| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.102208172T>A | CA371585382 | RRM2B | c.1017A>T (p.Glu339Asp) n.404A>T c.861A>T (p.Glu287Asp) c.381A>T (p.Glu127Asp) c.162A>T (p.Glu54Asp) c.1186A>T c.350A>T (n.350A>T) c.855A>T (p.Glu285Asp) c.1233A>T (p.Glu411Asp) | |
| 8 | g.102208172T>C | CA462123683 | RRM2B | c.1017A>G (p.Glu339=) n.404A>G c.861A>G (p.Glu287=) c.381A>G (p.Glu127=) c.162A>G (p.Glu54=) c.1186A>G c.350A>G (n.350A>G) c.855A>G (p.Glu285=) c.1233A>G (p.Glu411=) | |
| 8 | g.102208172T>G | CA371585384 | RRM2B | c.1017A>C (p.Glu339Asp) n.404A>C c.861A>C (p.Glu287Asp) c.381A>C (p.Glu127Asp) c.162A>C (p.Glu54Asp) c.1186A>C c.350A>C (n.350A>C) c.855A>C (p.Glu285Asp) c.1233A>C (p.Glu411Asp) | gnomAD v4 |
| 8 | g.102208173T>A | CA371585386 | RRM2B | c.1016A>T (p.Glu339Val) n.403A>T c.860A>T (p.Glu287Val) c.380A>T (p.Glu127Val) c.161A>T (p.Glu54Val) c.1185A>T c.349A>T (n.349A>T) c.854A>T (p.Glu285Val) c.1232A>T (p.Glu411Val) | |
| 8 | g.102208173T>C | CA371585393 | RRM2B | c.1016A>G (p.Glu339Gly) n.403A>G c.860A>G (p.Glu287Gly) c.380A>G (p.Glu127Gly) c.161A>G (p.Glu54Gly) c.1185A>G c.349A>G (n.349A>G) c.854A>G (p.Glu285Gly) c.1232A>G (p.Glu411Gly) | |
| 8 | g.102208173T>G | CA371585396 | RRM2B | c.1016A>C (p.Glu339Ala) n.403A>C c.860A>C (p.Glu287Ala) c.380A>C (p.Glu127Ala) c.161A>C (p.Glu54Ala) c.1185A>C c.349A>C (n.349A>C) c.854A>C (p.Glu285Ala) c.1232A>C (p.Glu411Ala) | |
| 8 | g.102208174C>A | CA371585399 | RRM2B | c.1015G>T (p.Glu339Ter) n.402G>T c.859G>T (p.Glu287Ter) c.379G>T (p.Glu127Ter) c.160G>T (p.Glu54Ter) c.1184G>T c.348G>T (n.348G>T) c.853G>T (p.Glu285Ter) c.1231G>T (p.Glu411Ter) | |
| 8 | g.102208174C>G | CA371585411 | RRM2B | c.1015G>C (p.Glu339Gln) n.402G>C c.859G>C (p.Glu287Gln) c.379G>C (p.Glu127Gln) c.160G>C (p.Glu54Gln) c.1184G>C c.348G>C (n.348G>C) c.853G>C (p.Glu285Gln) c.1231G>C (p.Glu411Gln) | |
| 8 | g.102208174C>T | CA371585414 | RRM2B | c.1015G>A (p.Glu339Lys) n.402G>A c.859G>A (p.Glu287Lys) c.379G>A (p.Glu127Lys) c.160G>A (p.Glu54Lys) c.1184G>A c.348G>A (n.348G>A) c.853G>A (p.Glu285Lys) c.1231G>A (p.Glu411Lys) | gnomAD v4 |
| 8 | g.102208175T>A | CA462123684 | RRM2B | c.1014A>T (p.Ala338=) n.401A>T c.858A>T (p.Ala286=) c.378A>T (p.Ala126=) c.159A>T (p.Ala53=) c.1183A>T c.347A>T (n.347A>T) c.852A>T (p.Ala284=) c.1230A>T (p.Ala410=) | |
| 8 | g.102208175T>C | CA462123685 | RRM2B | c.1014A>G (p.Ala338=) n.401A>G c.858A>G (p.Ala286=) c.378A>G (p.Ala126=) c.159A>G (p.Ala53=) c.1183A>G c.347A>G (n.347A>G) c.852A>G (p.Ala284=) c.1230A>G (p.Ala410=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102208175T>G | CA462123686 | RRM2B | c.1014A>C (p.Ala338=) n.401A>C c.858A>C (p.Ala286=) c.378A>C (p.Ala126=) c.159A>C (p.Ala53=) c.1183A>C c.347A>C (n.347A>C) c.852A>C (p.Ala284=) c.1230A>C (p.Ala410=) | |
| 8 | g.102208175T= | CA1806674669 | RRM2B | c.1014A= (p.Ala338=) n.401A= c.858A= (p.Ala286=) c.378A= (p.Ala126=) c.159A= (p.Ala53=) c.1183A= c.347A= (n.347A=) c.852A= (p.Ala284=) c.1230A= (p.Ala410=) | |
| 8 | g.102208176G>A | CA371585421 | RRM2B | c.1013C>T (p.Ala338Val) n.400C>T c.857C>T (p.Ala286Val) c.377C>T (p.Ala126Val) c.158C>T (p.Ala53Val) c.1182C>T c.346C>T (n.346C>T) c.851C>T (p.Ala284Val) c.1229C>T (p.Ala410Val) | gnomAD v4 |
| 8 | g.102208176G>C | CA371585416 | RRM2B | c.1013C>G (p.Ala338Gly) n.400C>G c.857C>G (p.Ala286Gly) c.377C>G (p.Ala126Gly) c.158C>G (p.Ala53Gly) c.1182C>G c.346C>G (n.346C>G) c.851C>G (p.Ala284Gly) c.1229C>G (p.Ala410Gly) | |
| 8 | g.102208176G>T | CA371585415 | RRM2B | c.1013C>A (p.Ala338Glu) n.400C>A c.857C>A (p.Ala286Glu) c.377C>A (p.Ala126Glu) c.158C>A (p.Ala53Glu) c.1182C>A c.346C>A (n.346C>A) c.851C>A (p.Ala284Glu) c.1229C>A (p.Ala410Glu) | |
| 8 | g.102208177C>A | CA371585425 | RRM2B | c.1012G>T (p.Ala338Ser) n.399G>T c.856G>T (p.Ala286Ser) c.376G>T (p.Ala126Ser) c.157G>T (p.Ala53Ser) c.1181G>T c.345G>T (n.345G>T) c.850G>T (p.Ala284Ser) c.1228G>T (p.Ala410Ser) | |
| 8 | g.102208177C= | CA1806674670 | RRM2B | c.1012G= (p.Ala338=) n.399G= c.856G= (p.Ala286=) c.376G= (p.Ala126=) c.157G= (p.Ala53=) c.1181G= c.345G= (n.345G=) c.850G= (p.Ala284=) c.1228G= (p.Ala410=) | |
| 8 | g.102208177C>G | CA371585427 | RRM2B | c.1012G>C (p.Ala338Pro) n.399G>C c.856G>C (p.Ala286Pro) c.376G>C (p.Ala126Pro) c.157G>C (p.Ala53Pro) c.1181G>C c.345G>C (n.345G>C) c.850G>C (p.Ala284Pro) c.1228G>C (p.Ala410Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.102208177C>T | CA371585429 | RRM2B | c.1012G>A (p.Ala338Thr) n.399G>A c.856G>A (p.Ala286Thr) c.376G>A (p.Ala126Thr) c.157G>A (p.Ala53Thr) c.1181G>A c.345G>A (n.345G>A) c.850G>A (p.Ala284Thr) c.1228G>A (p.Ala410Thr) | |
| 8 | g.102208178del | CA2579221158 | RRM2B | c.1012del (p.Ala338GlnfsTer30) n.399del c.856del (p.Ala286GlnfsTer?) c.376del (p.Ala126GlnfsTer?) c.157del (p.Ala53GlnfsTer?) c.1181del c.345del (n.345del) c.850del (p.Ala284GlnfsTer30) c.1228del (p.Ala410GlnfsTer30) c.856del (p.Ala286GlnfsTer30) | |
| 8 | g.102208178C>A | CA371585434 | RRM2B | c.1011G>T (p.Met337Ile) n.398G>T c.855G>T (p.Met285Ile) c.375G>T (p.Met125Ile) c.156G>T (p.Met52Ile) c.1180G>T c.344G>T (n.344G>T) c.849G>T (p.Met283Ile) c.1227G>T (p.Met409Ile) | |
| 8 | g.102208178C>G | CA371585440 | RRM2B | c.1011G>C (p.Met337Ile) n.398G>C c.855G>C (p.Met285Ile) c.375G>C (p.Met125Ile) c.156G>C (p.Met52Ile) c.1180G>C c.344G>C (n.344G>C) c.849G>C (p.Met283Ile) c.1227G>C (p.Met409Ile) | |
| 8 | g.102208178C>T | CA371585445 | RRM2B | c.1011G>A (p.Met337Ile) n.398G>A c.855G>A (p.Met285Ile) c.375G>A (p.Met125Ile) c.156G>A (p.Met52Ile) c.1180G>A c.344G>A (n.344G>A) c.849G>A (p.Met283Ile) c.1227G>A (p.Met409Ile) | |
| 8 | g.102208179A= | CA1806674671 | RRM2B | c.1010T= (p.Met337=) n.397T= c.854T= (p.Met285=) c.374T= (p.Met125=) c.155T= (p.Met52=) c.1179T= c.343T= (n.343T=) c.848T= (p.Met283=) c.1226T= (p.Met409=) | |
| 8 | g.102208179A>C | CA371585446 | RRM2B | c.1010T>G (p.Met337Arg) n.397T>G c.854T>G (p.Met285Arg) c.374T>G (p.Met125Arg) c.155T>G (p.Met52Arg) c.1179T>G c.343T>G (n.343T>G) c.848T>G (p.Met283Arg) c.1226T>G (p.Met409Arg) | |
| 8 | g.102208179A>G | CA371585447 | RRM2B | c.1010T>C (p.Met337Thr) n.397T>C c.854T>C (p.Met285Thr) c.374T>C (p.Met125Thr) c.155T>C (p.Met52Thr) c.1179T>C c.343T>C (n.343T>C) c.848T>C (p.Met283Thr) c.1226T>C (p.Met409Thr) | gnomAD v4 |
| 8 | g.102208179A>T | CA371585448 | RRM2B | c.1010T>A (p.Met337Lys) n.397T>A c.854T>A (p.Met285Lys) c.374T>A (p.Met125Lys) c.155T>A (p.Met52Lys) c.1179T>A c.343T>A (n.343T>A) c.848T>A (p.Met283Lys) c.1226T>A (p.Met409Lys) | ClinVar dbSNP |
| 8 | g.102208180T>A | CA371585451 | RRM2B | c.1009A>T (p.Met337Leu) n.396A>T c.853A>T (p.Met285Leu) c.373A>T (p.Met125Leu) c.154A>T (p.Met52Leu) c.1178A>T c.342A>T (n.342A>T) c.847A>T (p.Met283Leu) c.1225A>T (p.Met409Leu) | |
| 8 | g.102208180T>C | CA371585452 | RRM2B | c.1009A>G (p.Met337Val) n.396A>G c.853A>G (p.Met285Val) c.373A>G (p.Met125Val) c.154A>G (p.Met52Val) c.1178A>G c.342A>G (n.342A>G) c.847A>G (p.Met283Val) c.1225A>G (p.Met409Val) | |
| 8 | g.102208180T>G | CA371585453 | RRM2B | c.1009A>C (p.Met337Leu) n.396A>C c.853A>C (p.Met285Leu) c.373A>C (p.Met125Leu) c.154A>C (p.Met52Leu) c.1178A>C c.342A>C (n.342A>C) c.847A>C (p.Met283Leu) c.1225A>C (p.Met409Leu) | |
| 8 | g.102208181A>C | CA462123687 | RRM2B | c.1008T>G (p.Val336=) n.395T>G c.852T>G (p.Val284=) c.372T>G (p.Val124=) c.153T>G (p.Val51=) c.1177T>G c.341T>G (n.341T>G) c.846T>G (p.Val282=) c.1224T>G (p.Val408=) | |
| 8 | g.102208181A>G | CA462123688 | RRM2B | c.1008T>C (p.Val336=) n.395T>C c.852T>C (p.Val284=) c.372T>C (p.Val124=) c.153T>C (p.Val51=) c.1177T>C c.341T>C (n.341T>C) c.846T>C (p.Val282=) c.1224T>C (p.Val408=) | |
| 8 | g.102208181A>T | CA462123689 | RRM2B | c.1008T>A (p.Val336=) n.395T>A c.852T>A (p.Val284=) c.372T>A (p.Val124=) c.153T>A (p.Val51=) c.1177T>A c.341T>A (n.341T>A) c.846T>A (p.Val282=) c.1224T>A (p.Val408=) | |
| 8 | g.102208182A>C | CA371585458 | RRM2B | c.1007T>G (p.Val336Gly) n.394T>G c.851T>G (p.Val284Gly) c.371T>G (p.Val124Gly) c.152T>G (p.Val51Gly) c.1176T>G c.340T>G (n.340T>G) c.845T>G (p.Val282Gly) c.1223T>G (p.Val408Gly) | |
| 8 | g.102208182A>G | CA371585464 | RRM2B | c.1007T>C (p.Val336Ala) n.394T>C c.851T>C (p.Val284Ala) c.371T>C (p.Val124Ala) c.152T>C (p.Val51Ala) c.1176T>C c.340T>C (n.340T>C) c.845T>C (p.Val282Ala) c.1223T>C (p.Val408Ala) | |
| 8 | g.102208182A>T | CA371585454 | RRM2B | c.1007T>A (p.Val336Asp) n.394T>A c.851T>A (p.Val284Asp) c.371T>A (p.Val124Asp) c.152T>A (p.Val51Asp) c.1176T>A c.340T>A (n.340T>A) c.845T>A (p.Val282Asp) c.1223T>A (p.Val408Asp) | |
| 8 | g.102208183C>A | CA371585467 | RRM2B | c.1006G>T (p.Val336Phe) n.393G>T c.850G>T (p.Val284Phe) c.370G>T (p.Val124Phe) c.151G>T (p.Val51Phe) c.1175G>T c.339G>T (n.339G>T) c.844G>T (p.Val282Phe) c.1222G>T (p.Val408Phe) | |
| 8 | g.102208183C= | CA1806674672 | RRM2B | c.1006G= (p.Val336=) n.393G= c.850G= (p.Val284=) c.370G= (p.Val124=) c.151G= (p.Val51=) c.1175G= c.339G= (n.339G=) c.844G= (p.Val282=) c.1222G= (p.Val408=) | |
| 8 | g.102208183C>G | CA371585471 | RRM2B | c.1006G>C (p.Val336Leu) n.393G>C c.850G>C (p.Val284Leu) c.370G>C (p.Val124Leu) c.151G>C (p.Val51Leu) c.1175G>C c.339G>C (n.339G>C) c.844G>C (p.Val282Leu) c.1222G>C (p.Val408Leu) | |
| 8 | g.102208183C>T | CA371585473 | RRM2B | c.1006G>A (p.Val336Ile) n.393G>A c.850G>A (p.Val284Ile) c.370G>A (p.Val124Ile) c.151G>A (p.Val51Ile) c.1175G>A c.339G>A (n.339G>A) c.844G>A (p.Val282Ile) c.1222G>A (p.Val408Ile) | dbSNP |
| 8 | g.102208184T>A | CA462123693 | RRM2B | c.1005A>T (p.Ala335=) n.392A>T c.849A>T (p.Ala283=) c.369A>T (p.Ala123=) c.150A>T (p.Ala50=) c.1174A>T c.338A>T (n.338A>T) c.843A>T (p.Ala281=) c.1221A>T (p.Ala407=) | |
| 8 | g.102208184T>C | CA462123692 | RRM2B | c.1005A>G (p.Ala335=) n.392A>G c.849A>G (p.Ala283=) c.369A>G (p.Ala123=) c.150A>G (p.Ala50=) c.1174A>G c.338A>G (n.338A>G) c.843A>G (p.Ala281=) c.1221A>G (p.Ala407=) | gnomAD v4 |
| 8 | g.102208184T>G | CA462123691 | RRM2B | c.1005A>C (p.Ala335=) n.392A>C c.849A>C (p.Ala283=) c.369A>C (p.Ala123=) c.150A>C (p.Ala50=) c.1174A>C c.338A>C (n.338A>C) c.843A>C (p.Ala281=) c.1221A>C (p.Ala407=) | |
