OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37000970_37000972del | CA2510064682 | NIPBL | c.3575-19_3575-17del (n.3575-19_3575-17del) c.1-63608_1-63606del (n.1-63608_1-63606del) c.2831-19_2831-17del (n.2831-19_2831-17del) c.3377-19_3377-17del (n.3377-19_3377-17del) c.3194-19_3194-17del (n.3194-19_3194-17del) c.2915-19_2915-17del (n.2915-19_2915-17del) c.1958-19_1958-17del (n.1958-19_1958-17del) c.1949-19_1949-17del (n.1949-19_1949-17del) | |
| 5 | g.37000972A= | CA1539601511 | NIPBL | c.3575-17A= (n.3575-17A=) c.1-63606A= (n.1-63606A=) c.2831-17A= (n.2831-17A=) c.3377-17A= (n.3377-17A=) c.3194-17A= (n.3194-17A=) c.2915-17A= (n.2915-17A=) c.1958-17A= (n.1958-17A=) c.1949-17A= (n.1949-17A=) | |
| 5 | g.37000972A>C | CA2581477977 | NIPBL | c.3575-17A>C (n.3575-17A>C) c.1-63606A>C (n.1-63606A>C) c.2831-17A>C (n.2831-17A>C) c.3377-17A>C (n.3377-17A>C) c.3194-17A>C (n.3194-17A>C) c.2915-17A>C (n.2915-17A>C) c.1958-17A>C (n.1958-17A>C) c.1949-17A>C (n.1949-17A>C) | |
| 5 | g.37000972A>G | CA149447 | NIPBL | c.3575-17A>G (n.3575-17A>G) c.1-63606A>G (n.1-63606A>G) c.2831-17A>G (n.2831-17A>G) c.3377-17A>G (n.3377-17A>G) c.3194-17A>G (n.3194-17A>G) c.2915-17A>G (n.2915-17A>G) c.1958-17A>G (n.1958-17A>G) c.1949-17A>G (n.1949-17A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000972A>T | CA2581477976 | NIPBL | c.3575-17A>T (n.3575-17A>T) c.1-63606A>T (n.1-63606A>T) c.2831-17A>T (n.2831-17A>T) c.3377-17A>T (n.3377-17A>T) c.3194-17A>T (n.3194-17A>T) c.2915-17A>T (n.2915-17A>T) c.1958-17A>T (n.1958-17A>T) c.1949-17A>T (n.1949-17A>T) | |
| 5 | g.37000975T>C | CA1539601517 | NIPBL | c.3575-14T>C (n.3575-14T>C) c.1-63603T>C (n.1-63603T>C) c.2831-14T>C (n.2831-14T>C) c.3377-14T>C (n.3377-14T>C) c.3194-14T>C (n.3194-14T>C) c.2915-14T>C (n.2915-14T>C) c.1958-14T>C (n.1958-14T>C) c.1949-14T>C (n.1949-14T>C) | dbSNP |
| 5 | g.37000975T= | CA1539601515 | NIPBL | c.3575-14T= (n.3575-14T=) c.1-63603T= (n.1-63603T=) c.2831-14T= (n.2831-14T=) c.3377-14T= (n.3377-14T=) c.3194-14T= (n.3194-14T=) c.2915-14T= (n.2915-14T=) c.1958-14T= (n.1958-14T=) c.1949-14T= (n.1949-14T=) | |
| 5 | g.37000977T>A | CA2673574913 | NIPBL | c.3575-12T>A (n.3575-12T>A) c.1-63601T>A (n.1-63601T>A) c.2831-12T>A (n.2831-12T>A) c.3377-12T>A (n.3377-12T>A) c.3194-12T>A (n.3194-12T>A) c.2915-12T>A (n.2915-12T>A) c.1958-12T>A (n.1958-12T>A) c.1949-12T>A (n.1949-12T>A) | gnomAD v4 |
| 5 | g.37000978C>A | CA2673574915 | NIPBL | c.3575-11C>A (n.3575-11C>A) c.1-63600C>A (n.1-63600C>A) c.2831-11C>A (n.2831-11C>A) c.3377-11C>A (n.3377-11C>A) c.3194-11C>A (n.3194-11C>A) c.2915-11C>A (n.2915-11C>A) c.1958-11C>A (n.1958-11C>A) c.1949-11C>A (n.1949-11C>A) | gnomAD v4 |
| 5 | g.37000978C= | CA1539601522 | NIPBL | c.3575-11C= (n.3575-11C=) c.1-63600C= (n.1-63600C=) c.2831-11C= (n.2831-11C=) c.3377-11C= (n.3377-11C=) c.3194-11C= (n.3194-11C=) c.2915-11C= (n.2915-11C=) c.1958-11C= (n.1958-11C=) c.1949-11C= (n.1949-11C=) | |
| 5 | g.37000978C>G | CA2673574916 | NIPBL | c.3575-11C>G (n.3575-11C>G) c.1-63600C>G (n.1-63600C>G) c.2831-11C>G (n.2831-11C>G) c.3377-11C>G (n.3377-11C>G) c.3194-11C>G (n.3194-11C>G) c.2915-11C>G (n.2915-11C>G) c.1958-11C>G (n.1958-11C>G) c.1949-11C>G (n.1949-11C>G) | gnomAD v4 |
| 5 | g.37000978C>T | CA117056531 | NIPBL | c.3575-11C>T (n.3575-11C>T) c.1-63600C>T (n.1-63600C>T) c.2831-11C>T (n.2831-11C>T) c.3377-11C>T (n.3377-11C>T) c.3194-11C>T (n.3194-11C>T) c.2915-11C>T (n.2915-11C>T) c.1958-11C>T (n.1958-11C>T) c.1949-11C>T (n.1949-11C>T) | dbSNP gnomAD v2 |
| 5 | g.37000978_37000979insCT | CA2516421447 | NIPBL | c.3575-11_3575-10insCT (n.3575-11_3575-10insCT) c.1-63600_1-63599insCT (n.1-63600_1-63599insCT) c.2831-11_2831-10insCT (n.2831-11_2831-10insCT) c.3377-11_3377-10insCT (n.3377-11_3377-10insCT) c.3194-11_3194-10insCT (n.3194-11_3194-10insCT) c.2915-11_2915-10insCT (n.2915-11_2915-10insCT) c.1958-11_1958-10insCT (n.1958-11_1958-10insCT) c.1949-11_1949-10insCT (n.1949-11_1949-10insCT) | |
| 5 | g.37000979T>C | CA3236386 | NIPBL | c.3575-10T>C (n.3575-10T>C) c.1-63599T>C (n.1-63599T>C) c.2831-10T>C (n.2831-10T>C) c.3377-10T>C (n.3377-10T>C) c.3194-10T>C (n.3194-10T>C) c.2915-10T>C (n.2915-10T>C) c.1958-10T>C (n.1958-10T>C) c.1949-10T>C (n.1949-10T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37000979T= | CA1539601528 | NIPBL | c.3575-10T= (n.3575-10T=) c.1-63599T= (n.1-63599T=) c.2831-10T= (n.2831-10T=) c.3377-10T= (n.3377-10T=) c.3194-10T= (n.3194-10T=) c.2915-10T= (n.2915-10T=) c.1958-10T= (n.1958-10T=) c.1949-10T= (n.1949-10T=) | |
| 5 | g.37000980C= | CA1539601534 | NIPBL | c.3575-9C= (n.3575-9C=) c.1-63598C= (n.1-63598C=) c.2831-9C= (n.2831-9C=) c.3377-9C= (n.3377-9C=) c.3194-9C= (n.3194-9C=) c.2915-9C= (n.2915-9C=) c.1958-9C= (n.1958-9C=) c.1949-9C= (n.1949-9C=) | |
| 5 | g.37000980C>G | CA3236387 | NIPBL | c.3575-9C>G (n.3575-9C>G) c.1-63598C>G (n.1-63598C>G) c.2831-9C>G (n.2831-9C>G) c.3377-9C>G (n.3377-9C>G) c.3194-9C>G (n.3194-9C>G) c.2915-9C>G (n.2915-9C>G) c.1958-9C>G (n.1958-9C>G) c.1949-9C>G (n.1949-9C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000980C>T | CA2580073210 | NIPBL | c.3575-9C>T (n.3575-9C>T) c.1-63598C>T (n.1-63598C>T) c.2831-9C>T (n.2831-9C>T) c.3377-9C>T (n.3377-9C>T) c.3194-9C>T (n.3194-9C>T) c.2915-9C>T (n.2915-9C>T) c.1958-9C>T (n.1958-9C>T) c.1949-9C>T (n.1949-9C>T) | ClinVar gnomAD v4 |
