n.481G>A
c.1263G>A
 dbSNP gnomAD v4
8g.102208096A=CA1806674645RRM2Bc.*37T= (n.*37T=)
n.480T=
c.1262T=
8g.102208096A>CCA583906469RRM2Bc.*37T>G (n.*37T>G)
n.480T>G
c.1262T>G
 dbSNP gnomAD v2 gnomAD v4
8g.102208096A>GCA844764499RRM2Bc.*37T>C (n.*37T>C)
n.480T>C
c.1262T>C
 dbSNP gnomAD v3 gnomAD v4
8g.102208096A>TCA4830947RRM2Bc.*37T>A (n.*37T>A)
n.480T>A
c.1262T>A
 dbSNP ExAC gnomAD v2
8g.102208098T>CCA4830948RRM2Bc.*35A>G (n.*35A>G)
n.478A>G
c.1260A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.102208098T=CA1806674646RRM2Bc.*35A= (n.*35A=)
n.478A=
c.1260A=
8g.102208099G>TCA2579221156RRM2Bc.*34C>A (n.*34C>A)
n.477C>A
c.1259C>A
 gnomAD v4
8g.102208100A>CCA2688143433RRM2Bc.*33T>G (n.*33T>G)
n.476T>G
c.1258T>G
 gnomAD v4
8g.102208100A>GCA2688143434RRM2Bc.*33T>C (n.*33T>C)
n.476T>C
c.1258T>C
 gnomAD v4
8g.102208101C=CA1806674647RRM2Bc.*32G= (n.*32G=)
n.475G=
c.1257G=
8g.102208101C>TCA4830949RRM2Bc.*32G>A (n.*32G>A)
n.475G>A
c.1257G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.102208102A>GCA2688143435RRM2Bc.*31T>C (n.*31T>C)
n.474T>C
c.1256T>C
 gnomAD v4
8g.102208104G>TCA2688143436RRM2Bc.*29C>A (n.*29C>A)
n.472C>A
c.1254C>A
 gnomAD v4
8g.102208105T>GCA2688143437RRM2Bc.*28A>C (n.*28A>C)
n.471A>C
c.1253A>C
 gnomAD v4
8g.102208106T>ACA2688143438RRM2Bc.*27A>T (n.*27A>T)
n.470A>T
c.1252A>T
 gnomAD v4
8g.102208107T>CCA2688143439RRM2Bc.*26A>G (n.*26A>G)
n.469A>G
c.1251A>G
 gnomAD v4
8g.102208109T>CCA583906475RRM2Bc.*24A>G (n.*24A>G)
n.467A>G
c.1249A>G
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.102208109T=CA1806674648RRM2Bc.*24A= (n.*24A=)
n.467A=
c.1249A=
8g.102208110A=CA1806674649RRM2Bc.*23T= (n.*23T=)
n.466T=
c.1248T=
8g.102208110A>GCA4830950RRM2Bc.*23T>C (n.*23T>C)
n.466T>C
c.1248T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.102208112_102208113delCA2579221157RRM2Bc.*22_*23del (n.*22_*23del)
n.465_466del
c.1247_1248del
 gnomAD v4
8g.102208111G>TCA2688143440RRM2Bc.*22C>A (n.*22C>A)
n.465C>A
c.1247C>A
 gnomAD v4
8g.102208112A=CA1806674650RRM2Bc.*21T= (n.*21T=)
n.464T=
c.1246T=
8g.102208112A>CCA4830951RRM2Bc.*21T>G (n.*21T>G)
n.464T>G
c.1246T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.102208113G>ACA583906499RRM2Bc.*20C>T (n.*20C>T)
n.463C>T
c.1245C>T
 dbSNP gnomAD v2 gnomAD v4
8g.102208113G>CCA1117296852RRM2Bc.*20C>G (n.*20C>G)
n.463C>G
c.1245C>G
 dbSNP gnomAD v3 gnomAD v4
8g.102208113G=CA1806674651RRM2Bc.*20C= (n.*20C=)
n.463C=
c.1245C=
8g.102208119A>GCA2688143441RRM2Bc.*14T>C (n.*14T>C)
n.457T>C
c.1239T>C
 gnomAD v4
8g.102208121A>CCA2781539894RRM2Bc.*12T>G (n.*12T>G)
n.455T>G
c.1237T>G
8g.102208121A>GCA2688143442RRM2Bc.*12T>C (n.*12T>C)
n.455T>C
c.1237T>C
 gnomAD v4
8g.102208121_102208123delinsACGCA1806674652RRM2Bc.*10_*12delinsCGT (n.*10_*12delinsCGT)
n.453_455delinsCGT
c.1235_1237delinsCGT
8g.102208122C>ACA182464131RRM2Bc.*11G>T (n.*11G>T)
n.454G>T
c.1236G>T
 dbSNP gnomAD v4
8g.102208122C=CA1806674653RRM2Bc.*11G= (n.*11G=)
n.454G=
c.1236G=
8g.102208122C>TCA4830952RRM2Bc.*11G>A (n.*11G>A)
n.454G>A
c.1236G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.102208122_102208123delinsTCA918329285RRM2Bc.*10_*11delinsA (n.*10_*11delinsA)
n.453_454delinsA