| 8 | g.102208185G>A | CA371585479 | RRM2B | c.1004C>T (p.Ala335Val) n.391C>T c.848C>T (p.Ala283Val) c.368C>T (p.Ala123Val) c.149C>T (p.Ala50Val) c.1173C>T c.337C>T (n.337C>T) c.842C>T (p.Ala281Val) c.1220C>T (p.Ala407Val) | |
| 8 | g.102208185G>C | CA371585482 | RRM2B | c.1004C>G (p.Ala335Gly) n.391C>G c.848C>G (p.Ala283Gly) c.368C>G (p.Ala123Gly) c.149C>G (p.Ala50Gly) c.1173C>G c.337C>G (n.337C>G) c.842C>G (p.Ala281Gly) c.1220C>G (p.Ala407Gly) | |
| 8 | g.102208185G>T | CA371585489 | RRM2B | c.1004C>A (p.Ala335Glu) n.391C>A c.848C>A (p.Ala283Glu) c.368C>A (p.Ala123Glu) c.149C>A (p.Ala50Glu) c.1173C>A c.337C>A (n.337C>A) c.842C>A (p.Ala281Glu) c.1220C>A (p.Ala407Glu) | |
| 8 | g.102208186C>A | CA371585497 | RRM2B | c.1003G>T (p.Ala335Ser) n.390G>T c.847G>T (p.Ala283Ser) c.367G>T (p.Ala123Ser) c.148G>T (p.Ala50Ser) c.1172G>T c.336G>T (n.336G>T) c.841G>T (p.Ala281Ser) c.1219G>T (p.Ala407Ser) | dbSNP gnomAD v3 |
| 8 | g.102208186C>G | CA371585507 | RRM2B | c.1003G>C (p.Ala335Pro) n.390G>C c.847G>C (p.Ala283Pro) c.367G>C (p.Ala123Pro) c.148G>C (p.Ala50Pro) c.1172G>C c.336G>C (n.336G>C) c.841G>C (p.Ala281Pro) c.1219G>C (p.Ala407Pro) | |
| 8 | g.102208186C>T | CA371585504 | RRM2B | c.1003G>A (p.Ala335Thr) n.390G>A c.847G>A (p.Ala283Thr) c.367G>A (p.Ala123Thr) c.148G>A (p.Ala50Thr) c.1172G>A c.336G>A (n.336G>A) c.841G>A (p.Ala281Thr) c.1219G>A (p.Ala407Thr) | |
| 8 | g.102208187A>C | CA371585512 | RRM2B | c.1002T>G (p.Phe334Leu) n.389T>G c.846T>G (p.Phe282Leu) c.366T>G (p.Phe122Leu) c.147T>G (p.Phe49Leu) c.1171T>G c.335T>G (n.335T>G) c.840T>G (p.Phe280Leu) c.1218T>G (p.Phe406Leu) | |
| 8 | g.102208187A>G | CA462123714 | RRM2B | c.1002T>C (p.Phe334=) n.389T>C c.846T>C (p.Phe282=) c.366T>C (p.Phe122=) c.147T>C (p.Phe49=) c.1171T>C c.335T>C (n.335T>C) c.840T>C (p.Phe280=) c.1218T>C (p.Phe406=) | |
| 8 | g.102208187A>T | CA371585519 | RRM2B | c.1002T>A (p.Phe334Leu) n.389T>A c.846T>A (p.Phe282Leu) c.366T>A (p.Phe122Leu) c.147T>A (p.Phe49Leu) c.1171T>A c.335T>A (n.335T>A) c.840T>A (p.Phe280Leu) c.1218T>A (p.Phe406Leu) | |
| 8 | g.102208188A>C | CA371585523 | RRM2B | c.1001T>G (p.Phe334Cys) n.388T>G c.845T>G (p.Phe282Cys) c.365T>G (p.Phe122Cys) c.146T>G (p.Phe49Cys) c.1170T>G c.334T>G (n.334T>G) c.839T>G (p.Phe280Cys) c.1217T>G (p.Phe406Cys) | gnomAD v4 |
| 8 | g.102208188A>G | CA371585525 | RRM2B | c.1001T>C (p.Phe334Ser) n.388T>C c.845T>C (p.Phe282Ser) c.365T>C (p.Phe122Ser) c.146T>C (p.Phe49Ser) c.1170T>C c.334T>C (n.334T>C) c.839T>C (p.Phe280Ser) c.1217T>C (p.Phe406Ser) | |
| 8 | g.102208188A>T | CA371585534 | RRM2B | c.1001T>A (p.Phe334Tyr) n.388T>A c.845T>A (p.Phe282Tyr) c.365T>A (p.Phe122Tyr) c.146T>A (p.Phe49Tyr) c.1170T>A c.334T>A (n.334T>A) c.839T>A (p.Phe280Tyr) c.1217T>A (p.Phe406Tyr) | |
| 8 | g.102208189A>C | CA371585555 | RRM2B | c.1000T>G (p.Phe334Val) n.387T>G c.844T>G (p.Phe282Val) c.364T>G (p.Phe122Val) c.145T>G (p.Phe49Val) c.1169T>G c.333T>G (n.333T>G) c.838T>G (p.Phe280Val) c.1216T>G (p.Phe406Val) | |
| 8 | g.102208189A>G | CA371585550 | RRM2B | c.1000T>C (p.Phe334Leu) n.387T>C c.844T>C (p.Phe282Leu) c.364T>C (p.Phe122Leu) c.145T>C (p.Phe49Leu) c.1169T>C c.333T>C (n.333T>C) c.838T>C (p.Phe280Leu) c.1216T>C (p.Phe406Leu) | |
| 8 | g.102208189A>T | CA371585546 | RRM2B | c.1000T>A (p.Phe334Ile) n.387T>A c.844T>A (p.Phe282Ile) c.364T>A (p.Phe122Ile) c.145T>A (p.Phe49Ile) c.1169T>A c.333T>A (n.333T>A) c.838T>A (p.Phe280Ile) c.1216T>A (p.Phe406Ile) | |
| 8 | g.102208190A= | CA1806674673 | RRM2B | c.999T= (p.Arg333=) n.386T= c.843T= (p.Arg281=) c.363T= (p.Arg121=) c.144T= (p.Arg48=) c.1168T= c.332T= (n.332T=) c.837T= (p.Arg279=) c.1215T= (p.Arg405=) | |
| 8 | g.102208190A>C | CA462123718 | RRM2B | c.999T>G (p.Arg333=) n.386T>G c.843T>G (p.Arg281=) c.363T>G (p.Arg121=) c.144T>G (p.Arg48=) c.1168T>G c.332T>G (n.332T>G) c.837T>G (p.Arg279=) c.1215T>G (p.Arg405=) | |
| 8 | g.102208190A>G | CA462123719 | RRM2B | c.999T>C (p.Arg333=) n.386T>C c.843T>C (p.Arg281=) c.363T>C (p.Arg121=) c.144T>C (p.Arg48=) c.1168T>C c.332T>C (n.332T>C) c.837T>C (p.Arg279=) c.1215T>C (p.Arg405=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102208190A>T | CA462123722 | RRM2B | c.999T>A (p.Arg333=) n.386T>A c.843T>A (p.Arg281=) c.363T>A (p.Arg121=) c.144T>A (p.Arg48=) c.1168T>A c.332T>A (n.332T>A) c.837T>A (p.Arg279=) c.1215T>A (p.Arg405=) | |
| 8 | g.102208191C>A | CA371585557 | RRM2B | c.998G>T (p.Arg333Leu) n.385G>T c.842G>T (p.Arg281Leu) c.362G>T (p.Arg121Leu) c.143G>T (p.Arg48Leu) c.1167G>T c.331G>T (n.331G>T) c.836G>T (p.Arg279Leu) c.1214G>T (p.Arg405Leu) | gnomAD v4 |
| 8 | g.102208191C= | CA1806674674 | RRM2B | c.998G= (p.Arg333=) n.385G= c.842G= (p.Arg281=) c.362G= (p.Arg121=) c.143G= (p.Arg48=) c.1167G= c.331G= (n.331G=) c.836G= (p.Arg279=) c.1214G= (p.Arg405=) | |
| 8 | g.102208191C>G | CA371585556 | RRM2B | c.998G>C (p.Arg333Pro) n.385G>C c.842G>C (p.Arg281Pro) c.362G>C (p.Arg121Pro) c.143G>C (p.Arg48Pro) c.1167G>C c.331G>C (n.331G>C) c.836G>C (p.Arg279Pro) c.1214G>C (p.Arg405Pro) | |
| 8 | g.102208191C>T | CA371585560 | RRM2B | c.998G>A (p.Arg333His) n.385G>A c.842G>A (p.Arg281His) c.362G>A (p.Arg121His) c.143G>A (p.Arg48His) c.1167G>A c.331G>A (n.331G>A) c.836G>A (p.Arg279His) c.1214G>A (p.Arg405His) | dbSNP gnomAD v4 |
| 8 | g.102208192G>A | CA371585568 | RRM2B | c.997C>T (p.Arg333Cys) n.384C>T c.841C>T (p.Arg281Cys) c.361C>T (p.Arg121Cys) c.142C>T (p.Arg48Cys) c.1166C>T c.330C>T (n.330C>T) c.835C>T (p.Arg279Cys) c.1213C>T (p.Arg405Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.102208192G>C | CA371585586 | RRM2B | c.997C>G (p.Arg333Gly) n.384C>G c.841C>G (p.Arg281Gly) c.361C>G (p.Arg121Gly) c.142C>G (p.Arg48Gly) c.1166C>G c.330C>G (n.330C>G) c.835C>G (p.Arg279Gly) c.1213C>G (p.Arg405Gly) | |
| 8 | g.102208192G= | CA1806674675 | RRM2B | c.997C= (p.Arg333=) n.384C= c.841C= (p.Arg281=) c.361C= (p.Arg121=) c.142C= (p.Arg48=) c.1166C= c.330C= (n.330C=) c.835C= (p.Arg279=) c.1213C= (p.Arg405=) | |
| 8 | g.102208192G>T | CA371585577 | RRM2B | c.997C>A (p.Arg333Ser) n.384C>A c.841C>A (p.Arg281Ser) c.361C>A (p.Arg121Ser) c.142C>A (p.Arg48Ser) c.1166C>A c.330C>A (n.330C>A) c.835C>A (p.Arg279Ser) c.1213C>A (p.Arg405Ser) | |
| 8 | g.102208193C>A | CA371585590 | RRM2B | c.996G>T (p.Gln332His) n.383G>T c.840G>T (p.Gln280His) c.360G>T (p.Gln120His) c.141G>T (p.Gln47His) c.1165G>T c.329G>T (n.329G>T) c.834G>T (p.Gln278His) c.1212G>T (p.Gln404His) | |
| 8 | g.102208193C>G | CA371585597 | RRM2B | c.996G>C (p.Gln332His) n.383G>C c.840G>C (p.Gln280His) c.360G>C (p.Gln120His) c.141G>C (p.Gln47His) c.1165G>C c.329G>C (n.329G>C) c.834G>C (p.Gln278His) c.1212G>C (p.Gln404His) | gnomAD v4 |
| 8 | g.102208193C>T | CA462123729 | RRM2B | c.996G>A (p.Gln332=) n.383G>A c.840G>A (p.Gln280=) c.360G>A (p.Gln120=) c.141G>A (p.Gln47=) c.1165G>A c.329G>A (n.329G>A) c.834G>A (p.Gln278=) c.1212G>A (p.Gln404=) | |
| 8 | g.102208194del | CA2525168221 | RRM2B | c.995del (p.Gln332ArgfsTer?) n.382del c.839del (p.Gln280ArgfsTer?) c.359del (p.Gln120ArgfsTer?) c.140del (p.Gln47ArgfsTer?) c.1164del c.328del (n.328del) c.833del (p.Gln278ArgfsTer?) c.1211del (p.Gln404ArgfsTer?) | |
| 8 | g.102208194T>A | CA371585603 | RRM2B | c.995A>T (p.Gln332Leu) n.382A>T c.839A>T (p.Gln280Leu) c.359A>T (p.Gln120Leu) c.140A>T (p.Gln47Leu) c.1164A>T c.328A>T (n.328A>T) c.833A>T (p.Gln278Leu) c.1211A>T (p.Gln404Leu) | |
| 8 | g.102208194T>C | CA371585605 | RRM2B | c.995A>G (p.Gln332Arg) n.382A>G c.839A>G (p.Gln280Arg) c.359A>G (p.Gln120Arg) c.140A>G (p.Gln47Arg) c.1164A>G c.328A>G (n.328A>G) c.833A>G (p.Gln278Arg) c.1211A>G (p.Gln404Arg) | |
| 8 | g.102208194T>G | CA371585608 | RRM2B | c.995A>C (p.Gln332Pro) n.382A>C c.839A>C (p.Gln280Pro) c.359A>C (p.Gln120Pro) c.140A>C (p.Gln47Pro) c.1164A>C c.328A>C (n.328A>C) c.833A>C (p.Gln278Pro) c.1211A>C (p.Gln404Pro) | |
| 8 | g.102208195G>A | CA371585618 | RRM2B | c.994C>T (p.Gln332Ter) n.381C>T c.838C>T (p.Gln280Ter) c.358C>T (p.Gln120Ter) c.139C>T (p.Gln47Ter) c.1163C>T c.327C>T (n.327C>T) c.832C>T (p.Gln278Ter) c.1210C>T (p.Gln404Ter) | |
| 8 | g.102208195G>C | CA371585619 | RRM2B | c.994C>G (p.Gln332Glu) n.381C>G c.838C>G (p.Gln280Glu) c.358C>G (p.Gln120Glu) c.139C>G (p.Gln47Glu) c.1163C>G c.327C>G (n.327C>G) c.832C>G (p.Gln278Glu) c.1210C>G (p.Gln404Glu) | |
| 8 | g.102208195G>T | CA371585620 | RRM2B | c.994C>A (p.Gln332Lys) n.381C>A c.838C>A (p.Gln280Lys) c.358C>A (p.Gln120Lys) c.139C>A (p.Gln47Lys) c.1163C>A c.327C>A (n.327C>A) c.832C>A (p.Gln278Lys) c.1210C>A (p.Gln404Lys) | |
| 8 | g.102208196A>C | CA371585621 | RRM2B | c.993T>G (p.Tyr331Ter) n.380T>G c.837T>G (p.Tyr279Ter) c.357T>G (p.Tyr119Ter) c.138T>G (p.Tyr46Ter) c.1162T>G c.326T>G (n.326T>G) c.831T>G (p.Tyr277Ter) c.1209T>G (p.Tyr403Ter) | |
| 8 | g.102208196A>G | CA462123737 | RRM2B | c.993T>C (p.Tyr331=) n.380T>C c.837T>C (p.Tyr279=) c.357T>C (p.Tyr119=) c.138T>C (p.Tyr46=) c.1162T>C c.326T>C (n.326T>C) c.831T>C (p.Tyr277=) c.1209T>C (p.Tyr403=) | |
| 8 | g.102208196A>T | CA371585622 | RRM2B | c.993T>A (p.Tyr331Ter) n.380T>A c.837T>A (p.Tyr279Ter) c.357T>A (p.Tyr119Ter) c.138T>A (p.Tyr46Ter) c.1162T>A c.326T>A (n.326T>A) c.831T>A (p.Tyr277Ter) c.1209T>A (p.Tyr403Ter) | |
| 8 | g.102208196_102208197insCCCACACT | CA2544314404 | RRM2B | c.992_993insAGTGTGGG (p.Tyr331Ter) n.379_380insAGTGTGGG c.836_837insAGTGTGGG (p.Tyr279Ter) c.356_357insAGTGTGGG (p.Tyr119Ter) c.137_138insAGTGTGGG (p.Tyr46Ter) c.1161_1162insAGTGTGGG c.325_326insAGTGTGGG (n.325_326insAGTGTGGG) c.830_831insAGTGTGGG (p.Tyr277Ter) c.1208_1209insAGTGTGGG (p.Tyr403Ter) | |
| 8 | g.102208197T>A | CA371585625 | RRM2B | c.992A>T (p.Tyr331Phe) n.379A>T c.836A>T (p.Tyr279Phe) c.356A>T (p.Tyr119Phe) c.137A>T (p.Tyr46Phe) c.1161A>T c.325A>T (n.325A>T) c.830A>T (p.Tyr277Phe) c.1208A>T (p.Tyr403Phe) | |
| 8 | g.102208197T>C | CA371585633 | RRM2B | c.992A>G (p.Tyr331Cys) n.379A>G c.836A>G (p.Tyr279Cys) c.356A>G (p.Tyr119Cys) c.137A>G (p.Tyr46Cys) c.1161A>G c.325A>G (n.325A>G) c.830A>G (p.Tyr277Cys) c.1208A>G (p.Tyr403Cys) | ClinVar |
