Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.39872244C>A | CA2581306185 | ZPBP2 | c.407-26C>A (n.407-26C>A) c.341-26C>A (n.341-26C>A) c.53-26C>A (n.53-26C>A) c.406+619C>A (n.406+619C>A) n.598-26C>A | gnomAD v4 |
17 | g.39872244C= | CA2259290816 | ZPBP2 | c.407-26C= (n.407-26C=) c.341-26C= (n.341-26C=) c.53-26C= (n.53-26C=) c.406+619C= (n.406+619C=) n.598-26C= | |
17 | g.39872244C>G | CA8535945 | ZPBP2 | c.407-26C>G (n.407-26C>G) c.341-26C>G (n.341-26C>G) c.53-26C>G (n.53-26C>G) c.406+619C>G (n.406+619C>G) n.598-26C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872244C>T | CA8535944 | ZPBP2 | c.407-26C>T (n.407-26C>T) c.341-26C>T (n.341-26C>T) c.53-26C>T (n.53-26C>T) c.406+619C>T (n.406+619C>T) n.598-26C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872245del | CA2637649489 | ZPBP2 | c.407-25del (n.407-25del) c.341-25del (n.341-25del) c.53-25del (n.53-25del) c.406+620del (n.406+620del) n.598-25del | gnomAD v4 |
17 | g.39872246C>A | CA2637649492 | ZPBP2 | c.407-24C>A (n.407-24C>A) c.341-24C>A (n.341-24C>A) c.53-24C>A (n.53-24C>A) c.406+621C>A (n.406+621C>A) n.598-24C>A | gnomAD v4 |
17 | g.39872246C= | CA2259290817 | ZPBP2 | c.407-24C= (n.407-24C=) c.341-24C= (n.341-24C=) c.53-24C= (n.53-24C=) c.406+621C= (n.406+621C=) n.598-24C= | |
17 | g.39872246C>G | CA8535946 | ZPBP2 | c.407-24C>G (n.407-24C>G) c.341-24C>G (n.341-24C>G) c.53-24C>G (n.53-24C>G) c.406+621C>G (n.406+621C>G) n.598-24C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872246C>T | CA8535947 | ZPBP2 | c.407-24C>T (n.407-24C>T) c.341-24C>T (n.341-24C>T) c.53-24C>T (n.53-24C>T) c.406+621C>T (n.406+621C>T) n.598-24C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872247T>A | CA290455625 | ZPBP2 | c.407-23T>A (n.407-23T>A) c.341-23T>A (n.341-23T>A) c.53-23T>A (n.53-23T>A) c.406+622T>A (n.406+622T>A) n.598-23T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872247T>C | CA2637649497 | ZPBP2 | c.407-23T>C (n.407-23T>C) c.341-23T>C (n.341-23T>C) c.53-23T>C (n.53-23T>C) c.406+622T>C (n.406+622T>C) n.598-23T>C | gnomAD v4 |
17 | g.39872247T= | CA2259290818 | ZPBP2 | c.407-23T= (n.407-23T=) c.341-23T= (n.341-23T=) c.53-23T= (n.53-23T=) c.406+622T= (n.406+622T=) n.598-23T= | |
17 | g.39872248del | CA2809447754 | ZPBP2 | c.407-22del (n.407-22del) c.341-22del (n.341-22del) c.53-22del (n.53-22del) c.406+623del (n.406+623del) n.598-22del | |
17 | g.39872248C>A | CA2637649499 | ZPBP2 | c.407-22C>A (n.407-22C>A) c.341-22C>A (n.341-22C>A) c.53-22C>A (n.53-22C>A) c.406+623C>A (n.406+623C>A) n.598-22C>A | gnomAD v4 |
17 | g.39872248C= | CA2259290819 | ZPBP2 | c.407-22C= (n.407-22C=) c.341-22C= (n.341-22C=) c.53-22C= (n.53-22C=) c.406+623C= (n.406+623C=) n.598-22C= | |
17 | g.39872248C>T | CA771906016 | ZPBP2 | c.407-22C>T (n.407-22C>T) c.341-22C>T (n.341-22C>T) c.53-22C>T (n.53-22C>T) c.406+623C>T (n.406+623C>T) n.598-22C>T | dbSNP |
17 | g.39872249A>C | CA2576255760 | ZPBP2 | c.407-21A>C (n.407-21A>C) c.341-21A>C (n.341-21A>C) c.53-21A>C (n.53-21A>C) c.406+624A>C (n.406+624A>C) n.598-21A>C | gnomAD v4 |
17 | g.39872249_39872253delinsATCTT | CA2259290820 | ZPBP2 | c.407-21_407-17delinsATCTT (n.407-21_407-17delinsATCTT) c.341-21_341-17delinsATCTT (n.341-21_341-17delinsATCTT) c.53-21_53-17delinsATCTT (n.53-21_53-17delinsATCTT) c.406+624_406+628delinsATCTT (n.406+624_406+628delinsATCTT) n.598-21_598-17delinsATCTT | |
17 | g.39872250T>A | CA2259290822 | ZPBP2 | c.407-20T>A (n.407-20T>A) c.341-20T>A (n.341-20T>A) c.53-20T>A (n.53-20T>A) c.406+625T>A (n.406+625T>A) n.598-20T>A | dbSNP |
17 | g.39872250T>C | CA2637649503 | ZPBP2 | c.407-20T>C (n.407-20T>C) c.341-20T>C (n.341-20T>C) c.53-20T>C (n.53-20T>C) c.406+625T>C (n.406+625T>C) n.598-20T>C | gnomAD v4 |
17 | g.39872250T= | CA2259290821 | ZPBP2 | c.407-20T= (n.407-20T=) c.341-20T= (n.341-20T=) c.53-20T= (n.53-20T=) c.406+625T= (n.406+625T=) n.598-20T= | |
17 | g.39872255_39872258del | CA8535948 | ZPBP2 | c.407-15_407-12del (n.407-15_407-12del) c.341-15_341-12del (n.341-15_341-12del) c.53-15_53-12del (n.53-15_53-12del) c.406+630_406+633del (n.406+630_406+633del) n.598-15_598-12del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872251del | CA2637649506 | ZPBP2 | c.407-19del (n.407-19del) c.341-19del (n.341-19del) c.53-19del (n.53-19del) c.406+626del (n.406+626del) n.598-19del | gnomAD v4 |
17 | g.39872251C>A | CA2637649507 | ZPBP2 | c.407-19C>A (n.407-19C>A) c.341-19C>A (n.341-19C>A) c.53-19C>A (n.53-19C>A) c.406+626C>A (n.406+626C>A) n.598-19C>A | gnomAD v4 |
17 | g.39872251C= | CA2259290823 | ZPBP2 | c.407-19C= (n.407-19C=) c.341-19C= (n.341-19C=) c.53-19C= (n.53-19C=) c.406+626C= (n.406+626C=) n.598-19C= | |
17 | g.39872251C>G | CA2637649509 | ZPBP2 | c.407-19C>G (n.407-19C>G) c.341-19C>G (n.341-19C>G) c.53-19C>G (n.53-19C>G) c.406+626C>G (n.406+626C>G) n.598-19C>G | gnomAD v4 |
17 | g.39872252T>A | CA625946502 | ZPBP2 | c.407-18T>A (n.407-18T>A) c.341-18T>A (n.341-18T>A) c.53-18T>A (n.53-18T>A) c.406+627T>A (n.406+627T>A) n.598-18T>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872252T>G | CA2637649513 | ZPBP2 | c.407-18T>G (n.407-18T>G) c.341-18T>G (n.341-18T>G) c.53-18T>G (n.53-18T>G) c.406+627T>G (n.406+627T>G) n.598-18T>G | gnomAD v4 |
17 | g.39872252T= | CA2259290824 | ZPBP2 | c.407-18T= (n.407-18T=) c.341-18T= (n.341-18T=) c.53-18T= (n.53-18T=) c.406+627T= (n.406+627T=) n.598-18T= | |
17 | g.39872254dup | CA8535949 | ZPBP2 | c.407-16dup (n.407-16dup) c.341-16dup (n.341-16dup) c.53-16dup (n.53-16dup) c.406+629dup (n.406+629dup) n.598-16dup | dbSNP ExAC |
17 | g.39872253T>A | CA625946503 | ZPBP2 | c.407-17T>A (n.407-17T>A) c.341-17T>A (n.341-17T>A) c.53-17T>A (n.53-17T>A) c.406+628T>A (n.406+628T>A) n.598-17T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872253T>C | CA983635280 | ZPBP2 | c.407-17T>C (n.407-17T>C) c.341-17T>C (n.341-17T>C) c.53-17T>C (n.53-17T>C) c.406+628T>C (n.406+628T>C) n.598-17T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39872253T= | CA2259290825 | ZPBP2 | c.407-17T= (n.407-17T=) c.341-17T= (n.341-17T=) c.53-17T= (n.53-17T=) c.406+628T= (n.406+628T=) n.598-17T= | |
17 | g.39872254T>C | CA2259290827 | ZPBP2 | c.407-16T>C (n.407-16T>C) c.341-16T>C (n.341-16T>C) c.53-16T>C (n.53-16T>C) c.406+629T>C (n.406+629T>C) n.598-16T>C | dbSNP gnomAD v4 |
17 | g.39872254T= | CA2259290826 | ZPBP2 | c.407-16T= (n.407-16T=) c.341-16T= (n.341-16T=) c.53-16T= (n.53-16T=) c.406+629T= (n.406+629T=) n.598-16T= | |
17 | g.39872255C>A | CA2637649519 | ZPBP2 | c.407-15C>A (n.407-15C>A) c.341-15C>A (n.341-15C>A) c.53-15C>A (n.53-15C>A) c.406+630C>A (n.406+630C>A) n.598-15C>A | gnomAD v4 |
17 | g.39872255C= | CA2259290829 | ZPBP2 | c.407-15C= (n.407-15C=) c.341-15C= (n.341-15C=) c.53-15C= (n.53-15C=) c.406+630C= (n.406+630C=) n.598-15C= | |
