| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37064854C>A | CA444096670 | CPLANE1,NIPBL | c.8377C>A (p.Arg2793=) c.*321C>A (n.*321C>A) n.2300C>A c.277C>A (p.Arg93=) c.*831C>A (n.*831C>A) c.7633C>A (p.Arg2545=) c.8230C>A (p.Arg2744=) c.8179C>A (p.Arg2727=) c.7996C>A (p.Arg2666=) c.7717C>A (p.Arg2573=) c.6760C>A (p.Arg2254=) c.6751C>A (p.Arg2251=) n.11828G>T | |
| 5 | g.37064854C= | CA1539590751 | CPLANE1,NIPBL | c.8377C= (p.Arg2793=) c.*321C= (n.*321C=) n.2300C= c.277C= (p.Arg93=) c.*831C= (n.*831C=) c.7633C= (p.Arg2545=) c.8230C= (p.Arg2744=) c.8179C= (p.Arg2727=) c.7996C= (p.Arg2666=) c.7717C= (p.Arg2573=) c.6760C= (p.Arg2254=) c.6751C= (p.Arg2251=) n.11828G= | |
| 5 | g.37064854C>G | CA359523700 | CPLANE1,NIPBL | c.8377C>G (p.Arg2793Gly) c.*321C>G (n.*321C>G) n.2300C>G c.277C>G (p.Arg93Gly) c.*831C>G (n.*831C>G) c.7633C>G (p.Arg2545Gly) c.8230C>G (p.Arg2744Gly) c.8179C>G (p.Arg2727Gly) c.7996C>G (p.Arg2666Gly) c.7717C>G (p.Arg2573Gly) c.6760C>G (p.Arg2254Gly) c.6751C>G (p.Arg2251Gly) n.11828G>C | |
| 5 | g.37064854C>T | CA224045 | CPLANE1,NIPBL | c.8377C>T (p.Arg2793Ter) c.*321C>T (n.*321C>T) n.2300C>T c.277C>T (p.Arg93Ter) c.*831C>T (n.*831C>T) c.7633C>T (p.Arg2545Ter) c.8230C>T (p.Arg2744Ter) c.8179C>T (p.Arg2727Ter) c.7996C>T (p.Arg2666Ter) c.7717C>T (p.Arg2573Ter) c.6760C>T (p.Arg2254Ter) c.6751C>T (p.Arg2251Ter) n.11828G>A | ClinVar dbSNP |
| 5 | g.37064855G>A | CA359523714 | CPLANE1,NIPBL | c.8378G>A (p.Arg2793Gln) c.*322G>A (n.*322G>A) n.2301G>A c.278G>A (p.Arg93Gln) c.*832G>A (n.*832G>A) c.7634G>A (p.Arg2545Gln) c.8231G>A (p.Arg2744Gln) c.8180G>A (p.Arg2727Gln) c.7997G>A (p.Arg2666Gln) c.7718G>A (p.Arg2573Gln) c.6761G>A (p.Arg2254Gln) c.6752G>A (p.Arg2251Gln) n.11827C>T | dbSNP gnomAD v4 COSMIC |
| 5 | g.37064855G>C | CA359523719 | CPLANE1,NIPBL | c.8378G>C (p.Arg2793Pro) c.*322G>C (n.*322G>C) n.2301G>C c.278G>C (p.Arg93Pro) c.*832G>C (n.*832G>C) c.7634G>C (p.Arg2545Pro) c.8231G>C (p.Arg2744Pro) c.8180G>C (p.Arg2727Pro) c.7997G>C (p.Arg2666Pro) c.7718G>C (p.Arg2573Pro) c.6761G>C (p.Arg2254Pro) c.6752G>C (p.Arg2251Pro) n.11827C>G | |