| 5 | g.37000982C= | CA1539601541 | NIPBL | c.3575-7C= (n.3575-7C=) c.1-63596C= (n.1-63596C=) c.2831-7C= (n.2831-7C=) c.3377-7C= (n.3377-7C=) c.3194-7C= (n.3194-7C=) c.2915-7C= (n.2915-7C=) c.1958-7C= (n.1958-7C=) c.1949-7C= (n.1949-7C=) | |
| 5 | g.37000982C>T | CA559295144 | NIPBL | c.3575-7C>T (n.3575-7C>T) c.1-63596C>T (n.1-63596C>T) c.2831-7C>T (n.2831-7C>T) c.3377-7C>T (n.3377-7C>T) c.3194-7C>T (n.3194-7C>T) c.2915-7C>T (n.2915-7C>T) c.1958-7C>T (n.1958-7C>T) c.1949-7C>T (n.1949-7C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000983_37000984del | CA2673574922 | NIPBL | c.3575-6_3575-5del (n.3575-6_3575-5del) c.1-63595_1-63594del (n.1-63595_1-63594del) c.2831-6_2831-5del (n.2831-6_2831-5del) c.3377-6_3377-5del (n.3377-6_3377-5del) c.3194-6_3194-5del (n.3194-6_3194-5del) c.2915-6_2915-5del (n.2915-6_2915-5del) c.1958-6_1958-5del (n.1958-6_1958-5del) c.1949-6_1949-5del (n.1949-6_1949-5del) | gnomAD v4 |
| 5 | g.37000985del | CA2540160877 | NIPBL | c.3575-4del (n.3575-4del) c.1-63593del (n.1-63593del) c.2831-4del (n.2831-4del) c.3377-4del (n.3377-4del) c.3194-4del (n.3194-4del) c.2915-4del (n.2915-4del) c.1958-4del (n.1958-4del) c.1949-4del (n.1949-4del) | |
| 5 | g.37000986C>A | CA2673574927 | NIPBL | c.3575-3C>A (n.3575-3C>A) c.1-63592C>A (n.1-63592C>A) c.2831-3C>A (n.2831-3C>A) c.3377-3C>A (n.3377-3C>A) c.3194-3C>A (n.3194-3C>A) c.2915-3C>A (n.2915-3C>A) c.1958-3C>A (n.1958-3C>A) c.1949-3C>A (n.1949-3C>A) | gnomAD v4 |
| 5 | g.37000986C= | CA1539601548 | NIPBL | c.3575-3C= (n.3575-3C=) c.1-63592C= (n.1-63592C=) c.2831-3C= (n.2831-3C=) c.3377-3C= (n.3377-3C=) c.3194-3C= (n.3194-3C=) c.2915-3C= (n.2915-3C=) c.1958-3C= (n.1958-3C=) c.1949-3C= (n.1949-3C=) | |
| 5 | g.37000986C>G | CA272071 | NIPBL | c.3575-3C>G (n.3575-3C>G) c.1-63592C>G (n.1-63592C>G) c.2831-3C>G (n.2831-3C>G) c.3377-3C>G (n.3377-3C>G) c.3194-3C>G (n.3194-3C>G) c.2915-3C>G (n.2915-3C>G) c.1958-3C>G (n.1958-3C>G) c.1949-3C>G (n.1949-3C>G) | ClinVar dbSNP |
| 5 | g.37000986C>T | CA559295146 | NIPBL | c.3575-3C>T (n.3575-3C>T) c.1-63592C>T (n.1-63592C>T) c.2831-3C>T (n.2831-3C>T) c.3377-3C>T (n.3377-3C>T) c.3194-3C>T (n.3194-3C>T) c.2915-3C>T (n.2915-3C>T) c.1958-3C>T (n.1958-3C>T) c.1949-3C>T (n.1949-3C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000986_37000987insG | CA2739274692 | NIPBL | c.3575-3_3575-2insG (n.3575-3_3575-2insG) c.1-63592_1-63591insG (n.1-63592_1-63591insG) c.2831-3_2831-2insG (n.2831-3_2831-2insG) c.3377-3_3377-2insG (n.3377-3_3377-2insG) c.3194-3_3194-2insG (n.3194-3_3194-2insG) c.2915-3_2915-2insG (n.2915-3_2915-2insG) c.1958-3_1958-2insG (n.1958-3_1958-2insG) c.1949-3_1949-2insG (n.1949-3_1949-2insG) | ClinVar |
| 5 | g.37000987A>C | CA359518601 | NIPBL | c.3575-2A>C (n.3575-2A>C) c.1-63591A>C (n.1-63591A>C) c.2831-2A>C (n.2831-2A>C) c.3377-2A>C (n.3377-2A>C) c.3194-2A>C (n.3194-2A>C) c.2915-2A>C (n.2915-2A>C) c.1958-2A>C (n.1958-2A>C) c.1949-2A>C (n.1949-2A>C) | |
| 5 | g.37000987A>G | CA359518603 | NIPBL | c.3575-2A>G (n.3575-2A>G) c.1-63591A>G (n.1-63591A>G) c.2831-2A>G (n.2831-2A>G) c.3377-2A>G (n.3377-2A>G) c.3194-2A>G (n.3194-2A>G) c.2915-2A>G (n.2915-2A>G) c.1958-2A>G (n.1958-2A>G) c.1949-2A>G (n.1949-2A>G) | ClinVar |
| 5 | g.37000987A>T | CA359518606 | NIPBL | c.3575-2A>T (n.3575-2A>T) c.1-63591A>T (n.1-63591A>T) c.2831-2A>T (n.2831-2A>T) c.3377-2A>T (n.3377-2A>T) c.3194-2A>T (n.3194-2A>T) c.2915-2A>T (n.2915-2A>T) c.1958-2A>T (n.1958-2A>T) c.1949-2A>T (n.1949-2A>T) | |
| 5 | g.37000988G>A | CA359518609 | NIPBL | c.3575-1G>A (n.3575-1G>A) c.1-63590G>A (n.1-63590G>A) c.2831-1G>A (n.2831-1G>A) c.3377-1G>A (n.3377-1G>A) c.3194-1G>A (n.3194-1G>A) c.2915-1G>A (n.2915-1G>A) c.1958-1G>A (n.1958-1G>A) c.1949-1G>A (n.1949-1G>A) | |
| 5 | g.37000988G>C | CA359518610 | NIPBL | c.3575-1G>C (n.3575-1G>C) c.1-63590G>C (n.1-63590G>C) c.2831-1G>C (n.2831-1G>C) c.3377-1G>C (n.3377-1G>C) c.3194-1G>C (n.3194-1G>C) c.2915-1G>C (n.2915-1G>C) c.1958-1G>C (n.1958-1G>C) c.1949-1G>C (n.1949-1G>C) | |
| 5 | g.37000988G>T | CA359518611 | NIPBL | c.3575-1G>T (n.3575-1G>T) c.1-63590G>T (n.1-63590G>T) c.2831-1G>T (n.2831-1G>T) c.3377-1G>T (n.3377-1G>T) c.3194-1G>T (n.3194-1G>T) c.2915-1G>T (n.2915-1G>T) c.1958-1G>T (n.1958-1G>T) c.1949-1G>T (n.1949-1G>T) | |
| 5 | g.37000989A>C | CA359518619 | NIPBL | c.3575A>C (p.Glu1192Ala) c.1-63589A>C (n.1-63589A>C) c.2831A>C (p.Glu944Ala) c.3377A>C (p.Glu1126Ala) c.3194A>C (p.Glu1065Ala) c.2915A>C (p.Glu972Ala) c.1958A>C (p.Glu653Ala) c.1949A>C (p.Glu650Ala) | |
| 5 | g.37000989A>G | CA359518613 | NIPBL | c.3575A>G (p.Glu1192Gly) c.1-63589A>G (n.1-63589A>G) c.2831A>G (p.Glu944Gly) c.3377A>G (p.Glu1126Gly) c.3194A>G (p.Glu1065Gly) c.2915A>G (p.Glu972Gly) c.1958A>G (p.Glu653Gly) c.1949A>G (p.Glu650Gly) | |
| 5 | g.37000989A>T | CA359518617 | NIPBL | c.3575A>T (p.Glu1192Val) c.1-63589A>T (n.1-63589A>T) c.2831A>T (p.Glu944Val) c.3377A>T (p.Glu1126Val) c.3194A>T (p.Glu1065Val) c.2915A>T (p.Glu972Val) c.1958A>T (p.Glu653Val) c.1949A>T (p.Glu650Val) | |
| 5 | g.37000990A>C | CA359518623 | NIPBL | c.3576A>C (p.Glu1192Asp) c.1-63588A>C (n.1-63588A>C) c.2832A>C (p.Glu944Asp) c.3378A>C (p.Glu1126Asp) c.3195A>C (p.Glu1065Asp) c.2916A>C (p.Glu972Asp) c.1959A>C (p.Glu653Asp) c.1950A>C (p.Glu650Asp) | |