17 | g.39872255C>T | CA8535952 | ZPBP2 | c.407-15C>T (n.407-15C>T) c.341-15C>T (n.341-15C>T) c.53-15C>T (n.53-15C>T) c.406+630C>T (n.406+630C>T) n.598-15C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872255_39872256delinsCT | CA2259290828 | ZPBP2 | c.407-15_407-14delinsCT (n.407-15_407-14delinsCT) c.341-15_341-14delinsCT (n.341-15_341-14delinsCT) c.53-15_53-14delinsCT (n.53-15_53-14delinsCT) c.406+630_406+631delinsCT (n.406+630_406+631delinsCT) n.598-15_598-14delinsCT | |
17 | g.39872256T>C | CA625946504 | ZPBP2 | c.407-14T>C (n.407-14T>C) c.341-14T>C (n.341-14T>C) c.53-14T>C (n.53-14T>C) c.406+631T>C (n.406+631T>C) n.598-14T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872256T= | CA2259290830 | ZPBP2 | c.407-14T= (n.407-14T=) c.341-14T= (n.341-14T=) c.53-14T= (n.53-14T=) c.406+631T= (n.406+631T=) n.598-14T= | |
17 | g.39872265dup | CA8535951 | ZPBP2 | c.407-5dup (n.407-5dup) c.341-5dup (n.341-5dup) c.53-5dup (n.53-5dup) c.406+640dup (n.406+640dup) n.598-5dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872264_39872265dup | CA625946505 | ZPBP2 | c.407-6_407-5dup (n.407-6_407-5dup) c.341-6_341-5dup (n.341-6_341-5dup) c.53-6_53-5dup (n.53-6_53-5dup) c.406+639_406+640dup (n.406+639_406+640dup) n.598-6_598-5dup | gnomAD v2 gnomAD v4 |
17 | g.39872263_39872265dup | CA2560358291 | ZPBP2 | c.407-7_407-5dup (n.407-7_407-5dup) c.341-7_341-5dup (n.341-7_341-5dup) c.53-7_53-5dup (n.53-7_53-5dup) c.406+638_406+640dup (n.406+638_406+640dup) n.598-7_598-5dup | gnomAD v4 |
17 | g.39872262_39872265dup | CA2637649534 | ZPBP2 | c.407-8_407-5dup (n.407-8_407-5dup) c.341-8_341-5dup (n.341-8_341-5dup) c.53-8_53-5dup (n.53-8_53-5dup) c.406+637_406+640dup (n.406+637_406+640dup) n.598-8_598-5dup | gnomAD v4 |
17 | g.39872261_39872265dup | CA2637649535 | ZPBP2 | c.407-9_407-5dup (n.407-9_407-5dup) c.341-9_341-5dup (n.341-9_341-5dup) c.53-9_53-5dup (n.53-9_53-5dup) c.406+636_406+640dup (n.406+636_406+640dup) n.598-9_598-5dup | gnomAD v4 |
17 | g.39872259_39872265dup | CA2637649537 | ZPBP2 | c.407-11_407-5dup (n.407-11_407-5dup) c.341-11_341-5dup (n.341-11_341-5dup) c.53-11_53-5dup (n.53-11_53-5dup) c.406+634_406+640dup (n.406+634_406+640dup) n.598-11_598-5dup | gnomAD v4 |
17 | g.39872265del | CA8535950 | ZPBP2 | c.407-5del (n.407-5del) c.341-5del (n.341-5del) c.53-5del (n.53-5del) c.406+640del (n.406+640del) n.598-5del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.39872264_39872265del | CA983635288 | ZPBP2 | c.407-6_407-5del (n.407-6_407-5del) c.341-6_341-5del (n.341-6_341-5del) c.53-6_53-5del (n.53-6_53-5del) c.406+639_406+640del (n.406+639_406+640del) n.598-6_598-5del | gnomAD v3 gnomAD v4 |
17 | g.39872257T>C | CA656534829 | ZPBP2 | c.407-13T>C (n.407-13T>C) c.341-13T>C (n.341-13T>C) c.53-13T>C (n.53-13T>C) c.406+632T>C (n.406+632T>C) n.598-13T>C | COSMIC |
17 | g.39872257T>G | CA2637649556 | ZPBP2 | c.407-13T>G (n.407-13T>G) c.341-13T>G (n.341-13T>G) c.53-13T>G (n.53-13T>G) c.406+632T>G (n.406+632T>G) n.598-13T>G | gnomAD v4 |
17 | g.39872259T>C | CA2637649558 | ZPBP2 | c.407-11T>C (n.407-11T>C) c.341-11T>C (n.341-11T>C) c.53-11T>C (n.53-11T>C) c.406+634T>C (n.406+634T>C) n.598-11T>C | gnomAD v4 |
17 | g.39872260T>A | CA2576255761 | ZPBP2 | c.407-10T>A (n.407-10T>A) c.341-10T>A (n.341-10T>A) c.53-10T>A (n.53-10T>A) c.406+635T>A (n.406+635T>A) n.598-10T>A | |
17 | g.39872260T>G | CA290455678 | ZPBP2 | c.407-10T>G (n.407-10T>G) c.341-10T>G (n.341-10T>G) c.53-10T>G (n.53-10T>G) c.406+635T>G (n.406+635T>G) n.598-10T>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872260T= | CA2259290831 | ZPBP2 | c.407-10T= (n.407-10T=) c.341-10T= (n.341-10T=) c.53-10T= (n.53-10T=) c.406+635T= (n.406+635T=) n.598-10T= | |
17 | g.39872261T>C | CA2637649564 | ZPBP2 | c.407-9T>C (n.407-9T>C) c.341-9T>C (n.341-9T>C) c.53-9T>C (n.53-9T>C) c.406+636T>C (n.406+636T>C) n.598-9T>C | gnomAD v4 |
17 | g.39872265T>A | CA771906032 | ZPBP2 | c.407-5T>A (n.407-5T>A) c.341-5T>A (n.341-5T>A) c.53-5T>A (n.53-5T>A) c.406+640T>A (n.406+640T>A) n.598-5T>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39872265T= | CA2259290832 | ZPBP2 | c.407-5T= (n.407-5T=) c.341-5T= (n.341-5T=) c.53-5T= (n.53-5T=) c.406+640T= (n.406+640T=) n.598-5T= | |
17 | g.39872266A= | CA2259290833 | ZPBP2 | c.407-4A= (n.407-4A=) c.341-4A= (n.341-4A=) c.53-4A= (n.53-4A=) c.406+641A= (n.406+641A=) n.598-4A= | |
17 | g.39872266A>T | CA8535953 | ZPBP2 | c.407-4A>T (n.407-4A>T) c.341-4A>T (n.341-4A>T) c.53-4A>T (n.53-4A>T) c.406+641A>T (n.406+641A>T) n.598-4A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872268dup | CA2637649570 | ZPBP2 | c.407-2dup (n.407-2dup) c.341-2dup (n.341-2dup) c.53-2dup (n.53-2dup) c.406+643dup (n.406+643dup) n.598-2dup | gnomAD v4 |
17 | g.39872268del | CA2637649571 | ZPBP2 | c.407-2del (n.407-2del) c.341-2del (n.341-2del) c.53-2del (n.53-2del) c.406+643del (n.406+643del) n.598-2del | gnomAD v4 |
17 | g.39872266_39872270del | CA2637649572 | ZPBP2 | c.407-4_407del c.341-4_341del c.53-4_53del c.406+641_406+645del (n.406+641_406+645del) n.598-4_598del | gnomAD v4 |
17 | g.39872266_39872271del | CA983635307 | ZPBP2 | c.407-4_408del c.341-4_342del c.53-4_54del c.406+641_406+646del (n.406+641_406+646del) n.598-4_599del | gnomAD v3 gnomAD v4 |
17 | g.39872267A= | CA2259290834 | ZPBP2 | c.407-3A= (n.407-3A=) c.341-3A= (n.341-3A=) c.53-3A= (n.53-3A=) c.406+642A= (n.406+642A=) n.598-3A= | |
17 | g.39872267A>C | CA8535954 | ZPBP2 | c.407-3A>C (n.407-3A>C) c.341-3A>C (n.341-3A>C) c.53-3A>C (n.53-3A>C) c.406+642A>C (n.406+642A>C) n.598-3A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872267A>T | CA2637649581 | ZPBP2 | c.407-3A>T (n.407-3A>T) c.341-3A>T (n.341-3A>T) c.53-3A>T (n.53-3A>T) c.406+642A>T (n.406+642A>T) n.598-3A>T | gnomAD v4 |
17 | g.39872268A>C | CA399279152 | ZPBP2 | c.407-2A>C (n.407-2A>C) c.341-2A>C (n.341-2A>C) c.53-2A>C (n.53-2A>C) c.406+643A>C (n.406+643A>C) n.598-2A>C | |
17 | g.39872268A>G | CA399279155 | ZPBP2 | c.407-2A>G (n.407-2A>G) c.341-2A>G (n.341-2A>G) c.53-2A>G (n.53-2A>G) c.406+643A>G (n.406+643A>G) n.598-2A>G | gnomAD v4 |
17 | g.39872268A>T | CA399279157 | ZPBP2 | c.407-2A>T (n.407-2A>T) c.341-2A>T (n.341-2A>T) c.53-2A>T (n.53-2A>T) c.406+643A>T (n.406+643A>T) n.598-2A>T | gnomAD v4 |
17 | g.39872269G>A | CA399279162 | ZPBP2 | c.407-1G>A (n.407-1G>A) c.341-1G>A (n.341-1G>A) c.53-1G>A (n.53-1G>A) c.406+644G>A (n.406+644G>A) n.598-1G>A | dbSNP gnomAD v4 |
17 | g.39872269G>C | CA399279159 | ZPBP2 | c.407-1G>C (n.407-1G>C) c.341-1G>C (n.341-1G>C) c.53-1G>C (n.53-1G>C) c.406+644G>C (n.406+644G>C) n.598-1G>C | |
17 | g.39872269G= | CA2259290835 | ZPBP2 | c.407-1G= (n.407-1G=) c.341-1G= (n.341-1G=) c.53-1G= (n.53-1G=) c.406+644G= (n.406+644G=) n.598-1G= | |
17 | g.39872269G>T | CA399279161 | ZPBP2 | c.407-1G>T (n.407-1G>T) c.341-1G>T (n.341-1G>T) c.53-1G>T (n.53-1G>T) c.406+644G>T (n.406+644G>T) n.598-1G>T | gnomAD v4 |
17 | g.39872270C>A | CA399279165 | ZPBP2 | c.407C>A (p.Ala136Asp) c.341C>A (p.Ala114Asp) c.53C>A (p.Ala18Asp) c.406+645C>A (n.406+645C>A) n.598C>A | gnomAD v4 |