| 5 | g.37064855G= | CA1539590772 | CPLANE1,NIPBL | c.8378G= (p.Arg2793=) c.*322G= (n.*322G=) n.2301G= c.278G= (p.Arg93=) c.*832G= (n.*832G=) c.7634G= (p.Arg2545=) c.8231G= (p.Arg2744=) c.8180G= (p.Arg2727=) c.7997G= (p.Arg2666=) c.7718G= (p.Arg2573=) c.6761G= (p.Arg2254=) c.6752G= (p.Arg2251=) n.11827C= | |
| 5 | g.37064855G>T | CA359523723 | CPLANE1,NIPBL | c.8378G>T (p.Arg2793Leu) c.*322G>T (n.*322G>T) n.2301G>T c.278G>T (p.Arg93Leu) c.*832G>T (n.*832G>T) c.7634G>T (p.Arg2545Leu) c.8231G>T (p.Arg2744Leu) c.8180G>T (p.Arg2727Leu) c.7997G>T (p.Arg2666Leu) c.7718G>T (p.Arg2573Leu) c.6761G>T (p.Arg2254Leu) c.6752G>T (p.Arg2251Leu) n.11827C>A | |
| 5 | g.37064856A>C | CA444096672 | CPLANE1,NIPBL | c.8379A>C (p.Arg2793=) c.*323A>C (n.*323A>C) n.2302A>C c.279A>C (p.Arg93=) c.*833A>C (n.*833A>C) c.7635A>C (p.Arg2545=) c.8232A>C (p.Arg2744=) c.8181A>C (p.Arg2727=) c.7998A>C (p.Arg2666=) c.7719A>C (p.Arg2573=) c.6762A>C (p.Arg2254=) c.6753A>C (p.Arg2251=) n.11826T>G | |
| 5 | g.37064856A>G | CA444096674 | CPLANE1,NIPBL | c.8379A>G (p.Arg2793=) c.*323A>G (n.*323A>G) n.2302A>G c.279A>G (p.Arg93=) c.*833A>G (n.*833A>G) c.7635A>G (p.Arg2545=) c.8232A>G (p.Arg2744=) c.8181A>G (p.Arg2727=) c.7998A>G (p.Arg2666=) c.7719A>G (p.Arg2573=) c.6762A>G (p.Arg2254=) c.6753A>G (p.Arg2251=) n.11826T>C | |
| 5 | g.37064856A>T | CA444096673 | CPLANE1,NIPBL | c.8379A>T (p.Arg2793=) c.*323A>T (n.*323A>T) n.2302A>T c.279A>T (p.Arg93=) c.*833A>T (n.*833A>T) c.7635A>T (p.Arg2545=) c.8232A>T (p.Arg2744=) c.8181A>T (p.Arg2727=) c.7998A>T (p.Arg2666=) c.7719A>T (p.Arg2573=) c.6762A>T (p.Arg2254=) c.6753A>T (p.Arg2251=) n.11826T>A | |
| 5 | g.37064857T>A | CA359523746 | CPLANE1,NIPBL | c.8380T>A (p.Ser2794Thr) c.*324T>A (n.*324T>A) n.2303T>A c.280T>A (p.Ser94Thr) c.*834T>A (n.*834T>A) c.7636T>A (p.Ser2546Thr) c.8233T>A (p.Ser2745Thr) c.8182T>A (p.Ser2728Thr) c.7999T>A (p.Ser2667Thr) c.7720T>A (p.Ser2574Thr) c.6763T>A (p.Ser2255Thr) c.6754T>A (p.Ser2252Thr) n.11825A>T | gnomAD v4 |
| 5 | g.37064857T>C | CA359523748 | CPLANE1,NIPBL | c.8380T>C (p.Ser2794Pro) c.*324T>C (n.*324T>C) n.2303T>C c.280T>C (p.Ser94Pro) c.*834T>C (n.*834T>C) c.7636T>C (p.Ser2546Pro) c.8233T>C (p.Ser2745Pro) c.8182T>C (p.Ser2728Pro) c.7999T>C (p.Ser2667Pro) c.7720T>C (p.Ser2574Pro) c.6763T>C (p.Ser2255Pro) c.6754T>C (p.Ser2252Pro) n.11825A>G | |