c.1235_1236delinsA
 dbSNP
8g.102208122_102208123delinsCGCA1806674654RRM2Bc.*10_*11delinsCG (n.*10_*11delinsCG)
n.453_454delinsCG
c.1235_1236delinsCG
8g.102208123delCA918329286RRM2Bc.*10del (n.*10del)
n.453del
c.1235del
 dbSNP
8g.102208123G>ACA182464137RRM2Bc.*10C>T (n.*10C>T)
n.453C>T
c.1235C>T
 dbSNP gnomAD v3 gnomAD v4
8g.102208123G>CCA1806674655RRM2Bc.*10C>G (n.*10C>G)
n.453C>G
c.1235C>G
 dbSNP
8g.102208123G=CA4830953RRM2Bc.*10C= (n.*10C=)
n.453C=
c.1235C=
8g.102208123G>TCA4830954RRM2Bc.*10C>A (n.*10C>A)
n.453C>A
c.1235C>A
 dbSNP gnomAD v4
8g.102208126_102208127delCA2688143443RRM2Bc.*9_*10del (n.*9_*10del)
n.452_453del
c.1234_1235del
 gnomAD v4
8g.102208124A=CA1806674656RRM2Bc.*9T= (n.*9T=)
n.452T=
c.1234T=
8g.102208124A>GCA844764529RRM2Bc.*9T>C (n.*9T>C)
n.452T>C
c.1234T>C
 dbSNP gnomAD v3 gnomAD v4
8g.102208125G>ACA652596465RRM2Bc.*8C>T (n.*8C>T)
n.451C>T
c.1233C>T
 COSMIC COSMIC
8g.102208125G>CCA182464163RRM2Bc.*8C>G (n.*8C>G)
n.451C>G
c.1233C>G
 dbSNP gnomAD v3 gnomAD v4
8g.102208125G=CA1806674657RRM2Bc.*8C= (n.*8C=)
n.451C=
c.1233C=
8g.102208127G>ACA583906512RRM2Bc.*6C>T (n.*6C>T)
n.449C>T
c.1231C>T
 dbSNP gnomAD v2
8g.102208127G=CA1806674658RRM2Bc.*6C= (n.*6C=)
n.449C=
c.1231C=
8g.102208127G>TCA2688143444RRM2Bc.*6C>A (n.*6C>A)
n.449C>A
c.1231C>A
 gnomAD v4
8g.102208128G>ACA4830955RRM2Bc.*5C>T (n.*5C>T)
n.448C>T
c.1230C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.102208128G=CA1806674659RRM2Bc.*5C= (n.*5C=)
n.448C=
c.1230C=
8g.102208128G>TCA2688143445RRM2Bc.*5C>A (n.*5C>A)
n.448C>A
c.1230C>A
 gnomAD v4
8g.102208129T>CCA915674870RRM2Bc.*4A>G (n.*4A>G)
n.447A>G
c.1229A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.102208129T=CA1806674660RRM2Bc.*4A= (n.*4A=)
n.447A=
c.1229A=
8g.102208134dupCA658822818RRM2Bc.*4dup (n.*4dup)
n.447dup
c.1229dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.102208130T>GCA2688143446RRM2Bc.*3A>C (n.*3A>C)
n.446A>C
c.1228A>C
 gnomAD v4
8g.102208133T>ACA371585158RRM2Bc.1056A>T (p.Ter352Tyr)
n.443A>T
c.900A>T (p.Ter300Tyr)
c.420A>T (p.Ter140Tyr)
c.201A>T (p.Ter67Tyr)
c.1225A>T
c.389A>T (n.389A>T)
c.894A>T (p.Ter298Tyr)
c.1272A>T (p.Ter424Tyr)
8g.102208133T>CCA462123648RRM2Bc.1056A>G (p.Ter352=)
n.443A>G
c.900A>G (p.Ter300=)
c.420A>G (p.Ter140=)
c.201A>G (p.Ter67=)
c.1225A>G
c.389A>G (n.389A>G)
c.894A>G (p.Ter298=)
c.1272A>G (p.Ter424=)
8g.102208133T>GCA371585163RRM2Bc.1056A>C (p.Ter352Tyr)
n.443A>C
c.900A>C (p.Ter300Tyr)
c.420A>C (p.Ter140Tyr)
c.201A>C (p.Ter67Tyr)
c.1225A>C
c.389A>C (n.389A>C)
c.894A>C (p.Ter298Tyr)
c.1272A>C (p.Ter424Tyr)
8g.102208134T>ACA371585165RRM2Bc.1055A>T (p.Ter352Leu)
n.442A>T
c.899A>T (p.Ter300Leu)
c.419A>T (p.Ter140Leu)
c.200A>T (p.Ter67Leu)
c.1224A>T
c.388A>T (n.388A>T)
c.893A>T (p.Ter298Leu)
c.1271A>T (p.Ter424Leu)
8g.102208134T>CCA462123649RRM2Bc.1055A>G (p.Ter352=)
n.442A>G
c.899A>G (p.Ter300=)
c.419A>G (p.Ter140=)
c.200A>G (p.Ter67=)
c.1224A>G
c.388A>G (n.388A>G)
c.893A>G (p.Ter298=)
c.1271A>G (p.Ter424=)
8g.102208134T>GCA371585167RRM2Bc.1055A>C (p.Ter352Ser)
n.442A>C
c.899A>C (p.Ter300Ser)
c.419A>C (p.Ter140Ser)
c.200A>C (p.Ter67Ser)
c.1224A>C
c.388A>C (n.388A>C)
c.893A>C (p.Ter298Ser)
c.1271A>C (p.Ter424Ser)