17 | g.39872270C= | CA2259290836 | ZPBP2 | c.407C= (p.Ala136=) c.341C= (p.Ala114=) c.53C= (p.Ala18=) c.406+645C= (n.406+645C=) n.598C= | |
17 | g.39872270C>G | CA399279168 | ZPBP2 | c.407C>G (p.Ala136Gly) c.341C>G (p.Ala114Gly) c.53C>G (p.Ala18Gly) c.406+645C>G (n.406+645C>G) n.598C>G | |
17 | g.39872270C>T | CA399279170 | ZPBP2 | c.407C>T (p.Ala136Val) c.341C>T (p.Ala114Val) c.53C>T (p.Ala18Val) c.406+645C>T (n.406+645C>T) n.598C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872271C>A | CA499931567 | ZPBP2 | c.408C>A (p.Ala136=) c.342C>A (p.Ala114=) c.54C>A (p.Ala18=) c.406+646C>A (n.406+646C>A) n.599C>A | gnomAD v4 |
17 | g.39872271C= | CA2259290837 | ZPBP2 | c.408C= (p.Ala136=) c.342C= (p.Ala114=) c.54C= (p.Ala18=) c.406+646C= (n.406+646C=) n.599C= | |
17 | g.39872271C>G | CA499931569 | ZPBP2 | c.408C>G (p.Ala136=) c.342C>G (p.Ala114=) c.54C>G (p.Ala18=) c.406+646C>G (n.406+646C>G) n.599C>G | |
17 | g.39872271C>T | CA499931571 | ZPBP2 | c.408C>T (p.Ala136=) c.342C>T (p.Ala114=) c.54C>T (p.Ala18=) c.406+646C>T (n.406+646C>T) n.599C>T | dbSNP gnomAD v4 |
17 | g.39872272T>A | CA399279173 | ZPBP2 | c.409T>A (p.Tyr137Asn) c.343T>A (p.Tyr115Asn) c.55T>A (p.Tyr19Asn) c.406+647T>A (n.406+647T>A) n.600T>A | |
17 | g.39872272T>C | CA399279175 | ZPBP2 | c.409T>C (p.Tyr137His) c.343T>C (p.Tyr115His) c.55T>C (p.Tyr19His) c.406+647T>C (n.406+647T>C) n.600T>C | |
17 | g.39872272T>G | CA399279177 | ZPBP2 | c.409T>G (p.Tyr137Asp) c.343T>G (p.Tyr115Asp) c.55T>G (p.Tyr19Asp) c.406+647T>G (n.406+647T>G) n.600T>G | |
17 | g.39872272_39872273insTTTTTT | CA983635316 | ZPBP2 | c.409_410insTTTTTT (p.Ala136_Tyr137insPhePhe) c.343_344insTTTTTT (p.Ala114_Tyr115insPhePhe) c.55_56insTTTTTT (p.Ala18_Tyr19insPhePhe) c.406+647_406+648insTTTTTT (n.406+647_406+648insTTTTTT) n.600_601insTTTTTT | gnomAD v3 gnomAD v4 |
17 | g.39872273A= | CA2259290838 | ZPBP2 | c.410A= (p.Tyr137=) c.344A= (p.Tyr115=) c.56A= (p.Tyr19=) c.406+648A= (n.406+648A=) n.601A= | |
17 | g.39872273A>C | CA399279180 | ZPBP2 | c.410A>C (p.Tyr137Ser) c.344A>C (p.Tyr115Ser) c.56A>C (p.Tyr19Ser) c.406+648A>C (n.406+648A>C) n.601A>C | |
17 | g.39872273A>G | CA399279182 | ZPBP2 | c.410A>G (p.Tyr137Cys) c.344A>G (p.Tyr115Cys) c.56A>G (p.Tyr19Cys) c.406+648A>G (n.406+648A>G) n.601A>G | dbSNP gnomAD v4 |
17 | g.39872273A>T | CA399279183 | ZPBP2 | c.410A>T (p.Tyr137Phe) c.344A>T (p.Tyr115Phe) c.56A>T (p.Tyr19Phe) c.406+648A>T (n.406+648A>T) n.601A>T | dbSNP gnomAD v4 |
17 | g.39872274T>A | CA399279184 | ZPBP2 | c.411T>A (p.Tyr137Ter) c.345T>A (p.Tyr115Ter) c.57T>A (p.Tyr19Ter) c.406+649T>A (n.406+649T>A) n.602T>A | |
17 | g.39872274T>C | CA499931579 | ZPBP2 | c.411T>C (p.Tyr137=) c.345T>C (p.Tyr115=) c.57T>C (p.Tyr19=) c.406+649T>C (n.406+649T>C) n.602T>C | |
17 | g.39872274T>G | CA399279185 | ZPBP2 | c.411T>G (p.Tyr137Ter) c.345T>G (p.Tyr115Ter) c.57T>G (p.Tyr19Ter) c.406+649T>G (n.406+649T>G) n.602T>G | |
17 | g.39872275C>A | CA499931586 | ZPBP2 | c.412C>A (p.Arg138=) c.346C>A (p.Arg116=) c.58C>A (p.Arg20=) c.406+650C>A (n.406+650C>A) n.603C>A | dbSNP gnomAD v4 |
17 | g.39872275C= | CA2259290839 | ZPBP2 | c.412C= (p.Arg138=) c.346C= (p.Arg116=) c.58C= (p.Arg20=) c.406+650C= (n.406+650C=) n.603C= | |
17 | g.39872275C>G | CA8535955 | ZPBP2 | c.412C>G (p.Arg138Gly) c.346C>G (p.Arg116Gly) c.58C>G (p.Arg20Gly) c.406+650C>G (n.406+650C>G) n.603C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872275C>T | CA8535956 | ZPBP2 | c.412C>T (p.Arg138Trp) c.346C>T (p.Arg116Trp) c.58C>T (p.Arg20Trp) c.406+650C>T (n.406+650C>T) n.603C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.39872276G>A | CA290455726 | ZPBP2 | c.413G>A (p.Arg138Gln) c.347G>A (p.Arg116Gln) c.59G>A (p.Arg20Gln) c.406+651G>A (n.406+651G>A) n.604G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872276G>C | CA399279197 | ZPBP2 | c.413G>C (p.Arg138Pro) c.347G>C (p.Arg116Pro) c.59G>C (p.Arg20Pro) c.406+651G>C (n.406+651G>C) n.604G>C | |
17 | g.39872276G= | CA2259290840 | ZPBP2 | c.413G= (p.Arg138=) c.347G= (p.Arg116=) c.59G= (p.Arg20=) c.406+651G= (n.406+651G=) n.604G= | |
17 | g.39872276G>T | CA399279195 | ZPBP2 | c.413G>T (p.Arg138Leu) c.347G>T (p.Arg116Leu) c.59G>T (p.Arg20Leu) c.406+651G>T (n.406+651G>T) n.604G>T | gnomAD v4 |
17 | g.39872278del | CA2637649595 | ZPBP2 | c.415del (p.Glu139AsnfsTer18) c.349del (p.Glu117AsnfsTer18) c.61del (p.Glu21AsnfsTer18) c.406+653del (n.406+653del) n.606del | gnomAD v4 |
17 | g.39872277G>A | CA499931590 | ZPBP2 | c.414G>A (p.Arg138=) c.348G>A (p.Arg116=) c.60G>A (p.Arg20=) c.406+652G>A (n.406+652G>A) n.605G>A | gnomAD v4 |
17 | g.39872277G>C | CA499931589 | ZPBP2 | c.414G>C (p.Arg138=) c.348G>C (p.Arg116=) c.60G>C (p.Arg20=) c.406+652G>C (n.406+652G>C) n.605G>C | |
17 | g.39872277G>T | CA499931588 | ZPBP2 | c.414G>T (p.Arg138=) c.348G>T (p.Arg116=) c.60G>T (p.Arg20=) c.406+652G>T (n.406+652G>T) n.605G>T | gnomAD v4 |
17 | g.39872278G>A | CA399279200 | ZPBP2 | c.415G>A (p.Glu139Lys) c.349G>A (p.Glu117Lys) c.61G>A (p.Glu21Lys) c.406+653G>A (n.406+653G>A) n.606G>A | COSMIC |
17 | g.39872278G>C | CA399279203 | ZPBP2 | c.415G>C (p.Glu139Gln) c.349G>C (p.Glu117Gln) c.61G>C (p.Glu21Gln) c.406+653G>C (n.406+653G>C) n.606G>C | |
17 | g.39872278G>T | CA399279205 | ZPBP2 | c.415G>T (p.Glu139Ter) c.349G>T (p.Glu117Ter) c.61G>T (p.Glu21Ter) c.406+653G>T (n.406+653G>T) n.606G>T | gnomAD v4 |
17 | g.39872279A>C | CA399279208 | ZPBP2 | c.416A>C (p.Glu139Ala) c.350A>C (p.Glu117Ala) c.62A>C (p.Glu21Ala) c.406+654A>C (n.406+654A>C) n.607A>C | |
17 | g.39872279A>G | CA399279209 | ZPBP2 | c.416A>G (p.Glu139Gly) c.350A>G (p.Glu117Gly) c.62A>G (p.Glu21Gly) c.406+654A>G (n.406+654A>G) n.607A>G | |
17 | g.39872279A>T | CA399279212 | ZPBP2 | c.416A>T (p.Glu139Val) c.350A>T (p.Glu117Val) c.62A>T (p.Glu21Val) c.406+654A>T (n.406+654A>T) n.607A>T | |
17 | g.39872280A= | CA2259290841 | ZPBP2 | c.417A= (p.Glu139=) c.351A= (p.Glu117=) c.63A= (p.Glu21=) c.406+655A= (n.406+655A=) n.608A= | |
17 | g.39872280A>C | CA399279214 | ZPBP2 | c.417A>C (p.Glu139Asp) c.351A>C (p.Glu117Asp) c.63A>C (p.Glu21Asp) c.406+655A>C (n.406+655A>C) n.608A>C | |
17 | g.39872280A>G | CA8535957 | ZPBP2 | c.417A>G (p.Glu139=) c.351A>G (p.Glu117=) c.63A>G (p.Glu21=) c.406+655A>G (n.406+655A>G) n.608A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872280A>T | CA399279216 | ZPBP2 | c.417A>T (p.Glu139Asp) c.351A>T (p.Glu117Asp) c.63A>T (p.Glu21Asp) c.406+655A>T (n.406+655A>T) n.608A>T | |
17 | g.39872281C>A | CA399279219 | ZPBP2 | c.418C>A (p.Pro140Thr) c.352C>A (p.Pro118Thr) c.64C>A (p.Pro22Thr) c.406+656C>A (n.406+656C>A) n.609C>A | gnomAD v4 |
17 | g.39872281C>G | CA399279224 | ZPBP2 | c.418C>G (p.Pro140Ala) c.352C>G (p.Pro118Ala) c.64C>G (p.Pro22Ala) c.406+656C>G (n.406+656C>G) n.609C>G | |
17 | g.39872281C>T | CA399279226 | ZPBP2 | c.418C>T (p.Pro140Ser) c.352C>T (p.Pro118Ser) c.64C>T (p.Pro22Ser) c.406+656C>T (n.406+656C>T) n.609C>T | |