| 5 | g.37064857T>G | CA359523749 | CPLANE1,NIPBL | c.8380T>G (p.Ser2794Ala) c.*324T>G (n.*324T>G) n.2303T>G c.280T>G (p.Ser94Ala) c.*834T>G (n.*834T>G) c.7636T>G (p.Ser2546Ala) c.8233T>G (p.Ser2745Ala) c.8182T>G (p.Ser2728Ala) c.7999T>G (p.Ser2667Ala) c.7720T>G (p.Ser2574Ala) c.6763T>G (p.Ser2255Ala) c.6754T>G (p.Ser2252Ala) n.11825A>C | |
| 5 | g.37064858C>A | CA359523750 | CPLANE1,NIPBL | c.8381C>A (p.Ser2794Tyr) c.*325C>A (n.*325C>A) n.2304C>A c.281C>A (p.Ser94Tyr) c.*835C>A (n.*835C>A) c.7637C>A (p.Ser2546Tyr) c.8234C>A (p.Ser2745Tyr) c.8183C>A (p.Ser2728Tyr) c.8000C>A (p.Ser2667Tyr) c.7721C>A (p.Ser2574Tyr) c.6764C>A (p.Ser2255Tyr) c.6755C>A (p.Ser2252Tyr) n.11824G>T | |
| 5 | g.37064858C>G | CA359523751 | CPLANE1,NIPBL | c.8381C>G (p.Ser2794Cys) c.*325C>G (n.*325C>G) n.2304C>G c.281C>G (p.Ser94Cys) c.*835C>G (n.*835C>G) c.7637C>G (p.Ser2546Cys) c.8234C>G (p.Ser2745Cys) c.8183C>G (p.Ser2728Cys) c.8000C>G (p.Ser2667Cys) c.7721C>G (p.Ser2574Cys) c.6764C>G (p.Ser2255Cys) c.6755C>G (p.Ser2252Cys) n.11824G>C | |
| 5 | g.37064858C>T | CA359523752 | CPLANE1,NIPBL | c.8381C>T (p.Ser2794Phe) c.*325C>T (n.*325C>T) n.2304C>T c.281C>T (p.Ser94Phe) c.*835C>T (n.*835C>T) c.7637C>T (p.Ser2546Phe) c.8234C>T (p.Ser2745Phe) c.8183C>T (p.Ser2728Phe) c.8000C>T (p.Ser2667Phe) c.7721C>T (p.Ser2574Phe) c.6764C>T (p.Ser2255Phe) c.6755C>T (p.Ser2252Phe) n.11824G>A | |
| 5 | g.37064859C>A | CA444096679 | CPLANE1,NIPBL | c.8382C>A (p.Ser2794=) c.*326C>A (n.*326C>A) n.2305C>A c.282C>A (p.Ser94=) c.*836C>A (n.*836C>A) c.7638C>A (p.Ser2546=) c.8235C>A (p.Ser2745=) c.8184C>A (p.Ser2728=) c.8001C>A (p.Ser2667=) c.7722C>A (p.Ser2574=) c.6765C>A (p.Ser2255=) c.6756C>A (p.Ser2252=) n.11823G>T | |
| 5 | g.37064859C= | CA1539590781 | CPLANE1,NIPBL | c.8382C= (p.Ser2794=) c.*326C= (n.*326C=) n.2305C= c.282C= (p.Ser94=) c.*836C= (n.*836C=) c.7638C= (p.Ser2546=) c.8235C= (p.Ser2745=) c.8184C= (p.Ser2728=) c.8001C= (p.Ser2667=) c.7722C= (p.Ser2574=) c.6765C= (p.Ser2255=) c.6756C= (p.Ser2252=) n.11823G= | |