8g.102208135A>CCA371585168RRM2Bc.1054T>G (p.Ter352Glu)
n.441T>G
c.898T>G (p.Ter300Glu)
c.418T>G (p.Ter140Glu)
c.199T>G (p.Ter67Glu)
c.1223T>G
c.387T>G (n.387T>G)
c.892T>G (p.Ter298Glu)
c.1270T>G (p.Ter424Glu)
8g.102208135A>GCA371585170RRM2Bc.1054T>C (p.Ter352Gln)
n.441T>C
c.898T>C (p.Ter300Gln)
c.418T>C (p.Ter140Gln)
c.199T>C (p.Ter67Gln)
c.1223T>C
c.387T>C (n.387T>C)
c.892T>C (p.Ter298Gln)
c.1270T>C (p.Ter424Gln)
8g.102208135A>TCA371585171RRM2Bc.1054T>A (p.Ter352Lys)
n.441T>A
c.898T>A (p.Ter300Lys)
c.418T>A (p.Ter140Lys)
c.199T>A (p.Ter67Lys)
c.1223T>A
c.387T>A (n.387T>A)
c.892T>A (p.Ter298Lys)
c.1270T>A (p.Ter424Lys)
8g.102208136A>CCA371585174RRM2Bc.1053T>G (p.Phe351Leu)
n.440T>G
c.897T>G (p.Phe299Leu)
c.417T>G (p.Phe139Leu)
c.198T>G (p.Phe66Leu)
c.1222T>G
c.386T>G (n.386T>G)
c.891T>G (p.Phe297Leu)
c.1269T>G (p.Phe423Leu)
8g.102208136A>GCA462123650RRM2Bc.1053T>C (p.Phe351=)
n.440T>C
c.897T>C (p.Phe299=)
c.417T>C (p.Phe139=)
c.198T>C (p.Phe66=)
c.1222T>C
c.386T>C (n.386T>C)
c.891T>C (p.Phe297=)
c.1269T>C (p.Phe423=)
8g.102208136A>TCA371585172RRM2Bc.1053T>A (p.Phe351Leu)
n.440T>A
c.897T>A (p.Phe299Leu)
c.417T>A (p.Phe139Leu)
c.198T>A (p.Phe66Leu)
c.1222T>A
c.386T>A (n.386T>A)
c.891T>A (p.Phe297Leu)
c.1269T>A (p.Phe423Leu)
8g.102208137A>CCA371585176RRM2Bc.1052T>G (p.Phe351Cys)
n.439T>G
c.896T>G (p.Phe299Cys)
c.416T>G (p.Phe139Cys)
c.197T>G (p.Phe66Cys)
c.1221T>G
c.385T>G (n.385T>G)
c.890T>G (p.Phe297Cys)
c.1268T>G (p.Phe423Cys)
8g.102208137A>GCA371585178RRM2Bc.1052T>C (p.Phe351Ser)
n.439T>C
c.896T>C (p.Phe299Ser)
c.416T>C (p.Phe139Ser)
c.197T>C (p.Phe66Ser)
c.1221T>C
c.385T>C (n.385T>C)
c.890T>C (p.Phe297Ser)
c.1268T>C (p.Phe423Ser)
8g.102208137A>TCA371585177RRM2Bc.1052T>A (p.Phe351Tyr)
n.439T>A
c.896T>A (p.Phe299Tyr)
c.416T>A (p.Phe139Tyr)
c.197T>A (p.Phe66Tyr)
c.1221T>A
c.385T>A (n.385T>A)
c.890T>A (p.Phe297Tyr)
c.1268T>A (p.Phe423Tyr)
8g.102208138A>CCA371585179RRM2Bc.1051T>G (p.Phe351Val)
n.438T>G
c.895T>G (p.Phe299Val)
c.415T>G (p.Phe139Val)
c.196T>G (p.Phe66Val)
c.1220T>G
c.384T>G (n.384T>G)
c.889T>G (p.Phe297Val)
c.1267T>G (p.Phe423Val)
8g.102208138A>GCA371585181RRM2Bc.1051T>C (p.Phe351Leu)
n.438T>C
c.895T>C (p.Phe299Leu)
c.415T>C (p.Phe139Leu)
c.196T>C (p.Phe66Leu)
c.1220T>C
c.384T>C (n.384T>C)
c.889T>C (p.Phe297Leu)
c.1267T>C (p.Phe423Leu)
8g.102208138A>TCA371585180RRM2Bc.1051T>A (p.Phe351Ile)
n.438T>A
c.895T>A (p.Phe299Ile)
c.415T>A (p.Phe139Ile)
c.196T>A (p.Phe66Ile)
c.1220T>A
c.384T>A (n.384T>A)
c.889T>A (p.Phe297Ile)
c.1267T>A (p.Phe423Ile)
8g.102208139A>CCA371585182RRM2Bc.1050T>G (p.Asp350Glu)
n.437T>G
c.894T>G (p.Asp298Glu)
c.414T>G (p.Asp138Glu)
c.195T>G (p.Asp65Glu)
c.1219T>G
c.383T>G (n.383T>G)
c.888T>G (p.Asp296Glu)
c.1266T>G (p.Asp422Glu)
8g.102208139A>GCA462123651RRM2Bc.1050T>C (p.Asp350=)
n.437T>C
c.894T>C (p.Asp298=)
c.414T>C (p.Asp138=)
c.195T>C (p.Asp65=)
c.1219T>C
c.383T>C (n.383T>C)
c.888T>C (p.Asp296=)
c.1266T>C (p.Asp422=)
 gnomAD v4
8g.102208139A>TCA371585183RRM2Bc.1050T>A (p.Asp350Glu)
n.437T>A
c.894T>A (p.Asp298Glu)
c.414T>A (p.Asp138Glu)
c.195T>A (p.Asp65Glu)
c.1219T>A
c.383T>A (n.383T>A)
c.888T>A (p.Asp296Glu)
c.1266T>A (p.Asp422Glu)