17 | g.39872282C>A | CA399279229 | ZPBP2 | c.419C>A (p.Pro140His) c.353C>A (p.Pro118His) c.65C>A (p.Pro22His) c.406+657C>A (n.406+657C>A) n.610C>A | gnomAD v4 |
17 | g.39872282C>G | CA399279228 | ZPBP2 | c.419C>G (p.Pro140Arg) c.353C>G (p.Pro118Arg) c.65C>G (p.Pro22Arg) c.406+657C>G (n.406+657C>G) n.610C>G | |
17 | g.39872282C>T | CA399279227 | ZPBP2 | c.419C>T (p.Pro140Leu) c.353C>T (p.Pro118Leu) c.65C>T (p.Pro22Leu) c.406+657C>T (n.406+657C>T) n.610C>T | gnomAD v4 |
17 | g.39872283T>A | CA499931591 | ZPBP2 | c.420T>A (p.Pro140=) c.354T>A (p.Pro118=) c.66T>A (p.Pro22=) c.406+658T>A (n.406+658T>A) n.611T>A | |
17 | g.39872283T>C | CA8535958 | ZPBP2 | c.420T>C (p.Pro140=) c.354T>C (p.Pro118=) c.66T>C (p.Pro22=) c.406+658T>C (n.406+658T>C) n.611T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872283T>G | CA499931592 | ZPBP2 | c.420T>G (p.Pro140=) c.354T>G (p.Pro118=) c.66T>G (p.Pro22=) c.406+658T>G (n.406+658T>G) n.611T>G | |
17 | g.39872283T= | CA2259290842 | ZPBP2 | c.420T= (p.Pro140=) c.354T= (p.Pro118=) c.66T= (p.Pro22=) c.406+658T= (n.406+658T=) n.611T= | |
17 | g.39872284G>A | CA399279232 | ZPBP2 | c.421G>A (p.Asp141Asn) c.355G>A (p.Asp119Asn) c.67G>A (p.Asp23Asn) c.406+659G>A (n.406+659G>A) n.612G>A | dbSNP COSMIC |
17 | g.39872284G>C | CA399279235 | ZPBP2 | c.421G>C (p.Asp141His) c.355G>C (p.Asp119His) c.67G>C (p.Asp23His) c.406+659G>C (n.406+659G>C) n.612G>C | |
17 | g.39872284G= | CA2259290843 | ZPBP2 | c.421G= (p.Asp141=) c.355G= (p.Asp119=) c.67G= (p.Asp23=) c.406+659G= (n.406+659G=) n.612G= | |
17 | g.39872284G>T | CA399279236 | ZPBP2 | c.421G>T (p.Asp141Tyr) c.355G>T (p.Asp119Tyr) c.67G>T (p.Asp23Tyr) c.406+659G>T (n.406+659G>T) n.612G>T | gnomAD v4 |
17 | g.39872285A= | CA2259290844 | ZPBP2 | c.422A= (p.Asp141=) c.356A= (p.Asp119=) c.68A= (p.Asp23=) c.406+660A= (n.406+660A=) n.613A= | |
17 | g.39872285A>C | CA399279239 | ZPBP2 | c.422A>C (p.Asp141Ala) c.356A>C (p.Asp119Ala) c.68A>C (p.Asp23Ala) c.406+660A>C (n.406+660A>C) n.613A>C | |
17 | g.39872285A>G | CA399279242 | ZPBP2 | c.422A>G (p.Asp141Gly) c.356A>G (p.Asp119Gly) c.68A>G (p.Asp23Gly) c.406+660A>G (n.406+660A>G) n.613A>G | dbSNP |
17 | g.39872285A>T | CA399279243 | ZPBP2 | c.422A>T (p.Asp141Val) c.356A>T (p.Asp119Val) c.68A>T (p.Asp23Val) c.406+660A>T (n.406+660A>T) n.613A>T | |
17 | g.39872286T>A | CA399279249 | ZPBP2 | c.423T>A (p.Asp141Glu) c.357T>A (p.Asp119Glu) c.69T>A (p.Asp23Glu) c.406+661T>A (n.406+661T>A) n.614T>A | |
17 | g.39872286T>C | CA499931593 | ZPBP2 | c.423T>C (p.Asp141=) c.357T>C (p.Asp119=) c.69T>C (p.Asp23=) c.406+661T>C (n.406+661T>C) n.614T>C | |
17 | g.39872286T>G | CA399279251 | ZPBP2 | c.423T>G (p.Asp141Glu) c.357T>G (p.Asp119Glu) c.69T>G (p.Asp23Glu) c.406+661T>G (n.406+661T>G) n.614T>G | |
17 | g.39872287T>A | CA399279253 | ZPBP2 | c.424T>A (p.Tyr142Asn) c.358T>A (p.Tyr120Asn) c.70T>A (p.Tyr24Asn) c.406+662T>A (n.406+662T>A) n.615T>A | |
17 | g.39872287T>C | CA399279255 | ZPBP2 | c.424T>C (p.Tyr142His) c.358T>C (p.Tyr120His) c.70T>C (p.Tyr24His) c.406+662T>C (n.406+662T>C) n.615T>C | |
17 | g.39872287T>G | CA399279257 | ZPBP2 | c.424T>G (p.Tyr142Asp) c.358T>G (p.Tyr120Asp) c.70T>G (p.Tyr24Asp) c.406+662T>G (n.406+662T>G) n.615T>G | |
17 | g.39872288A= | CA2259290845 | ZPBP2 | c.425A= (p.Tyr142=) c.359A= (p.Tyr120=) c.71A= (p.Tyr24=) c.406+663A= (n.406+663A=) n.616A= | |
17 | g.39872288A>C | CA399279266 | ZPBP2 | c.425A>C (p.Tyr142Ser) c.359A>C (p.Tyr120Ser) c.71A>C (p.Tyr24Ser) c.406+663A>C (n.406+663A>C) n.616A>C | |
17 | g.39872288A>G | CA399279265 | ZPBP2 | c.425A>G (p.Tyr142Cys) c.359A>G (p.Tyr120Cys) c.71A>G (p.Tyr24Cys) c.406+663A>G (n.406+663A>G) n.616A>G | |
17 | g.39872288A>T | CA8535959 | ZPBP2 | c.425A>T (p.Tyr142Phe) c.359A>T (p.Tyr120Phe) c.71A>T (p.Tyr24Phe) c.406+663A>T (n.406+663A>T) n.616A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872289T>A | CA399279267 | ZPBP2 | c.426T>A (p.Tyr142Ter) c.360T>A (p.Tyr120Ter) c.72T>A (p.Tyr24Ter) c.406+664T>A (n.406+664T>A) n.617T>A | |
17 | g.39872289T>C | CA499931595 | ZPBP2 | c.426T>C (p.Tyr142=) c.360T>C (p.Tyr120=) c.72T>C (p.Tyr24=) c.406+664T>C (n.406+664T>C) n.617T>C | |
17 | g.39872289T>G | CA399279268 | ZPBP2 | c.426T>G (p.Tyr142Ter) c.360T>G (p.Tyr120Ter) c.72T>G (p.Tyr24Ter) c.406+664T>G (n.406+664T>G) n.617T>G | |
17 | g.39872290T>A | CA399279270 | ZPBP2 | c.427T>A (p.Ser143Thr) c.361T>A (p.Ser121Thr) c.73T>A (p.Ser25Thr) c.406+665T>A (n.406+665T>A) n.618T>A | |
17 | g.39872290T>C | CA399279274 | ZPBP2 | c.427T>C (p.Ser143Pro) c.361T>C (p.Ser121Pro) c.73T>C (p.Ser25Pro) c.406+665T>C (n.406+665T>C) n.618T>C | |
17 | g.39872290T>G | CA399279272 | ZPBP2 | c.427T>G (p.Ser143Ala) c.361T>G (p.Ser121Ala) c.73T>G (p.Ser25Ala) c.406+665T>G (n.406+665T>G) n.618T>G | |
17 | g.39872291C>A | CA399279277 | ZPBP2 | c.428C>A (p.Ser143Ter) c.362C>A (p.Ser121Ter) c.74C>A (p.Ser25Ter) c.406+666C>A (n.406+666C>A) n.619C>A | |
17 | g.39872291C= | CA2259290846 | ZPBP2 | c.428C= (p.Ser143=) c.362C= (p.Ser121=) c.74C= (p.Ser25=) c.406+666C= (n.406+666C=) n.619C= | |
17 | g.39872291C>G | CA399279281 | ZPBP2 | c.428C>G (p.Ser143Ter) c.362C>G (p.Ser121Ter) c.74C>G (p.Ser25Ter) c.406+666C>G (n.406+666C>G) n.619C>G | |
17 | g.39872291C>T | CA290455765 | ZPBP2 | c.428C>T (p.Ser143Leu) c.362C>T (p.Ser121Leu) c.74C>T (p.Ser25Leu) c.406+666C>T (n.406+666C>T) n.619C>T | dbSNP gnomAD v4 |
17 | g.39872292A= | CA2259290847 | ZPBP2 | c.429A= (p.Ser143=) c.363A= (p.Ser121=) c.75A= (p.Ser25=) c.406+667A= (n.406+667A=) n.620A= | |
17 | g.39872292A>C | CA499931597 | ZPBP2 | c.429A>C (p.Ser143=) c.363A>C (p.Ser121=) c.75A>C (p.Ser25=) c.406+667A>C (n.406+667A>C) n.620A>C | |
17 | g.39872292A>G | CA290455770 | ZPBP2 | c.429A>G (p.Ser143=) c.363A>G (p.Ser121=) c.75A>G (p.Ser25=) c.406+667A>G (n.406+667A>G) n.620A>G | dbSNP gnomAD v4 |
17 | g.39872292A>T | CA499931598 | ZPBP2 | c.429A>T (p.Ser143=) c.363A>T (p.Ser121=) c.75A>T (p.Ser25=) c.406+667A>T (n.406+667A>T) n.620A>T | |
17 | g.39872293T>A | CA399279286 | ZPBP2 | c.430T>A (p.Tyr144Asn) c.364T>A (p.Tyr122Asn) c.76T>A (p.Tyr26Asn) c.406+668T>A (n.406+668T>A) n.621T>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872293T>C | CA399279285 | ZPBP2 | c.430T>C (p.Tyr144His) c.364T>C (p.Tyr122His) c.76T>C (p.Tyr26His) c.406+668T>C (n.406+668T>C) n.621T>C | gnomAD v4 |
17 | g.39872293T>G | CA399279290 | ZPBP2 | c.430T>G (p.Tyr144Asp) c.364T>G (p.Tyr122Asp) c.76T>G (p.Tyr26Asp) c.406+668T>G (n.406+668T>G) n.621T>G | |
17 | g.39872293T= | CA2259290848 | ZPBP2 | c.430T= (p.Tyr144=) c.364T= (p.Tyr122=) c.76T= (p.Tyr26=) c.406+668T= (n.406+668T=) n.621T= | |
17 | g.39872294A>C | CA399279292 | ZPBP2 | c.431A>C (p.Tyr144Ser) c.365A>C (p.Tyr122Ser) c.77A>C (p.Tyr26Ser) c.406+669A>C (n.406+669A>C) n.622A>C | |