| 8 | g.102208197T>G | CA371585637 | RRM2B | c.992A>C (p.Tyr331Ser) n.379A>C c.836A>C (p.Tyr279Ser) c.356A>C (p.Tyr119Ser) c.137A>C (p.Tyr46Ser) c.1161A>C c.325A>C (n.325A>C) c.830A>C (p.Tyr277Ser) c.1208A>C (p.Tyr403Ser) | |
| 8 | g.102208198A>C | CA371585647 | RRM2B | c.991T>G (p.Tyr331Asp) n.378T>G c.835T>G (p.Tyr279Asp) c.355T>G (p.Tyr119Asp) c.136T>G (p.Tyr46Asp) c.1160T>G c.324T>G (n.324T>G) c.829T>G (p.Tyr277Asp) c.1207T>G (p.Tyr403Asp) | |
| 8 | g.102208198A>G | CA371585654 | RRM2B | c.991T>C (p.Tyr331His) n.378T>C c.835T>C (p.Tyr279His) c.355T>C (p.Tyr119His) c.136T>C (p.Tyr46His) c.1160T>C c.324T>C (n.324T>C) c.829T>C (p.Tyr277His) c.1207T>C (p.Tyr403His) | |
| 8 | g.102208198A>T | CA371585653 | RRM2B | c.991T>A (p.Tyr331Asn) n.378T>A c.835T>A (p.Tyr279Asn) c.355T>A (p.Tyr119Asn) c.136T>A (p.Tyr46Asn) c.1160T>A c.324T>A (n.324T>A) c.829T>A (p.Tyr277Asn) c.1207T>A (p.Tyr403Asn) | |
| 8 | g.102208199C>A | CA371585655 | RRM2B | c.990G>T (p.Glu330Asp) n.377G>T c.834G>T (p.Glu278Asp) c.354G>T (p.Glu118Asp) c.135G>T (p.Glu45Asp) c.1159G>T c.323G>T (n.323G>T) c.828G>T (p.Glu276Asp) c.1206G>T (p.Glu402Asp) | |
| 8 | g.102208199C= | CA1806674676 | RRM2B | c.990G= (p.Glu330=) n.377G= c.834G= (p.Glu278=) c.354G= (p.Glu118=) c.135G= (p.Glu45=) c.1159G= c.323G= (n.323G=) c.828G= (p.Glu276=) c.1206G= (p.Glu402=) | |
| 8 | g.102208199C>G | CA371585661 | RRM2B | c.990G>C (p.Glu330Asp) n.377G>C c.834G>C (p.Glu278Asp) c.354G>C (p.Glu118Asp) c.135G>C (p.Glu45Asp) c.1159G>C c.323G>C (n.323G>C) c.828G>C (p.Glu276Asp) c.1206G>C (p.Glu402Asp) | |
| 8 | g.102208199C>T | CA182464186 | RRM2B | c.990G>A (p.Glu330=) n.377G>A c.834G>A (p.Glu278=) c.354G>A (p.Glu118=) c.135G>A (p.Glu45=) c.1159G>A c.323G>A (n.323G>A) c.828G>A (p.Glu276=) c.1206G>A (p.Glu402=) | dbSNP |
| 8 | g.102208200T>A | CA371585665 | RRM2B | c.989A>T (p.Glu330Val) n.376A>T c.833A>T (p.Glu278Val) c.353A>T (p.Glu118Val) c.134A>T (p.Glu45Val) c.1158A>T c.322A>T (n.322A>T) c.827A>T (p.Glu276Val) c.1205A>T (p.Glu402Val) | |
| 8 | g.102208200T>C | CA371585667 | RRM2B | c.989A>G (p.Glu330Gly) n.376A>G c.833A>G (p.Glu278Gly) c.353A>G (p.Glu118Gly) c.134A>G (p.Glu45Gly) c.1158A>G c.322A>G (n.322A>G) c.827A>G (p.Glu276Gly) c.1205A>G (p.Glu402Gly) | |
| 8 | g.102208200T>G | CA371585671 | RRM2B | c.989A>C (p.Glu330Ala) n.376A>C c.833A>C (p.Glu278Ala) c.353A>C (p.Glu118Ala) c.134A>C (p.Glu45Ala) c.1158A>C c.322A>C (n.322A>C) c.827A>C (p.Glu276Ala) c.1205A>C (p.Glu402Ala) | |
| 8 | g.102208201C>A | CA371585677 | RRM2B | c.988G>T (p.Glu330Ter) n.375G>T c.832G>T (p.Glu278Ter) c.352G>T (p.Glu118Ter) c.133G>T (p.Glu45Ter) c.1157G>T c.321G>T (n.321G>T) c.826G>T (p.Glu276Ter) c.1204G>T (p.Glu402Ter) | |
| 8 | g.102208201C>G | CA371585680 | RRM2B | c.988G>C (p.Glu330Gln) n.375G>C c.832G>C (p.Glu278Gln) c.352G>C (p.Glu118Gln) c.133G>C (p.Glu45Gln) c.1157G>C c.321G>C (n.321G>C) c.826G>C (p.Glu276Gln) c.1204G>C (p.Glu402Gln) | |
| 8 | g.102208201C>T | CA371585691 | RRM2B | c.988G>A (p.Glu330Lys) n.375G>A c.832G>A (p.Glu278Lys) c.352G>A (p.Glu118Lys) c.133G>A (p.Glu45Lys) c.1157G>A c.321G>A (n.321G>A) c.826G>A (p.Glu276Lys) c.1204G>A (p.Glu402Lys) | COSMIC |
| 8 | g.102208201_102208202insCGCAAA | CA2566191335 | RRM2B | c.987_988insTTTGCG (p.Ser329_Glu330insPheAla) n.374_375insTTTGCG c.831_832insTTTGCG (p.Ser277_Glu278insPheAla) c.351_352insTTTGCG (p.Ser117_Glu118insPheAla) c.132_133insTTTGCG (p.Ser44_Glu45insPheAla) c.1156_1157insTTTGCG c.320_321insTTTGCG (n.320_321insTTTGCG) c.825_826insTTTGCG (p.Ser275_Glu276insPheAla) c.1203_1204insTTTGCG (p.Ser401_Glu402insPheAla) | |
| 8 | g.102208202T>A | CA462123760 | RRM2B | c.987A>T (p.Ser329=) n.374A>T c.831A>T (p.Ser277=) c.351A>T (p.Ser117=) c.132A>T (p.Ser44=) c.1156A>T c.320A>T (n.320A>T) c.825A>T (p.Ser275=) c.1203A>T (p.Ser401=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102208202T>C | CA462123757 | RRM2B | c.987A>G (p.Ser329=) n.374A>G c.831A>G (p.Ser277=) c.351A>G (p.Ser117=) c.132A>G (p.Ser44=) c.1156A>G c.320A>G (n.320A>G) c.825A>G (p.Ser275=) c.1203A>G (p.Ser401=) | |
| 8 | g.102208202T>G | CA462123756 | RRM2B | c.987A>C (p.Ser329=) n.374A>C c.831A>C (p.Ser277=) c.351A>C (p.Ser117=) c.132A>C (p.Ser44=) c.1156A>C c.320A>C (n.320A>C) c.825A>C (p.Ser275=) c.1203A>C (p.Ser401=) | dbSNP |
| 8 | g.102208202T= | CA1806674677 | RRM2B | c.987A= (p.Ser329=) n.374A= c.831A= (p.Ser277=) c.351A= (p.Ser117=) c.132A= (p.Ser44=) c.1156A= c.320A= (n.320A=) c.825A= (p.Ser275=) c.1203A= (p.Ser401=) | |
| 8 | g.102208203G>A | CA371585722 | RRM2B | c.986C>T (p.Ser329Leu) n.373C>T c.830C>T (p.Ser277Leu) c.350C>T (p.Ser117Leu) c.131C>T (p.Ser44Leu) c.1155C>T c.319C>T (n.319C>T) c.824C>T (p.Ser275Leu) c.1202C>T (p.Ser401Leu) | |
| 8 | g.102208203G>C | CA371585715 | RRM2B | c.986C>G (p.Ser329Ter) n.373C>G c.830C>G (p.Ser277Ter) c.350C>G (p.Ser117Ter) c.131C>G (p.Ser44Ter) c.1155C>G c.319C>G (n.319C>G) c.824C>G (p.Ser275Ter) c.1202C>G (p.Ser401Ter) | |
| 8 | g.102208203G>T | CA371585709 | RRM2B | c.986C>A (p.Ser329Ter) n.373C>A c.830C>A (p.Ser277Ter) c.350C>A (p.Ser117Ter) c.131C>A (p.Ser44Ter) c.1155C>A c.319C>A (n.319C>A) c.824C>A (p.Ser275Ter) c.1202C>A (p.Ser401Ter) | |
| 8 | g.102208204A>C | CA371585737 | RRM2B | c.985T>G (p.Ser329Ala) n.372T>G c.829T>G (p.Ser277Ala) c.349T>G (p.Ser117Ala) c.130T>G (p.Ser44Ala) c.1154T>G c.318T>G (n.318T>G) c.823T>G (p.Ser275Ala) c.1201T>G (p.Ser401Ala) | |
| 8 | g.102208204A>G | CA371585742 | RRM2B | c.985T>C (p.Ser329Pro) n.372T>C c.829T>C (p.Ser277Pro) c.349T>C (p.Ser117Pro) c.130T>C (p.Ser44Pro) c.1154T>C c.318T>C (n.318T>C) c.823T>C (p.Ser275Pro) c.1201T>C (p.Ser401Pro) | |
| 8 | g.102208204A>T | CA371585746 | RRM2B | c.985T>A (p.Ser329Thr) n.372T>A c.829T>A (p.Ser277Thr) c.349T>A (p.Ser117Thr) c.130T>A (p.Ser44Thr) c.1154T>A c.318T>A (n.318T>A) c.823T>A (p.Ser275Thr) c.1201T>A (p.Ser401Thr) | |
| 8 | g.102208205A>C | CA462123762 | RRM2B | c.984T>G (p.Val328=) n.371T>G c.828T>G (p.Val276=) c.348T>G (p.Val116=) c.129T>G (p.Val43=) c.1153T>G c.317T>G (n.317T>G) c.822T>G (p.Val274=) c.1200T>G (p.Val400=) | |
| 8 | g.102208205A>G | CA462123765 | RRM2B | c.984T>C (p.Val328=) n.371T>C c.828T>C (p.Val276=) c.348T>C (p.Val116=) c.129T>C (p.Val43=) c.1153T>C c.317T>C (n.317T>C) c.822T>C (p.Val274=) c.1200T>C (p.Val400=) | |
| 8 | g.102208205A>T | CA462123770 | RRM2B | c.984T>A (p.Val328=) n.371T>A c.828T>A (p.Val276=) c.348T>A (p.Val116=) c.129T>A (p.Val43=) c.1153T>A c.317T>A (n.317T>A) c.822T>A (p.Val274=) c.1200T>A (p.Val400=) | |
| 8 | g.102208205_102208206insGCGCGAATGC | CA2553242998 | RRM2B | c.983_984insGCATTCGCGC (p.Ser329HisfsTer18) n.370_371insGCATTCGCGC c.827_828insGCATTCGCGC (p.Ser277HisfsTer18) c.347_348insGCATTCGCGC (p.Ser117HisfsTer18) c.128_129insGCATTCGCGC (p.Ser44HisfsTer18) c.1152_1153insGCATTCGCGC c.316_317insGCATTCGCGC (n.316_317insGCATTCGCGC) c.821_822insGCATTCGCGC (p.Ser275HisfsTer18) c.1199_1200insGCATTCGCGC (p.Ser401HisfsTer18) | |
| 8 | g.102208206A>C | CA371585752 | RRM2B | c.983T>G (p.Val328Gly) n.370T>G c.827T>G (p.Val276Gly) c.347T>G (p.Val116Gly) c.128T>G (p.Val43Gly) c.1152T>G c.316T>G (n.316T>G) c.821T>G (p.Val274Gly) c.1199T>G (p.Val400Gly) | |
| 8 | g.102208206A>G | CA371585755 | RRM2B | c.983T>C (p.Val328Ala) n.370T>C c.827T>C (p.Val276Ala) c.347T>C (p.Val116Ala) c.128T>C (p.Val43Ala) c.1152T>C c.316T>C (n.316T>C) c.821T>C (p.Val274Ala) c.1199T>C (p.Val400Ala) | |
| 8 | g.102208206A>T | CA371585761 | RRM2B | c.983T>A (p.Val328Asp) n.370T>A c.827T>A (p.Val276Asp) c.347T>A (p.Val116Asp) c.128T>A (p.Val43Asp) c.1152T>A c.316T>A (n.316T>A) c.821T>A (p.Val274Asp) c.1199T>A (p.Val400Asp) | |
| 8 | g.102208207C>A | CA371585771 | RRM2B | c.982G>T (p.Val328Phe) n.369G>T c.826G>T (p.Val276Phe) c.346G>T (p.Val116Phe) c.127G>T (p.Val43Phe) c.1151G>T c.315G>T (n.315G>T) c.820G>T (p.Val274Phe) c.1198G>T (p.Val400Phe) | gnomAD v4 |
| 8 | g.102208207C>G | CA371585775 | RRM2B | c.982G>C (p.Val328Leu) n.369G>C c.826G>C (p.Val276Leu) c.346G>C (p.Val116Leu) c.127G>C (p.Val43Leu) c.1151G>C c.315G>C (n.315G>C) c.820G>C (p.Val274Leu) c.1198G>C (p.Val400Leu) | |
| 8 | g.102208207C>T | CA371585778 | RRM2B | c.982G>A (p.Val328Ile) n.369G>A c.826G>A (p.Val276Ile) c.346G>A (p.Val116Ile) c.127G>A (p.Val43Ile) c.1151G>A c.315G>A (n.315G>A) c.820G>A (p.Val274Ile) c.1198G>A (p.Val400Ile) | |
| 8 | g.102208208T>A | CA462123778 | RRM2B | c.981A>T (p.Arg327=) n.368A>T c.825A>T (p.Arg275=) c.345A>T (p.Arg115=) c.126A>T (p.Arg42=) c.1150A>T c.314A>T (n.314A>T) c.819A>T (p.Arg273=) c.1197A>T (p.Arg399=) | |
| 8 | g.102208208T>C | CA462123783 | RRM2B | c.981A>G (p.Arg327=) n.368A>G c.825A>G (p.Arg275=) c.345A>G (p.Arg115=) c.126A>G (p.Arg42=) c.1150A>G c.314A>G (n.314A>G) c.819A>G (p.Arg273=) c.1197A>G (p.Arg399=) | |
| 8 | g.102208208T>G | CA462123780 | RRM2B | c.981A>C (p.Arg327=) n.368A>C c.825A>C (p.Arg275=) c.345A>C (p.Arg115=) c.126A>C (p.Arg42=) c.1150A>C c.314A>C (n.314A>C) c.819A>C (p.Arg273=) c.1197A>C (p.Arg399=) | dbSNP |
| 8 | g.102208209C>A | CA371585781 | RRM2B | c.980G>T (p.Arg327Leu) n.367G>T c.824G>T (p.Arg275Leu) c.344G>T (p.Arg115Leu) c.125G>T (p.Arg42Leu) c.1149G>T c.313G>T (n.313G>T) c.818G>T (p.Arg273Leu) c.1196G>T (p.Arg399Leu) | |
| 8 | g.102208209C>G | CA371585791 | RRM2B | c.980G>C (p.Arg327Pro) n.367G>C c.824G>C (p.Arg275Pro) c.344G>C (p.Arg115Pro) c.125G>C (p.Arg42Pro) c.1149G>C c.313G>C (n.313G>C) c.818G>C (p.Arg273Pro) c.1196G>C (p.Arg399Pro) | COSMIC |
| 8 | g.102208209C>T | CA371585795 | RRM2B | c.980G>A (p.Arg327Gln) n.367G>A c.824G>A (p.Arg275Gln) c.344G>A (p.Arg115Gln) c.125G>A (p.Arg42Gln) c.1149G>A c.313G>A (n.313G>A) c.818G>A (p.Arg273Gln) c.1196G>A (p.Arg399Gln) | gnomAD v4 |
| 8 | g.102208210G>A | CA117487 | RRM2B | c.979C>T (p.Arg327Ter) n.366C>T c.823C>T (p.Arg275Ter) c.343C>T (p.Arg115Ter) c.124C>T (p.Arg42Ter) c.1148C>T c.312C>T (n.312C>T) c.817C>T (p.Arg273Ter) c.1195C>T (p.Arg399Ter) | ClinVar dbSNP COSMIC |
| 8 | g.102208210G>C | CA371585801 | RRM2B | c.979C>G (p.Arg327Gly) n.366C>G c.823C>G (p.Arg275Gly) c.343C>G (p.Arg115Gly) c.124C>G (p.Arg42Gly) c.1148C>G c.312C>G (n.312C>G) c.817C>G (p.Arg273Gly) c.1195C>G (p.Arg399Gly) | |