| 5 | g.37064859C>G | CA117059074 | CPLANE1,NIPBL | c.8382C>G (p.Ser2794=) c.*326C>G (n.*326C>G) n.2305C>G c.282C>G (p.Ser94=) c.*836C>G (n.*836C>G) c.7638C>G (p.Ser2546=) c.8235C>G (p.Ser2745=) c.8184C>G (p.Ser2728=) c.8001C>G (p.Ser2667=) c.7722C>G (p.Ser2574=) c.6765C>G (p.Ser2255=) c.6756C>G (p.Ser2252=) n.11823G>C | dbSNP |
| 5 | g.37064859C>T | CA3237361 | CPLANE1,NIPBL | c.8382C>T (p.Ser2794=) c.*326C>T (n.*326C>T) n.2305C>T c.282C>T (p.Ser94=) c.*836C>T (n.*836C>T) c.7638C>T (p.Ser2546=) c.8235C>T (p.Ser2745=) c.8184C>T (p.Ser2728=) c.8001C>T (p.Ser2667=) c.7722C>T (p.Ser2574=) c.6765C>T (p.Ser2255=) c.6756C>T (p.Ser2252=) n.11823G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37064860C>A | CA359523757 | CPLANE1,NIPBL | c.8383C>A (p.Leu2795Met) c.*327C>A (n.*327C>A) n.2306C>A c.283C>A (p.Leu95Met) c.*837C>A (n.*837C>A) c.7639C>A (p.Leu2547Met) c.8236C>A (p.Leu2746Met) c.8185C>A (p.Leu2729Met) c.8002C>A (p.Leu2668Met) c.7723C>A (p.Leu2575Met) c.6766C>A (p.Leu2256Met) c.6757C>A (p.Leu2253Met) n.11822G>T | dbSNP |
| 5 | g.37064860C= | CA1539590792 | CPLANE1,NIPBL | c.8383C= (p.Leu2795=) c.*327C= (n.*327C=) n.2306C= c.283C= (p.Leu95=) c.*837C= (n.*837C=) c.7639C= (p.Leu2547=) c.8236C= (p.Leu2746=) c.8185C= (p.Leu2729=) c.8002C= (p.Leu2668=) c.7723C= (p.Leu2575=) c.6766C= (p.Leu2256=) c.6757C= (p.Leu2253=) n.11822G= | |
| 5 | g.37064860C>G | CA359523756 | CPLANE1,NIPBL | c.8383C>G (p.Leu2795Val) c.*327C>G (n.*327C>G) n.2306C>G c.283C>G (p.Leu95Val) c.*837C>G (n.*837C>G) c.7639C>G (p.Leu2547Val) c.8236C>G (p.Leu2746Val) c.8185C>G (p.Leu2729Val) c.8002C>G (p.Leu2668Val) c.7723C>G (p.Leu2575Val) c.6766C>G (p.Leu2256Val) c.6757C>G (p.Leu2253Val) n.11822G>C | |
| 5 | g.37064860C>T | CA444096681 | CPLANE1,NIPBL | c.8383C>T (p.Leu2795=) c.*327C>T (n.*327C>T) n.2306C>T c.283C>T (p.Leu95=) c.*837C>T (n.*837C>T) c.7639C>T (p.Leu2547=) c.8236C>T (p.Leu2746=) c.8185C>T (p.Leu2729=) c.8002C>T (p.Leu2668=) c.7723C>T (p.Leu2575=) c.6766C>T (p.Leu2256=) c.6757C>T (p.Leu2253=) n.11822G>A | |