17 | g.39872294A>G | CA399279299 | ZPBP2 | c.431A>G (p.Tyr144Cys) c.365A>G (p.Tyr122Cys) c.77A>G (p.Tyr26Cys) c.406+669A>G (n.406+669A>G) n.622A>G | |
17 | g.39872294A>T | CA399279295 | ZPBP2 | c.431A>T (p.Tyr144Phe) c.365A>T (p.Tyr122Phe) c.77A>T (p.Tyr26Phe) c.406+669A>T (n.406+669A>T) n.622A>T | gnomAD v4 |
17 | g.39872296_39872300dup | CA983635327 | ZPBP2 | c.433_437dup (p.Met146IlefsTer13) c.367_371dup (p.Met124IlefsTer13) c.79_83dup (p.Met28IlefsTer13) c.406+671_406+675dup (n.406+671_406+675dup) n.624_628dup | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39872295T>A | CA399279301 | ZPBP2 | c.432T>A (p.Tyr144Ter) c.366T>A (p.Tyr122Ter) c.78T>A (p.Tyr26Ter) c.406+670T>A (n.406+670T>A) n.623T>A | |
17 | g.39872295T>C | CA499931602 | ZPBP2 | c.432T>C (p.Tyr144=) c.366T>C (p.Tyr122=) c.78T>C (p.Tyr26=) c.406+670T>C (n.406+670T>C) n.623T>C | gnomAD v4 |
17 | g.39872295T>G | CA399279303 | ZPBP2 | c.432T>G (p.Tyr144Ter) c.366T>G (p.Tyr122Ter) c.78T>G (p.Tyr26Ter) c.406+670T>G (n.406+670T>G) n.623T>G | |
17 | g.39872296C>A | CA399279308 | ZPBP2 | c.433C>A (p.Gln145Lys) c.367C>A (p.Gln123Lys) c.79C>A (p.Gln27Lys) c.406+671C>A (n.406+671C>A) n.624C>A | gnomAD v4 |
17 | g.39872296C>G | CA399279310 | ZPBP2 | c.433C>G (p.Gln145Glu) c.367C>G (p.Gln123Glu) c.79C>G (p.Gln27Glu) c.406+671C>G (n.406+671C>G) n.624C>G | |
17 | g.39872296C>T | CA399279313 | ZPBP2 | c.433C>T (p.Gln145Ter) c.367C>T (p.Gln123Ter) c.79C>T (p.Gln27Ter) c.406+671C>T (n.406+671C>T) n.624C>T | gnomAD v4 |
17 | g.39872297A= | CA2259290849 | ZPBP2 | c.434A= (p.Gln145=) c.368A= (p.Gln123=) c.80A= (p.Gln27=) c.406+672A= (n.406+672A=) n.625A= | |
17 | g.39872297A>C | CA399279315 | ZPBP2 | c.434A>C (p.Gln145Pro) c.368A>C (p.Gln123Pro) c.80A>C (p.Gln27Pro) c.406+672A>C (n.406+672A>C) n.625A>C | |
17 | g.39872297A>G | CA8535960 | ZPBP2 | c.434A>G (p.Gln145Arg) c.368A>G (p.Gln123Arg) c.80A>G (p.Gln27Arg) c.406+672A>G (n.406+672A>G) n.625A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872297A>T | CA399279320 | ZPBP2 | c.434A>T (p.Gln145Leu) c.368A>T (p.Gln123Leu) c.80A>T (p.Gln27Leu) c.406+672A>T (n.406+672A>T) n.625A>T | |
17 | g.39872298G>A | CA499931603 | ZPBP2 | c.435G>A (p.Gln145=) c.369G>A (p.Gln123=) c.81G>A (p.Gln27=) c.406+673G>A (n.406+673G>A) n.626G>A | |
17 | g.39872298G>C | CA399279324 | ZPBP2 | c.435G>C (p.Gln145His) c.369G>C (p.Gln123His) c.81G>C (p.Gln27His) c.406+673G>C (n.406+673G>C) n.626G>C | |
17 | g.39872298G>T | CA399279325 | ZPBP2 | c.435G>T (p.Gln145His) c.369G>T (p.Gln123His) c.81G>T (p.Gln27His) c.406+673G>T (n.406+673G>T) n.626G>T | |
17 | g.39872299A= | CA2259290850 | ZPBP2 | c.436A= (p.Met146=) c.370A= (p.Met124=) c.82A= (p.Met28=) c.406+674A= (n.406+674A=) n.627A= | |
17 | g.39872299A>C | CA399279328 | ZPBP2 | c.436A>C (p.Met146Leu) c.370A>C (p.Met124Leu) c.82A>C (p.Met28Leu) c.406+674A>C (n.406+674A>C) n.627A>C | |
17 | g.39872299A>G | CA399279331 | ZPBP2 | c.436A>G (p.Met146Val) c.370A>G (p.Met124Val) c.82A>G (p.Met28Val) c.406+674A>G (n.406+674A>G) n.627A>G | |
17 | g.39872299A>T | CA399279334 | ZPBP2 | c.436A>T (p.Met146Leu) c.370A>T (p.Met124Leu) c.82A>T (p.Met28Leu) c.406+674A>T (n.406+674A>T) n.627A>T | dbSNP |
17 | g.39872300T>A | CA399279338 | ZPBP2 | c.437T>A (p.Met146Lys) c.371T>A (p.Met124Lys) c.83T>A (p.Met28Lys) c.406+675T>A (n.406+675T>A) n.628T>A | |
17 | g.39872300T>C | CA399279343 | ZPBP2 | c.437T>C (p.Met146Thr) c.371T>C (p.Met124Thr) c.83T>C (p.Met28Thr) c.406+675T>C (n.406+675T>C) n.628T>C | dbSNP gnomAD v4 |
17 | g.39872300T>G | CA399279341 | ZPBP2 | c.437T>G (p.Met146Arg) c.371T>G (p.Met124Arg) c.83T>G (p.Met28Arg) c.406+675T>G (n.406+675T>G) n.628T>G | |
17 | g.39872300T= | CA2259290851 | ZPBP2 | c.437T= (p.Met146=) c.371T= (p.Met124=) c.83T= (p.Met28=) c.406+675T= (n.406+675T=) n.628T= | |
17 | g.39872300_39872302dup | CA2637649627 | ZPBP2 | c.437_439dup (p.Met146_Ala147insVal) c.371_373dup (p.Met124_Ala125insVal) c.83_85dup (p.Met28_Ala29insVal) c.406+675_406+677dup (n.406+675_406+677dup) n.628_630dup | gnomAD v4 |
17 | g.39872302_39872305dup | CA2637649628 | ZPBP2 | c.439_442dup (p.Val148GlyfsTer15) c.373_376dup (p.Val126GlyfsTer15) c.85_88dup (p.Val30GlyfsTer15) c.406+677_406+680dup (n.406+677_406+680dup) n.630_633dup | gnomAD v4 |
17 | g.39872301G>A | CA399279346 | ZPBP2 | c.438G>A (p.Met146Ile) c.372G>A (p.Met124Ile) c.84G>A (p.Met28Ile) c.406+676G>A (n.406+676G>A) n.629G>A | |
17 | g.39872301G>C | CA399279348 | ZPBP2 | c.438G>C (p.Met146Ile) c.372G>C (p.Met124Ile) c.84G>C (p.Met28Ile) c.406+676G>C (n.406+676G>C) n.629G>C | |
17 | g.39872301G>T | CA399279351 | ZPBP2 | c.438G>T (p.Met146Ile) c.372G>T (p.Met124Ile) c.84G>T (p.Met28Ile) c.406+676G>T (n.406+676G>T) n.629G>T | |
17 | g.39872302G>A | CA399279353 | ZPBP2 | c.439G>A (p.Ala147Thr) c.373G>A (p.Ala125Thr) c.85G>A (p.Ala29Thr) c.406+677G>A (n.406+677G>A) n.630G>A | |
17 | g.39872302G>C | CA399279356 | ZPBP2 | c.439G>C (p.Ala147Pro) c.373G>C (p.Ala125Pro) c.85G>C (p.Ala29Pro) c.406+677G>C (n.406+677G>C) n.630G>C | |
17 | g.39872302G>T | CA399279359 | ZPBP2 | c.439G>T (p.Ala147Ser) c.373G>T (p.Ala125Ser) c.85G>T (p.Ala29Ser) c.406+677G>T (n.406+677G>T) n.630G>T | |
17 | g.39872303C>A | CA399279361 | ZPBP2 | c.440C>A (p.Ala147Asp) c.374C>A (p.Ala125Asp) c.86C>A (p.Ala29Asp) c.406+678C>A (n.406+678C>A) n.631C>A | gnomAD v4 |
17 | g.39872303C= | CA2259290852 | ZPBP2 | c.440C= (p.Ala147=) c.374C= (p.Ala125=) c.86C= (p.Ala29=) c.406+678C= (n.406+678C=) n.631C= | |
17 | g.39872303C>G | CA399279363 | ZPBP2 | c.440C>G (p.Ala147Gly) c.374C>G (p.Ala125Gly) c.86C>G (p.Ala29Gly) c.406+678C>G (n.406+678C>G) n.631C>G | |
17 | g.39872303C>T | CA399279365 | ZPBP2 | c.440C>T (p.Ala147Val) c.374C>T (p.Ala125Val) c.86C>T (p.Ala29Val) c.406+678C>T (n.406+678C>T) n.631C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872304T>A | CA499931604 | ZPBP2 | c.441T>A (p.Ala147=) c.375T>A (p.Ala125=) c.87T>A (p.Ala29=) c.406+679T>A (n.406+679T>A) n.632T>A | |
17 | g.39872304T>C | CA499931605 | ZPBP2 | c.441T>C (p.Ala147=) c.375T>C (p.Ala125=) c.87T>C (p.Ala29=) c.406+679T>C (n.406+679T>C) n.632T>C | |
17 | g.39872304T>G | CA499931606 | ZPBP2 | c.441T>G (p.Ala147=) c.375T>G (p.Ala125=) c.87T>G (p.Ala29=) c.406+679T>G (n.406+679T>G) n.632T>G | |
17 | g.39872305G>A | CA399279372 | ZPBP2 | c.442G>A (p.Val148Ile) c.376G>A (p.Val126Ile) c.88G>A (p.Val30Ile) c.406+680G>A (n.406+680G>A) n.633G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872305G>C | CA399279370 | ZPBP2 | c.442G>C (p.Val148Leu) c.376G>C (p.Val126Leu) c.88G>C (p.Val30Leu) c.406+680G>C (n.406+680G>C) n.633G>C | |
17 | g.39872305G= | CA2259290853 | ZPBP2 | c.442G= (p.Val148=) c.376G= (p.Val126=) c.88G= (p.Val30=) c.406+680G= (n.406+680G=) n.633G= | |
17 | g.39872305G>T | CA399279369 | ZPBP2 | c.442G>T (p.Val148Leu) c.376G>T (p.Val126Leu) c.88G>T (p.Val30Leu) c.406+680G>T (n.406+680G>T) n.633G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872306T>A | CA399279376 | ZPBP2 | c.443T>A (p.Val148Glu) c.377T>A (p.Val126Glu) c.89T>A (p.Val30Glu) c.406+681T>A (n.406+681T>A) n.634T>A | |