| 5 | g.37000990A>G | CA443904547 | NIPBL | c.3576A>G (p.Glu1192=) c.1-63588A>G (n.1-63588A>G) c.2832A>G (p.Glu944=) c.3378A>G (p.Glu1126=) c.3195A>G (p.Glu1065=) c.2916A>G (p.Glu972=) c.1959A>G (p.Glu653=) c.1950A>G (p.Glu650=) | gnomAD v4 |
| 5 | g.37000990A>T | CA359518628 | NIPBL | c.3576A>T (p.Glu1192Asp) c.1-63588A>T (n.1-63588A>T) c.2832A>T (p.Glu944Asp) c.3378A>T (p.Glu1126Asp) c.3195A>T (p.Glu1065Asp) c.2916A>T (p.Glu972Asp) c.1959A>T (p.Glu653Asp) c.1950A>T (p.Glu650Asp) | |
| 5 | g.37000991A>C | CA359518641 | NIPBL | c.3577A>C (p.Met1193Leu) c.1-63587A>C (n.1-63587A>C) c.2833A>C (p.Met945Leu) c.3379A>C (p.Met1127Leu) c.3196A>C (p.Met1066Leu) c.2917A>C (p.Met973Leu) c.1960A>C (p.Met654Leu) c.1951A>C (p.Met651Leu) | |
| 5 | g.37000991A>G | CA359518644 | NIPBL | c.3577A>G (p.Met1193Val) c.1-63587A>G (n.1-63587A>G) c.2833A>G (p.Met945Val) c.3379A>G (p.Met1127Val) c.3196A>G (p.Met1066Val) c.2917A>G (p.Met973Val) c.1960A>G (p.Met654Val) c.1951A>G (p.Met651Val) | |
| 5 | g.37000991A>T | CA359518647 | NIPBL | c.3577A>T (p.Met1193Leu) c.1-63587A>T (n.1-63587A>T) c.2833A>T (p.Met945Leu) c.3379A>T (p.Met1127Leu) c.3196A>T (p.Met1066Leu) c.2917A>T (p.Met973Leu) c.1960A>T (p.Met654Leu) c.1951A>T (p.Met651Leu) | |
| 5 | g.37000992T>A | CA359518660 | NIPBL | c.3578T>A (p.Met1193Lys) c.1-63586T>A (n.1-63586T>A) c.2834T>A (p.Met945Lys) c.3380T>A (p.Met1127Lys) c.3197T>A (p.Met1066Lys) c.2918T>A (p.Met973Lys) c.1961T>A (p.Met654Lys) c.1952T>A (p.Met651Lys) | |
| 5 | g.37000992T>C | CA359518657 | NIPBL | c.3578T>C (p.Met1193Thr) c.1-63586T>C (n.1-63586T>C) c.2834T>C (p.Met945Thr) c.3380T>C (p.Met1127Thr) c.3197T>C (p.Met1066Thr) c.2918T>C (p.Met973Thr) c.1961T>C (p.Met654Thr) c.1952T>C (p.Met651Thr) | |
| 5 | g.37000992T>G | CA359518659 | NIPBL | c.3578T>G (p.Met1193Arg) c.1-63586T>G (n.1-63586T>G) c.2834T>G (p.Met945Arg) c.3380T>G (p.Met1127Arg) c.3197T>G (p.Met1066Arg) c.2918T>G (p.Met973Arg) c.1961T>G (p.Met654Arg) c.1952T>G (p.Met651Arg) | |
| 5 | g.37000993G>A | CA359518661 | NIPBL | c.3579G>A (p.Met1193Ile) c.1-63585G>A (n.1-63585G>A) c.2835G>A (p.Met945Ile) c.3381G>A (p.Met1127Ile) c.3198G>A (p.Met1066Ile) c.2919G>A (p.Met973Ile) c.1962G>A (p.Met654Ile) c.1953G>A (p.Met651Ile) | dbSNP |
| 5 | g.37000993G>C | CA359518662 | NIPBL | c.3579G>C (p.Met1193Ile) c.1-63585G>C (n.1-63585G>C) c.2835G>C (p.Met945Ile) c.3381G>C (p.Met1127Ile) c.3198G>C (p.Met1066Ile) c.2919G>C (p.Met973Ile) c.1962G>C (p.Met654Ile) c.1953G>C (p.Met651Ile) | |
| 5 | g.37000993G= | CA1539601553 | NIPBL | c.3579G= (p.Met1193=) c.1-63585G= (n.1-63585G=) c.2835G= (p.Met945=) c.3381G= (p.Met1127=) c.3198G= (p.Met1066=) c.2919G= (p.Met973=) c.1962G= (p.Met654=) c.1953G= (p.Met651=) | |
| 5 | g.37000993G>T | CA359518664 | NIPBL | c.3579G>T (p.Met1193Ile) c.1-63585G>T (n.1-63585G>T) c.2835G>T (p.Met945Ile) c.3381G>T (p.Met1127Ile) c.3198G>T (p.Met1066Ile) c.2919G>T (p.Met973Ile) c.1962G>T (p.Met654Ile) c.1953G>T (p.Met651Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37000994A>C | CA359518668 | NIPBL | c.3580A>C (p.Met1194Leu) c.1-63584A>C (n.1-63584A>C) c.2836A>C (p.Met946Leu) c.3382A>C (p.Met1128Leu) c.3199A>C (p.Met1067Leu) c.2920A>C (p.Met974Leu) c.1963A>C (p.Met655Leu) c.1954A>C (p.Met652Leu) | |
| 5 | g.37000994A>G | CA359518671 | NIPBL | c.3580A>G (p.Met1194Val) c.1-63584A>G (n.1-63584A>G) c.2836A>G (p.Met946Val) c.3382A>G (p.Met1128Val) c.3199A>G (p.Met1067Val) c.2920A>G (p.Met974Val) c.1963A>G (p.Met655Val) c.1954A>G (p.Met652Val) | gnomAD v4 |
| 5 | g.37000994A>T | CA359518676 | NIPBL | c.3580A>T (p.Met1194Leu) c.1-63584A>T (n.1-63584A>T) c.2836A>T (p.Met946Leu) c.3382A>T (p.Met1128Leu) c.3199A>T (p.Met1067Leu) c.2920A>T (p.Met974Leu) c.1963A>T (p.Met655Leu) c.1954A>T (p.Met652Leu) | |
| 5 | g.37000995T>A | CA359518680 | NIPBL | c.3581T>A (p.Met1194Lys) c.1-63583T>A (n.1-63583T>A) c.2837T>A (p.Met946Lys) c.3383T>A (p.Met1128Lys) c.3200T>A (p.Met1067Lys) c.2921T>A (p.Met974Lys) c.1964T>A (p.Met655Lys) c.1955T>A (p.Met652Lys) | |
| 5 | g.37000995T>C | CA359518683 | NIPBL | c.3581T>C (p.Met1194Thr) c.1-63583T>C (n.1-63583T>C) c.2837T>C (p.Met946Thr) c.3383T>C (p.Met1128Thr) c.3200T>C (p.Met1067Thr) c.2921T>C (p.Met974Thr) c.1964T>C (p.Met655Thr) c.1955T>C (p.Met652Thr) | |
| 5 | g.37000995T>G | CA359518685 | NIPBL | c.3581T>G (p.Met1194Arg) c.1-63583T>G (n.1-63583T>G) c.2837T>G (p.Met946Arg) c.3383T>G (p.Met1128Arg) c.3200T>G (p.Met1067Arg) c.2921T>G (p.Met974Arg) c.1964T>G (p.Met655Arg) c.1955T>G (p.Met652Arg) | |
| 5 | g.37000996G>A | CA359518692 | NIPBL | c.3582G>A (p.Met1194Ile) c.1-63582G>A (n.1-63582G>A) c.2838G>A (p.Met946Ile) c.3384G>A (p.Met1128Ile) c.3201G>A (p.Met1067Ile) c.2922G>A (p.Met974Ile) c.1965G>A (p.Met655Ile) c.1956G>A (p.Met652Ile) | gnomAD v4 |
| 5 | g.37000996G>C | CA359518695 | NIPBL | c.3582G>C (p.Met1194Ile) c.1-63582G>C (n.1-63582G>C) c.2838G>C (p.Met946Ile) c.3384G>C (p.Met1128Ile) c.3201G>C (p.Met1067Ile) c.2922G>C (p.Met974Ile) c.1965G>C (p.Met655Ile) c.1956G>C (p.Met652Ile) | |
| 5 | g.37000996G>T | CA359518698 | NIPBL | c.3582G>T (p.Met1194Ile) c.1-63582G>T (n.1-63582G>T) c.2838G>T (p.Met946Ile) c.3384G>T (p.Met1128Ile) c.3201G>T (p.Met1067Ile) c.2922G>T (p.Met974Ile) c.1965G>T (p.Met655Ile) c.1956G>T (p.Met652Ile) | |