| 5 | g.37064861T>A | CA359523758 | CPLANE1,NIPBL | c.8384T>A (p.Leu2795Gln) c.*328T>A (n.*328T>A) n.2307T>A c.284T>A (p.Leu95Gln) c.*838T>A (n.*838T>A) c.7640T>A (p.Leu2547Gln) c.8237T>A (p.Leu2746Gln) c.8186T>A (p.Leu2729Gln) c.8003T>A (p.Leu2668Gln) c.7724T>A (p.Leu2575Gln) c.6767T>A (p.Leu2256Gln) c.6758T>A (p.Leu2253Gln) n.11821A>T | |
| 5 | g.37064861T>C | CA359523759 | CPLANE1,NIPBL | c.8384T>C (p.Leu2795Pro) c.*328T>C (n.*328T>C) n.2307T>C c.284T>C (p.Leu95Pro) c.*838T>C (n.*838T>C) c.7640T>C (p.Leu2547Pro) c.8237T>C (p.Leu2746Pro) c.8186T>C (p.Leu2729Pro) c.8003T>C (p.Leu2668Pro) c.7724T>C (p.Leu2575Pro) c.6767T>C (p.Leu2256Pro) c.6758T>C (p.Leu2253Pro) n.11821A>G | ClinVar dbSNP |
| 5 | g.37064861T>G | CA359523760 | CPLANE1,NIPBL | c.8384T>G (p.Leu2795Arg) c.*328T>G (n.*328T>G) n.2307T>G c.284T>G (p.Leu95Arg) c.*838T>G (n.*838T>G) c.7640T>G (p.Leu2547Arg) c.8237T>G (p.Leu2746Arg) c.8186T>G (p.Leu2729Arg) c.8003T>G (p.Leu2668Arg) c.7724T>G (p.Leu2575Arg) c.6767T>G (p.Leu2256Arg) c.6758T>G (p.Leu2253Arg) n.11821A>C | |
| 5 | g.37064861dup | CA658796522 | CPLANE1,NIPBL | c.8384dup (p.Tyr2796ValfsTer24) c.*328dup (n.*328dup) n.2307dup c.284dup (p.Tyr96ValfsTer24) c.*838dup (n.*838dup) c.7640dup (p.Tyr2548ValfsTer24) c.8237dup (p.Tyr2747ValfsTer24) c.8186dup (p.Tyr2730ValfsTer24) c.8003dup (p.Tyr2669ValfsTer24) c.7724dup (p.Tyr2576ValfsTer24) c.6767dup (p.Tyr2257ValfsTer24) c.6758dup (p.Tyr2254ValfsTer24) n.11821dup | ClinVar dbSNP |
| 5 | g.37064862G>A | CA444096683 | CPLANE1,NIPBL | c.8385G>A (p.Leu2795=) c.*329G>A (n.*329G>A) n.2308G>A c.285G>A (p.Leu95=) c.*839G>A (n.*839G>A) c.7641G>A (p.Leu2547=) c.8238G>A (p.Leu2746=) c.8187G>A (p.Leu2729=) c.8004G>A (p.Leu2668=) c.7725G>A (p.Leu2575=) c.6768G>A (p.Leu2256=) c.6759G>A (p.Leu2253=) n.11820C>T | |
| 5 | g.37064862G>C | CA3237362 | CPLANE1,NIPBL | c.8385G>C (p.Leu2795=) c.*329G>C (n.*329G>C) n.2308G>C c.285G>C (p.Leu95=) c.*839G>C (n.*839G>C) c.7641G>C (p.Leu2547=) c.8238G>C (p.Leu2746=) c.8187G>C (p.Leu2729=) c.8004G>C (p.Leu2668=) c.7725G>C (p.Leu2575=) c.6768G>C (p.Leu2256=) c.6759G>C (p.Leu2253=) n.11820C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37064862G= | CA1539590802 | CPLANE1,NIPBL | c.8385G= (p.Leu2795=) c.*329G= (n.*329G=) n.2308G= c.285G= (p.Leu95=) c.*839G= (n.*839G=) c.7641G= (p.Leu2547=) c.8238G= (p.Leu2746=) c.8187G= (p.Leu2729=) c.8004G= (p.Leu2668=) c.7725G= (p.Leu2575=) c.6768G= (p.Leu2256=) c.6759G= (p.Leu2253=) n.11820C= | |