8g.102208140T>ACA371585184RRM2Bc.1049A>T (p.Asp350Val)
n.436A>T
c.893A>T (p.Asp298Val)
c.413A>T (p.Asp138Val)
c.194A>T (p.Asp65Val)
c.1218A>T
c.382A>T (n.382A>T)
c.887A>T (p.Asp296Val)
c.1265A>T (p.Asp422Val)
8g.102208140T>CCA371585185RRM2Bc.1049A>G (p.Asp350Gly)
n.436A>G
c.893A>G (p.Asp298Gly)
c.413A>G (p.Asp138Gly)
c.194A>G (p.Asp65Gly)
c.1218A>G
c.382A>G (n.382A>G)
c.887A>G (p.Asp296Gly)
c.1265A>G (p.Asp422Gly)
8g.102208140T>GCA371585186RRM2Bc.1049A>C (p.Asp350Ala)
n.436A>C
c.893A>C (p.Asp298Ala)
c.413A>C (p.Asp138Ala)
c.194A>C (p.Asp65Ala)
c.1218A>C
c.382A>C (n.382A>C)
c.887A>C (p.Asp296Ala)
c.1265A>C (p.Asp422Ala)
8g.102208141C>ACA371585187RRM2Bc.1048G>T (p.Asp350Tyr)
n.435G>T
c.892G>T (p.Asp298Tyr)
c.412G>T (p.Asp138Tyr)
c.193G>T (p.Asp65Tyr)
c.1217G>T
c.381G>T (n.381G>T)
c.886G>T (p.Asp296Tyr)
c.1264G>T (p.Asp422Tyr)
8g.102208141C>GCA371585188RRM2Bc.1048G>C (p.Asp350His)
n.435G>C
c.892G>C (p.Asp298His)
c.412G>C (p.Asp138His)
c.193G>C (p.Asp65His)
c.1217G>C
c.381G>C (n.381G>C)
c.886G>C (p.Asp296His)
c.1264G>C (p.Asp422His)
8g.102208141C>TCA371585189RRM2Bc.1048G>A (p.Asp350Asn)
n.435G>A
c.892G>A (p.Asp298Asn)
c.412G>A (p.Asp138Asn)
c.193G>A (p.Asp65Asn)
c.1217G>A
c.381G>A (n.381G>A)
c.886G>A (p.Asp296Asn)
c.1264G>A (p.Asp422Asn)
8g.102208142T>ACA462123655RRM2Bc.1047A>T (p.Ala349=)
n.434A>T
c.891A>T (p.Ala297=)
c.411A>T (p.Ala137=)
c.192A>T (p.Ala64=)
c.1216A>T
c.380A>T (n.380A>T)
c.885A>T (p.Ala295=)
c.1263A>T (p.Ala421=)
8g.102208142T>CCA462123657RRM2Bc.1047A>G (p.Ala349=)
n.434A>G
c.891A>G (p.Ala297=)
c.411A>G (p.Ala137=)
c.192A>G (p.Ala64=)
c.1216A>G
c.380A>G (n.380A>G)
c.885A>G (p.Ala295=)
c.1263A>G (p.Ala421=)
8g.102208142T>GCA462123656RRM2Bc.1047A>C (p.Ala349=)
n.434A>C
c.891A>C (p.Ala297=)
c.411A>C (p.Ala137=)
c.192A>C (p.Ala64=)
c.1216A>C
c.380A>C (n.380A>C)
c.885A>C (p.Ala295=)
c.1263A>C (p.Ala421=)
8g.102208143G>ACA371585190RRM2Bc.1046C>T (p.Ala349Val)
n.433C>T
c.890C>T (p.Ala297Val)
c.410C>T (p.Ala137Val)
c.191C>T (p.Ala64Val)
c.1215C>T
c.379C>T (n.379C>T)
c.884C>T (p.Ala295Val)
c.1262C>T (p.Ala421Val)
 COSMIC
8g.102208143G>CCA345627RRM2Bc.1046C>G (p.Ala349Gly)
n.433C>G
c.890C>G (p.Ala297Gly)
c.410C>G (p.Ala137Gly)
c.191C>G (p.Ala64Gly)
c.1215C>G
c.379C>G (n.379C>G)
c.884C>G (p.Ala295Gly)
c.1262C>G (p.Ala421Gly)
 ClinVar dbSNP
8g.102208143G=CA1806674661RRM2Bc.1046C= (p.Ala349=)
n.433C=
c.890C= (p.Ala297=)
c.410C= (p.Ala137=)
c.191C= (p.Ala64=)
c.1215C=
c.379C= (n.379C=)
c.884C= (p.Ala295=)
c.1262C= (p.Ala421=)
8g.102208143G>TCA371585192RRM2Bc.1046C>A (p.Ala349Glu)
n.433C>A
c.890C>A (p.Ala297Glu)
c.410C>A (p.Ala137Glu)
c.191C>A (p.Ala64Glu)
c.1215C>A
c.379C>A (n.379C>A)
c.884C>A (p.Ala295Glu)
c.1262C>A (p.Ala421Glu)
 COSMIC
8g.102208144C>ACA371585194RRM2Bc.1045G>T (p.Ala349Ser)
n.432G>T
c.889G>T (p.Ala297Ser)
c.409G>T (p.Ala137Ser)
c.190G>T (p.Ala64Ser)
c.1214G>T
c.378G>T (n.378G>T)
c.883G>T (p.Ala295Ser)
c.1261G>T (p.Ala421Ser)
8g.102208144C>GCA371585195RRM2Bc.1045G>C (p.Ala349Pro)
n.432G>C
c.889G>C (p.Ala297Pro)
c.409G>C (p.Ala137Pro)
c.190G>C (p.Ala64Pro)
c.1214G>C
c.378G>C (n.378G>C)
c.883G>C (p.Ala295Pro)
c.1261G>C (p.Ala421Pro)
8g.102208144C>TCA371585199RRM2Bc.1045G>A (p.Ala349Thr)