| 8 | g.102208210G= | CA1806674678 | RRM2B | c.979C= (p.Arg327=) n.366C= c.823C= (p.Arg275=) c.343C= (p.Arg115=) c.124C= (p.Arg42=) c.1148C= c.312C= (n.312C=) c.817C= (p.Arg273=) c.1195C= (p.Arg399=) | |
| 8 | g.102208210G>T | CA462123788 | RRM2B | c.979C>A (p.Arg327=) n.366C>A c.823C>A (p.Arg275=) c.343C>A (p.Arg115=) c.124C>A (p.Arg42=) c.1148C>A c.312C>A (n.312C>A) c.817C>A (p.Arg273=) c.1195C>A (p.Arg399=) | |
| 8 | g.102208211T>A | CA371585822 | RRM2B | c.978A>T (p.Lys326Asn) n.365A>T c.822A>T (p.Lys274Asn) c.342A>T (p.Lys114Asn) c.123A>T (p.Lys41Asn) c.1147A>T c.311A>T (n.311A>T) c.816A>T (p.Lys272Asn) c.1194A>T (p.Lys398Asn) | |
| 8 | g.102208211T>C | CA462123790 | RRM2B | c.978A>G (p.Lys326=) n.365A>G c.822A>G (p.Lys274=) c.342A>G (p.Lys114=) c.123A>G (p.Lys41=) c.1147A>G c.311A>G (n.311A>G) c.816A>G (p.Lys272=) c.1194A>G (p.Lys398=) | |
| 8 | g.102208211T>G | CA371585830 | RRM2B | c.978A>C (p.Lys326Asn) n.365A>C c.822A>C (p.Lys274Asn) c.342A>C (p.Lys114Asn) c.123A>C (p.Lys41Asn) c.1147A>C c.311A>C (n.311A>C) c.816A>C (p.Lys272Asn) c.1194A>C (p.Lys398Asn) | |
| 8 | g.102208212T>A | CA371585834 | RRM2B | c.977A>T (p.Lys326Ile) n.364A>T c.821A>T (p.Lys274Ile) c.341A>T (p.Lys114Ile) c.122A>T (p.Lys41Ile) c.1146A>T c.310A>T (n.310A>T) c.815A>T (p.Lys272Ile) c.1193A>T (p.Lys398Ile) | |
| 8 | g.102208212T>C | CA371585837 | RRM2B | c.977A>G (p.Lys326Arg) n.364A>G c.821A>G (p.Lys274Arg) c.341A>G (p.Lys114Arg) c.122A>G (p.Lys41Arg) c.1146A>G c.310A>G (n.310A>G) c.815A>G (p.Lys272Arg) c.1193A>G (p.Lys398Arg) | |
| 8 | g.102208212T>G | CA371585840 | RRM2B | c.977A>C (p.Lys326Thr) n.364A>C c.821A>C (p.Lys274Thr) c.341A>C (p.Lys114Thr) c.122A>C (p.Lys41Thr) c.1146A>C c.310A>C (n.310A>C) c.815A>C (p.Lys272Thr) c.1193A>C (p.Lys398Thr) | |
| 8 | g.102208213T>A | CA371585841 | RRM2B | c.976A>T (p.Lys326Ter) n.363A>T c.820A>T (p.Lys274Ter) c.340A>T (p.Lys114Ter) c.121A>T (p.Lys41Ter) c.1145A>T c.309A>T (n.309A>T) c.814A>T (p.Lys272Ter) c.1192A>T (p.Lys398Ter) | |
| 8 | g.102208213T>C | CA371585842 | RRM2B | c.976A>G (p.Lys326Glu) n.363A>G c.820A>G (p.Lys274Glu) c.340A>G (p.Lys114Glu) c.121A>G (p.Lys41Glu) c.1145A>G c.309A>G (n.309A>G) c.814A>G (p.Lys272Glu) c.1192A>G (p.Lys398Glu) | |
| 8 | g.102208213T>G | CA371585846 | RRM2B | c.976A>C (p.Lys326Gln) n.363A>C c.820A>C (p.Lys274Gln) c.340A>C (p.Lys114Gln) c.121A>C (p.Lys41Gln) c.1145A>C c.309A>C (n.309A>C) c.814A>C (p.Lys272Gln) c.1192A>C (p.Lys398Gln) | |
| 8 | g.102208214C>A | CA371585862 | RRM2B | c.975G>T (p.Glu325Asp) n.362G>T c.819G>T (p.Glu273Asp) c.339G>T (p.Glu113Asp) c.120G>T (p.Glu40Asp) c.1144G>T c.308G>T (n.308G>T) c.813G>T (p.Glu271Asp) c.1191G>T (p.Glu397Asp) | |
| 8 | g.102208214C>G | CA371585866 | RRM2B | c.975G>C (p.Glu325Asp) n.362G>C c.819G>C (p.Glu273Asp) c.339G>C (p.Glu113Asp) c.120G>C (p.Glu40Asp) c.1144G>C c.308G>C (n.308G>C) c.813G>C (p.Glu271Asp) c.1191G>C (p.Glu397Asp) | |
| 8 | g.102208214C>T | CA462123793 | RRM2B | c.975G>A (p.Glu325=) n.362G>A c.819G>A (p.Glu273=) c.339G>A (p.Glu113=) c.120G>A (p.Glu40=) c.1144G>A c.308G>A (n.308G>A) c.813G>A (p.Glu271=) c.1191G>A (p.Glu397=) | dbSNP COSMIC |
| 8 | g.102208215T>A | CA371585886 | RRM2B | c.974A>T (p.Glu325Val) n.361A>T c.818A>T (p.Glu273Val) c.338A>T (p.Glu113Val) c.119A>T (p.Glu40Val) c.1143A>T c.307A>T (n.307A>T) c.812A>T (p.Glu271Val) c.1190A>T (p.Glu397Val) | |
| 8 | g.102208215T>C | CA371585889 | RRM2B | c.974A>G (p.Glu325Gly) n.361A>G c.818A>G (p.Glu273Gly) c.338A>G (p.Glu113Gly) c.119A>G (p.Glu40Gly) c.1143A>G c.307A>G (n.307A>G) c.812A>G (p.Glu271Gly) c.1190A>G (p.Glu397Gly) | |
| 8 | g.102208215T>G | CA371585896 | RRM2B | c.974A>C (p.Glu325Ala) n.361A>C c.818A>C (p.Glu273Ala) c.338A>C (p.Glu113Ala) c.119A>C (p.Glu40Ala) c.1143A>C c.307A>C (n.307A>C) c.812A>C (p.Glu271Ala) c.1190A>C (p.Glu397Ala) | |
| 8 | g.102208215_102208217del | CA2559262303 | RRM2B | c.972_974del (p.Phe324_Glu325delinsLeu) n.359_361del c.816_818del (p.Phe272_Glu273delinsLeu) c.336_338del (p.Phe112_Glu113delinsLeu) c.117_119del (p.Phe39_Glu40delinsLeu) c.1141_1143del c.305_307del (n.305_307del) c.810_812del (p.Phe270_Glu271delinsLeu) c.1188_1190del (p.Phe396_Glu397delinsLeu) | |
| 8 | g.102208216C>A | CA371585903 | RRM2B | c.973G>T (p.Glu325Ter) n.360G>T c.817G>T (p.Glu273Ter) c.337G>T (p.Glu113Ter) c.118G>T (p.Glu40Ter) c.1142G>T c.306G>T (n.306G>T) c.811G>T (p.Glu271Ter) c.1189G>T (p.Glu397Ter) | gnomAD v4 |
| 8 | g.102208216C>G | CA371585904 | RRM2B | c.973G>C (p.Glu325Gln) n.360G>C c.817G>C (p.Glu273Gln) c.337G>C (p.Glu113Gln) c.118G>C (p.Glu40Gln) c.1142G>C c.306G>C (n.306G>C) c.811G>C (p.Glu271Gln) c.1189G>C (p.Glu397Gln) | |
| 8 | g.102208216C>T | CA371585902 | RRM2B | c.973G>A (p.Glu325Lys) n.360G>A c.817G>A (p.Glu273Lys) c.337G>A (p.Glu113Lys) c.118G>A (p.Glu40Lys) c.1142G>A c.306G>A (n.306G>A) c.811G>A (p.Glu271Lys) c.1189G>A (p.Glu397Lys) | |
| 8 | g.102208217A= | CA1806674679 | RRM2B | c.972T= (p.Phe324=) n.359T= c.816T= (p.Phe272=) c.336T= (p.Phe112=) c.117T= (p.Phe39=) c.1141T= c.305T= (n.305T=) c.810T= (p.Phe270=) c.1188T= (p.Phe396=) | |
| 8 | g.102208217A>C | CA371585911 | RRM2B | c.972T>G (p.Phe324Leu) n.359T>G c.816T>G (p.Phe272Leu) c.336T>G (p.Phe112Leu) c.117T>G (p.Phe39Leu) c.1141T>G c.305T>G (n.305T>G) c.810T>G (p.Phe270Leu) c.1188T>G (p.Phe396Leu) | |
| 8 | g.102208217A>G | CA182464187 | RRM2B | c.972T>C (p.Phe324=) n.359T>C c.816T>C (p.Phe272=) c.336T>C (p.Phe112=) c.117T>C (p.Phe39=) c.1141T>C c.305T>C (n.305T>C) c.810T>C (p.Phe270=) c.1188T>C (p.Phe396=) | dbSNP |
| 8 | g.102208217A>T | CA371585908 | RRM2B | c.972T>A (p.Phe324Leu) n.359T>A c.816T>A (p.Phe272Leu) c.336T>A (p.Phe112Leu) c.117T>A (p.Phe39Leu) c.1141T>A c.305T>A (n.305T>A) c.810T>A (p.Phe270Leu) c.1188T>A (p.Phe396Leu) | |
| 8 | g.102208218A= | CA1806674680 | RRM2B | c.971T= (p.Phe324=) n.358T= c.815T= (p.Phe272=) c.335T= (p.Phe112=) c.116T= (p.Phe39=) c.1140T= c.304T= (n.304T=) c.809T= (p.Phe270=) c.1187T= (p.Phe396=) | |
| 8 | g.102208218A>C | CA371585919 | RRM2B | c.971T>G (p.Phe324Cys) n.358T>G c.815T>G (p.Phe272Cys) c.335T>G (p.Phe112Cys) c.116T>G (p.Phe39Cys) c.1140T>G c.304T>G (n.304T>G) c.809T>G (p.Phe270Cys) c.1187T>G (p.Phe396Cys) | |
| 8 | g.102208218A>G | CA371585925 | RRM2B | c.971T>C (p.Phe324Ser) n.358T>C c.815T>C (p.Phe272Ser) c.335T>C (p.Phe112Ser) c.116T>C (p.Phe39Ser) c.1140T>C c.304T>C (n.304T>C) c.809T>C (p.Phe270Ser) c.1187T>C (p.Phe396Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102208218A>T | CA371585926 | RRM2B | c.971T>A (p.Phe324Tyr) n.358T>A c.815T>A (p.Phe272Tyr) c.335T>A (p.Phe112Tyr) c.116T>A (p.Phe39Tyr) c.1140T>A c.304T>A (n.304T>A) c.809T>A (p.Phe270Tyr) c.1187T>A (p.Phe396Tyr) | |
| 8 | g.102208219A>C | CA371585930 | RRM2B | c.970T>G (p.Phe324Val) n.357T>G c.814T>G (p.Phe272Val) c.334T>G (p.Phe112Val) c.115T>G (p.Phe39Val) c.1139T>G c.303T>G (n.303T>G) c.808T>G (p.Phe270Val) c.1186T>G (p.Phe396Val) | |
| 8 | g.102208219A>G | CA371585934 | RRM2B | c.970T>C (p.Phe324Leu) n.357T>C c.814T>C (p.Phe272Leu) c.334T>C (p.Phe112Leu) c.115T>C (p.Phe39Leu) c.1139T>C c.303T>C (n.303T>C) c.808T>C (p.Phe270Leu) c.1186T>C (p.Phe396Leu) | |
| 8 | g.102208219A>T | CA371585952 | RRM2B | c.970T>A (p.Phe324Ile) n.357T>A c.814T>A (p.Phe272Ile) c.334T>A (p.Phe112Ile) c.115T>A (p.Phe39Ile) c.1139T>A c.303T>A (n.303T>A) c.808T>A (p.Phe270Ile) c.1186T>A (p.Phe396Ile) | |
| 8 | g.102208220G>A | CA462123806 | RRM2B | c.969C>T (p.Phe323=) n.356C>T c.813C>T (p.Phe271=) c.333C>T (p.Phe111=) c.114C>T (p.Phe38=) c.1138C>T c.302C>T (n.302C>T) c.807C>T (p.Phe269=) c.1185C>T (p.Phe395=) | |
| 8 | g.102208220G>C | CA371585960 | RRM2B | c.969C>G (p.Phe323Leu) n.356C>G c.813C>G (p.Phe271Leu) c.333C>G (p.Phe111Leu) c.114C>G (p.Phe38Leu) c.1138C>G c.302C>G (n.302C>G) c.807C>G (p.Phe269Leu) c.1185C>G (p.Phe395Leu) | COSMIC |
| 8 | g.102208220G>T | CA371585964 | RRM2B | c.969C>A (p.Phe323Leu) n.356C>A c.813C>A (p.Phe271Leu) c.333C>A (p.Phe111Leu) c.114C>A (p.Phe38Leu) c.1138C>A c.302C>A (n.302C>A) c.807C>A (p.Phe269Leu) c.1185C>A (p.Phe395Leu) | gnomAD v4 COSMIC |
| 8 | g.102208220_102208221insT | CA2504853802 | RRM2B | c.968_969insA (p.Phe323LeufsTer3) n.355_356insA c.812_813insA (p.Phe271LeufsTer3) c.332_333insA (p.Phe111LeufsTer3) c.113_114insA (p.Phe38LeufsTer3) c.1137_1138insA c.301_302insA (n.301_302insA) c.806_807insA (p.Phe269LeufsTer3) c.1184_1185insA (p.Phe395LeufsTer3) | |
| 8 | g.102208221A>C | CA371585977 | RRM2B | c.968T>G (p.Phe323Cys) n.355T>G c.812T>G (p.Phe271Cys) c.332T>G (p.Phe111Cys) c.113T>G (p.Phe38Cys) c.1137T>G c.301T>G (n.301T>G) c.806T>G (p.Phe269Cys) c.1184T>G (p.Phe395Cys) | |
| 8 | g.102208221A>G | CA371585983 | RRM2B | c.968T>C (p.Phe323Ser) n.355T>C c.812T>C (p.Phe271Ser) c.332T>C (p.Phe111Ser) c.113T>C (p.Phe38Ser) c.1137T>C c.301T>C (n.301T>C) c.806T>C (p.Phe269Ser) c.1184T>C (p.Phe395Ser) | |
| 8 | g.102208221A>T | CA371585993 | RRM2B | c.968T>A (p.Phe323Tyr) n.355T>A c.812T>A (p.Phe271Tyr) c.332T>A (p.Phe111Tyr) c.113T>A (p.Phe38Tyr) c.1137T>A c.301T>A (n.301T>A) c.806T>A (p.Phe269Tyr) c.1184T>A (p.Phe395Tyr) | |
| 8 | g.102208222A>C | CA371586000 | RRM2B | c.967T>G (p.Phe323Val) n.354T>G c.811T>G (p.Phe271Val) c.331T>G (p.Phe111Val) c.112T>G (p.Phe38Val) c.1136T>G c.300T>G (n.300T>G) c.805T>G (p.Phe269Val) c.1183T>G (p.Phe395Val) | |
| 8 | g.102208222A>G | CA371586004 | RRM2B | c.967T>C (p.Phe323Leu) n.354T>C c.811T>C (p.Phe271Leu) c.331T>C (p.Phe111Leu) c.112T>C (p.Phe38Leu) c.1136T>C c.300T>C (n.300T>C) c.805T>C (p.Phe269Leu) c.1183T>C (p.Phe395Leu) | |
| 8 | g.102208222A>T | CA371585996 | RRM2B | c.967T>A (p.Phe323Ile) n.354T>A c.811T>A (p.Phe271Ile) c.331T>A (p.Phe111Ile) c.112T>A (p.Phe38Ile) c.1136T>A c.300T>A (n.300T>A) c.805T>A (p.Phe269Ile) c.1183T>A (p.Phe395Ile) | |
| 8 | g.102208223A= | CA1806674681 | RRM2B | c.966T= (p.Asn322=) n.353T= c.810T= (p.Asn270=) c.330T= (p.Asn110=) c.111T= (p.Asn37=) c.1135T= c.299T= (n.299T=) c.804T= (p.Asn268=) c.1182T= (p.Asn394=) | |
| 8 | g.102208223A>C | CA371586012 | RRM2B | c.966T>G (p.Asn322Lys) n.353T>G c.810T>G (p.Asn270Lys) c.330T>G (p.Asn110Lys) c.111T>G (p.Asn37Lys) c.1135T>G c.299T>G (n.299T>G) c.804T>G (p.Asn268Lys) c.1182T>G (p.Asn394Lys) | |