| 5 | g.37064862G>T | CA444096685 | CPLANE1,NIPBL | c.8385G>T (p.Leu2795=) c.*329G>T (n.*329G>T) n.2308G>T c.285G>T (p.Leu95=) c.*839G>T (n.*839G>T) c.7641G>T (p.Leu2547=) c.8238G>T (p.Leu2746=) c.8187G>T (p.Leu2729=) c.8004G>T (p.Leu2668=) c.7725G>T (p.Leu2575=) c.6768G>T (p.Leu2256=) c.6759G>T (p.Leu2253=) n.11820C>A | |
| 5 | g.37064863T>A | CA359523783 | CPLANE1,NIPBL | c.8386T>A (p.Tyr2796Asn) c.*330T>A (n.*330T>A) n.2309T>A c.286T>A (p.Tyr96Asn) c.*840T>A (n.*840T>A) c.7642T>A (p.Tyr2548Asn) c.8239T>A (p.Tyr2747Asn) c.8188T>A (p.Tyr2730Asn) c.8005T>A (p.Tyr2669Asn) c.7726T>A (p.Tyr2576Asn) c.6769T>A (p.Tyr2257Asn) c.6760T>A (p.Tyr2254Asn) n.11819A>T | |
| 5 | g.37064863T>C | CA359523790 | CPLANE1,NIPBL | c.8386T>C (p.Tyr2796His) c.*330T>C (n.*330T>C) n.2309T>C c.286T>C (p.Tyr96His) c.*840T>C (n.*840T>C) c.7642T>C (p.Tyr2548His) c.8239T>C (p.Tyr2747His) c.8188T>C (p.Tyr2730His) c.8005T>C (p.Tyr2669His) c.7726T>C (p.Tyr2576His) c.6769T>C (p.Tyr2257His) c.6760T>C (p.Tyr2254His) n.11819A>G | |
| 5 | g.37064863T>G | CA359523793 | CPLANE1,NIPBL | c.8386T>G (p.Tyr2796Asp) c.*330T>G (n.*330T>G) n.2309T>G c.286T>G (p.Tyr96Asp) c.*840T>G (n.*840T>G) c.7642T>G (p.Tyr2548Asp) c.8239T>G (p.Tyr2747Asp) c.8188T>G (p.Tyr2730Asp) c.8005T>G (p.Tyr2669Asp) c.7726T>G (p.Tyr2576Asp) c.6769T>G (p.Tyr2257Asp) c.6760T>G (p.Tyr2254Asp) n.11819A>C | |
| 5 | g.37064864A>C | CA359523797 | CPLANE1,NIPBL | c.8387A>C (p.Tyr2796Ser) c.*331A>C (n.*331A>C) n.2310A>C c.287A>C (p.Tyr96Ser) c.*841A>C (n.*841A>C) c.7643A>C (p.Tyr2548Ser) c.8240A>C (p.Tyr2747Ser) c.8189A>C (p.Tyr2730Ser) c.8006A>C (p.Tyr2669Ser) c.7727A>C (p.Tyr2576Ser) c.6770A>C (p.Tyr2257Ser) c.6761A>C (p.Tyr2254Ser) n.11818T>G | |
| 5 | g.37064864A>G | CA359523798 | CPLANE1,NIPBL | c.8387A>G (p.Tyr2796Cys) c.*331A>G (n.*331A>G) n.2310A>G c.287A>G (p.Tyr96Cys) c.*841A>G (n.*841A>G) c.7643A>G (p.Tyr2548Cys) c.8240A>G (p.Tyr2747Cys) c.8189A>G (p.Tyr2730Cys) c.8006A>G (p.Tyr2669Cys) c.7727A>G (p.Tyr2576Cys) c.6770A>G (p.Tyr2257Cys) c.6761A>G (p.Tyr2254Cys) n.11818T>C | |