| 5 | g.37000997G>A | CA3236389 | NIPBL | c.3583G>A (p.Asp1195Asn) c.1-63581G>A (n.1-63581G>A) c.2839G>A (p.Asp947Asn) c.3385G>A (p.Asp1129Asn) c.3202G>A (p.Asp1068Asn) c.2923G>A (p.Asp975Asn) c.1966G>A (p.Asp656Asn) c.1957G>A (p.Asp653Asn) | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.37000997G>C | CA359518701 | NIPBL | c.3583G>C (p.Asp1195His) c.1-63581G>C (n.1-63581G>C) c.2839G>C (p.Asp947His) c.3385G>C (p.Asp1129His) c.3202G>C (p.Asp1068His) c.2923G>C (p.Asp975His) c.1966G>C (p.Asp656His) c.1957G>C (p.Asp653His) | |
| 5 | g.37000997G= | CA1539601561 | NIPBL | c.3583G= (p.Asp1195=) c.1-63581G= (n.1-63581G=) c.2839G= (p.Asp947=) c.3385G= (p.Asp1129=) c.3202G= (p.Asp1068=) c.2923G= (p.Asp975=) c.1966G= (p.Asp656=) c.1957G= (p.Asp653=) | |
| 5 | g.37000997G>T | CA3236388 | NIPBL | c.3583G>T (p.Asp1195Tyr) c.1-63581G>T (n.1-63581G>T) c.2839G>T (p.Asp947Tyr) c.3385G>T (p.Asp1129Tyr) c.3202G>T (p.Asp1068Tyr) c.2923G>T (p.Asp975Tyr) c.1966G>T (p.Asp656Tyr) c.1957G>T (p.Asp653Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37000998A>C | CA359518704 | NIPBL | c.3584A>C (p.Asp1195Ala) c.1-63580A>C (n.1-63580A>C) c.2840A>C (p.Asp947Ala) c.3386A>C (p.Asp1129Ala) c.3203A>C (p.Asp1068Ala) c.2924A>C (p.Asp975Ala) c.1967A>C (p.Asp656Ala) c.1958A>C (p.Asp653Ala) | |
| 5 | g.37000998A>G | CA359518707 | NIPBL | c.3584A>G (p.Asp1195Gly) c.1-63580A>G (n.1-63580A>G) c.2840A>G (p.Asp947Gly) c.3386A>G (p.Asp1129Gly) c.3203A>G (p.Asp1068Gly) c.2924A>G (p.Asp975Gly) c.1967A>G (p.Asp656Gly) c.1958A>G (p.Asp653Gly) | |
| 5 | g.37000998A>T | CA359518710 | NIPBL | c.3584A>T (p.Asp1195Val) c.1-63580A>T (n.1-63580A>T) c.2840A>T (p.Asp947Val) c.3386A>T (p.Asp1129Val) c.3203A>T (p.Asp1068Val) c.2924A>T (p.Asp975Val) c.1967A>T (p.Asp656Val) c.1958A>T (p.Asp653Val) | |
| 5 | g.37000999C>A | CA359518715 | NIPBL | c.3585C>A (p.Asp1195Glu) c.1-63579C>A (n.1-63579C>A) c.2841C>A (p.Asp947Glu) c.3387C>A (p.Asp1129Glu) c.3204C>A (p.Asp1068Glu) c.2925C>A (p.Asp975Glu) c.1968C>A (p.Asp656Glu) c.1959C>A (p.Asp653Glu) | |
| 5 | g.37000999C>G | CA359518718 | NIPBL | c.3585C>G (p.Asp1195Glu) c.1-63579C>G (n.1-63579C>G) c.2841C>G (p.Asp947Glu) c.3387C>G (p.Asp1129Glu) c.3204C>G (p.Asp1068Glu) c.2925C>G (p.Asp975Glu) c.1968C>G (p.Asp656Glu) c.1959C>G (p.Asp653Glu) | |
| 5 | g.37000999C>T | CA443904548 | NIPBL | c.3585C>T (p.Asp1195=) c.1-63579C>T (n.1-63579C>T) c.2841C>T (p.Asp947=) c.3387C>T (p.Asp1129=) c.3204C>T (p.Asp1068=) c.2925C>T (p.Asp975=) c.1968C>T (p.Asp656=) c.1959C>T (p.Asp653=) | gnomAD v4 COSMIC COSMIC |
| 5 | g.37001000T>A | CA359518723 | NIPBL | c.3586T>A (p.Ser1196Thr) c.1-63578T>A (n.1-63578T>A) c.2842T>A (p.Ser948Thr) c.3388T>A (p.Ser1130Thr) c.3205T>A (p.Ser1069Thr) c.2926T>A (p.Ser976Thr) c.1969T>A (p.Ser657Thr) c.1960T>A (p.Ser654Thr) | |
| 5 | g.37001000T>C | CA359518726 | NIPBL | c.3586T>C (p.Ser1196Pro) c.1-63578T>C (n.1-63578T>C) c.2842T>C (p.Ser948Pro) c.3388T>C (p.Ser1130Pro) c.3205T>C (p.Ser1069Pro) c.2926T>C (p.Ser976Pro) c.1969T>C (p.Ser657Pro) c.1960T>C (p.Ser654Pro) | |
| 5 | g.37001000T>G | CA359518728 | NIPBL | c.3586T>G (p.Ser1196Ala) c.1-63578T>G (n.1-63578T>G) c.2842T>G (p.Ser948Ala) c.3388T>G (p.Ser1130Ala) c.3205T>G (p.Ser1069Ala) c.2926T>G (p.Ser976Ala) c.1969T>G (p.Ser657Ala) c.1960T>G (p.Ser654Ala) | |
| 5 | g.37001001C>A | CA359518731 | NIPBL | c.3587C>A (p.Ser1196Tyr) c.1-63577C>A (n.1-63577C>A) c.2843C>A (p.Ser948Tyr) c.3389C>A (p.Ser1130Tyr) c.3206C>A (p.Ser1069Tyr) c.2927C>A (p.Ser976Tyr) c.1970C>A (p.Ser657Tyr) c.1961C>A (p.Ser654Tyr) | |
| 5 | g.37001001C>G | CA359518734 | NIPBL | c.3587C>G (p.Ser1196Cys) c.1-63577C>G (n.1-63577C>G) c.2843C>G (p.Ser948Cys) c.3389C>G (p.Ser1130Cys) c.3206C>G (p.Ser1069Cys) c.2927C>G (p.Ser976Cys) c.1970C>G (p.Ser657Cys) c.1961C>G (p.Ser654Cys) | |
| 5 | g.37001001C>T | CA359518740 | NIPBL | c.3587C>T (p.Ser1196Phe) c.1-63577C>T (n.1-63577C>T) c.2843C>T (p.Ser948Phe) c.3389C>T (p.Ser1130Phe) c.3206C>T (p.Ser1069Phe) c.2927C>T (p.Ser976Phe) c.1970C>T (p.Ser657Phe) c.1961C>T (p.Ser654Phe) | |
| 5 | g.37001002T>A | CA443904549 | NIPBL | c.3588T>A (p.Ser1196=) c.1-63576T>A (n.1-63576T>A) c.2844T>A (p.Ser948=) c.3390T>A (p.Ser1130=) c.3207T>A (p.Ser1069=) c.2928T>A (p.Ser976=) c.1971T>A (p.Ser657=) c.1962T>A (p.Ser654=) | |
| 5 | g.37001002T>C | CA443904550 | NIPBL | c.3588T>C (p.Ser1196=) c.1-63576T>C (n.1-63576T>C) c.2844T>C (p.Ser948=) c.3390T>C (p.Ser1130=) c.3207T>C (p.Ser1069=) c.2928T>C (p.Ser976=) c.1971T>C (p.Ser657=) c.1962T>C (p.Ser654=) | |
| 5 | g.37001002T>G | CA443904551 | NIPBL | c.3588T>G (p.Ser1196=) c.1-63576T>G (n.1-63576T>G) c.2844T>G (p.Ser948=) c.3390T>G (p.Ser1130=) c.3207T>G (p.Ser1069=) c.2928T>G (p.Ser976=) c.1971T>G (p.Ser657=) c.1962T>G (p.Ser654=) | |
| 5 | g.37001003T>A | CA359518755 | NIPBL | c.3589T>A (p.Ser1197Thr) c.1-63575T>A (n.1-63575T>A) c.2845T>A (p.Ser949Thr) c.3391T>A (p.Ser1131Thr) c.3208T>A (p.Ser1070Thr) c.2929T>A (p.Ser977Thr) c.1972T>A (p.Ser658Thr) c.1963T>A (p.Ser655Thr) | |
| 5 | g.37001003T>C | CA359518753 | NIPBL | c.3589T>C (p.Ser1197Pro) c.1-63575T>C (n.1-63575T>C) c.2845T>C (p.Ser949Pro) c.3391T>C (p.Ser1131Pro) c.3208T>C (p.Ser1070Pro) c.2929T>C (p.Ser977Pro) c.1972T>C (p.Ser658Pro) c.1963T>C (p.Ser655Pro) | |