| 8 | g.102208223A>G | CA462123817 | RRM2B | c.966T>C (p.Asn322=) n.353T>C c.810T>C (p.Asn270=) c.330T>C (p.Asn110=) c.111T>C (p.Asn37=) c.1135T>C c.299T>C (n.299T>C) c.804T>C (p.Asn268=) c.1182T>C (p.Asn394=) | |
| 8 | g.102208223A>T | CA371586017 | RRM2B | c.966T>A (p.Asn322Lys) n.353T>A c.810T>A (p.Asn270Lys) c.330T>A (p.Asn110Lys) c.111T>A (p.Asn37Lys) c.1135T>A c.299T>A (n.299T>A) c.804T>A (p.Asn268Lys) c.1182T>A (p.Asn394Lys) | |
| 8 | g.102208224T>A | CA371586022 | RRM2B | c.965A>T (p.Asn322Ile) n.352A>T c.809A>T (p.Asn270Ile) c.329A>T (p.Asn110Ile) c.110A>T (p.Asn37Ile) c.1134A>T c.298A>T (n.298A>T) c.803A>T (p.Asn268Ile) c.1181A>T (p.Asn394Ile) | |
| 8 | g.102208224T>C | CA371586023 | RRM2B | c.965A>G (p.Asn322Ser) n.352A>G c.809A>G (p.Asn270Ser) c.329A>G (p.Asn110Ser) c.110A>G (p.Asn37Ser) c.1134A>G c.298A>G (n.298A>G) c.803A>G (p.Asn268Ser) c.1181A>G (p.Asn394Ser) | |
| 8 | g.102208224T>G | CA371586024 | RRM2B | c.965A>C (p.Asn322Thr) n.352A>C c.809A>C (p.Asn270Thr) c.329A>C (p.Asn110Thr) c.110A>C (p.Asn37Thr) c.1134A>C c.298A>C (n.298A>C) c.803A>C (p.Asn268Thr) c.1181A>C (p.Asn394Thr) | |
| 8 | g.102208226dup | CA213027 | RRM2B | c.965dup (p.Asn322LysfsTer4) n.352dup c.809dup (p.Asn270LysfsTer4) c.329dup (p.Asn110LysfsTer4) c.110dup (p.Asn37LysfsTer4) c.1134dup c.298dup (n.298dup) c.803dup (p.Asn268LysfsTer4) c.1181dup (p.Asn394LysfsTer4) | ClinVar dbSNP |
| 8 | g.102208227_102208230del | CA2688143447 | RRM2B | c.962_965del (p.Thr321IlefsTer?) n.349_352del c.806_809del (p.Thr269IlefsTer?) c.326_329del (p.Thr109IlefsTer?) c.107_110del (p.Thr36IlefsTer?) c.1131_1134del c.295_298del (n.295_298del) c.800_803del (p.Thr267IlefsTer?) c.1178_1181del (p.Thr393IlefsTer?) | gnomAD v4 |
| 8 | g.102208225T>A | CA371586039 | RRM2B | c.964A>T (p.Asn322Tyr) n.351A>T c.808A>T (p.Asn270Tyr) c.328A>T (p.Asn110Tyr) c.109A>T (p.Asn37Tyr) c.1133A>T c.297A>T (n.297A>T) c.802A>T (p.Asn268Tyr) c.1180A>T (p.Asn394Tyr) | |
| 8 | g.102208225T>C | CA371586028 | RRM2B | c.964A>G (p.Asn322Asp) n.351A>G c.808A>G (p.Asn270Asp) c.328A>G (p.Asn110Asp) c.109A>G (p.Asn37Asp) c.1133A>G c.297A>G (n.297A>G) c.802A>G (p.Asn268Asp) c.1180A>G (p.Asn394Asp) | |
| 8 | g.102208225T>G | CA371586031 | RRM2B | c.964A>C (p.Asn322His) n.351A>C c.808A>C (p.Asn270His) c.328A>C (p.Asn110His) c.109A>C (p.Asn37His) c.1133A>C c.297A>C (n.297A>C) c.802A>C (p.Asn268His) c.1180A>C (p.Asn394His) | |
| 8 | g.102208226T>A | CA462123835 | RRM2B | c.963A>T (p.Thr321=) n.350A>T c.807A>T (p.Thr269=) c.327A>T (p.Thr109=) c.108A>T (p.Thr36=) c.1132A>T c.296A>T (n.296A>T) c.801A>T (p.Thr267=) c.1179A>T (p.Thr393=) | |
| 8 | g.102208226T>C | CA462123836 | RRM2B | c.963A>G (p.Thr321=) n.350A>G c.807A>G (p.Thr269=) c.327A>G (p.Thr109=) c.108A>G (p.Thr36=) c.1132A>G c.296A>G (n.296A>G) c.801A>G (p.Thr267=) c.1179A>G (p.Thr393=) | |
| 8 | g.102208226T>G | CA462123837 | RRM2B | c.963A>C (p.Thr321=) n.350A>C c.807A>C (p.Thr269=) c.327A>C (p.Thr109=) c.108A>C (p.Thr36=) c.1132A>C c.296A>C (n.296A>C) c.801A>C (p.Thr267=) c.1179A>C (p.Thr393=) | |
| 8 | g.102208226_102208227delinsTG | CA1806674682 | RRM2B | c.962_963delinsCA (p.Thr321=) n.349_350delinsCA c.806_807delinsCA (p.Thr269=) c.326_327delinsCA (p.Thr109=) c.107_108delinsCA (p.Thr36=) c.1131_1132delinsCA c.295_296delinsCA (n.295_296delinsCA) c.800_801delinsCA (p.Thr267=) c.1178_1179delinsCA (p.Thr393=) | |
| 8 | g.102208227del | CA583906539 | RRM2B | c.962del (p.Thr321LysfsTer?) n.349del c.806del (p.Thr269LysfsTer?) c.326del (p.Thr109LysfsTer?) c.107del (p.Thr36LysfsTer?) c.1131del c.295del (n.295del) c.800del (p.Thr267LysfsTer?) c.1178del (p.Thr393LysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.102208227G>A | CA371586051 | RRM2B | c.962C>T (p.Thr321Ile) n.349C>T c.806C>T (p.Thr269Ile) c.326C>T (p.Thr109Ile) c.107C>T (p.Thr36Ile) c.1131C>T c.295C>T (n.295C>T) c.800C>T (p.Thr267Ile) c.1178C>T (p.Thr393Ile) | |
| 8 | g.102208227G>C | CA371586055 | RRM2B | c.962C>G (p.Thr321Arg) n.349C>G c.806C>G (p.Thr269Arg) c.326C>G (p.Thr109Arg) c.107C>G (p.Thr36Arg) c.1131C>G c.295C>G (n.295C>G) c.800C>G (p.Thr267Arg) c.1178C>G (p.Thr393Arg) | |
| 8 | g.102208227G>T | CA371586057 | RRM2B | c.962C>A (p.Thr321Lys) n.349C>A c.806C>A (p.Thr269Lys) c.326C>A (p.Thr109Lys) c.107C>A (p.Thr36Lys) c.1131C>A c.295C>A (n.295C>A) c.800C>A (p.Thr267Lys) c.1178C>A (p.Thr393Lys) | |
| 8 | g.102208227_102208239del | CA2565827477 | RRM2B | c.950_962del (p.Leu317Ter) n.337_349del c.794_806del (p.Leu265Ter) c.314_326del (p.Leu105Ter) c.95_107del (p.Leu32Ter) c.1119_1131del c.283_295del (n.283_295del) c.788_800del (p.Leu263Ter) c.1166_1178del (p.Leu389Ter) | |
| 8 | g.102208228T>A | CA371586059 | RRM2B | c.961A>T (p.Thr321Ser) n.348A>T c.805A>T (p.Thr269Ser) c.325A>T (p.Thr109Ser) c.106A>T (p.Thr36Ser) c.1130A>T c.294A>T (n.294A>T) c.799A>T (p.Thr267Ser) c.1177A>T (p.Thr393Ser) | |
| 8 | g.102208228T>C | CA371586061 | RRM2B | c.961A>G (p.Thr321Ala) n.348A>G c.805A>G (p.Thr269Ala) c.325A>G (p.Thr109Ala) c.106A>G (p.Thr36Ala) c.1130A>G c.294A>G (n.294A>G) c.799A>G (p.Thr267Ala) c.1177A>G (p.Thr393Ala) | |
| 8 | g.102208228T>G | CA371586065 | RRM2B | c.961A>C (p.Thr321Pro) n.348A>C c.805A>C (p.Thr269Pro) c.325A>C (p.Thr109Pro) c.106A>C (p.Thr36Pro) c.1130A>C c.294A>C (n.294A>C) c.799A>C (p.Thr267Pro) c.1177A>C (p.Thr393Pro) | |
| 8 | g.102208232del | CA2688143448 | RRM2B | c.961del (p.Thr321GlnfsTer?) n.348del c.805del (p.Thr269GlnfsTer?) c.325del (p.Thr109GlnfsTer?) c.106del (p.Thr36GlnfsTer?) c.1130del c.294del (n.294del) c.799del (p.Thr267GlnfsTer?) c.1177del (p.Thr393GlnfsTer?) | gnomAD v4 |
| 8 | g.102208229T>A | CA371586067 | RRM2B | c.960A>T (p.Lys320Asn) n.347A>T c.804A>T (p.Lys268Asn) c.324A>T (p.Lys108Asn) c.105A>T (p.Lys35Asn) c.1129A>T c.293A>T (n.293A>T) c.798A>T (p.Lys266Asn) c.1176A>T (p.Lys392Asn) | |
| 8 | g.102208229T>C | CA462123856 | RRM2B | c.960A>G (p.Lys320=) n.347A>G c.804A>G (p.Lys268=) c.324A>G (p.Lys108=) c.105A>G (p.Lys35=) c.1129A>G c.293A>G (n.293A>G) c.798A>G (p.Lys266=) c.1176A>G (p.Lys392=) | |
| 8 | g.102208229T>G | CA371586072 | RRM2B | c.960A>C (p.Lys320Asn) n.347A>C c.804A>C (p.Lys268Asn) c.324A>C (p.Lys108Asn) c.105A>C (p.Lys35Asn) c.1129A>C c.293A>C (n.293A>C) c.798A>C (p.Lys266Asn) c.1176A>C (p.Lys392Asn) | |
| 8 | g.102208230T>A | CA371586075 | RRM2B | c.959A>T (p.Lys320Ile) n.346A>T c.803A>T (p.Lys268Ile) c.323A>T (p.Lys108Ile) c.104A>T (p.Lys35Ile) c.1128A>T c.292A>T (n.292A>T) c.797A>T (p.Lys266Ile) c.1175A>T (p.Lys392Ile) | |
| 8 | g.102208230T>C | CA371586077 | RRM2B | c.959A>G (p.Lys320Arg) n.346A>G c.803A>G (p.Lys268Arg) c.323A>G (p.Lys108Arg) c.104A>G (p.Lys35Arg) c.1128A>G c.292A>G (n.292A>G) c.797A>G (p.Lys266Arg) c.1175A>G (p.Lys392Arg) | |
| 8 | g.102208230T>G | CA371586080 | RRM2B | c.959A>C (p.Lys320Thr) n.346A>C c.803A>C (p.Lys268Thr) c.323A>C (p.Lys108Thr) c.104A>C (p.Lys35Thr) c.1128A>C c.292A>C (n.292A>C) c.797A>C (p.Lys266Thr) c.1175A>C (p.Lys392Thr) | |
| 8 | g.102208231T>A | CA371586085 | RRM2B | c.958A>T (p.Lys320Ter) n.345A>T c.802A>T (p.Lys268Ter) c.322A>T (p.Lys108Ter) c.103A>T (p.Lys35Ter) c.1127A>T c.291A>T (n.291A>T) c.796A>T (p.Lys266Ter) c.1174A>T (p.Lys392Ter) | |
| 8 | g.102208231T>C | CA371586092 | RRM2B | c.958A>G (p.Lys320Glu) n.345A>G c.802A>G (p.Lys268Glu) c.322A>G (p.Lys108Glu) c.103A>G (p.Lys35Glu) c.1127A>G c.291A>G (n.291A>G) c.796A>G (p.Lys266Glu) c.1174A>G (p.Lys392Glu) | |
| 8 | g.102208231T>G | CA371586096 | RRM2B | c.958A>C (p.Lys320Gln) n.345A>C c.802A>C (p.Lys268Gln) c.322A>C (p.Lys108Gln) c.103A>C (p.Lys35Gln) c.1127A>C c.291A>C (n.291A>C) c.796A>C (p.Lys266Gln) c.1174A>C (p.Lys392Gln) | |
| 8 | g.102208232T>A | CA462123867 | RRM2B | c.957A>T (p.Gly319=) n.344A>T c.801A>T (p.Gly267=) c.321A>T (p.Gly107=) c.102A>T (p.Gly34=) c.1126A>T c.290A>T (n.290A>T) c.795A>T (p.Gly265=) c.1173A>T (p.Gly391=) | |
| 8 | g.102208232T>C | CA4830959 | RRM2B | c.957A>G (p.Gly319=) n.344A>G c.801A>G (p.Gly267=) c.321A>G (p.Gly107=) c.102A>G (p.Gly34=) c.1126A>G c.290A>G (n.290A>G) c.795A>G (p.Gly265=) c.1173A>G (p.Gly391=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.102208232T>G | CA462123874 | RRM2B | c.957A>C (p.Gly319=) n.344A>C c.801A>C (p.Gly267=) c.321A>C (p.Gly107=) c.102A>C (p.Gly34=) c.1126A>C c.290A>C (n.290A>C) c.795A>C (p.Gly265=) c.1173A>C (p.Gly391=) | dbSNP |
| 8 | g.102208232T= | CA1806674683 | RRM2B | c.957A= (p.Gly319=) n.344A= c.801A= (p.Gly267=) c.321A= (p.Gly107=) c.102A= (p.Gly34=) c.1126A= c.290A= (n.290A=) c.795A= (p.Gly265=) c.1173A= (p.Gly391=) | |
| 8 | g.102208233C>A | CA371586116 | RRM2B | c.956G>T (p.Gly319Val) n.343G>T c.800G>T (p.Gly267Val) c.320G>T (p.Gly107Val) c.101G>T (p.Gly34Val) c.1125G>T c.289G>T (n.289G>T) c.794G>T (p.Gly265Val) c.1172G>T (p.Gly391Val) | |
| 8 | g.102208233C= | CA1806674684 | RRM2B | c.956G= (p.Gly319=) n.343G= c.800G= (p.Gly267=) c.320G= (p.Gly107=) c.101G= (p.Gly34=) c.1125G= c.289G= (n.289G=) c.794G= (p.Gly265=) c.1172G= (p.Gly391=) | |
| 8 | g.102208233C>G | CA4830960 | RRM2B | c.956G>C (p.Gly319Ala) n.343G>C c.800G>C (p.Gly267Ala) c.320G>C (p.Gly107Ala) c.101G>C (p.Gly34Ala) c.1125G>C c.289G>C (n.289G>C) c.794G>C (p.Gly265Ala) c.1172G>C (p.Gly391Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.102208233C>T | CA371586120 | RRM2B | c.956G>A (p.Gly319Glu) n.343G>A c.800G>A (p.Gly267Glu) c.320G>A (p.Gly107Glu) c.101G>A (p.Gly34Glu) c.1125G>A c.289G>A (n.289G>A) c.794G>A (p.Gly265Glu) c.1172G>A (p.Gly391Glu) | |
| 8 | g.102208234C>A | CA371586124 | RRM2B | c.955G>T (p.Gly319Ter) n.342G>T c.799G>T (p.Gly267Ter) c.319G>T (p.Gly107Ter) c.100G>T (p.Gly34Ter) c.1124G>T c.288G>T (n.288G>T) c.793G>T (p.Gly265Ter) c.1171G>T (p.Gly391Ter) | |
| 8 | g.102208234C>G | CA371586129 | RRM2B | c.955G>C (p.Gly319Arg) n.342G>C c.799G>C (p.Gly267Arg) c.319G>C (p.Gly107Arg) c.100G>C (p.Gly34Arg) c.1124G>C c.288G>C (n.288G>C) c.793G>C (p.Gly265Arg) c.1171G>C (p.Gly391Arg) | |
