Chr Mutation (hg38) CAid Gene Transcript Linkouts
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>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)

Number of alleles fetched