n.432G>A
c.889G>A (p.Ala297Thr)
c.409G>A (p.Ala137Thr)
c.190G>A (p.Ala64Thr)
c.1214G>A
c.378G>A (n.378G>A)
c.883G>A (p.Ala295Thr)
c.1261G>A (p.Ala421Thr)
8g.102208145A>CCA371585202RRM2Bc.1044T>G (p.Asp348Glu)
n.431T>G
c.888T>G (p.Asp296Glu)
c.408T>G (p.Asp136Glu)
c.189T>G (p.Asp63Glu)
c.1213T>G
c.377T>G (n.377T>G)
c.882T>G (p.Asp294Glu)
c.1260T>G (p.Asp420Glu)
 gnomAD v4
8g.102208145A>GCA462123659RRM2Bc.1044T>C (p.Asp348=)
n.431T>C
c.888T>C (p.Asp296=)
c.408T>C (p.Asp136=)
c.189T>C (p.Asp63=)
c.1213T>C
c.377T>C (n.377T>C)
c.882T>C (p.Asp294=)
c.1260T>C (p.Asp420=)
 gnomAD v4
8g.102208145A>TCA371585204RRM2Bc.1044T>A (p.Asp348Glu)
n.431T>A
c.888T>A (p.Asp296Glu)
c.408T>A (p.Asp136Glu)
c.189T>A (p.Asp63Glu)
c.1213T>A
c.377T>A (n.377T>A)
c.882T>A (p.Asp294Glu)
c.1260T>A (p.Asp420Glu)
8g.102208146T>ACA371585206RRM2Bc.1043A>T (p.Asp348Val)
n.430A>T
c.887A>T (p.Asp296Val)
c.407A>T (p.Asp136Val)
c.188A>T (p.Asp63Val)
c.1212A>T
c.376A>T (n.376A>T)
c.881A>T (p.Asp294Val)
c.1259A>T (p.Asp420Val)
8g.102208146T>CCA371585208RRM2Bc.1043A>G (p.Asp348Gly)
n.430A>G
c.887A>G (p.Asp296Gly)
c.407A>G (p.Asp136Gly)
c.188A>G (p.Asp63Gly)
c.1212A>G
c.376A>G (n.376A>G)
c.881A>G (p.Asp294Gly)
c.1259A>G (p.Asp420Gly)
8g.102208146T>GCA371585209RRM2Bc.1043A>C (p.Asp348Ala)
n.430A>C
c.887A>C (p.Asp296Ala)
c.407A>C (p.Asp136Ala)
c.188A>C (p.Asp63Ala)
c.1212A>C
c.376A>C (n.376A>C)
c.881A>C (p.Asp294Ala)
c.1259A>C (p.Asp420Ala)
8g.102208147C>ACA371585210RRM2Bc.1042G>T (p.Asp348Tyr)
n.429G>T
c.886G>T (p.Asp296Tyr)
c.406G>T (p.Asp136Tyr)
c.187G>T (p.Asp63Tyr)
c.1211G>T
c.375G>T (n.375G>T)
c.880G>T (p.Asp294Tyr)
c.1258G>T (p.Asp420Tyr)
8g.102208147C>GCA371585211RRM2Bc.1042G>C (p.Asp348His)
n.429G>C
c.886G>C (p.Asp296His)
c.406G>C (p.Asp136His)
c.187G>C (p.Asp63His)
c.1211G>C
c.375G>C (n.375G>C)
c.880G>C (p.Asp294His)
c.1258G>C (p.Asp420His)
8g.102208147C>TCA371585213RRM2Bc.1042G>A (p.Asp348Asn)
n.429G>A
c.886G>A (p.Asp296Asn)
c.406G>A (p.Asp136Asn)
c.187G>A (p.Asp63Asn)
c.1211G>A
c.375G>A (n.375G>A)
c.880G>A (p.Asp294Asn)
c.1258G>A (p.Asp420Asn)
8g.102208148C>ACA371585215RRM2Bc.1041G>T (p.Leu347Phe)
n.428G>T
c.885G>T (p.Leu295Phe)
c.405G>T (p.Leu135Phe)
c.186G>T (p.Leu62Phe)
c.1210G>T
c.374G>T (n.374G>T)
c.879G>T (p.Leu293Phe)
c.1257G>T (p.Leu419Phe)
8g.102208148C>GCA371585216RRM2Bc.1041G>C (p.Leu347Phe)
n.428G>C
c.885G>C (p.Leu295Phe)
c.405G>C (p.Leu135Phe)
c.186G>C (p.Leu62Phe)
c.1210G>C
c.374G>C (n.374G>C)
c.879G>C (p.Leu293Phe)
c.1257G>C (p.Leu419Phe)
8g.102208148C>TCA462123661RRM2Bc.1041G>A (p.Leu347=)
n.428G>A
c.885G>A (p.Leu295=)
c.405G>A (p.Leu135=)
c.186G>A (p.Leu62=)
c.1210G>A
c.374G>A (n.374G>A)
c.879G>A (p.Leu293=)
c.1257G>A (p.Leu419=)
 gnomAD v4
8g.102208149A>CCA371585222RRM2Bc.1040T>G (p.Leu347Trp)
n.427T>G
c.884T>G (p.Leu295Trp)
c.404T>G (p.Leu135Trp)
c.185T>G (p.Leu62Trp)
c.1209T>G
c.373T>G (n.373T>G)
c.878T>G (p.Leu293Trp)
c.1256T>G (p.Leu419Trp)
 ClinVar
8g.102208149A>GCA371585224RRM2Bc.1040T>C (p.Leu347Ser)
n.427T>C
c.884T>C (p.Leu295Ser)
c.404T>C (p.Leu135Ser)
c.185T>C (p.Leu62Ser)
c.1209T>C
c.373T>C (n.373T>C)
c.878T>C (p.Leu293Ser)
c.1256T>C (p.Leu419Ser)
8g.102208149A>TCA371585226RRM2Bc.1040T>A (p.Leu347Ter)