| 5 | g.37001003T>G | CA359518752 | NIPBL | c.3589T>G (p.Ser1197Ala) c.1-63575T>G (n.1-63575T>G) c.2845T>G (p.Ser949Ala) c.3391T>G (p.Ser1131Ala) c.3208T>G (p.Ser1070Ala) c.2929T>G (p.Ser977Ala) c.1972T>G (p.Ser658Ala) c.1963T>G (p.Ser655Ala) | |
| 5 | g.37001004C>A | CA359518758 | NIPBL | c.3590C>A (p.Ser1197Ter) c.1-63574C>A (n.1-63574C>A) c.2846C>A (p.Ser949Ter) c.3392C>A (p.Ser1131Ter) c.3209C>A (p.Ser1070Ter) c.2930C>A (p.Ser977Ter) c.1973C>A (p.Ser658Ter) c.1964C>A (p.Ser655Ter) | |
| 5 | g.37001004C>G | CA359518759 | NIPBL | c.3590C>G (p.Ser1197Ter) c.1-63574C>G (n.1-63574C>G) c.2846C>G (p.Ser949Ter) c.3392C>G (p.Ser1131Ter) c.3209C>G (p.Ser1070Ter) c.2930C>G (p.Ser977Ter) c.1973C>G (p.Ser658Ter) c.1964C>G (p.Ser655Ter) | |
| 5 | g.37001004C>T | CA359518760 | NIPBL | c.3590C>T (p.Ser1197Leu) c.1-63574C>T (n.1-63574C>T) c.2846C>T (p.Ser949Leu) c.3392C>T (p.Ser1131Leu) c.3209C>T (p.Ser1070Leu) c.2930C>T (p.Ser977Leu) c.1973C>T (p.Ser658Leu) c.1964C>T (p.Ser655Leu) | |
| 5 | g.37001005A>C | CA443904552 | NIPBL | c.3591A>C (p.Ser1197=) c.1-63573A>C (n.1-63573A>C) c.2847A>C (p.Ser949=) c.3393A>C (p.Ser1131=) c.3210A>C (p.Ser1070=) c.2931A>C (p.Ser977=) c.1974A>C (p.Ser658=) c.1965A>C (p.Ser655=) | |
| 5 | g.37001005A>G | CA443904553 | NIPBL | c.3591A>G (p.Ser1197=) c.1-63573A>G (n.1-63573A>G) c.2847A>G (p.Ser949=) c.3393A>G (p.Ser1131=) c.3210A>G (p.Ser1070=) c.2931A>G (p.Ser977=) c.1974A>G (p.Ser658=) c.1965A>G (p.Ser655=) | |
| 5 | g.37001005A>T | CA443904554 | NIPBL | c.3591A>T (p.Ser1197=) c.1-63573A>T (n.1-63573A>T) c.2847A>T (p.Ser949=) c.3393A>T (p.Ser1131=) c.3210A>T (p.Ser1070=) c.2931A>T (p.Ser977=) c.1974A>T (p.Ser658=) c.1965A>T (p.Ser655=) | |
| 5 | g.37001006A>C | CA359518761 | NIPBL | c.3592A>C (p.Thr1198Pro) c.1-63572A>C (n.1-63572A>C) c.2848A>C (p.Thr950Pro) c.3394A>C (p.Thr1132Pro) c.3211A>C (p.Thr1071Pro) c.2932A>C (p.Thr978Pro) c.1975A>C (p.Thr659Pro) c.1966A>C (p.Thr656Pro) | |
| 5 | g.37001006A>G | CA359518763 | NIPBL | c.3592A>G (p.Thr1198Ala) c.1-63572A>G (n.1-63572A>G) c.2848A>G (p.Thr950Ala) c.3394A>G (p.Thr1132Ala) c.3211A>G (p.Thr1071Ala) c.2932A>G (p.Thr978Ala) c.1975A>G (p.Thr659Ala) c.1966A>G (p.Thr656Ala) | |
| 5 | g.37001006A>T | CA359518765 | NIPBL | c.3592A>T (p.Thr1198Ser) c.1-63572A>T (n.1-63572A>T) c.2848A>T (p.Thr950Ser) c.3394A>T (p.Thr1132Ser) c.3211A>T (p.Thr1071Ser) c.2932A>T (p.Thr978Ser) c.1975A>T (p.Thr659Ser) c.1966A>T (p.Thr656Ser) | |
| 5 | g.37001007C>A | CA359518769 | NIPBL | c.3593C>A (p.Thr1198Asn) c.1-63571C>A (n.1-63571C>A) c.2849C>A (p.Thr950Asn) c.3395C>A (p.Thr1132Asn) c.3212C>A (p.Thr1071Asn) c.2933C>A (p.Thr978Asn) c.1976C>A (p.Thr659Asn) c.1967C>A (p.Thr656Asn) | |
| 5 | g.37001007C>G | CA359518771 | NIPBL | c.3593C>G (p.Thr1198Ser) c.1-63571C>G (n.1-63571C>G) c.2849C>G (p.Thr950Ser) c.3395C>G (p.Thr1132Ser) c.3212C>G (p.Thr1071Ser) c.2933C>G (p.Thr978Ser) c.1976C>G (p.Thr659Ser) c.1967C>G (p.Thr656Ser) | |
| 5 | g.37001007C>T | CA359518776 | NIPBL | c.3593C>T (p.Thr1198Ile) c.1-63571C>T (n.1-63571C>T) c.2849C>T (p.Thr950Ile) c.3395C>T (p.Thr1132Ile) c.3212C>T (p.Thr1071Ile) c.2933C>T (p.Thr978Ile) c.1976C>T (p.Thr659Ile) c.1967C>T (p.Thr656Ile) | |
| 5 | g.37001008T>A | CA443904555 | NIPBL | c.3594T>A (p.Thr1198=) c.1-63570T>A (n.1-63570T>A) c.2850T>A (p.Thr950=) c.3396T>A (p.Thr1132=) c.3213T>A (p.Thr1071=) c.2934T>A (p.Thr978=) c.1977T>A (p.Thr659=) c.1968T>A (p.Thr656=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37001008T>C | CA443904556 | NIPBL | c.3594T>C (p.Thr1198=) c.1-63570T>C (n.1-63570T>C) c.2850T>C (p.Thr950=) c.3396T>C (p.Thr1132=) c.3213T>C (p.Thr1071=) c.2934T>C (p.Thr978=) c.1977T>C (p.Thr659=) c.1968T>C (p.Thr656=) | |
| 5 | g.37001008T>G | CA443904557 | NIPBL | c.3594T>G (p.Thr1198=) c.1-63570T>G (n.1-63570T>G) c.2850T>G (p.Thr950=) c.3396T>G (p.Thr1132=) c.3213T>G (p.Thr1071=) c.2934T>G (p.Thr978=) c.1977T>G (p.Thr659=) c.1968T>G (p.Thr656=) | dbSNP |
| 5 | g.37001008T= | CA1539601571 | NIPBL | c.3594T= (p.Thr1198=) c.1-63570T= (n.1-63570T=) c.2850T= (p.Thr950=) c.3396T= (p.Thr1132=) c.3213T= (p.Thr1071=) c.2934T= (p.Thr978=) c.1977T= (p.Thr659=) c.1968T= (p.Thr656=) | |
| 5 | g.37001009T>A | CA359518784 | NIPBL | c.3595T>A (p.Phe1199Ile) c.1-63569T>A (n.1-63569T>A) c.2851T>A (p.Phe951Ile) c.3397T>A (p.Phe1133Ile) c.3214T>A (p.Phe1072Ile) c.2935T>A (p.Phe979Ile) c.1978T>A (p.Phe660Ile) c.1969T>A (p.Phe657Ile) | |
| 5 | g.37001009T>C | CA359518787 | NIPBL | c.3595T>C (p.Phe1199Leu) c.1-63569T>C (n.1-63569T>C) c.2851T>C (p.Phe951Leu) c.3397T>C (p.Phe1133Leu) c.3214T>C (p.Phe1072Leu) c.2935T>C (p.Phe979Leu) c.1978T>C (p.Phe660Leu) c.1969T>C (p.Phe657Leu) | |
| 5 | g.37001009T>G | CA359518795 | NIPBL | c.3595T>G (p.Phe1199Val) c.1-63569T>G (n.1-63569T>G) c.2851T>G (p.Phe951Val) c.3397T>G (p.Phe1133Val) c.3214T>G (p.Phe1072Val) c.2935T>G (p.Phe979Val) c.1978T>G (p.Phe660Val) c.1969T>G (p.Phe657Val) | |
| 5 | g.37001010T>A | CA359518801 | NIPBL | c.3596T>A (p.Phe1199Tyr) c.1-63568T>A (n.1-63568T>A) c.2852T>A (p.Phe951Tyr) c.3398T>A (p.Phe1133Tyr) c.3215T>A (p.Phe1072Tyr) c.2936T>A (p.Phe979Tyr) c.1979T>A (p.Phe660Tyr) c.1970T>A (p.Phe657Tyr) | |