17 | g.39872306T>C | CA399279378 | ZPBP2 | c.443T>C (p.Val148Ala) c.377T>C (p.Val126Ala) c.89T>C (p.Val30Ala) c.406+681T>C (n.406+681T>C) n.634T>C | |
17 | g.39872306T>G | CA399279380 | ZPBP2 | c.443T>G (p.Val148Gly) c.377T>G (p.Val126Gly) c.89T>G (p.Val30Gly) c.406+681T>G (n.406+681T>G) n.634T>G | |
17 | g.39872307A>C | CA499931607 | ZPBP2 | c.444A>C (p.Val148=) c.378A>C (p.Val126=) c.90A>C (p.Val30=) c.406+682A>C (n.406+682A>C) n.635A>C | |
17 | g.39872307A>G | CA499931609 | ZPBP2 | c.444A>G (p.Val148=) c.378A>G (p.Val126=) c.90A>G (p.Val30=) c.406+682A>G (n.406+682A>G) n.635A>G | |
17 | g.39872307A>T | CA499931608 | ZPBP2 | c.444A>T (p.Val148=) c.378A>T (p.Val126=) c.90A>T (p.Val30=) c.406+682A>T (n.406+682A>T) n.635A>T | |
17 | g.39872308C>A | CA399279383 | ZPBP2 | c.445C>A (p.Arg149Ser) c.379C>A (p.Arg127Ser) c.91C>A (p.Arg31Ser) c.406+683C>A (n.406+683C>A) n.636C>A | |
17 | g.39872308C= | CA2259290854 | ZPBP2 | c.445C= (p.Arg149=) c.379C= (p.Arg127=) c.91C= (p.Arg31=) c.406+683C= (n.406+683C=) n.636C= | |
17 | g.39872308C>G | CA399279384 | ZPBP2 | c.445C>G (p.Arg149Gly) c.379C>G (p.Arg127Gly) c.91C>G (p.Arg31Gly) c.406+683C>G (n.406+683C>G) n.636C>G | |
17 | g.39872308C>T | CA8535961 | ZPBP2 | c.445C>T (p.Arg149Cys) c.379C>T (p.Arg127Cys) c.91C>T (p.Arg31Cys) c.406+683C>T (n.406+683C>T) n.636C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872309G>A | CA8535962 | ZPBP2 | c.446G>A (p.Arg149His) c.380G>A (p.Arg127His) c.92G>A (p.Arg31His) c.406+684G>A (n.406+684G>A) n.637G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872309G>C | CA399279390 | ZPBP2 | c.446G>C (p.Arg149Pro) c.380G>C (p.Arg127Pro) c.92G>C (p.Arg31Pro) c.406+684G>C (n.406+684G>C) n.637G>C | |
17 | g.39872309G= | CA2259290855 | ZPBP2 | c.446G= (p.Arg149=) c.380G= (p.Arg127=) c.92G= (p.Arg31=) c.406+684G= (n.406+684G=) n.637G= | |
17 | g.39872309G>T | CA399279392 | ZPBP2 | c.446G>T (p.Arg149Leu) c.380G>T (p.Arg127Leu) c.92G>T (p.Arg31Leu) c.406+684G>T (n.406+684G>T) n.637G>T | |
17 | g.39872310T>A | CA499931610 | ZPBP2 | c.447T>A (p.Arg149=) c.381T>A (p.Arg127=) c.93T>A (p.Arg31=) c.406+685T>A (n.406+685T>A) n.638T>A | |
17 | g.39872310T>C | CA499931611 | ZPBP2 | c.447T>C (p.Arg149=) c.381T>C (p.Arg127=) c.93T>C (p.Arg31=) c.406+685T>C (n.406+685T>C) n.638T>C | |
17 | g.39872310T>G | CA499931612 | ZPBP2 | c.447T>G (p.Arg149=) c.381T>G (p.Arg127=) c.93T>G (p.Arg31=) c.406+685T>G (n.406+685T>G) n.638T>G | |
17 | g.39872311T>A | CA399279397 | ZPBP2 | c.448T>A (p.Phe150Ile) c.382T>A (p.Phe128Ile) c.94T>A (p.Phe32Ile) c.406+686T>A (n.406+686T>A) n.639T>A | |
17 | g.39872311T>C | CA399279399 | ZPBP2 | c.448T>C (p.Phe150Leu) c.382T>C (p.Phe128Leu) c.94T>C (p.Phe32Leu) c.406+686T>C (n.406+686T>C) n.639T>C | |
17 | g.39872311T>G | CA399279402 | ZPBP2 | c.448T>G (p.Phe150Val) c.382T>G (p.Phe128Val) c.94T>G (p.Phe32Val) c.406+686T>G (n.406+686T>G) n.639T>G | |
17 | g.39872312T>A | CA399279415 | ZPBP2 | c.449T>A (p.Phe150Tyr) c.383T>A (p.Phe128Tyr) c.95T>A (p.Phe32Tyr) c.406+687T>A (n.406+687T>A) n.640T>A | |
17 | g.39872312T>C | CA399279406 | ZPBP2 | c.449T>C (p.Phe150Ser) c.383T>C (p.Phe128Ser) c.95T>C (p.Phe32Ser) c.406+687T>C (n.406+687T>C) n.640T>C | |
17 | g.39872312T>G | CA399279412 | ZPBP2 | c.449T>G (p.Phe150Cys) c.383T>G (p.Phe128Cys) c.95T>G (p.Phe32Cys) c.406+687T>G (n.406+687T>G) n.640T>G | |
17 | g.39872313T>A | CA399279418 | ZPBP2 | c.450T>A (p.Phe150Leu) c.384T>A (p.Phe128Leu) c.96T>A (p.Phe32Leu) c.406+688T>A (n.406+688T>A) n.641T>A | |
17 | g.39872313T>C | CA499931613 | ZPBP2 | c.450T>C (p.Phe150=) c.384T>C (p.Phe128=) c.96T>C (p.Phe32=) c.406+688T>C (n.406+688T>C) n.641T>C | |
17 | g.39872313T>G | CA399279419 | ZPBP2 | c.450T>G (p.Phe150Leu) c.384T>G (p.Phe128Leu) c.96T>G (p.Phe32Leu) c.406+688T>G (n.406+688T>G) n.641T>G | COSMIC |
17 | g.39872313_39872316delinsTACC | CA2259290856 | ZPBP2 | c.450_453delinsTACC (p.Phe150=) c.384_387delinsTACC (p.Phe128=) c.96_99delinsTACC (p.Phe32=) c.406+688_406+691delinsTACC (n.406+688_406+691delinsTACC) n.641_644delinsTACC | |
17 | g.39872314A>C | CA399279422 | ZPBP2 | c.451A>C (p.Thr151Pro) c.385A>C (p.Thr129Pro) c.97A>C (p.Thr33Pro) c.406+689A>C (n.406+689A>C) n.642A>C | |
17 | g.39872314A>G | CA399279423 | ZPBP2 | c.451A>G (p.Thr151Ala) c.385A>G (p.Thr129Ala) c.97A>G (p.Thr33Ala) c.406+689A>G (n.406+689A>G) n.642A>G | |
17 | g.39872314A>T | CA399279425 | ZPBP2 | c.451A>T (p.Thr151Ser) c.385A>T (p.Thr129Ser) c.97A>T (p.Thr33Ser) c.406+689A>T (n.406+689A>T) n.642A>T | |
17 | g.39872316_39872318del | CA625946506 | ZPBP2 | c.453_455del (p.Thr152del) c.387_389del (p.Thr130del) c.99_101del (p.Thr34del) c.406+691_406+693del (n.406+691_406+693del) n.644_646del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872315C>A | CA399279426 | ZPBP2 | c.452C>A (p.Thr151Asn) c.386C>A (p.Thr129Asn) c.98C>A (p.Thr33Asn) c.406+690C>A (n.406+690C>A) n.643C>A | |
17 | g.39872315C>G | CA399279429 | ZPBP2 | c.452C>G (p.Thr151Ser) c.386C>G (p.Thr129Ser) c.98C>G (p.Thr33Ser) c.406+690C>G (n.406+690C>G) n.643C>G | |
17 | g.39872315C>T | CA399279432 | ZPBP2 | c.452C>T (p.Thr151Ile) c.386C>T (p.Thr129Ile) c.98C>T (p.Thr33Ile) c.406+690C>T (n.406+690C>T) n.643C>T | |
17 | g.39872316C>A | CA499931614 | ZPBP2 | c.453C>A (p.Thr151=) c.387C>A (p.Thr129=) c.99C>A (p.Thr33=) c.406+691C>A (n.406+691C>A) n.644C>A | |
17 | g.39872316C>G | CA499931615 | ZPBP2 | c.453C>G (p.Thr151=) c.387C>G (p.Thr129=) c.99C>G (p.Thr33=) c.406+691C>G (n.406+691C>G) n.644C>G | |
17 | g.39872316C>T | CA499931616 | ZPBP2 | c.453C>T (p.Thr151=) c.387C>T (p.Thr129=) c.99C>T (p.Thr33=) c.406+691C>T (n.406+691C>T) n.644C>T | |
17 | g.39872317A>C | CA399279435 | ZPBP2 | c.454A>C (p.Thr152Pro) c.388A>C (p.Thr130Pro) c.100A>C (p.Thr34Pro) c.406+692A>C (n.406+692A>C) n.645A>C | |
17 | g.39872317A>G | CA399279437 | ZPBP2 | c.454A>G (p.Thr152Ala) c.388A>G (p.Thr130Ala) c.100A>G (p.Thr34Ala) c.406+692A>G (n.406+692A>G) n.645A>G | |
17 | g.39872317A>T | CA399279439 | ZPBP2 | c.454A>T (p.Thr152Ser) c.388A>T (p.Thr130Ser) c.100A>T (p.Thr34Ser) c.406+692A>T (n.406+692A>T) n.645A>T | |
17 | g.39872318C>A | CA399279447 | ZPBP2 | c.455C>A (p.Thr152Lys) c.389C>A (p.Thr130Lys) c.101C>A (p.Thr34Lys) c.406+693C>A (n.406+693C>A) n.646C>A | |
17 | g.39872318C= | CA2259290857 | ZPBP2 | c.455C= (p.Thr152=) c.389C= (p.Thr130=) c.101C= (p.Thr34=) c.406+693C= (n.406+693C=) n.646C= | |
17 | g.39872318C>G | CA399279444 | ZPBP2 | c.455C>G (p.Thr152Arg) c.389C>G (p.Thr130Arg) c.101C>G (p.Thr34Arg) c.406+693C>G (n.406+693C>G) n.646C>G | |
17 | g.39872318C>T | CA8535963 | ZPBP2 | c.455C>T (p.Thr152Ile) c.389C>T (p.Thr130Ile) c.101C>T (p.Thr34Ile) c.406+693C>T (n.406+693C>T) n.646C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872319A= | CA2259290858 | ZPBP2 | c.456A= (p.Thr152=) c.390A= (p.Thr130=) c.102A= (p.Thr34=) c.406+694A= (n.406+694A=) n.647A= | |
