| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.30313926T>A | CA376434789 | MTPAP | c.1432A>T (p.Asn478Tyr) n.3187A>T | dbSNP gnomAD v4 |
| 10 | g.30313926T>C | CA113782 | MTPAP | c.1432A>G (p.Asn478Asp) n.3187A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.30313926T>G | CA376434790 | MTPAP | c.1432A>C (p.Asn478His) n.3187A>C | |
| 10 | g.30313926T= | CA1899314042 | MTPAP | c.1432A= (p.Asn478=) n.3187A= | |
| 10 | g.30313927C>A | CA376434791 | MTPAP | c.1431G>T (p.Gln477His) n.3186G>T | |
| 10 | g.30313927C>G | CA376434792 | MTPAP | c.1431G>C (p.Gln477His) n.3186G>C | |
| 10 | g.30313927C>T | CA468798922 | MTPAP | c.1431G>A (p.Gln477=) n.3186G>A | |
| 10 | g.30313928T>A | CA376434793 | MTPAP | c.1430A>T (p.Gln477Leu) n.3185A>T | |
| 10 | g.30313928T>C | CA205301046 | MTPAP | c.1430A>G (p.Gln477Arg) n.3185A>G | dbSNP |
| 10 | g.30313928T>G | CA5458943 | MTPAP | c.1430A>C (p.Gln477Pro) n.3185A>C | dbSNP ExAC gnomAD v2 |
| 10 | g.30313928T= | CA1899314043 | MTPAP | c.1430A= (p.Gln477=) n.3185A= | |
| 10 | g.30313929G>A | CA376434794 | MTPAP | c.1429C>T (p.Gln477Ter) n.3184C>T | |
| 10 | g.30313929G>C | CA205301061 | MTPAP | c.1429C>G (p.Gln477Glu) n.3184C>G | dbSNP gnomAD v4 |
| 10 | g.30313929G= | CA1899314044 | MTPAP | c.1429C= (p.Gln477=) n.3184C= | |
| 10 | g.30313929G>T | CA376434795 | MTPAP | c.1429C>A (p.Gln477Lys) n.3184C>A | |
| 10 | g.30313930A>C | CA376434796 | MTPAP | c.1428T>G (p.Ile476Met) n.3183T>G | |
| 10 | g.30313930A>G | CA468798936 | MTPAP | c.1428T>C (p.Ile476=) n.3183T>C | |
| 10 | g.30313930A>T | CA468798938 | MTPAP | c.1428T>A (p.Ile476=) n.3183T>A | |
| 10 | g.30313931A>C | CA376434798 | MTPAP | c.1427T>G (p.Ile476Ser) n.3182T>G | |
| 10 | g.30313931A>G | CA376434799 | MTPAP | c.1427T>C (p.Ile476Thr) n.3182T>C | |
| 10 | g.30313931A>T | CA376434797 | MTPAP | c.1427T>A (p.Ile476Asn) n.3182T>A | |
| 10 | g.30313932T>A | CA376434800 | MTPAP | c.1426A>T (p.Ile476Phe) n.3181A>T | |
| 10 | g.30313932T>C | CA5458944 | MTPAP | c.1426A>G (p.Ile476Val) n.3181A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.30313932T>G | CA376434801 | MTPAP | c.1426A>C (p.Ile476Leu) n.3181A>C | |
| 10 | g.30313932T= | CA1899314045 | MTPAP | c.1426A= (p.Ile476=) n.3181A= | |
| 10 | g.30313933G>A | CA468798949 | MTPAP | c.1425C>T (p.Tyr475=) n.3180C>T | dbSNP |
| 10 | g.30313933G>C | CA376434802 | MTPAP | c.1425C>G (p.Tyr475Ter) n.3180C>G | |
| 10 | g.30313933G= | CA1899314046 | MTPAP | c.1425C= (p.Tyr475=) n.3180C= | |
| 10 | g.30313933G>T | CA376434803 | MTPAP | c.1425C>A (p.Tyr475Ter) n.3180C>A | |
| 10 | g.30313934T>A | CA376434804 | MTPAP | c.1424A>T (p.Tyr475Phe) n.3179A>T | |
| 10 | g.30313934T>C | CA376434806 | MTPAP | c.1424A>G (p.Tyr475Cys) n.3179A>G | gnomAD v4 |
| 10 | g.30313934T>G | CA376434805 | MTPAP | c.1424A>C (p.Tyr475Ser) n.3179A>C | |
| 10 | g.30313935A= | CA1899314047 | MTPAP | c.1423T= (p.Tyr475=) n.3178T= | |
| 10 | g.30313935A>C | CA376434807 | MTPAP | c.1423T>G (p.Tyr475Asp) n.3178T>G | |
| 10 | g.30313935A>G | CA5458945 | MTPAP | c.1423T>C (p.Tyr475His) n.3178T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.30313935A>T | CA376434808 | MTPAP | c.1423T>A (p.Tyr475Asn) n.3178T>A | |
| 10 | g.30313936C>A | CA468798967 | MTPAP | c.1422G>T (p.Leu474=) n.3177G>T | |
| 10 | g.30313936C= | CA1899314048 | MTPAP | c.1422G= (p.Leu474=) n.3177G= | |
| 10 | g.30313936C>G | CA5458946 | MTPAP | c.1422G>C (p.Leu474=) n.3177G>C | dbSNP ExAC gnomAD v2 |
| 10 | g.30313936C>T | CA468798971 | MTPAP | c.1422G>A (p.Leu474=) n.3177G>A | |
| 10 | g.30313937A>C | CA376434809 | MTPAP | c.1421T>G (p.Leu474Arg) n.3176T>G | |
| 10 | g.30313937A>G | CA376434810 | MTPAP | c.1421T>C (p.Leu474Pro) n.3176T>C | |
| 10 | g.30313937A>T | CA376434811 | MTPAP | c.1421T>A (p.Leu474Gln) n.3176T>A | |
| 10 | g.30313937_30313940delinsAGAG | CA1899314049 | MTPAP | c.1418_1421delinsCTCT (p.Pro473=) n.3173_3176delinsCTCT | |
| 10 | g.30313938G>A | CA5458947 | MTPAP | c.1420C>T (p.Leu474=) n.3175C>T | dbSNP ExAC |
| 10 | g.30313938G>C | CA376434812 | MTPAP | c.1420C>G (p.Leu474Val) n.3175C>G | COSMIC COSMIC |
| 10 | g.30313938G= | CA1899314050 | MTPAP | c.1420C= (p.Leu474=) n.3175C= | |
| 10 | g.30313938G>T | CA376434813 | MTPAP | c.1420C>A (p.Leu474Met) n.3175C>A | |
| 10 | g.30313941_30313943del | CA658783074 | MTPAP | c.1418_1420del (p.Pro473del) n.3173_3175del | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.30313939A= | CA1899314051 | MTPAP | c.1419T= (p.Pro473=) n.3174T= |