n.427T>A
c.884T>A (p.Leu295Ter)
c.404T>A (p.Leu135Ter)
c.185T>A (p.Leu62Ter)
c.1209T>A
c.373T>A (n.373T>A)
c.878T>A (p.Leu293Ter)
c.1256T>A (p.Leu419Ter)
8g.102208150A>CCA371585229RRM2Bc.1039T>G (p.Leu347Val)
n.426T>G
c.883T>G (p.Leu295Val)
c.403T>G (p.Leu135Val)
c.184T>G (p.Leu62Val)
c.1208T>G
c.372T>G (n.372T>G)
c.877T>G (p.Leu293Val)
c.1255T>G (p.Leu419Val)
8g.102208150A>GCA462123665RRM2Bc.1039T>C (p.Leu347=)
n.426T>C
c.883T>C (p.Leu295=)
c.403T>C (p.Leu135=)
c.184T>C (p.Leu62=)
c.1208T>C
c.372T>C (n.372T>C)
c.877T>C (p.Leu293=)
c.1255T>C (p.Leu419=)
8g.102208150A>TCA371585228RRM2Bc.1039T>A (p.Leu347Met)
n.426T>A
c.883T>A (p.Leu295Met)
c.403T>A (p.Leu135Met)
c.184T>A (p.Leu62Met)
c.1208T>A
c.372T>A (n.372T>A)
c.877T>A (p.Leu293Met)
c.1255T>A (p.Leu419Met)
8g.102208151G>ACA462123666RRM2Bc.1038C>T (p.Thr346=)
n.425C>T
c.882C>T (p.Thr294=)
c.402C>T (p.Thr134=)
c.183C>T (p.Thr61=)
c.1207C>T
c.371C>T (n.371C>T)
c.876C>T (p.Thr292=)
c.1254C>T (p.Thr418=)
8g.102208151G>CCA462123667RRM2Bc.1038C>G (p.Thr346=)
n.425C>G
c.882C>G (p.Thr294=)
c.402C>G (p.Thr134=)
c.183C>G (p.Thr61=)
c.1207C>G
c.371C>G (n.371C>G)
c.876C>G (p.Thr292=)
c.1254C>G (p.Thr418=)
 dbSNP gnomAD v4
8g.102208151G=CA1806674662RRM2Bc.1038C= (p.Thr346=)
n.425C=
c.882C= (p.Thr294=)
c.402C= (p.Thr134=)
c.183C= (p.Thr61=)
c.1207C=
c.371C= (n.371C=)
c.876C= (p.Thr292=)
c.1254C= (p.Thr418=)
8g.102208151G>TCA462123668RRM2Bc.1038C>A (p.Thr346=)
n.425C>A
c.882C>A (p.Thr294=)
c.402C>A (p.Thr134=)
c.183C>A (p.Thr61=)
c.1207C>A
c.371C>A (n.371C>A)
c.876C>A (p.Thr292=)
c.1254C>A (p.Thr418=)
8g.102208152G>ACA371585231RRM2Bc.1037C>T (p.Thr346Ile)
n.424C>T
c.881C>T (p.Thr294Ile)
c.401C>T (p.Thr134Ile)
c.182C>T (p.Thr61Ile)
c.1206C>T
c.370C>T (n.370C>T)
c.875C>T (p.Thr292Ile)
c.1253C>T (p.Thr418Ile)
 gnomAD v4
8g.102208152G>CCA371585233RRM2Bc.1037C>G (p.Thr346Ser)
n.424C>G
c.881C>G (p.Thr294Ser)
c.401C>G (p.Thr134Ser)
c.182C>G (p.Thr61Ser)
c.1206C>G
c.370C>G (n.370C>G)
c.875C>G (p.Thr292Ser)
c.1253C>G (p.Thr418Ser)
8g.102208152G>TCA371585235RRM2Bc.1037C>A (p.Thr346Asn)
n.424C>A
c.881C>A (p.Thr294Asn)
c.401C>A (p.Thr134Asn)
c.182C>A (p.Thr61Asn)
c.1206C>A
c.370C>A (n.370C>A)
c.875C>A (p.Thr292Asn)
c.1253C>A (p.Thr418Asn)
8g.102208153T>ACA371585238RRM2Bc.1036A>T (p.Thr346Ser)
n.423A>T
c.880A>T (p.Thr294Ser)
c.400A>T (p.Thr134Ser)
c.181A>T (p.Thr61Ser)
c.1205A>T
c.369A>T (n.369A>T)
c.874A>T (p.Thr292Ser)
c.1252A>T (p.Thr418Ser)
8g.102208153T>CCA371585239RRM2Bc.1036A>G (p.Thr346Ala)
n.423A>G
c.880A>G (p.Thr294Ala)
c.400A>G (p.Thr134Ala)
c.181A>G (p.Thr61Ala)
c.1205A>G
c.369A>G (n.369A>G)
c.874A>G (p.Thr292Ala)
c.1252A>G (p.Thr418Ala)
8g.102208153T>GCA371585241RRM2Bc.1036A>C (p.Thr346Pro)
n.423A>C
c.880A>C (p.Thr294Pro)
c.400A>C (p.Thr134Pro)
c.181A>C (p.Thr61Pro)
c.1205A>C
c.369A>C (n.369A>C)
c.874A>C (p.Thr292Pro)
c.1252A>C (p.Thr418Pro)
8g.102208154G>ACA4830956RRM2Bc.1035C>T (p.Phe345=)
n.422C>T
c.879C>T (p.Phe293=)
c.399C>T (p.Phe133=)
c.180C>T (p.Phe60=)
c.1204C>T
c.368C>T (n.368C>T)
c.873C>T (p.Phe291=)
c.1251C>T (p.Phe417=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.102208154G>CCA371585244RRM2Bc.1035C>G (p.Phe345Leu)