| 5 | g.37001010T>C | CA359518804 | NIPBL | c.3596T>C (p.Phe1199Ser) c.1-63568T>C (n.1-63568T>C) c.2852T>C (p.Phe951Ser) c.3398T>C (p.Phe1133Ser) c.3215T>C (p.Phe1072Ser) c.2936T>C (p.Phe979Ser) c.1979T>C (p.Phe660Ser) c.1970T>C (p.Phe657Ser) | |
| 5 | g.37001010T>G | CA359518798 | NIPBL | c.3596T>G (p.Phe1199Cys) c.1-63568T>G (n.1-63568T>G) c.2852T>G (p.Phe951Cys) c.3398T>G (p.Phe1133Cys) c.3215T>G (p.Phe1072Cys) c.2936T>G (p.Phe979Cys) c.1979T>G (p.Phe660Cys) c.1970T>G (p.Phe657Cys) | |
| 5 | g.37001011T>A | CA359518821 | NIPBL | c.3597T>A (p.Phe1199Leu) c.1-63567T>A (n.1-63567T>A) c.2853T>A (p.Phe951Leu) c.3399T>A (p.Phe1133Leu) c.3216T>A (p.Phe1072Leu) c.2937T>A (p.Phe979Leu) c.1980T>A (p.Phe660Leu) c.1971T>A (p.Phe657Leu) | |
| 5 | g.37001011T>C | CA443904558 | NIPBL | c.3597T>C (p.Phe1199=) c.1-63567T>C (n.1-63567T>C) c.2853T>C (p.Phe951=) c.3399T>C (p.Phe1133=) c.3216T>C (p.Phe1072=) c.2937T>C (p.Phe979=) c.1980T>C (p.Phe660=) c.1971T>C (p.Phe657=) | |
| 5 | g.37001011T>G | CA359518809 | NIPBL | c.3597T>G (p.Phe1199Leu) c.1-63567T>G (n.1-63567T>G) c.2853T>G (p.Phe951Leu) c.3399T>G (p.Phe1133Leu) c.3216T>G (p.Phe1072Leu) c.2937T>G (p.Phe979Leu) c.1980T>G (p.Phe660Leu) c.1971T>G (p.Phe657Leu) | |
| 5 | g.37001012A>C | CA359518826 | NIPBL | c.3598A>C (p.Lys1200Gln) c.1-63566A>C (n.1-63566A>C) c.2854A>C (p.Lys952Gln) c.3400A>C (p.Lys1134Gln) c.3217A>C (p.Lys1073Gln) c.2938A>C (p.Lys980Gln) c.1981A>C (p.Lys661Gln) c.1972A>C (p.Lys658Gln) | |
| 5 | g.37001012A>G | CA359518827 | NIPBL | c.3598A>G (p.Lys1200Glu) c.1-63566A>G (n.1-63566A>G) c.2854A>G (p.Lys952Glu) c.3400A>G (p.Lys1134Glu) c.3217A>G (p.Lys1073Glu) c.2938A>G (p.Lys980Glu) c.1981A>G (p.Lys661Glu) c.1972A>G (p.Lys658Glu) | |
| 5 | g.37001012A>T | CA359518829 | NIPBL | c.3598A>T (p.Lys1200Ter) c.1-63566A>T (n.1-63566A>T) c.2854A>T (p.Lys952Ter) c.3400A>T (p.Lys1134Ter) c.3217A>T (p.Lys1073Ter) c.2938A>T (p.Lys980Ter) c.1981A>T (p.Lys661Ter) c.1972A>T (p.Lys658Ter) | |
| 5 | g.37001013A>C | CA359518833 | NIPBL | c.3599A>C (p.Lys1200Thr) c.1-63565A>C (n.1-63565A>C) c.2855A>C (p.Lys952Thr) c.3401A>C (p.Lys1134Thr) c.3218A>C (p.Lys1073Thr) c.2939A>C (p.Lys980Thr) c.1982A>C (p.Lys661Thr) c.1973A>C (p.Lys658Thr) | |
| 5 | g.37001013A>G | CA359518834 | NIPBL | c.3599A>G (p.Lys1200Arg) c.1-63565A>G (n.1-63565A>G) c.2855A>G (p.Lys952Arg) c.3401A>G (p.Lys1134Arg) c.3218A>G (p.Lys1073Arg) c.2939A>G (p.Lys980Arg) c.1982A>G (p.Lys661Arg) c.1973A>G (p.Lys658Arg) | |
| 5 | g.37001013A>T | CA359518839 | NIPBL | c.3599A>T (p.Lys1200Met) c.1-63565A>T (n.1-63565A>T) c.2855A>T (p.Lys952Met) c.3401A>T (p.Lys1134Met) c.3218A>T (p.Lys1073Met) c.2939A>T (p.Lys980Met) c.1982A>T (p.Lys661Met) c.1973A>T (p.Lys658Met) | |
| 5 | g.37001014G>A | CA443904559 | NIPBL | c.3600G>A (p.Lys1200=) c.1-63564G>A (n.1-63564G>A) c.2856G>A (p.Lys952=) c.3402G>A (p.Lys1134=) c.3219G>A (p.Lys1073=) c.2940G>A (p.Lys980=) c.1983G>A (p.Lys661=) c.1974G>A (p.Lys658=) | |
| 5 | g.37001014G>C | CA359518844 | NIPBL | c.3600G>C (p.Lys1200Asn) c.1-63564G>C (n.1-63564G>C) c.2856G>C (p.Lys952Asn) c.3402G>C (p.Lys1134Asn) c.3219G>C (p.Lys1073Asn) c.2940G>C (p.Lys980Asn) c.1983G>C (p.Lys661Asn) c.1974G>C (p.Lys658Asn) | COSMIC |
| 5 | g.37001014G>T | CA359518848 | NIPBL | c.3600G>T (p.Lys1200Asn) c.1-63564G>T (n.1-63564G>T) c.2856G>T (p.Lys952Asn) c.3402G>T (p.Lys1134Asn) c.3219G>T (p.Lys1073Asn) c.2940G>T (p.Lys980Asn) c.1983G>T (p.Lys661Asn) c.1974G>T (p.Lys658Asn) | |
| 5 | g.37001015A>C | CA443904560 | NIPBL | c.3601A>C (p.Arg1201=) c.1-63563A>C (n.1-63563A>C) c.2857A>C (p.Arg953=) c.3403A>C (p.Arg1135=) c.3220A>C (p.Arg1074=) c.2941A>C (p.Arg981=) c.1984A>C (p.Arg662=) c.1975A>C (p.Arg659=) | |
| 5 | g.37001015A>G | CA359518863 | NIPBL | c.3601A>G (p.Arg1201Gly) c.1-63563A>G (n.1-63563A>G) c.2857A>G (p.Arg953Gly) c.3403A>G (p.Arg1135Gly) c.3220A>G (p.Arg1074Gly) c.2941A>G (p.Arg981Gly) c.1984A>G (p.Arg662Gly) c.1975A>G (p.Arg659Gly) | |
| 5 | g.37001015A>T | CA359518871 | NIPBL | c.3601A>T (p.Arg1201Ter) c.1-63563A>T (n.1-63563A>T) c.2857A>T (p.Arg953Ter) c.3403A>T (p.Arg1135Ter) c.3220A>T (p.Arg1074Ter) c.2941A>T (p.Arg981Ter) c.1984A>T (p.Arg662Ter) c.1975A>T (p.Arg659Ter) | |
| 5 | g.37001016G>A | CA359518886 | NIPBL | c.3602G>A (p.Arg1201Lys) c.1-63562G>A (n.1-63562G>A) c.2858G>A (p.Arg953Lys) c.3404G>A (p.Arg1135Lys) c.3221G>A (p.Arg1074Lys) c.2942G>A (p.Arg981Lys) c.1985G>A (p.Arg662Lys) c.1976G>A (p.Arg659Lys) | |
| 5 | g.37001016G>C | CA359518884 | NIPBL | c.3602G>C (p.Arg1201Thr) c.1-63562G>C (n.1-63562G>C) c.2858G>C (p.Arg953Thr) c.3404G>C (p.Arg1135Thr) c.3221G>C (p.Arg1074Thr) c.2942G>C (p.Arg981Thr) c.1985G>C (p.Arg662Thr) c.1976G>C (p.Arg659Thr) | |
| 5 | g.37001016G>T | CA359518877 | NIPBL | c.3602G>T (p.Arg1201Ile) c.1-63562G>T (n.1-63562G>T) c.2858G>T (p.Arg953Ile) c.3404G>T (p.Arg1135Ile) c.3221G>T (p.Arg1074Ile) c.2942G>T (p.Arg981Ile) c.1985G>T (p.Arg662Ile) c.1976G>T (p.Arg659Ile) | |
| 5 | g.37001017A= | CA1539601574 | NIPBL | c.3603A= (p.Arg1201=) c.1-63561A= (n.1-63561A=) c.2859A= (p.Arg953=) c.3405A= (p.Arg1135=) c.3222A= (p.Arg1074=) c.2943A= (p.Arg981=) c.1986A= (p.Arg662=) c.1977A= (p.Arg659=) | |