17 | g.39872319A>C | CA499931617 | ZPBP2 | c.456A>C (p.Thr152=) c.390A>C (p.Thr130=) c.102A>C (p.Thr34=) c.406+694A>C (n.406+694A>C) n.647A>C | |
17 | g.39872319A>G | CA499931618 | ZPBP2 | c.456A>G (p.Thr152=) c.390A>G (p.Thr130=) c.102A>G (p.Thr34=) c.406+694A>G (n.406+694A>G) n.647A>G | dbSNP |
17 | g.39872319A>T | CA499931619 | ZPBP2 | c.456A>T (p.Thr152=) c.390A>T (p.Thr130=) c.102A>T (p.Thr34=) c.406+694A>T (n.406+694A>T) n.647A>T | |
17 | g.39872320A>C | CA499931620 | ZPBP2 | c.457A>C (p.Arg153=) c.391A>C (p.Arg131=) c.103A>C (p.Arg35=) c.406+695A>C (n.406+695A>C) n.648A>C | |
17 | g.39872320A>G | CA399279450 | ZPBP2 | c.457A>G (p.Arg153Gly) c.391A>G (p.Arg131Gly) c.103A>G (p.Arg35Gly) c.406+695A>G (n.406+695A>G) n.648A>G | |
17 | g.39872320A>T | CA399279452 | ZPBP2 | c.457A>T (p.Arg153Trp) c.391A>T (p.Arg131Trp) c.103A>T (p.Arg35Trp) c.406+695A>T (n.406+695A>T) n.648A>T | |
17 | g.39872321G>A | CA399279454 | ZPBP2 | c.458G>A (p.Arg153Lys) c.392G>A (p.Arg131Lys) c.104G>A (p.Arg35Lys) c.406+696G>A (n.406+696G>A) n.649G>A | dbSNP |
17 | g.39872321G>C | CA399279457 | ZPBP2 | c.458G>C (p.Arg153Thr) c.392G>C (p.Arg131Thr) c.104G>C (p.Arg35Thr) c.406+696G>C (n.406+696G>C) n.649G>C | |
17 | g.39872321G>T | CA399279459 | ZPBP2 | c.458G>T (p.Arg153Met) c.392G>T (p.Arg131Met) c.104G>T (p.Arg35Met) c.406+696G>T (n.406+696G>T) n.649G>T | |
17 | g.39872322G>A | CA8535964 | ZPBP2 | c.459G>A (p.Arg153=) c.393G>A (p.Arg131=) c.105G>A (p.Arg35=) c.406+697G>A (n.406+697G>A) n.650G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872322G>C | CA399279465 | ZPBP2 | c.459G>C (p.Arg153Ser) c.393G>C (p.Arg131Ser) c.105G>C (p.Arg35Ser) c.406+697G>C (n.406+697G>C) n.650G>C | gnomAD v4 |
17 | g.39872322G= | CA2259290859 | ZPBP2 | c.459G= (p.Arg153=) c.393G= (p.Arg131=) c.105G= (p.Arg35=) c.406+697G= (n.406+697G=) n.650G= | |
17 | g.39872322G>T | CA399279462 | ZPBP2 | c.459G>T (p.Arg153Ser) c.393G>T (p.Arg131Ser) c.105G>T (p.Arg35Ser) c.406+697G>T (n.406+697G>T) n.650G>T | |
17 | g.39872323T>A | CA399279469 | ZPBP2 | c.460T>A (p.Ser154Thr) c.394T>A (p.Ser132Thr) c.106T>A (p.Ser36Thr) c.406+698T>A (n.406+698T>A) n.651T>A | |
17 | g.39872323T>C | CA399279472 | ZPBP2 | c.460T>C (p.Ser154Pro) c.394T>C (p.Ser132Pro) c.106T>C (p.Ser36Pro) c.406+698T>C (n.406+698T>C) n.651T>C | |
17 | g.39872323T>G | CA399279475 | ZPBP2 | c.460T>G (p.Ser154Ala) c.394T>G (p.Ser132Ala) c.106T>G (p.Ser36Ala) c.406+698T>G (n.406+698T>G) n.651T>G | |
17 | g.39872324C>A | CA399279476 | ZPBP2 | c.461C>A (p.Ser154Tyr) c.395C>A (p.Ser132Tyr) c.107C>A (p.Ser36Tyr) c.406+699C>A (n.406+699C>A) n.652C>A | |
17 | g.39872324C>G | CA399279478 | ZPBP2 | c.461C>G (p.Ser154Cys) c.395C>G (p.Ser132Cys) c.107C>G (p.Ser36Cys) c.406+699C>G (n.406+699C>G) n.652C>G | |
17 | g.39872324C>T | CA399279479 | ZPBP2 | c.461C>T (p.Ser154Phe) c.395C>T (p.Ser132Phe) c.107C>T (p.Ser36Phe) c.406+699C>T (n.406+699C>T) n.652C>T | |
17 | g.39872325T>A | CA499931621 | ZPBP2 | c.462T>A (p.Ser154=) c.396T>A (p.Ser132=) c.108T>A (p.Ser36=) c.406+700T>A (n.406+700T>A) n.653T>A | |
17 | g.39872325T>C | CA290455814 | ZPBP2 | c.462T>C (p.Ser154=) c.396T>C (p.Ser132=) c.108T>C (p.Ser36=) c.406+700T>C (n.406+700T>C) n.653T>C | dbSNP |
17 | g.39872325T>G | CA499931622 | ZPBP2 | c.462T>G (p.Ser154=) c.396T>G (p.Ser132=) c.108T>G (p.Ser36=) c.406+700T>G (n.406+700T>G) n.653T>G | |
17 | g.39872325T= | CA2259290860 | ZPBP2 | c.462T= (p.Ser154=) c.396T= (p.Ser132=) c.108T= (p.Ser36=) c.406+700T= (n.406+700T=) n.653T= | |
17 | g.39872326T>A | CA399279487 | ZPBP2 | c.463T>A (p.Cys155Ser) c.397T>A (p.Cys133Ser) c.109T>A (p.Cys37Ser) c.406+701T>A (n.406+701T>A) n.654T>A | |
17 | g.39872326T>C | CA399279482 | ZPBP2 | c.463T>C (p.Cys155Arg) c.397T>C (p.Cys133Arg) c.109T>C (p.Cys37Arg) c.406+701T>C (n.406+701T>C) n.654T>C | |
17 | g.39872326T>G | CA399279485 | ZPBP2 | c.463T>G (p.Cys155Gly) c.397T>G (p.Cys133Gly) c.109T>G (p.Cys37Gly) c.406+701T>G (n.406+701T>G) n.654T>G | |
17 | g.39872326T= | CA2259290861 | ZPBP2 | c.463T= (p.Cys155=) c.397T= (p.Cys133=) c.109T= (p.Cys37=) c.406+701T= (n.406+701T=) n.654T= | |
17 | g.39872327G>A | CA8535965 | ZPBP2 | c.464G>A (p.Cys155Tyr) c.398G>A (p.Cys133Tyr) c.110G>A (p.Cys37Tyr) c.406+702G>A (n.406+702G>A) n.655G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872327G>C | CA399279491 | ZPBP2 | c.464G>C (p.Cys155Ser) c.398G>C (p.Cys133Ser) c.110G>C (p.Cys37Ser) c.406+702G>C (n.406+702G>C) n.655G>C | |
17 | g.39872327G= | CA2259290862 | ZPBP2 | c.464G= (p.Cys155=) c.398G= (p.Cys133=) c.110G= (p.Cys37=) c.406+702G= (n.406+702G=) n.655G= | |
17 | g.39872327G>T | CA399279494 | ZPBP2 | c.464G>T (p.Cys155Phe) c.398G>T (p.Cys133Phe) c.110G>T (p.Cys37Phe) c.406+702G>T (n.406+702G>T) n.655G>T | |
17 | g.39872327dup | CA625946507 | ZPBP2 | c.464dup (p.Cys155TrpfsTer7) c.398dup (p.Cys133TrpfsTer7) c.110dup (p.Cys37TrpfsTer7) c.406+702dup (n.406+702dup) n.655dup | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872328T>A | CA399279495 | ZPBP2 | c.465T>A (p.Cys155Ter) c.399T>A (p.Cys133Ter) c.111T>A (p.Cys37Ter) c.406+703T>A (n.406+703T>A) n.656T>A | |
17 | g.39872328T>C | CA499931623 | ZPBP2 | c.465T>C (p.Cys155=) c.399T>C (p.Cys133=) c.111T>C (p.Cys37=) c.406+703T>C (n.406+703T>C) n.656T>C | |
17 | g.39872328T>G | CA399279496 | ZPBP2 | c.465T>G (p.Cys155Trp) c.399T>G (p.Cys133Trp) c.111T>G (p.Cys37Trp) c.406+703T>G (n.406+703T>G) n.656T>G | |
17 | g.39872329A>C | CA399279500 | ZPBP2 | c.466A>C (p.Ile156Leu) c.400A>C (p.Ile134Leu) c.112A>C (p.Ile38Leu) c.406+704A>C (n.406+704A>C) n.657A>C | |
17 | g.39872329A>G | CA399279503 | ZPBP2 | c.466A>G (p.Ile156Val) c.400A>G (p.Ile134Val) c.112A>G (p.Ile38Val) c.406+704A>G (n.406+704A>G) n.657A>G | |
17 | g.39872329A>T | CA399279506 | ZPBP2 | c.466A>T (p.Ile156Leu) c.400A>T (p.Ile134Leu) c.112A>T (p.Ile38Leu) c.406+704A>T (n.406+704A>T) n.657A>T | |
17 | g.39872330T>A | CA399279507 | ZPBP2 | c.467T>A (p.Ile156Lys) c.401T>A (p.Ile134Lys) c.113T>A (p.Ile38Lys) c.406+705T>A (n.406+705T>A) n.658T>A | |
17 | g.39872330T>C | CA399279510 | ZPBP2 | c.467T>C (p.Ile156Thr) c.401T>C (p.Ile134Thr) c.113T>C (p.Ile38Thr) c.406+705T>C (n.406+705T>C) n.658T>C | |
17 | g.39872330T>G | CA399279512 | ZPBP2 | c.467T>G (p.Ile156Arg) c.401T>G (p.Ile134Arg) c.113T>G (p.Ile38Arg) c.406+705T>G (n.406+705T>G) n.658T>G | |
17 | g.39872331A>C | CA499931624 | ZPBP2 | c.468A>C (p.Ile156=) c.402A>C (p.Ile134=) c.114A>C (p.Ile38=) c.406+706A>C (n.406+706A>C) n.659A>C | |
17 | g.39872331A>G | CA399279513 | ZPBP2 | c.468A>G (p.Ile156Met) c.402A>G (p.Ile134Met) c.114A>G (p.Ile38Met) c.406+706A>G (n.406+706A>G) n.659A>G | |
17 | g.39872331A>T | CA499931625 | ZPBP2 | c.468A>T (p.Ile156=) c.402A>T (p.Ile134=) c.114A>T (p.Ile38=) c.406+706A>T (n.406+706A>T) n.659A>T | |