n.422C>G
c.879C>G (p.Phe293Leu)
c.399C>G (p.Phe133Leu)
c.180C>G (p.Phe60Leu)
c.1204C>G
c.368C>G (n.368C>G)
c.873C>G (p.Phe291Leu)
c.1251C>G (p.Phe417Leu)
8g.102208154G=CA1806674663RRM2Bc.1035C= (p.Phe345=)
n.422C=
c.879C= (p.Phe293=)
c.399C= (p.Phe133=)
c.180C= (p.Phe60=)
c.1204C=
c.368C= (n.368C=)
c.873C= (p.Phe291=)
c.1251C= (p.Phe417=)
8g.102208154G>TCA371585246RRM2Bc.1035C>A (p.Phe345Leu)
n.422C>A
c.879C>A (p.Phe293Leu)
c.399C>A (p.Phe133Leu)
c.180C>A (p.Phe60Leu)
c.1204C>A
c.368C>A (n.368C>A)
c.873C>A (p.Phe291Leu)
c.1251C>A (p.Phe417Leu)
8g.102208155A>CCA371585249RRM2Bc.1034T>G (p.Phe345Cys)
n.421T>G
c.878T>G (p.Phe293Cys)
c.398T>G (p.Phe133Cys)
c.179T>G (p.Phe60Cys)
c.1203T>G
c.367T>G (n.367T>G)
c.872T>G (p.Phe291Cys)
c.1250T>G (p.Phe417Cys)
8g.102208155A>GCA371585251RRM2Bc.1034T>C (p.Phe345Ser)
n.421T>C
c.878T>C (p.Phe293Ser)
c.398T>C (p.Phe133Ser)
c.179T>C (p.Phe60Ser)
c.1203T>C
c.367T>C (n.367T>C)
c.872T>C (p.Phe291Ser)
c.1250T>C (p.Phe417Ser)
8g.102208155A>TCA371585253RRM2Bc.1034T>A (p.Phe345Tyr)
n.421T>A
c.878T>A (p.Phe293Tyr)
c.398T>A (p.Phe133Tyr)
c.179T>A (p.Phe60Tyr)
c.1203T>A
c.367T>A (n.367T>A)
c.872T>A (p.Phe291Tyr)
c.1250T>A (p.Phe417Tyr)
8g.102208156A>CCA371585259RRM2Bc.1033T>G (p.Phe345Val)
n.420T>G
c.877T>G (p.Phe293Val)
c.397T>G (p.Phe133Val)
c.178T>G (p.Phe60Val)
c.1202T>G
c.366T>G (n.366T>G)
c.871T>G (p.Phe291Val)
c.1249T>G (p.Phe417Val)
8g.102208156A>GCA371585256RRM2Bc.1033T>C (p.Phe345Leu)
n.420T>C
c.877T>C (p.Phe293Leu)
c.397T>C (p.Phe133Leu)
c.178T>C (p.Phe60Leu)
c.1202T>C
c.366T>C (n.366T>C)
c.871T>C (p.Phe291Leu)
c.1249T>C (p.Phe417Leu)
8g.102208156A>TCA371585257RRM2Bc.1033T>A (p.Phe345Ile)
n.420T>A
c.877T>A (p.Phe293Ile)
c.397T>A (p.Phe133Ile)
c.178T>A (p.Phe60Ile)
c.1202T>A
c.366T>A (n.366T>A)
c.871T>A (p.Phe291Ile)
c.1249T>A (p.Phe417Ile)
8g.102208157G>ACA462123670RRM2Bc.1032C>T (p.Val344=)
n.419C>T
c.876C>T (p.Val292=)
c.396C>T (p.Val132=)
c.177C>T (p.Val59=)
c.1201C>T
c.365C>T (n.365C>T)
c.870C>T (p.Val290=)
c.1248C>T (p.Val416=)
8g.102208157G>CCA462123671RRM2Bc.1032C>G (p.Val344=)
n.419C>G
c.876C>G (p.Val292=)
c.396C>G (p.Val132=)
c.177C>G (p.Val59=)
c.1201C>G
c.365C>G (n.365C>G)
c.870C>G (p.Val290=)
c.1248C>G (p.Val416=)
8g.102208157G>TCA462123672RRM2Bc.1032C>A (p.Val344=)
n.419C>A
c.876C>A (p.Val292=)
c.396C>A (p.Val132=)
c.177C>A (p.Val59=)
c.1201C>A
c.365C>A (n.365C>A)
c.870C>A (p.Val290=)
c.1248C>A (p.Val416=)
8g.102208158A=CA1806674664RRM2Bc.1031T= (p.Val344=)
n.418T=
c.875T= (p.Val292=)
c.395T= (p.Val132=)
c.176T= (p.Val59=)
c.1200T=
c.364T= (n.364T=)
c.869T= (p.Val290=)
c.1247T= (p.Val416=)
8g.102208158A>CCA371585261RRM2Bc.1031T>G (p.Val344Gly)
n.418T>G
c.875T>G (p.Val292Gly)
c.395T>G (p.Val132Gly)
c.176T>G (p.Val59Gly)
c.1200T>G
c.364T>G (n.364T>G)
c.869T>G (p.Val290Gly)
c.1247T>G (p.Val416Gly)
8g.102208158A>GCA371585264RRM2Bc.1031T>C (p.Val344Ala)
n.418T>C
c.875T>C (p.Val292Ala)
c.395T>C (p.Val132Ala)
c.176T>C (p.Val59Ala)
c.1200T>C
c.364T>C (n.364T>C)
c.869T>C (p.Val290Ala)
c.1247T>C (p.Val416Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.102208158A>TCA371585267RRM2Bc.1031T>A (p.Val344Asp)
n.418T>A
c.875T>A (p.Val292Asp)
c.395T>A (p.Val132Asp)