| 5 | g.37001017A>C | CA359518887 | NIPBL | c.3603A>C (p.Arg1201Ser) c.1-63561A>C (n.1-63561A>C) c.2859A>C (p.Arg953Ser) c.3405A>C (p.Arg1135Ser) c.3222A>C (p.Arg1074Ser) c.2943A>C (p.Arg981Ser) c.1986A>C (p.Arg662Ser) c.1977A>C (p.Arg659Ser) | |
| 5 | g.37001017A>G | CA443904561 | NIPBL | c.3603A>G (p.Arg1201=) c.1-63561A>G (n.1-63561A>G) c.2859A>G (p.Arg953=) c.3405A>G (p.Arg1135=) c.3222A>G (p.Arg1074=) c.2943A>G (p.Arg981=) c.1986A>G (p.Arg662=) c.1977A>G (p.Arg659=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37001017A>T | CA359518888 | NIPBL | c.3603A>T (p.Arg1201Ser) c.1-63561A>T (n.1-63561A>T) c.2859A>T (p.Arg953Ser) c.3405A>T (p.Arg1135Ser) c.3222A>T (p.Arg1074Ser) c.2943A>T (p.Arg981Ser) c.1986A>T (p.Arg662Ser) c.1977A>T (p.Arg659Ser) | |
| 5 | g.37001018T>A | CA359518890 | NIPBL | c.3604T>A (p.Phe1202Ile) c.1-63560T>A (n.1-63560T>A) c.2860T>A (p.Phe954Ile) c.3406T>A (p.Phe1136Ile) c.3223T>A (p.Phe1075Ile) c.2944T>A (p.Phe982Ile) c.1987T>A (p.Phe663Ile) c.1978T>A (p.Phe660Ile) | |
| 5 | g.37001018T>C | CA359518892 | NIPBL | c.3604T>C (p.Phe1202Leu) c.1-63560T>C (n.1-63560T>C) c.2860T>C (p.Phe954Leu) c.3406T>C (p.Phe1136Leu) c.3223T>C (p.Phe1075Leu) c.2944T>C (p.Phe982Leu) c.1987T>C (p.Phe663Leu) c.1978T>C (p.Phe660Leu) | |
| 5 | g.37001018T>G | CA359518907 | NIPBL | c.3604T>G (p.Phe1202Val) c.1-63560T>G (n.1-63560T>G) c.2860T>G (p.Phe954Val) c.3406T>G (p.Phe1136Val) c.3223T>G (p.Phe1075Val) c.2944T>G (p.Phe982Val) c.1987T>G (p.Phe663Val) c.1978T>G (p.Phe660Val) | |
| 5 | g.37001019T>A | CA359518911 | NIPBL | c.3605T>A (p.Phe1202Tyr) c.1-63559T>A (n.1-63559T>A) c.2861T>A (p.Phe954Tyr) c.3407T>A (p.Phe1136Tyr) c.3224T>A (p.Phe1075Tyr) c.2945T>A (p.Phe982Tyr) c.1988T>A (p.Phe663Tyr) c.1979T>A (p.Phe660Tyr) | |
| 5 | g.37001019T>C | CA359518917 | NIPBL | c.3605T>C (p.Phe1202Ser) c.1-63559T>C (n.1-63559T>C) c.2861T>C (p.Phe954Ser) c.3407T>C (p.Phe1136Ser) c.3224T>C (p.Phe1075Ser) c.2945T>C (p.Phe982Ser) c.1988T>C (p.Phe663Ser) c.1979T>C (p.Phe660Ser) | |
| 5 | g.37001019T>G | CA359518922 | NIPBL | c.3605T>G (p.Phe1202Cys) c.1-63559T>G (n.1-63559T>G) c.2861T>G (p.Phe954Cys) c.3407T>G (p.Phe1136Cys) c.3224T>G (p.Phe1075Cys) c.2945T>G (p.Phe982Cys) c.1988T>G (p.Phe663Cys) c.1979T>G (p.Phe660Cys) | |
| 5 | g.37001020C>A | CA359518941 | NIPBL | c.3606C>A (p.Phe1202Leu) c.1-63558C>A (n.1-63558C>A) c.2862C>A (p.Phe954Leu) c.3408C>A (p.Phe1136Leu) c.3225C>A (p.Phe1075Leu) c.2946C>A (p.Phe982Leu) c.1989C>A (p.Phe663Leu) c.1980C>A (p.Phe660Leu) | gnomAD v4 |
| 5 | g.37001020C>G | CA359518944 | NIPBL | c.3606C>G (p.Phe1202Leu) c.1-63558C>G (n.1-63558C>G) c.2862C>G (p.Phe954Leu) c.3408C>G (p.Phe1136Leu) c.3225C>G (p.Phe1075Leu) c.2946C>G (p.Phe982Leu) c.1989C>G (p.Phe663Leu) c.1980C>G (p.Phe660Leu) | |
| 5 | g.37001020C>T | CA443904562 | NIPBL | c.3606C>T (p.Phe1202=) c.1-63558C>T (n.1-63558C>T) c.2862C>T (p.Phe954=) c.3408C>T (p.Phe1136=) c.3225C>T (p.Phe1075=) c.2946C>T (p.Phe982=) c.1989C>T (p.Phe663=) c.1980C>T (p.Phe660=) | |
| 5 | g.37001021A>C | CA359518956 | NIPBL | c.3607A>C (p.Thr1203Pro) c.1-63557A>C (n.1-63557A>C) c.2863A>C (p.Thr955Pro) c.3409A>C (p.Thr1137Pro) c.3226A>C (p.Thr1076Pro) c.2947A>C (p.Thr983Pro) c.1990A>C (p.Thr664Pro) c.1981A>C (p.Thr661Pro) | |
| 5 | g.37001021A>G | CA359518960 | NIPBL | c.3607A>G (p.Thr1203Ala) c.1-63557A>G (n.1-63557A>G) c.2863A>G (p.Thr955Ala) c.3409A>G (p.Thr1137Ala) c.3226A>G (p.Thr1076Ala) c.2947A>G (p.Thr983Ala) c.1990A>G (p.Thr664Ala) c.1981A>G (p.Thr661Ala) | |
| 5 | g.37001021A>T | CA359518962 | NIPBL | c.3607A>T (p.Thr1203Ser) c.1-63557A>T (n.1-63557A>T) c.2863A>T (p.Thr955Ser) c.3409A>T (p.Thr1137Ser) c.3226A>T (p.Thr1076Ser) c.2947A>T (p.Thr983Ser) c.1990A>T (p.Thr664Ser) c.1981A>T (p.Thr661Ser) | |
| 5 | g.37001022C>A | CA359518968 | NIPBL | c.3608C>A (p.Thr1203Lys) c.1-63556C>A (n.1-63556C>A) c.2864C>A (p.Thr955Lys) c.3410C>A (p.Thr1137Lys) c.3227C>A (p.Thr1076Lys) c.2948C>A (p.Thr983Lys) c.1991C>A (p.Thr664Lys) c.1982C>A (p.Thr661Lys) | |
| 5 | g.37001022C>G | CA359518966 | NIPBL | c.3608C>G (p.Thr1203Arg) c.1-63556C>G (n.1-63556C>G) c.2864C>G (p.Thr955Arg) c.3410C>G (p.Thr1137Arg) c.3227C>G (p.Thr1076Arg) c.2948C>G (p.Thr983Arg) c.1991C>G (p.Thr664Arg) c.1982C>G (p.Thr661Arg) | |
| 5 | g.37001022C>T | CA359518964 | NIPBL | c.3608C>T (p.Thr1203Ile) c.1-63556C>T (n.1-63556C>T) c.2864C>T (p.Thr955Ile) c.3410C>T (p.Thr1137Ile) c.3227C>T (p.Thr1076Ile) c.2948C>T (p.Thr983Ile) c.1991C>T (p.Thr664Ile) c.1982C>T (p.Thr661Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37001023A>C | CA443904563 | NIPBL | c.3609A>C (p.Thr1203=) c.1-63555A>C (n.1-63555A>C) c.2865A>C (p.Thr955=) c.3411A>C (p.Thr1137=) c.3228A>C (p.Thr1076=) c.2949A>C (p.Thr983=) c.1992A>C (p.Thr664=) c.1983A>C (p.Thr661=) | |
| 5 | g.37001023A>G | CA443904564 | NIPBL | c.3609A>G (p.Thr1203=) c.1-63555A>G (n.1-63555A>G) c.2865A>G (p.Thr955=) c.3411A>G (p.Thr1137=) c.3228A>G (p.Thr1076=) c.2949A>G (p.Thr983=) c.1992A>G (p.Thr664=) c.1983A>G (p.Thr661=) | |
| 5 | g.37001023A>T | CA443904565 | NIPBL | c.3609A>T (p.Thr1203=) c.1-63555A>T (n.1-63555A>T) c.2865A>T (p.Thr955=) c.3411A>T (p.Thr1137=) c.3228A>T (p.Thr1076=) c.2949A>T (p.Thr983=) c.1992A>T (p.Thr664=) c.1983A>T (p.Thr661=) | |