| 5 | g.37064864A>T | CA359523802 | CPLANE1,NIPBL | c.8387A>T (p.Tyr2796Phe) c.*331A>T (n.*331A>T) n.2310A>T c.287A>T (p.Tyr96Phe) c.*841A>T (n.*841A>T) c.7643A>T (p.Tyr2548Phe) c.8240A>T (p.Tyr2747Phe) c.8189A>T (p.Tyr2730Phe) c.8006A>T (p.Tyr2669Phe) c.7727A>T (p.Tyr2576Phe) c.6770A>T (p.Tyr2257Phe) c.6761A>T (p.Tyr2254Phe) n.11818T>A | |
| 5 | g.37064865T>A | CA359523808 | CPLANE1,NIPBL | c.8388T>A (p.Tyr2796Ter) c.*332T>A (n.*332T>A) n.2311T>A c.288T>A (p.Tyr96Ter) c.*842T>A (n.*842T>A) c.7644T>A (p.Tyr2548Ter) c.8241T>A (p.Tyr2747Ter) c.8190T>A (p.Tyr2730Ter) c.8007T>A (p.Tyr2669Ter) c.7728T>A (p.Tyr2576Ter) c.6771T>A (p.Tyr2257Ter) c.6762T>A (p.Tyr2254Ter) n.11817A>T | |
| 5 | g.37064865T>C | CA444096687 | CPLANE1,NIPBL | c.8388T>C (p.Tyr2796=) c.*332T>C (n.*332T>C) n.2311T>C c.288T>C (p.Tyr96=) c.*842T>C (n.*842T>C) c.7644T>C (p.Tyr2548=) c.8241T>C (p.Tyr2747=) c.8190T>C (p.Tyr2730=) c.8007T>C (p.Tyr2669=) c.7728T>C (p.Tyr2576=) c.6771T>C (p.Tyr2257=) c.6762T>C (p.Tyr2254=) n.11817A>G | |
| 5 | g.37064865T>G | CA359523811 | CPLANE1,NIPBL | c.8388T>G (p.Tyr2796Ter) c.*332T>G (n.*332T>G) n.2311T>G c.288T>G (p.Tyr96Ter) c.*842T>G (n.*842T>G) c.7644T>G (p.Tyr2548Ter) c.8241T>G (p.Tyr2747Ter) c.8190T>G (p.Tyr2730Ter) c.8007T>G (p.Tyr2669Ter) c.7728T>G (p.Tyr2576Ter) c.6771T>G (p.Tyr2257Ter) c.6762T>G (p.Tyr2254Ter) n.11817A>C | |
| 5 | g.37064866G>A | CA359523825 | CPLANE1,NIPBL | c.8389G>A (p.Ala2797Thr) c.*333G>A (n.*333G>A) n.2312G>A c.289G>A (p.Ala97Thr) c.*843G>A (n.*843G>A) c.7645G>A (p.Ala2549Thr) c.8242G>A (p.Ala2748Thr) c.8191G>A (p.Ala2731Thr) c.8008G>A (p.Ala2670Thr) c.7729G>A (p.Ala2577Thr) c.6772G>A (p.Ala2258Thr) c.6763G>A (p.Ala2255Thr) n.11816C>T | |
| 5 | g.37064866G>C | CA359523819 | CPLANE1,NIPBL | c.8389G>C (p.Ala2797Pro) c.*333G>C (n.*333G>C) n.2312G>C c.289G>C (p.Ala97Pro) c.*843G>C (n.*843G>C) c.7645G>C (p.Ala2549Pro) c.8242G>C (p.Ala2748Pro) c.8191G>C (p.Ala2731Pro) c.8008G>C (p.Ala2670Pro) c.7729G>C (p.Ala2577Pro) c.6772G>C (p.Ala2258Pro) c.6763G>C (p.Ala2255Pro) n.11816C>G | |