| 8 | g.102208234C>T | CA371586131 | RRM2B | c.955G>A (p.Gly319Arg) n.342G>A c.799G>A (p.Gly267Arg) c.319G>A (p.Gly107Arg) c.100G>A (p.Gly34Arg) c.1124G>A c.288G>A (n.288G>A) c.793G>A (p.Gly265Arg) c.1171G>A (p.Gly391Arg) | |
| 8 | g.102208235T>A | CA371586136 | RRM2B | c.954A>T (p.Glu318Asp) n.341A>T c.798A>T (p.Glu266Asp) c.318A>T (p.Glu106Asp) c.99A>T (p.Glu33Asp) c.1123A>T c.287A>T (n.287A>T) c.792A>T (p.Glu264Asp) c.1170A>T (p.Glu390Asp) | |
| 8 | g.102208235T>C | CA462123884 | RRM2B | c.954A>G (p.Glu318=) n.341A>G c.798A>G (p.Glu266=) c.318A>G (p.Glu106=) c.99A>G (p.Glu33=) c.1123A>G c.287A>G (n.287A>G) c.792A>G (p.Glu264=) c.1170A>G (p.Glu390=) | |
| 8 | g.102208235T>G | CA371586133 | RRM2B | c.954A>C (p.Glu318Asp) n.341A>C c.798A>C (p.Glu266Asp) c.318A>C (p.Glu106Asp) c.99A>C (p.Glu33Asp) c.1123A>C c.287A>C (n.287A>C) c.792A>C (p.Glu264Asp) c.1170A>C (p.Glu390Asp) | |
| 8 | g.102208236T>A | CA371586141 | RRM2B | c.953A>T (p.Glu318Val) n.340A>T c.797A>T (p.Glu266Val) c.317A>T (p.Glu106Val) c.98A>T (p.Glu33Val) c.1122A>T c.286A>T (n.286A>T) c.791A>T (p.Glu264Val) c.1169A>T (p.Glu390Val) | |
| 8 | g.102208236T>C | CA371586145 | RRM2B | c.953A>G (p.Glu318Gly) n.340A>G c.797A>G (p.Glu266Gly) c.317A>G (p.Glu106Gly) c.98A>G (p.Glu33Gly) c.1122A>G c.286A>G (n.286A>G) c.791A>G (p.Glu264Gly) c.1169A>G (p.Glu390Gly) | |
| 8 | g.102208236T>G | CA371586148 | RRM2B | c.953A>C (p.Glu318Ala) n.340A>C c.797A>C (p.Glu266Ala) c.317A>C (p.Glu106Ala) c.98A>C (p.Glu33Ala) c.1122A>C c.286A>C (n.286A>C) c.791A>C (p.Glu264Ala) c.1169A>C (p.Glu390Ala) | |
| 8 | g.102208237C>A | CA345622 | RRM2B | c.952G>T (p.Glu318Ter) n.339G>T c.796G>T (p.Glu266Ter) c.316G>T (p.Glu106Ter) c.97G>T (p.Glu33Ter) c.1121G>T c.285G>T (n.285G>T) c.790G>T (p.Glu264Ter) c.1168G>T (p.Glu390Ter) | ClinVar dbSNP |
| 8 | g.102208237C= | CA1806674685 | RRM2B | c.952G= (p.Glu318=) n.339G= c.796G= (p.Glu266=) c.316G= (p.Glu106=) c.97G= (p.Glu33=) c.1121G= c.285G= (n.285G=) c.790G= (p.Glu264=) c.1168G= (p.Glu390=) | |
| 8 | g.102208237C>G | CA371586161 | RRM2B | c.952G>C (p.Glu318Gln) n.339G>C c.796G>C (p.Glu266Gln) c.316G>C (p.Glu106Gln) c.97G>C (p.Glu33Gln) c.1121G>C c.285G>C (n.285G>C) c.790G>C (p.Glu264Gln) c.1168G>C (p.Glu390Gln) | |
| 8 | g.102208237C>T | CA371586163 | RRM2B | c.952G>A (p.Glu318Lys) n.339G>A c.796G>A (p.Glu266Lys) c.316G>A (p.Glu106Lys) c.97G>A (p.Glu33Lys) c.1121G>A c.285G>A (n.285G>A) c.790G>A (p.Glu264Lys) c.1168G>A (p.Glu390Lys) | |
| 8 | g.102208238T>A | CA371586166 | RRM2B | c.951A>T (p.Leu317Phe) n.338A>T c.795A>T (p.Leu265Phe) c.315A>T (p.Leu105Phe) c.96A>T (p.Leu32Phe) c.1120A>T c.284A>T (n.284A>T) c.789A>T (p.Leu263Phe) c.1167A>T (p.Leu389Phe) | |
| 8 | g.102208238T>C | CA462123899 | RRM2B | c.951A>G (p.Leu317=) n.338A>G c.795A>G (p.Leu265=) c.315A>G (p.Leu105=) c.96A>G (p.Leu32=) c.1120A>G c.284A>G (n.284A>G) c.789A>G (p.Leu263=) c.1167A>G (p.Leu389=) | dbSNP |
| 8 | g.102208238T>G | CA371586173 | RRM2B | c.951A>C (p.Leu317Phe) n.338A>C c.795A>C (p.Leu265Phe) c.315A>C (p.Leu105Phe) c.96A>C (p.Leu32Phe) c.1120A>C c.284A>C (n.284A>C) c.789A>C (p.Leu263Phe) c.1167A>C (p.Leu389Phe) | |
| 8 | g.102208238_102208239delinsTA | CA1806674686 | RRM2B | c.950_951delinsTA (p.Leu317=) n.337_338delinsTA c.794_795delinsTA (p.Leu265=) c.314_315delinsTA (p.Leu105=) c.95_96delinsTA (p.Leu32=) c.1119_1120delinsTA c.283_284delinsTA (n.283_284delinsTA) c.788_789delinsTA (p.Leu263=) c.1166_1167delinsTA (p.Leu389=) | |
| 8 | g.102208239A>C | CA371586174 | RRM2B | c.950T>G (p.Leu317Ter) n.337T>G c.794T>G (p.Leu265Ter) c.314T>G (p.Leu105Ter) c.95T>G (p.Leu32Ter) c.1119T>G c.283T>G (n.283T>G) c.788T>G (p.Leu263Ter) c.1166T>G (p.Leu389Ter) | |
| 8 | g.102208239A>G | CA371586175 | RRM2B | c.950T>C (p.Leu317Ser) n.337T>C c.794T>C (p.Leu265Ser) c.314T>C (p.Leu105Ser) c.95T>C (p.Leu32Ser) c.1119T>C c.283T>C (n.283T>C) c.788T>C (p.Leu263Ser) c.1166T>C (p.Leu389Ser) | |
| 8 | g.102208239A>T | CA371586177 | RRM2B | c.950T>A (p.Leu317Ter) n.337T>A c.794T>A (p.Leu265Ter) c.314T>A (p.Leu105Ter) c.95T>A (p.Leu32Ter) c.1119T>A c.283T>A (n.283T>A) c.788T>A (p.Leu263Ter) c.1166T>A (p.Leu389Ter) | |
| 8 | g.102208241del | CA213025 | RRM2B | c.950del (p.Leu317Ter) n.337del c.794del (p.Leu265Ter) c.314del (p.Leu105Ter) c.95del (p.Leu32Ter) c.1119del c.283del (n.283del) c.788del (p.Leu263Ter) c.1166del (p.Leu389Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.102208240A= | CA1806674687 | RRM2B | c.949T= (p.Leu317=) n.336T= c.793T= (p.Leu265=) c.313T= (p.Leu105=) c.94T= (p.Leu32=) c.1118T= c.282T= (n.282T=) c.787T= (p.Leu263=) c.1165T= (p.Leu389=) | |
| 8 | g.102208240A>C | CA345618 | RRM2B | c.949T>G (p.Leu317Val) n.336T>G c.793T>G (p.Leu265Val) c.313T>G (p.Leu105Val) c.94T>G (p.Leu32Val) c.1118T>G c.282T>G (n.282T>G) c.787T>G (p.Leu263Val) c.1165T>G (p.Leu389Val) | ClinVar dbSNP |
| 8 | g.102208240A>G | CA462123904 | RRM2B | c.949T>C (p.Leu317=) n.336T>C c.793T>C (p.Leu265=) c.313T>C (p.Leu105=) c.94T>C (p.Leu32=) c.1118T>C c.282T>C (n.282T>C) c.787T>C (p.Leu263=) c.1165T>C (p.Leu389=) | |
| 8 | g.102208240A>T | CA371586180 | RRM2B | c.949T>A (p.Leu317Ile) n.336T>A c.793T>A (p.Leu265Ile) c.313T>A (p.Leu105Ile) c.94T>A (p.Leu32Ile) c.1118T>A c.282T>A (n.282T>A) c.787T>A (p.Leu263Ile) c.1165T>A (p.Leu389Ile) | |
| 8 | g.102208241A>C | CA462123907 | RRM2B | c.948T>G (p.Ser316=) n.335T>G c.792T>G (p.Ser264=) c.312T>G (p.Ser104=) c.93T>G (p.Ser31=) c.1117T>G c.281T>G (n.281T>G) c.786T>G (p.Ser262=) c.1164T>G (p.Ser388=) | |
| 8 | g.102208241A>G | CA462123908 | RRM2B | c.948T>C (p.Ser316=) n.335T>C c.792T>C (p.Ser264=) c.312T>C (p.Ser104=) c.93T>C (p.Ser31=) c.1117T>C c.281T>C (n.281T>C) c.786T>C (p.Ser262=) c.1164T>C (p.Ser388=) | |
| 8 | g.102208241A>T | CA462123910 | RRM2B | c.948T>A (p.Ser316=) n.335T>A c.792T>A (p.Ser264=) c.312T>A (p.Ser104=) c.93T>A (p.Ser31=) c.1117T>A c.281T>A (n.281T>A) c.786T>A (p.Ser262=) c.1164T>A (p.Ser388=) | |
| 8 | g.102208242G>A | CA371586182 | RRM2B | c.947C>T (p.Ser316Phe) n.334C>T c.791C>T (p.Ser264Phe) c.311C>T (p.Ser104Phe) c.92C>T (p.Ser31Phe) c.1116C>T c.280C>T (n.280C>T) c.785C>T (p.Ser262Phe) c.1163C>T (p.Ser388Phe) | gnomAD v4 |
| 8 | g.102208242G>C | CA371586186 | RRM2B | c.947C>G (p.Ser316Cys) n.334C>G c.791C>G (p.Ser264Cys) c.311C>G (p.Ser104Cys) c.92C>G (p.Ser31Cys) c.1116C>G c.280C>G (n.280C>G) c.785C>G (p.Ser262Cys) c.1163C>G (p.Ser388Cys) | COSMIC |
| 8 | g.102208242G>T | CA371586181 | RRM2B | c.947C>A (p.Ser316Tyr) n.334C>A c.791C>A (p.Ser264Tyr) c.311C>A (p.Ser104Tyr) c.92C>A (p.Ser31Tyr) c.1116C>A c.280C>A (n.280C>A) c.785C>A (p.Ser262Tyr) c.1163C>A (p.Ser388Tyr) | gnomAD v4 COSMIC |
| 8 | g.102208243A= | CA1806674688 | RRM2B | c.946T= (p.Ser316=) n.333T= c.790T= (p.Ser264=) c.310T= (p.Ser104=) c.91T= (p.Ser31=) c.1115T= c.279T= (n.279T=) c.784T= (p.Ser262=) c.1162T= (p.Ser388=) | |
| 8 | g.102208243A>C | CA371586189 | RRM2B | c.946T>G (p.Ser316Ala) n.333T>G c.790T>G (p.Ser264Ala) c.310T>G (p.Ser104Ala) c.91T>G (p.Ser31Ala) c.1115T>G c.279T>G (n.279T>G) c.784T>G (p.Ser262Ala) c.1162T>G (p.Ser388Ala) | gnomAD v4 |
| 8 | g.102208243A>G | CA371586194 | RRM2B | c.946T>C (p.Ser316Pro) n.333T>C c.790T>C (p.Ser264Pro) c.310T>C (p.Ser104Pro) c.91T>C (p.Ser31Pro) c.1115T>C c.279T>C (n.279T>C) c.784T>C (p.Ser262Pro) c.1162T>C (p.Ser388Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102208243A>T | CA371586191 | RRM2B | c.946T>A (p.Ser316Thr) n.333T>A c.790T>A (p.Ser264Thr) c.310T>A (p.Ser104Thr) c.91T>A (p.Ser31Thr) c.1115T>A c.279T>A (n.279T>A) c.784T>A (p.Ser262Thr) c.1162T>A (p.Ser388Thr) | |
| 8 | g.102208244A>C | CA371586199 | RRM2B | c.945T>G (p.Ile315Met) n.332T>G c.789T>G (p.Ile263Met) c.309T>G (p.Ile103Met) c.90T>G (p.Ile30Met) c.1114T>G c.278T>G (n.278T>G) c.783T>G (p.Ile261Met) c.1161T>G (p.Ile387Met) | |
| 8 | g.102208244A>G | CA462123925 | RRM2B | c.945T>C (p.Ile315=) n.332T>C c.789T>C (p.Ile263=) c.309T>C (p.Ile103=) c.90T>C (p.Ile30=) c.1114T>C c.278T>C (n.278T>C) c.783T>C (p.Ile261=) c.1161T>C (p.Ile387=) | |
| 8 | g.102208244A>T | CA462123926 | RRM2B | c.945T>A (p.Ile315=) n.332T>A c.789T>A (p.Ile263=) c.309T>A (p.Ile103=) c.90T>A (p.Ile30=) c.1114T>A c.278T>A (n.278T>A) c.783T>A (p.Ile261=) c.1161T>A (p.Ile387=) | |
| 8 | g.102208245A>C | CA371586208 | RRM2B | c.944T>G (p.Ile315Ser) n.331T>G c.788T>G (p.Ile263Ser) c.308T>G (p.Ile103Ser) c.89T>G (p.Ile30Ser) c.1113T>G c.277T>G (n.277T>G) c.782T>G (p.Ile261Ser) c.1160T>G (p.Ile387Ser) | |
| 8 | g.102208245A>G | CA371586205 | RRM2B | c.944T>C (p.Ile315Thr) n.331T>C c.788T>C (p.Ile263Thr) c.308T>C (p.Ile103Thr) c.89T>C (p.Ile30Thr) c.1113T>C c.277T>C (n.277T>C) c.782T>C (p.Ile261Thr) c.1160T>C (p.Ile387Thr) | |
| 8 | g.102208245A>T | CA371586213 | RRM2B | c.944T>A (p.Ile315Asn) n.331T>A c.788T>A (p.Ile263Asn) c.308T>A (p.Ile103Asn) c.89T>A (p.Ile30Asn) c.1113T>A c.277T>A (n.277T>A) c.782T>A (p.Ile261Asn) c.1160T>A (p.Ile387Asn) | |
| 8 | g.102208246T>A | CA371586218 | RRM2B | c.943A>T (p.Ile315Phe) n.330A>T c.787A>T (p.Ile263Phe) c.307A>T (p.Ile103Phe) c.88A>T (p.Ile30Phe) c.1112A>T c.276A>T (n.276A>T) c.781A>T (p.Ile261Phe) c.1159A>T (p.Ile387Phe) | |
| 8 | g.102208246T>C | CA371586225 | RRM2B | c.943A>G (p.Ile315Val) n.330A>G c.787A>G (p.Ile263Val) c.307A>G (p.Ile103Val) c.88A>G (p.Ile30Val) c.1112A>G c.276A>G (n.276A>G) c.781A>G (p.Ile261Val) c.1159A>G (p.Ile387Val) | gnomAD v4 |
| 8 | g.102208246T>G | CA371586222 | RRM2B | c.943A>C (p.Ile315Leu) n.330A>C c.787A>C (p.Ile263Leu) c.307A>C (p.Ile103Leu) c.88A>C (p.Ile30Leu) c.1112A>C c.276A>C (n.276A>C) c.781A>C (p.Ile261Leu) c.1159A>C (p.Ile387Leu) | |
| 8 | g.102208247G>A | CA462123940 | RRM2B | c.942C>T (p.Asn314=) n.329C>T c.786C>T (p.Asn262=) c.306C>T (p.Asn102=) c.87C>T (p.Asn29=) c.1111C>T c.275C>T (n.275C>T) c.780C>T (p.Asn260=) c.1158C>T (p.Asn386=) | |
| 8 | g.102208247G>C | CA371586233 | RRM2B | c.942C>G (p.Asn314Lys) n.329C>G c.786C>G (p.Asn262Lys) c.306C>G (p.Asn102Lys) c.87C>G (p.Asn29Lys) c.1111C>G c.275C>G (n.275C>G) c.780C>G (p.Asn260Lys) c.1158C>G (p.Asn386Lys) | dbSNP |