c.176T>A (p.Val59Asp)
c.1200T>A
c.364T>A (n.364T>A)
c.869T>A (p.Val290Asp)
c.1247T>A (p.Val416Asp)
8g.102208159C>ACA371585268RRM2Bc.1030G>T (p.Val344Phe)
n.417G>T
c.874G>T (p.Val292Phe)
c.394G>T (p.Val132Phe)
c.175G>T (p.Val59Phe)
c.1199G>T
c.363G>T (n.363G>T)
c.868G>T (p.Val290Phe)
c.1246G>T (p.Val416Phe)
8g.102208159C=CA1806674665RRM2Bc.1030G= (p.Val344=)
n.417G=
c.874G= (p.Val292=)
c.394G= (p.Val132=)
c.175G= (p.Val59=)
c.1199G=
c.363G= (n.363G=)
c.868G= (p.Val290=)
c.1246G= (p.Val416=)
8g.102208159C>GCA371585270RRM2Bc.1030G>C (p.Val344Leu)
n.417G>C
c.874G>C (p.Val292Leu)
c.394G>C (p.Val132Leu)
c.175G>C (p.Val59Leu)
c.1199G>C
c.363G>C (n.363G>C)
c.868G>C (p.Val290Leu)
c.1246G>C (p.Val416Leu)
8g.102208159C>TCA4830957RRM2Bc.1030G>A (p.Val344Ile)
n.417G>A
c.874G>A (p.Val292Ile)
c.394G>A (p.Val132Ile)
c.175G>A (p.Val59Ile)
c.1199G>A
c.363G>A (n.363G>A)
c.868G>A (p.Val290Ile)
c.1246G>A (p.Val416Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.102208160G>ACA4830958RRM2Bc.1029C>T (p.Asn343=)
n.416C>T
c.873C>T (p.Asn291=)
c.393C>T (p.Asn131=)
c.174C>T (p.Asn58=)
c.1198C>T
c.362C>T (n.362C>T)
c.867C>T (p.Asn289=)
c.1245C>T (p.Asn415=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.102208160G>CCA371585273RRM2Bc.1029C>G (p.Asn343Lys)
n.416C>G
c.873C>G (p.Asn291Lys)
c.393C>G (p.Asn131Lys)
c.174C>G (p.Asn58Lys)
c.1198C>G
c.362C>G (n.362C>G)
c.867C>G (p.Asn289Lys)
c.1245C>G (p.Asn415Lys)
8g.102208160G=CA1806674666RRM2Bc.1029C= (p.Asn343=)
n.416C=
c.873C= (p.Asn291=)
c.393C= (p.Asn131=)
c.174C= (p.Asn58=)
c.1198C=
c.362C= (n.362C=)
c.867C= (p.Asn289=)
c.1245C= (p.Asn415=)
8g.102208160G>TCA371585274RRM2Bc.1029C>A (p.Asn343Lys)
n.416C>A
c.873C>A (p.Asn291Lys)
c.393C>A (p.Asn131Lys)
c.174C>A (p.Asn58Lys)
c.1198C>A
c.362C>A (n.362C>A)
c.867C>A (p.Asn289Lys)
c.1245C>A (p.Asn415Lys)
 dbSNP gnomAD v3 gnomAD v4
8g.102208161T>ACA371585277RRM2Bc.1028A>T (p.Asn343Ile)
n.415A>T
c.872A>T (p.Asn291Ile)
c.392A>T (p.Asn131Ile)
c.173A>T (p.Asn58Ile)
c.1197A>T
c.361A>T (n.361A>T)
c.866A>T (p.Asn289Ile)
c.1244A>T (p.Asn415Ile)
 ClinVar gnomAD v4
8g.102208161T>CCA371585280RRM2Bc.1028A>G (p.Asn343Ser)
n.415A>G
c.872A>G (p.Asn291Ser)
c.392A>G (p.Asn131Ser)
c.173A>G (p.Asn58Ser)
c.1197A>G
c.361A>G (n.361A>G)
c.866A>G (p.Asn289Ser)
c.1244A>G (p.Asn415Ser)
8g.102208161T>GCA371585282RRM2Bc.1028A>C (p.Asn343Thr)
n.415A>C
c.872A>C (p.Asn291Thr)
c.392A>C (p.Asn131Thr)
c.173A>C (p.Asn58Thr)
c.1197A>C
c.361A>C (n.361A>C)
c.866A>C (p.Asn289Thr)
c.1244A>C (p.Asn415Thr)
8g.102208162T>ACA371585291RRM2Bc.1027A>T (p.Asn343Tyr)
n.414A>T
c.871A>T (p.Asn291Tyr)
c.391A>T (p.Asn131Tyr)
c.172A>T (p.Asn58Tyr)
c.1196A>T
c.360A>T (n.360A>T)
c.865A>T (p.Asn289Tyr)
c.1243A>T (p.Asn415Tyr)
8g.102208162T>CCA371585294RRM2Bc.1027A>G (p.Asn343Asp)
n.414A>G
c.871A>G (p.Asn291Asp)
c.391A>G (p.Asn131Asp)
c.172A>G (p.Asn58Asp)
c.1196A>G
c.360A>G (n.360A>G)
c.865A>G (p.Asn289Asp)
c.1243A>G (p.Asn415Asp)
8g.102208162T>GCA371585286RRM2Bc.1027A>C (p.Asn343His)
n.414A>C
c.871A>C (p.Asn291His)
c.391A>C (p.Asn131His)
c.172A>C (p.Asn58His)
c.1196A>C
c.360A>C (n.360A>C)
c.865A>C (p.Asn289His)
c.1243A>C (p.Asn415His)

Number of alleles fetched