| 5 | g.37064866G>T | CA359523816 | CPLANE1,NIPBL | c.8389G>T (p.Ala2797Ser) c.*333G>T (n.*333G>T) n.2312G>T c.289G>T (p.Ala97Ser) c.*843G>T (n.*843G>T) c.7645G>T (p.Ala2549Ser) c.8242G>T (p.Ala2748Ser) c.8191G>T (p.Ala2731Ser) c.8008G>T (p.Ala2670Ser) c.7729G>T (p.Ala2577Ser) c.6772G>T (p.Ala2258Ser) c.6763G>T (p.Ala2255Ser) n.11816C>A | |
| 5 | g.37064867C>A | CA359523828 | CPLANE1,NIPBL | c.8390C>A (p.Ala2797Asp) c.*334C>A (n.*334C>A) n.2313C>A c.290C>A (p.Ala97Asp) c.*844C>A (n.*844C>A) c.7646C>A (p.Ala2549Asp) c.8243C>A (p.Ala2748Asp) c.8192C>A (p.Ala2731Asp) c.8009C>A (p.Ala2670Asp) c.7730C>A (p.Ala2577Asp) c.6773C>A (p.Ala2258Asp) c.6764C>A (p.Ala2255Asp) n.11815G>T | |
| 5 | g.37064867C= | CA1539590808 | CPLANE1,NIPBL | c.8390C= (p.Ala2797=) c.*334C= (n.*334C=) n.2313C= c.290C= (p.Ala97=) c.*844C= (n.*844C=) c.7646C= (p.Ala2549=) c.8243C= (p.Ala2748=) c.8192C= (p.Ala2731=) c.8009C= (p.Ala2670=) c.7730C= (p.Ala2577=) c.6773C= (p.Ala2258=) c.6764C= (p.Ala2255=) n.11815G= | |
| 5 | g.37064867C>G | CA359523832 | CPLANE1,NIPBL | c.8390C>G (p.Ala2797Gly) c.*334C>G (n.*334C>G) n.2313C>G c.290C>G (p.Ala97Gly) c.*844C>G (n.*844C>G) c.7646C>G (p.Ala2549Gly) c.8243C>G (p.Ala2748Gly) c.8192C>G (p.Ala2731Gly) c.8009C>G (p.Ala2670Gly) c.7730C>G (p.Ala2577Gly) c.6773C>G (p.Ala2258Gly) c.6764C>G (p.Ala2255Gly) n.11815G>C | |
| 5 | g.37064867C>T | CA117059091 | CPLANE1,NIPBL | c.8390C>T (p.Ala2797Val) c.*334C>T (n.*334C>T) n.2313C>T c.290C>T (p.Ala97Val) c.*844C>T (n.*844C>T) c.7646C>T (p.Ala2549Val) c.8243C>T (p.Ala2748Val) c.8192C>T (p.Ala2731Val) c.8009C>T (p.Ala2670Val) c.7730C>T (p.Ala2577Val) c.6773C>T (p.Ala2258Val) c.6764C>T (p.Ala2255Val) n.11815G>A | dbSNP COSMIC |
| 5 | g.37064867_37064873del | CA2573139633 | CPLANE1,NIPBL | c.8390_8396del (p.Ala2797GlyfsTer26) c.*334_*340del (n.*334_*340del) n.2313_2319del c.290_296del (p.Ala97GlyfsTer26) c.*844_*850del (n.*844_*850del) c.7646_7652del (p.Ala2549GlyfsTer26) c.8243_8249del (p.Ala2748GlyfsTer26) c.8192_8198del (p.Ala2731GlyfsTer26) c.8009_8015del (p.Ala2670GlyfsTer26) c.7730_7736del (p.Ala2577GlyfsTer26) c.6773_6779del (p.Ala2258GlyfsTer26) c.6764_6770del (p.Ala2255GlyfsTer26) n.11809_11815del | ClinVar dbSNP |