17 | g.39872332G>A | CA399279516 | ZPBP2 | c.469G>A (p.Gly157Arg) c.403G>A (p.Gly135Arg) c.115G>A (p.Gly39Arg) c.406+707G>A (n.406+707G>A) n.660G>A | |
17 | g.39872332G>C | CA399279521 | ZPBP2 | c.469G>C (p.Gly157Arg) c.403G>C (p.Gly135Arg) c.115G>C (p.Gly39Arg) c.406+707G>C (n.406+707G>C) n.660G>C | |
17 | g.39872332G>T | CA399279519 | ZPBP2 | c.469G>T (p.Gly157Trp) c.403G>T (p.Gly135Trp) c.115G>T (p.Gly39Trp) c.406+707G>T (n.406+707G>T) n.660G>T | |
17 | g.39872333G>A | CA399279524 | ZPBP2 | c.470G>A (p.Gly157Glu) c.404G>A (p.Gly135Glu) c.116G>A (p.Gly39Glu) c.406+708G>A (n.406+708G>A) n.661G>A | |
17 | g.39872333G>C | CA399279527 | ZPBP2 | c.470G>C (p.Gly157Ala) c.404G>C (p.Gly135Ala) c.116G>C (p.Gly39Ala) c.406+708G>C (n.406+708G>C) n.661G>C | |
17 | g.39872333G>T | CA399279529 | ZPBP2 | c.470G>T (p.Gly157Val) c.404G>T (p.Gly135Val) c.116G>T (p.Gly39Val) c.406+708G>T (n.406+708G>T) n.661G>T | |
17 | g.39872334G>A | CA499931626 | ZPBP2 | c.471G>A (p.Gly157=) c.405G>A (p.Gly135=) c.117G>A (p.Gly39=) c.407-710G>A (n.407-710G>A) n.662G>A | |
17 | g.39872334G>C | CA499931627 | ZPBP2 | c.471G>C (p.Gly157=) c.405G>C (p.Gly135=) c.117G>C (p.Gly39=) c.407-710G>C (n.407-710G>C) n.662G>C | dbSNP |
17 | g.39872334G= | CA2259290863 | ZPBP2 | c.471G= (p.Gly157=) c.405G= (p.Gly135=) c.117G= (p.Gly39=) c.407-710G= (n.407-710G=) n.662G= | |
17 | g.39872334G>T | CA499931628 | ZPBP2 | c.471G>T (p.Gly157=) c.405G>T (p.Gly135=) c.117G>T (p.Gly39=) c.407-710G>T (n.407-710G>T) n.662G>T | |
17 | g.39872335A>C | CA499931629 | ZPBP2 | c.472A>C (p.Arg158=) c.406A>C (p.Arg136=) c.118A>C (p.Arg40=) c.407-709A>C (n.407-709A>C) n.663A>C | |
17 | g.39872335A>G | CA399279532 | ZPBP2 | c.472A>G (p.Arg158Gly) c.406A>G (p.Arg136Gly) c.118A>G (p.Arg40Gly) c.407-709A>G (n.407-709A>G) n.663A>G | gnomAD v3 gnomAD v4 |
17 | g.39872335A>T | CA399279535 | ZPBP2 | c.472A>T (p.Arg158Ter) c.406A>T (p.Arg136Ter) c.118A>T (p.Arg40Ter) c.407-709A>T (n.407-709A>T) n.663A>T | |
17 | g.39872336G>A | CA399279538 | ZPBP2 | c.473G>A (p.Arg158Lys) c.407G>A (p.Arg136Lys) c.119G>A (p.Arg40Lys) c.407-708G>A (n.407-708G>A) n.664G>A | |
17 | g.39872336G>C | CA399279541 | ZPBP2 | c.473G>C (p.Arg158Thr) c.407G>C (p.Arg136Thr) c.119G>C (p.Arg40Thr) c.407-708G>C (n.407-708G>C) n.664G>C | |
17 | g.39872336G>T | CA399279543 | ZPBP2 | c.473G>T (p.Arg158Ile) c.407G>T (p.Arg136Ile) c.119G>T (p.Arg40Ile) c.407-708G>T (n.407-708G>T) n.664G>T | |
17 | g.39872337A>C | CA399279546 | ZPBP2 | c.474A>C (p.Arg158Ser) c.408A>C (p.Arg136Ser) c.120A>C (p.Arg40Ser) c.407-707A>C (n.407-707A>C) n.665A>C | |
17 | g.39872337A>G | CA499931630 | ZPBP2 | c.474A>G (p.Arg158=) c.408A>G (p.Arg136=) c.120A>G (p.Arg40=) c.407-707A>G (n.407-707A>G) n.665A>G | |
17 | g.39872337A>T | CA399279550 | ZPBP2 | c.474A>T (p.Arg158Ser) c.408A>T (p.Arg136Ser) c.120A>T (p.Arg40Ser) c.407-707A>T (n.407-707A>T) n.665A>T | |
17 | g.39872338T>A | CA399279553 | ZPBP2 | c.475T>A (p.Tyr159Asn) c.409T>A (p.Tyr137Asn) c.121T>A (p.Tyr41Asn) c.407-706T>A (n.407-706T>A) n.666T>A | |
17 | g.39872338T>C | CA399279556 | ZPBP2 | c.475T>C (p.Tyr159His) c.409T>C (p.Tyr137His) c.121T>C (p.Tyr41His) c.407-706T>C (n.407-706T>C) n.666T>C | gnomAD v4 |
17 | g.39872338T>G | CA399279558 | ZPBP2 | c.475T>G (p.Tyr159Asp) c.409T>G (p.Tyr137Asp) c.121T>G (p.Tyr41Asp) c.407-706T>G (n.407-706T>G) n.666T>G | |
17 | g.39872339A>C | CA399279559 | ZPBP2 | c.476A>C (p.Tyr159Ser) c.410A>C (p.Tyr137Ser) c.122A>C (p.Tyr41Ser) c.407-705A>C (n.407-705A>C) n.667A>C | gnomAD v4 |
17 | g.39872339A>G | CA399279563 | ZPBP2 | c.476A>G (p.Tyr159Cys) c.410A>G (p.Tyr137Cys) c.122A>G (p.Tyr41Cys) c.407-705A>G (n.407-705A>G) n.667A>G | |
17 | g.39872339A>T | CA399279560 | ZPBP2 | c.476A>T (p.Tyr159Phe) c.410A>T (p.Tyr137Phe) c.122A>T (p.Tyr41Phe) c.407-705A>T (n.407-705A>T) n.667A>T | COSMIC |
17 | g.39872339_39872340delinsAC | CA2259290864 | ZPBP2 | c.476_477delinsAC (p.Tyr159=) c.410_411delinsAC (p.Tyr137=) c.122_123delinsAC (p.Tyr41=) c.407-705_407-704delinsAC (n.407-705_407-704delinsAC) n.667_668delinsAC | |
17 | g.39872340del | CA2259290865 | ZPBP2 | c.477del (p.Tyr159Ter) c.411del (p.Tyr137Ter) c.123del (p.Tyr41Ter) c.407-704del (n.407-704del) n.668del | dbSNP gnomAD v4 |
17 | g.39872340C>A | CA399279565 | ZPBP2 | c.477C>A (p.Tyr159Ter) c.411C>A (p.Tyr137Ter) c.123C>A (p.Tyr41Ter) c.407-704C>A (n.407-704C>A) n.668C>A | gnomAD v4 |
17 | g.39872340C= | CA2259290866 | ZPBP2 | c.477C= (p.Tyr159=) c.411C= (p.Tyr137=) c.123C= (p.Tyr41=) c.407-704C= (n.407-704C=) n.668C= | |
17 | g.39872340C>G | CA399279568 | ZPBP2 | c.477C>G (p.Tyr159Ter) c.411C>G (p.Tyr137Ter) c.123C>G (p.Tyr41Ter) c.407-704C>G (n.407-704C>G) n.668C>G | |
17 | g.39872340C>T | CA499931631 | ZPBP2 | c.477C>T (p.Tyr159=) c.411C>T (p.Tyr137=) c.123C>T (p.Tyr41=) c.407-704C>T (n.407-704C>T) n.668C>T | dbSNP gnomAD v4 |
17 | g.39872341A= | CA2259290867 | ZPBP2 | c.478A= (p.Asn160=) c.412A= (p.Asn138=) c.124A= (p.Asn42=) c.407-703A= (n.407-703A=) n.669A= | |
17 | g.39872341A>C | CA399279570 | ZPBP2 | c.478A>C (p.Asn160His) c.412A>C (p.Asn138His) c.124A>C (p.Asn42His) c.407-703A>C (n.407-703A>C) n.669A>C | |
17 | g.39872341A>G | CA399279573 | ZPBP2 | c.478A>G (p.Asn160Asp) c.412A>G (p.Asn138Asp) c.124A>G (p.Asn42Asp) c.407-703A>G (n.407-703A>G) n.669A>G | dbSNP gnomAD v4 |
17 | g.39872341A>T | CA399279576 | ZPBP2 | c.478A>T (p.Asn160Tyr) c.412A>T (p.Asn138Tyr) c.124A>T (p.Asn42Tyr) c.407-703A>T (n.407-703A>T) n.669A>T | |
17 | g.39872342A>C | CA399279580 | ZPBP2 | c.479A>C (p.Asn160Thr) c.413A>C (p.Asn138Thr) c.125A>C (p.Asn42Thr) c.407-702A>C (n.407-702A>C) n.670A>C | |
17 | g.39872342A>G | CA399279581 | ZPBP2 | c.479A>G (p.Asn160Ser) c.413A>G (p.Asn138Ser) c.125A>G (p.Asn42Ser) c.407-702A>G (n.407-702A>G) n.670A>G | |
17 | g.39872342A>T | CA399279584 | ZPBP2 | c.479A>T (p.Asn160Ile) c.413A>T (p.Asn138Ile) c.125A>T (p.Asn42Ile) c.407-702A>T (n.407-702A>T) n.670A>T | |
17 | g.39872343T>A | CA399279586 | ZPBP2 | c.480T>A (p.Asn160Lys) c.414T>A (p.Asn138Lys) c.126T>A (p.Asn42Lys) c.407-701T>A (n.407-701T>A) n.671T>A | |
17 | g.39872343T>C | CA499931632 | ZPBP2 | c.480T>C (p.Asn160=) c.414T>C (p.Asn138=) c.126T>C (p.Asn42=) c.407-701T>C (n.407-701T>C) n.671T>C | |
17 | g.39872343T>G | CA399279589 | ZPBP2 | c.480T>G (p.Asn160Lys) c.414T>G (p.Asn138Lys) c.126T>G (p.Asn42Lys) c.407-701T>G (n.407-701T>G) n.671T>G | |
17 | g.39872344G>A | CA399279594 | ZPBP2 | c.481G>A (p.Asp161Asn) c.415G>A (p.Asp139Asn) c.127G>A (p.Asp43Asn) c.407-700G>A (n.407-700G>A) n.672G>A | |
17 | g.39872344G>C | CA399279598 | ZPBP2 | c.481G>C (p.Asp161His) c.415G>C (p.Asp139His) c.127G>C (p.Asp43His) c.407-700G>C (n.407-700G>C) n.672G>C | |
17 | g.39872344G>T | CA399279592 | ZPBP2 | c.481G>T (p.Asp161Tyr) c.415G>T (p.Asp139Tyr) c.127G>T (p.Asp43Tyr) c.407-700G>T (n.407-700G>T) n.672G>T |