| 8 | g.102208247G>T | CA371586235 | RRM2B | c.942C>A (p.Asn314Lys) n.329C>A c.786C>A (p.Asn262Lys) c.306C>A (p.Asn102Lys) c.87C>A (p.Asn29Lys) c.1111C>A c.275C>A (n.275C>A) c.780C>A (p.Asn260Lys) c.1158C>A (p.Asn386Lys) | |
| 8 | g.102208248T>A | CA371586239 | RRM2B | c.941A>T (p.Asn314Ile) n.328A>T c.785A>T (p.Asn262Ile) c.305A>T (p.Asn102Ile) c.86A>T (p.Asn29Ile) c.1110A>T c.274A>T (n.274A>T) c.779A>T (p.Asn260Ile) c.1157A>T (p.Asn386Ile) | dbSNP |
| 8 | g.102208248T>C | CA371586242 | RRM2B | c.941A>G (p.Asn314Ser) n.328A>G c.785A>G (p.Asn262Ser) c.305A>G (p.Asn102Ser) c.86A>G (p.Asn29Ser) c.1110A>G c.274A>G (n.274A>G) c.779A>G (p.Asn260Ser) c.1157A>G (p.Asn386Ser) | |
| 8 | g.102208248T>G | CA371586246 | RRM2B | c.941A>C (p.Asn314Thr) n.328A>C c.785A>C (p.Asn262Thr) c.305A>C (p.Asn102Thr) c.86A>C (p.Asn29Thr) c.1110A>C c.274A>C (n.274A>C) c.779A>C (p.Asn260Thr) c.1157A>C (p.Asn386Thr) | |
| 8 | g.102208251del | CA2580078498 | RRM2B | c.941del (p.Asn314ThrfsTer4) n.328del c.785del (p.Asn262ThrfsTer4) c.305del (p.Asn102ThrfsTer4) c.86del (p.Asn29ThrfsTer4) c.1110del c.274del (n.274del) c.779del (p.Asn260ThrfsTer4) c.1157del (p.Asn386ThrfsTer4) | ClinVar |
| 8 | g.102208249T>A | CA371586250 | RRM2B | c.940A>T (p.Asn314Tyr) n.327A>T c.784A>T (p.Asn262Tyr) c.304A>T (p.Asn102Tyr) c.85A>T (p.Asn29Tyr) c.1109A>T c.273A>T (n.273A>T) c.778A>T (p.Asn260Tyr) c.1156A>T (p.Asn386Tyr) | ClinVar |
| 8 | g.102208249T>C | CA371586252 | RRM2B | c.940A>G (p.Asn314Asp) n.327A>G c.784A>G (p.Asn262Asp) c.304A>G (p.Asn102Asp) c.85A>G (p.Asn29Asp) c.1109A>G c.273A>G (n.273A>G) c.778A>G (p.Asn260Asp) c.1156A>G (p.Asn386Asp) | |
| 8 | g.102208249T>G | CA371586255 | RRM2B | c.940A>C (p.Asn314His) n.327A>C c.784A>C (p.Asn262His) c.304A>C (p.Asn102His) c.85A>C (p.Asn29His) c.1109A>C c.273A>C (n.273A>C) c.778A>C (p.Asn260His) c.1156A>C (p.Asn386His) | |
| 8 | g.102208250T>A | CA371586261 | RRM2B | c.939A>T (p.Glu313Asp) n.326A>T c.783A>T (p.Glu261Asp) c.303A>T (p.Glu101Asp) c.84A>T (p.Glu28Asp) c.1108A>T c.272A>T (n.272A>T) c.777A>T (p.Glu259Asp) c.1155A>T (p.Glu385Asp) | |
| 8 | g.102208250T>C | CA462123944 | RRM2B | c.939A>G (p.Glu313=) n.326A>G c.783A>G (p.Glu261=) c.303A>G (p.Glu101=) c.84A>G (p.Glu28=) c.1108A>G c.272A>G (n.272A>G) c.777A>G (p.Glu259=) c.1155A>G (p.Glu385=) | |
| 8 | g.102208250T>G | CA371586263 | RRM2B | c.939A>C (p.Glu313Asp) n.326A>C c.783A>C (p.Glu261Asp) c.303A>C (p.Glu101Asp) c.84A>C (p.Glu28Asp) c.1108A>C c.272A>C (n.272A>C) c.777A>C (p.Glu259Asp) c.1155A>C (p.Glu385Asp) | |
| 8 | g.102208251T>A | CA371586271 | RRM2B | c.938A>T (p.Glu313Val) n.325A>T c.782A>T (p.Glu261Val) c.302A>T (p.Glu101Val) c.83A>T (p.Glu28Val) c.1107A>T c.271A>T (n.271A>T) c.776A>T (p.Glu259Val) c.1154A>T (p.Glu385Val) | |
| 8 | g.102208251T>C | CA371586267 | RRM2B | c.938A>G (p.Glu313Gly) n.325A>G c.782A>G (p.Glu261Gly) c.302A>G (p.Glu101Gly) c.83A>G (p.Glu28Gly) c.1107A>G c.271A>G (n.271A>G) c.776A>G (p.Glu259Gly) c.1154A>G (p.Glu385Gly) | gnomAD v4 |
| 8 | g.102208251T>G | CA371586265 | RRM2B | c.938A>C (p.Glu313Ala) n.325A>C c.782A>C (p.Glu261Ala) c.302A>C (p.Glu101Ala) c.83A>C (p.Glu28Ala) c.1107A>C c.271A>C (n.271A>C) c.776A>C (p.Glu259Ala) c.1154A>C (p.Glu385Ala) | |
| 8 | g.102208252C>A | CA371586277 | RRM2B | c.937G>T (p.Glu313Ter) n.324G>T c.781G>T (p.Glu261Ter) c.301G>T (p.Glu101Ter) c.82G>T (p.Glu28Ter) c.1106G>T c.270G>T (n.270G>T) c.775G>T (p.Glu259Ter) c.1153G>T (p.Glu385Ter) | |
| 8 | g.102208252C>G | CA371586281 | RRM2B | c.937G>C (p.Glu313Gln) n.324G>C c.781G>C (p.Glu261Gln) c.301G>C (p.Glu101Gln) c.82G>C (p.Glu28Gln) c.1106G>C c.270G>C (n.270G>C) c.775G>C (p.Glu259Gln) c.1153G>C (p.Glu385Gln) | |
| 8 | g.102208252C>T | CA371586283 | RRM2B | c.937G>A (p.Glu313Lys) n.324G>A c.781G>A (p.Glu261Lys) c.301G>A (p.Glu101Lys) c.82G>A (p.Glu28Lys) c.1106G>A c.270G>A (n.270G>A) c.775G>A (p.Glu259Lys) c.1153G>A (p.Glu385Lys) | |
| 8 | g.102208253C>A | CA371586290 | RRM2B | c.936G>T (p.Met312Ile) n.323G>T c.780G>T (p.Met260Ile) c.300G>T (p.Met100Ile) c.81G>T (p.Met27Ile) c.1105G>T c.269G>T (n.269G>T) c.774G>T (p.Met258Ile) c.1152G>T (p.Met384Ile) | |
| 8 | g.102208253C>G | CA371586294 | RRM2B | c.936G>C (p.Met312Ile) n.323G>C c.780G>C (p.Met260Ile) c.300G>C (p.Met100Ile) c.81G>C (p.Met27Ile) c.1105G>C c.269G>C (n.269G>C) c.774G>C (p.Met258Ile) c.1152G>C (p.Met384Ile) | |
| 8 | g.102208253C>T | CA371586297 | RRM2B | c.936G>A (p.Met312Ile) n.323G>A c.780G>A (p.Met260Ile) c.300G>A (p.Met100Ile) c.81G>A (p.Met27Ile) c.1105G>A c.269G>A (n.269G>A) c.774G>A (p.Met258Ile) c.1152G>A (p.Met384Ile) | |
| 8 | g.102208254A>C | CA371586301 | RRM2B | c.935T>G (p.Met312Arg) n.322T>G c.779T>G (p.Met260Arg) c.299T>G (p.Met100Arg) c.80T>G (p.Met27Arg) c.1104T>G c.268T>G (n.268T>G) c.773T>G (p.Met258Arg) c.1151T>G (p.Met384Arg) | |
| 8 | g.102208254A>G | CA371586303 | RRM2B | c.935T>C (p.Met312Thr) n.322T>C c.779T>C (p.Met260Thr) c.299T>C (p.Met100Thr) c.80T>C (p.Met27Thr) c.1104T>C c.268T>C (n.268T>C) c.773T>C (p.Met258Thr) c.1151T>C (p.Met384Thr) | |
| 8 | g.102208254A>T | CA371586305 | RRM2B | c.935T>A (p.Met312Lys) n.322T>A c.779T>A (p.Met260Lys) c.299T>A (p.Met100Lys) c.80T>A (p.Met27Lys) c.1104T>A c.268T>A (n.268T>A) c.773T>A (p.Met258Lys) c.1151T>A (p.Met384Lys) | |
| 8 | g.102208254_102208255insGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCG | CA2688143449 | RRM2B | c.934_935insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met312ThrfsTer24) n.321_322insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC c.778_779insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met260ThrfsTer24) c.298_299insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met100ThrfsTer24) c.79_80insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met27ThrfsTer24) c.1103_1104insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC c.267_268insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (n.267_268insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC) c.772_773insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met258ThrfsTer24) c.1150_1151insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met384ThrfsTer24) | gnomAD v4 |
| 8 | g.102208255T>A | CA371586307 | RRM2B | c.934A>T (p.Met312Leu) n.321A>T c.778A>T (p.Met260Leu) c.298A>T (p.Met100Leu) c.79A>T (p.Met27Leu) c.1103A>T c.267A>T (n.267A>T) c.772A>T (p.Met258Leu) c.1150A>T (p.Met384Leu) | |
| 8 | g.102208255T>C | CA4830961 | RRM2B | c.934A>G (p.Met312Val) n.321A>G c.778A>G (p.Met260Val) c.298A>G (p.Met100Val) c.79A>G (p.Met27Val) c.1103A>G c.267A>G (n.267A>G) c.772A>G (p.Met258Val) c.1150A>G (p.Met384Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.102208255T>G | CA371586312 | RRM2B | c.934A>C (p.Met312Leu) n.321A>C c.778A>C (p.Met260Leu) c.298A>C (p.Met100Leu) c.79A>C (p.Met27Leu) c.1103A>C c.267A>C (n.267A>C) c.772A>C (p.Met258Leu) c.1150A>C (p.Met384Leu) | |
| 8 | g.102208255T= | CA1806674689 | RRM2B | c.934A= (p.Met312=) n.321A= c.778A= (p.Met260=) c.298A= (p.Met100=) c.79A= (p.Met27=) c.1103A= c.267A= (n.267A=) c.772A= (p.Met258=) c.1150A= (p.Met384=) | |
| 8 | g.102208256A= | CA1806674690 | RRM2B | c.933T= (p.Phe311=) n.320T= c.777T= (p.Phe259=) c.297T= (p.Phe99=) c.78T= (p.Phe26=) c.1102T= c.266T= (n.266T=) c.771T= (p.Phe257=) c.1149T= (p.Phe383=) | |
| 8 | g.102208256A>C | CA371586322 | RRM2B | c.933T>G (p.Phe311Leu) n.320T>G c.777T>G (p.Phe259Leu) c.297T>G (p.Phe99Leu) c.78T>G (p.Phe26Leu) c.1102T>G c.266T>G (n.266T>G) c.771T>G (p.Phe257Leu) c.1149T>G (p.Phe383Leu) | |
| 8 | g.102208256A>G | CA462123960 | RRM2B | c.933T>C (p.Phe311=) n.320T>C c.777T>C (p.Phe259=) c.297T>C (p.Phe99=) c.78T>C (p.Phe26=) c.1102T>C c.266T>C (n.266T>C) c.771T>C (p.Phe257=) c.1149T>C (p.Phe383=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102208256A>T | CA371586318 | RRM2B | c.933T>A (p.Phe311Leu) n.320T>A c.777T>A (p.Phe259Leu) c.297T>A (p.Phe99Leu) c.78T>A (p.Phe26Leu) c.1102T>A c.266T>A (n.266T>A) c.771T>A (p.Phe257Leu) c.1149T>A (p.Phe383Leu) | |
| 8 | g.102208257A>C | CA371586323 | RRM2B | c.932T>G (p.Phe311Cys) n.319T>G c.776T>G (p.Phe259Cys) c.296T>G (p.Phe99Cys) c.77T>G (p.Phe26Cys) c.1101T>G c.265T>G (n.265T>G) c.770T>G (p.Phe257Cys) c.1148T>G (p.Phe383Cys) | |
| 8 | g.102208257A>G | CA371586324 | RRM2B | c.932T>C (p.Phe311Ser) n.319T>C c.776T>C (p.Phe259Ser) c.296T>C (p.Phe99Ser) c.77T>C (p.Phe26Ser) c.1101T>C c.265T>C (n.265T>C) c.770T>C (p.Phe257Ser) c.1148T>C (p.Phe383Ser) | |
| 8 | g.102208257A>T | CA371586325 | RRM2B | c.932T>A (p.Phe311Tyr) n.319T>A c.776T>A (p.Phe259Tyr) c.296T>A (p.Phe99Tyr) c.77T>A (p.Phe26Tyr) c.1101T>A c.265T>A (n.265T>A) c.770T>A (p.Phe257Tyr) c.1148T>A (p.Phe383Tyr) | |
| 8 | g.102208258A>C | CA371586329 | RRM2B | c.931T>G (p.Phe311Val) n.318T>G c.775T>G (p.Phe259Val) c.295T>G (p.Phe99Val) c.76T>G (p.Phe26Val) c.1100T>G c.264T>G (n.264T>G) c.769T>G (p.Phe257Val) c.1147T>G (p.Phe383Val) | |
| 8 | g.102208258A>G | CA371586333 | RRM2B | c.931T>C (p.Phe311Leu) n.318T>C c.775T>C (p.Phe259Leu) c.295T>C (p.Phe99Leu) c.76T>C (p.Phe26Leu) c.1100T>C c.264T>C (n.264T>C) c.769T>C (p.Phe257Leu) c.1147T>C (p.Phe383Leu) | |
| 8 | g.102208258A>T | CA371586337 | RRM2B | c.931T>A (p.Phe311Ile) n.318T>A c.775T>A (p.Phe259Ile) c.295T>A (p.Phe99Ile) c.76T>A (p.Phe26Ile) c.1100T>A c.264T>A (n.264T>A) c.769T>A (p.Phe257Ile) c.1147T>A (p.Phe383Ile) | |
| 8 | g.102208259A>C | CA371586342 | RRM2B | c.930T>G (p.Asp310Glu) n.317T>G c.774T>G (p.Asp258Glu) c.294T>G (p.Asp98Glu) c.75T>G (p.Asp25Glu) c.1099T>G c.263T>G (n.263T>G) c.768T>G (p.Asp256Glu) c.1146T>G (p.Asp382Glu) | |
| 8 | g.102208259A>G | CA462123970 | RRM2B | c.930T>C (p.Asp310=) n.317T>C c.774T>C (p.Asp258=) c.294T>C (p.Asp98=) c.75T>C (p.Asp25=) c.1099T>C c.263T>C (n.263T>C) c.768T>C (p.Asp256=) c.1146T>C (p.Asp382=) | gnomAD v4 |
| 8 | g.102208259A>T | CA371586346 | RRM2B | c.930T>A (p.Asp310Glu) n.317T>A c.774T>A (p.Asp258Glu) c.294T>A (p.Asp98Glu) c.75T>A (p.Asp25Glu) c.1099T>A c.263T>A (n.263T>A) c.768T>A (p.Asp256Glu) c.1146T>A (p.Asp382Glu) | |
| 8 | g.102208260T>A | CA371586352 | RRM2B | c.929A>T (p.Asp310Val) n.316A>T c.773A>T (p.Asp258Val) c.293A>T (p.Asp98Val) c.74A>T (p.Asp25Val) c.1098A>T c.262A>T (n.262A>T) c.767A>T (p.Asp256Val) c.1145A>T (p.Asp382Val) | dbSNP |
| 8 | g.102208260T>C | CA371586360 | RRM2B | c.929A>G (p.Asp310Gly) n.316A>G c.773A>G (p.Asp258Gly) c.293A>G (p.Asp98Gly) c.74A>G (p.Asp25Gly) c.1098A>G c.262A>G (n.262A>G) c.767A>G (p.Asp256Gly) c.1145A>G (p.Asp382Gly) | |
| 8 | g.102208260T>G | CA371586362 | RRM2B | c.929A>C (p.Asp310Ala) n.316A>C c.773A>C (p.Asp258Ala) c.293A>C (p.Asp98Ala) c.74A>C (p.Asp25Ala) c.1098A>C c.262A>C (n.262A>C) c.767A>C (p.Asp256Ala) c.1145A>C (p.Asp382Ala) | |
| 8 | g.102208260T= | CA1806674691 | RRM2B | c.929A= (p.Asp310=) n.316A= c.773A= (p.Asp258=) c.293A= (p.Asp98=) c.74A= (p.Asp25=) c.1098A= c.262A= (n.262A=) c.767A= (p.Asp256=) c.1145A= (p.Asp382=) | |
| 8 | g.102208261C>A | CA371586374 | RRM2B | c.928G>T (p.Asp310Tyr) n.315G>T c.772G>T (p.Asp258Tyr) c.292G>T (p.Asp98Tyr) c.73G>T (p.Asp25Tyr) c.1097G>T c.261G>T (n.261G>T) c.766G>T (p.Asp256Tyr) c.1144G>T (p.Asp382Tyr) | |
| 8 | g.102208261C>G | CA371586377 | RRM2B | c.928G>C (p.Asp310His) n.315G>C c.772G>C (p.Asp258His) c.292G>C (p.Asp98His) c.73G>C (p.Asp25His) c.1097G>C c.261G>C (n.261G>C) c.766G>C (p.Asp256His) c.1144G>C (p.Asp382His) | |
| 8 | g.102208261C>T | CA371586378 | RRM2B | c.928G>A (p.Asp310Asn) n.315G>A c.772G>A (p.Asp258Asn) c.292G>A (p.Asp98Asn) c.73G>A (p.Asp25Asn) c.1097G>A c.261G>A (n.261G>A) c.766G>A (p.Asp256Asn) c.1144G>A (p.Asp382Asn) | |
| 8 | g.102208262A= | CA1806674692 | RRM2B | c.927T= (p.Phe309=) n.314T= c.771T= (p.Phe257=) c.291T= (p.Phe97=) c.72T= (p.Phe24=) c.1096T= c.260T= (n.260T=) c.765T= (p.Phe255=) c.1143T= (p.Phe381=) | |
| 8 | g.102208262A>C | CA371586380 | RRM2B | c.927T>G (p.Phe309Leu) n.314T>G c.771T>G (p.Phe257Leu) c.291T>G (p.Phe97Leu) c.72T>G (p.Phe24Leu) c.1096T>G c.260T>G (n.260T>G) c.765T>G (p.Phe255Leu) c.1143T>G (p.Phe381Leu) | |
| 8 | g.102208262A>G | CA462123975 | RRM2B | c.927T>C (p.Phe309=) n.314T>C c.771T>C (p.Phe257=) c.291T>C (p.Phe97=) c.72T>C (p.Phe24=) c.1096T>C c.260T>C (n.260T>C) c.765T>C (p.Phe255=) c.1143T>C (p.Phe381=) | ClinVar dbSNP |
| 8 | g.102208262A>T | CA371586383 | RRM2B | c.927T>A (p.Phe309Leu) n.314T>A c.771T>A (p.Phe257Leu) c.291T>A (p.Phe97Leu) c.72T>A (p.Phe24Leu) c.1096T>A c.260T>A (n.260T>A) c.765T>A (p.Phe255Leu) c.1143T>A (p.Phe381Leu) | gnomAD v4 |
| 8 | g.102208263A>C | CA371586384 | RRM2B | c.926T>G (p.Phe309Cys) n.313T>G c.770T>G (p.Phe257Cys) c.290T>G (p.Phe97Cys) c.71T>G (p.Phe24Cys) c.1095T>G c.259T>G (n.259T>G) c.764T>G (p.Phe255Cys) c.1142T>G (p.Phe381Cys) | |
| 8 | g.102208263A>G | CA371586385 | RRM2B | c.926T>C (p.Phe309Ser) n.313T>C c.770T>C (p.Phe257Ser) c.290T>C (p.Phe97Ser) c.71T>C (p.Phe24Ser) c.1095T>C c.259T>C (n.259T>C) c.764T>C (p.Phe255Ser) c.1142T>C (p.Phe381Ser) | gnomAD v4 |
| 8 | g.102208263A>T | CA371586386 | RRM2B | c.926T>A (p.Phe309Tyr) n.313T>A c.770T>A (p.Phe257Tyr) c.290T>A (p.Phe97Tyr) c.71T>A (p.Phe24Tyr) c.1095T>A c.259T>A (n.259T>A) c.764T>A (p.Phe255Tyr) c.1142T>A (p.Phe381Tyr) | |
| 8 | g.102208264A>C | CA371586389 | RRM2B | c.925T>G (p.Phe309Val) n.312T>G c.769T>G (p.Phe257Val) c.289T>G (p.Phe97Val) c.70T>G (p.Phe24Val) c.1094T>G c.258T>G (n.258T>G) c.763T>G (p.Phe255Val) c.1141T>G (p.Phe381Val) | |
| 8 | g.102208264A>G | CA371586391 | RRM2B | c.925T>C (p.Phe309Leu) n.312T>C c.769T>C (p.Phe257Leu) c.289T>C (p.Phe97Leu) c.70T>C (p.Phe24Leu) c.1094T>C c.258T>C (n.258T>C) c.763T>C (p.Phe255Leu) c.1141T>C (p.Phe381Leu) | |
| 8 | g.102208264A>T | CA371586395 | RRM2B | c.925T>A (p.Phe309Ile) n.312T>A c.769T>A (p.Phe257Ile) c.289T>A (p.Phe97Ile) c.70T>A (p.Phe24Ile) c.1094T>A c.258T>A (n.258T>A) c.763T>A (p.Phe255Ile) c.1141T>A (p.Phe381Ile) | |
| 8 | g.102208265A>C | CA462123990 | RRM2B | c.924T>G (p.Pro308=) n.311T>G c.768T>G (p.Pro256=) c.288T>G (p.Pro96=) c.69T>G (p.Pro23=) c.1093T>G c.257T>G (n.257T>G) c.762T>G (p.Pro254=) c.1140T>G (p.Pro380=) | |
| 8 | g.102208265A>G | CA462123993 | RRM2B | c.924T>C (p.Pro308=) n.311T>C c.768T>C (p.Pro256=) c.288T>C (p.Pro96=) c.69T>C (p.Pro23=) c.1093T>C c.257T>C (n.257T>C) c.762T>C (p.Pro254=) c.1140T>C (p.Pro380=) | |
| 8 | g.102208265A>T | CA462123995 | RRM2B | c.924T>A (p.Pro308=) n.311T>A c.768T>A (p.Pro256=) c.288T>A (p.Pro96=) c.69T>A (p.Pro23=) c.1093T>A c.257T>A (n.257T>A) c.762T>A (p.Pro254=) c.1140T>A (p.Pro380=) | |
| 8 | g.102208266G>A | CA371586398 | RRM2B | c.923C>T (p.Pro308Leu) n.310C>T c.767C>T (p.Pro256Leu) c.287C>T (p.Pro96Leu) c.68C>T (p.Pro23Leu) c.1092C>T c.256C>T (n.256C>T) c.761C>T (p.Pro254Leu) c.1139C>T (p.Pro380Leu) | COSMIC |
| 8 | g.102208266G>C | CA371586406 | RRM2B | c.923C>G (p.Pro308Arg) n.310C>G c.767C>G (p.Pro256Arg) c.287C>G (p.Pro96Arg) c.68C>G (p.Pro23Arg) c.1092C>G c.256C>G (n.256C>G) c.761C>G (p.Pro254Arg) c.1139C>G (p.Pro380Arg) | |
| 8 | g.102208266G>T | CA371586408 | RRM2B | c.923C>A (p.Pro308His) n.310C>A c.767C>A (p.Pro256His) c.287C>A (p.Pro96His) c.68C>A (p.Pro23His) c.1092C>A c.256C>A (n.256C>A) c.761C>A (p.Pro254His) c.1139C>A (p.Pro380His) | |
| 8 | g.102208267G>A | CA4830962 | RRM2B | c.922C>T (p.Pro308Ser) n.309C>T c.766C>T (p.Pro256Ser) c.286C>T (p.Pro96Ser) c.67C>T (p.Pro23Ser) c.1091C>T c.255C>T (n.255C>T) c.760C>T (p.Pro254Ser) c.1138C>T (p.Pro380Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.102208267G>C | CA371586414 | RRM2B | c.922C>G (p.Pro308Ala) n.309C>G c.766C>G (p.Pro256Ala) c.286C>G (p.Pro96Ala) c.67C>G (p.Pro23Ala) c.1091C>G c.255C>G (n.255C>G) c.760C>G (p.Pro254Ala) c.1138C>G (p.Pro380Ala) | |
| 8 | g.102208267G= | CA1806674693 | RRM2B | c.922C= (p.Pro308=) n.309C= c.766C= (p.Pro256=) c.286C= (p.Pro96=) c.67C= (p.Pro23=) c.1091C= c.255C= (n.255C=) c.760C= (p.Pro254=) c.1138C= (p.Pro380=) | |
| 8 | g.102208267G>T | CA371586417 | RRM2B | c.922C>A (p.Pro308Thr) n.309C>A c.766C>A (p.Pro256Thr) c.286C>A (p.Pro96Thr) c.67C>A (p.Pro23Thr) c.1091C>A c.255C>A (n.255C>A) c.760C>A (p.Pro254Thr) c.1138C>A (p.Pro380Thr) | |
| 8 | g.102208268A= | CA1806674695 | RRM2B | c.921T= (p.Asn307=) n.308T= c.765T= (p.Asn255=) c.285T= (p.Asn95=) c.66T= (p.Asn22=) c.1090T= c.254T= (n.254T=) c.759T= (p.Asn253=) c.1137T= (p.Asn379=) | |
| 8 | g.102208268A>C | CA371586422 | RRM2B | c.921T>G (p.Asn307Lys) n.308T>G c.765T>G (p.Asn255Lys) c.285T>G (p.Asn95Lys) c.66T>G (p.Asn22Lys) c.1090T>G c.254T>G (n.254T>G) c.759T>G (p.Asn253Lys) c.1137T>G (p.Asn379Lys) | |
| 8 | g.102208268A>G | CA462124004 | RRM2B | c.921T>C (p.Asn307=) n.308T>C c.765T>C (p.Asn255=) c.285T>C (p.Asn95=) c.66T>C (p.Asn22=) c.1090T>C c.254T>C (n.254T>C) c.759T>C (p.Asn253=) c.1137T>C (p.Asn379=) | dbSNP gnomAD v4 |
| 8 | g.102208268A>T | CA371586421 | RRM2B | c.921T>A (p.Asn307Lys) n.308T>A c.765T>A (p.Asn255Lys) c.285T>A (p.Asn95Lys) c.66T>A (p.Asn22Lys) c.1090T>A c.254T>A (n.254T>A) c.759T>A (p.Asn253Lys) c.1137T>A (p.Asn379Lys) | |
| 8 | g.102208268_102208269delinsAT | CA1806674694 | RRM2B | c.920_921delinsAT (p.Asn307=) n.307_308delinsAT c.764_765delinsAT (p.Asn255=) c.284_285delinsAT (p.Asn95=) c.65_66delinsAT (p.Asn22=) c.1089_1090delinsAT c.253_254delinsAT (n.253_254delinsAT) c.758_759delinsAT (p.Asn253=) c.1136_1137delinsAT (p.Asn379=) | |
| 8 | g.102208269T>A | CA371586428 | RRM2B | c.920A>T (p.Asn307Ile) n.307A>T c.764A>T (p.Asn255Ile) c.284A>T (p.Asn95Ile) c.65A>T (p.Asn22Ile) c.1089A>T c.253A>T (n.253A>T) c.758A>T (p.Asn253Ile) c.1136A>T (p.Asn379Ile) | |
| 8 | g.102208269T>C | CA371586433 | RRM2B | c.920A>G (p.Asn307Ser) n.307A>G c.764A>G (p.Asn255Ser) c.284A>G (p.Asn95Ser) c.65A>G (p.Asn22Ser) c.1089A>G c.253A>G (n.253A>G) c.758A>G (p.Asn253Ser) c.1136A>G (p.Asn379Ser) | |
| 8 | g.102208269T>G | CA371586436 | RRM2B | c.920A>C (p.Asn307Thr) n.307A>C c.764A>C (p.Asn255Thr) c.284A>C (p.Asn95Thr) c.65A>C (p.Asn22Thr) c.1089A>C c.253A>C (n.253A>C) c.758A>C (p.Asn253Thr) c.1136A>C (p.Asn379Thr) | |
| 8 | g.102208272del | CA345616 | RRM2B | c.920del (p.Asn307IlefsTer11) n.307del c.764del (p.Asn255IlefsTer11) c.284del (p.Asn95IlefsTer11) c.65del (p.Asn22IlefsTer11) c.1089del c.253del (n.253del) c.758del (p.Asn253IlefsTer11) c.1136del (p.Asn379IlefsTer11) | ClinVar dbSNP |
| 8 | g.102208270T>A | CA371586440 | RRM2B | c.919A>T (p.Asn307Tyr) n.306A>T c.763A>T (p.Asn255Tyr) c.283A>T (p.Asn95Tyr) c.64A>T (p.Asn22Tyr) c.1088A>T c.252A>T (n.252A>T) c.757A>T (p.Asn253Tyr) c.1135A>T (p.Asn379Tyr) | |
| 8 | g.102208270T>C | CA371586443 | RRM2B | c.919A>G (p.Asn307Asp) n.306A>G c.763A>G (p.Asn255Asp) c.283A>G (p.Asn95Asp) c.64A>G (p.Asn22Asp) c.1088A>G c.252A>G (n.252A>G) c.757A>G (p.Asn253Asp) c.1135A>G (p.Asn379Asp) | |
| 8 | g.102208270T>G | CA371586447 | RRM2B | c.919A>C (p.Asn307His) n.306A>C c.763A>C (p.Asn255His) c.283A>C (p.Asn95His) c.64A>C (p.Asn22His) c.1088A>C c.252A>C (n.252A>C) c.757A>C (p.Asn253His) c.1135A>C (p.Asn379His) | |
| 8 | g.102208271T>A | CA371586453 | RRM2B | c.918A>T (p.Glu306Asp) n.305A>T c.762A>T (p.Glu254Asp) c.282A>T (p.Glu94Asp) c.63A>T (p.Glu21Asp) c.1087A>T c.251A>T (n.251A>T) c.756A>T (p.Glu252Asp) c.1134A>T (p.Glu378Asp) | |
| 8 | g.102208271T>C | CA462124013 | RRM2B | c.918A>G (p.Glu306=) n.305A>G c.762A>G (p.Glu254=) c.282A>G (p.Glu94=) c.63A>G (p.Glu21=) c.1087A>G c.251A>G (n.251A>G) c.756A>G (p.Glu252=) c.1134A>G (p.Glu378=) | |
| 8 | g.102208271T>G | CA371586456 | RRM2B | c.918A>C (p.Glu306Asp) n.305A>C c.762A>C (p.Glu254Asp) c.282A>C (p.Glu94Asp) c.63A>C (p.Glu21Asp) c.1087A>C c.251A>C (n.251A>C) c.756A>C (p.Glu252Asp) c.1134A>C (p.Glu378Asp) | |
| 8 | g.102208272T>A | CA371586463 | RRM2B | c.917A>T (p.Glu306Val) n.304A>T c.761A>T (p.Glu254Val) c.281A>T (p.Glu94Val) c.62A>T (p.Glu21Val) c.1086A>T c.250A>T (n.250A>T) c.755A>T (p.Glu252Val) c.1133A>T (p.Glu378Val) | |
| 8 | g.102208272T>C | CA371586466 | RRM2B | c.917A>G (p.Glu306Gly) n.304A>G c.761A>G (p.Glu254Gly) c.281A>G (p.Glu94Gly) c.62A>G (p.Glu21Gly) c.1086A>G c.250A>G (n.250A>G) c.755A>G (p.Glu252Gly) c.1133A>G (p.Glu378Gly) | |
| 8 | g.102208272T>G | CA371586469 | RRM2B | c.917A>C (p.Glu306Ala) n.304A>C c.761A>C (p.Glu254Ala) c.281A>C (p.Glu94Ala) c.62A>C (p.Glu21Ala) c.1086A>C c.250A>C (n.250A>C) c.755A>C (p.Glu252Ala) c.1133A>C (p.Glu378Ala) |