| 5 | g.37001024G>A | CA359518978 | NIPBL | c.3610G>A (p.Ala1204Thr) c.1-63554G>A (n.1-63554G>A) c.2866G>A (p.Ala956Thr) c.3412G>A (p.Ala1138Thr) c.3229G>A (p.Ala1077Thr) c.2950G>A (p.Ala984Thr) c.1993G>A (p.Ala665Thr) c.1984G>A (p.Ala662Thr) | |
| 5 | g.37001024G>C | CA359518972 | NIPBL | c.3610G>C (p.Ala1204Pro) c.1-63554G>C (n.1-63554G>C) c.2866G>C (p.Ala956Pro) c.3412G>C (p.Ala1138Pro) c.3229G>C (p.Ala1077Pro) c.2950G>C (p.Ala984Pro) c.1993G>C (p.Ala665Pro) c.1984G>C (p.Ala662Pro) | |
| 5 | g.37001024G>T | CA359518976 | NIPBL | c.3610G>T (p.Ala1204Ser) c.1-63554G>T (n.1-63554G>T) c.2866G>T (p.Ala956Ser) c.3412G>T (p.Ala1138Ser) c.3229G>T (p.Ala1077Ser) c.2950G>T (p.Ala984Ser) c.1993G>T (p.Ala665Ser) c.1984G>T (p.Ala662Ser) | |
| 5 | g.37001025C>A | CA359518984 | NIPBL | c.3611C>A (p.Ala1204Asp) c.1-63553C>A (n.1-63553C>A) c.2867C>A (p.Ala956Asp) c.3413C>A (p.Ala1138Asp) c.3230C>A (p.Ala1077Asp) c.2951C>A (p.Ala984Asp) c.1994C>A (p.Ala665Asp) c.1985C>A (p.Ala662Asp) | |
| 5 | g.37001025C= | CA1539601584 | NIPBL | c.3611C= (p.Ala1204=) c.1-63553C= (n.1-63553C=) c.2867C= (p.Ala956=) c.3413C= (p.Ala1138=) c.3230C= (p.Ala1077=) c.2951C= (p.Ala984=) c.1994C= (p.Ala665=) c.1985C= (p.Ala662=) | |
| 5 | g.37001025C>G | CA3236390 | NIPBL | c.3611C>G (p.Ala1204Gly) c.1-63553C>G (n.1-63553C>G) c.2867C>G (p.Ala956Gly) c.3413C>G (p.Ala1138Gly) c.3230C>G (p.Ala1077Gly) c.2951C>G (p.Ala984Gly) c.1994C>G (p.Ala665Gly) c.1985C>G (p.Ala662Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37001025C>T | CA359518990 | NIPBL | c.3611C>T (p.Ala1204Val) c.1-63553C>T (n.1-63553C>T) c.2867C>T (p.Ala956Val) c.3413C>T (p.Ala1138Val) c.3230C>T (p.Ala1077Val) c.2951C>T (p.Ala984Val) c.1994C>T (p.Ala665Val) c.1985C>T (p.Ala662Val) | |
| 5 | g.37001026C>A | CA443904567 | NIPBL | c.3612C>A (p.Ala1204=) c.1-63552C>A (n.1-63552C>A) c.2868C>A (p.Ala956=) c.3414C>A (p.Ala1138=) c.3231C>A (p.Ala1077=) c.2952C>A (p.Ala984=) c.1995C>A (p.Ala665=) c.1986C>A (p.Ala662=) | |
| 5 | g.37001026C= | CA1539601590 | NIPBL | c.3612C= (p.Ala1204=) c.1-63552C= (n.1-63552C=) c.2868C= (p.Ala956=) c.3414C= (p.Ala1138=) c.3231C= (p.Ala1077=) c.2952C= (p.Ala984=) c.1995C= (p.Ala665=) c.1986C= (p.Ala662=) | |
| 5 | g.37001026C>G | CA443904566 | NIPBL | c.3612C>G (p.Ala1204=) c.1-63552C>G (n.1-63552C>G) c.2868C>G (p.Ala956=) c.3414C>G (p.Ala1138=) c.3231C>G (p.Ala1077=) c.2952C>G (p.Ala984=) c.1995C>G (p.Ala665=) c.1986C>G (p.Ala662=) | |
| 5 | g.37001026C>T | CA3236391 | NIPBL | c.3612C>T (p.Ala1204=) c.1-63552C>T (n.1-63552C>T) c.2868C>T (p.Ala956=) c.3414C>T (p.Ala1138=) c.3231C>T (p.Ala1077=) c.2952C>T (p.Ala984=) c.1995C>T (p.Ala665=) c.1986C>T (p.Ala662=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37001027T>A | CA359518999 | NIPBL | c.3613T>A (p.Ser1205Thr) c.1-63551T>A (n.1-63551T>A) c.2869T>A (p.Ser957Thr) c.3415T>A (p.Ser1139Thr) c.3232T>A (p.Ser1078Thr) c.2953T>A (p.Ser985Thr) c.1996T>A (p.Ser666Thr) c.1987T>A (p.Ser663Thr) | |
| 5 | g.37001027T>C | CA359519002 | NIPBL | c.3613T>C (p.Ser1205Pro) c.1-63551T>C (n.1-63551T>C) c.2869T>C (p.Ser957Pro) c.3415T>C (p.Ser1139Pro) c.3232T>C (p.Ser1078Pro) c.2953T>C (p.Ser985Pro) c.1996T>C (p.Ser666Pro) c.1987T>C (p.Ser663Pro) | |
| 5 | g.37001027T>G | CA359519007 | NIPBL | c.3613T>G (p.Ser1205Ala) c.1-63551T>G (n.1-63551T>G) c.2869T>G (p.Ser957Ala) c.3415T>G (p.Ser1139Ala) c.3232T>G (p.Ser1078Ala) c.2953T>G (p.Ser985Ala) c.1996T>G (p.Ser666Ala) c.1987T>G (p.Ser663Ala) | |
| 5 | g.37001028C>A | CA359519019 | NIPBL | c.3614C>A (p.Ser1205Ter) c.1-63550C>A (n.1-63550C>A) c.2870C>A (p.Ser957Ter) c.3416C>A (p.Ser1139Ter) c.3233C>A (p.Ser1078Ter) c.2954C>A (p.Ser985Ter) c.1997C>A (p.Ser666Ter) c.1988C>A (p.Ser663Ter) | |
| 5 | g.37001028C>G | CA359519022 | NIPBL | c.3614C>G (p.Ser1205Ter) c.1-63550C>G (n.1-63550C>G) c.2870C>G (p.Ser957Ter) c.3416C>G (p.Ser1139Ter) c.3233C>G (p.Ser1078Ter) c.2954C>G (p.Ser985Ter) c.1997C>G (p.Ser666Ter) c.1988C>G (p.Ser663Ter) | |
| 5 | g.37001028C>T | CA359519024 | NIPBL | c.3614C>T (p.Ser1205Leu) c.1-63550C>T (n.1-63550C>T) c.2870C>T (p.Ser957Leu) c.3416C>T (p.Ser1139Leu) c.3233C>T (p.Ser1078Leu) c.2954C>T (p.Ser985Leu) c.1997C>T (p.Ser666Leu) c.1988C>T (p.Ser663Leu) | |
| 5 | g.37001028_37001031delinsCAAT | CA1539601594 | NIPBL | c.3614_3617delinsCAAT (p.Ser1205=) c.1-63550_1-63547delinsCAAT (n.1-63550_1-63547delinsCAAT) c.2870_2873delinsCAAT (p.Ser957=) c.3416_3419delinsCAAT (p.Ser1139=) c.3233_3236delinsCAAT (p.Ser1078=) c.2954_2957delinsCAAT (p.Ser985=) c.1997_2000delinsCAAT (p.Ser666=) c.1988_1991delinsCAAT (p.Ser663=) | |
| 5 | g.37001029A= | CA1539601599 | NIPBL | c.3615A= (p.Ser1205=) c.1-63549A= (n.1-63549A=) c.2871A= (p.Ser957=) c.3417A= (p.Ser1139=) c.3234A= (p.Ser1078=) c.2955A= (p.Ser985=) c.1998A= (p.Ser666=) c.1989A= (p.Ser663=) | |
| 5 | g.37001029A>C | CA443904568 | NIPBL | c.3615A>C (p.Ser1205=) c.1-63549A>C (n.1-63549A>C) c.2871A>C (p.Ser957=) c.3417A>C (p.Ser1139=) c.3234A>C (p.Ser1078=) c.2955A>C (p.Ser985=) c.1998A>C (p.Ser666=) c.1989A>C (p.Ser663=) | gnomAD v4 |
| 5 | g.37001029A>G | CA443904569 | NIPBL | c.3615A>G (p.Ser1205=) c.1-63549A>G (n.1-63549A>G) c.2871A>G (p.Ser957=) c.3417A>G (p.Ser1139=) c.3234A>G (p.Ser1078=) c.2955A>G (p.Ser985=) c.1998A>G (p.Ser666=) c.1989A>G (p.Ser663=) | |
| 5 | g.37001029A>T | CA117056594 | NIPBL | c.3615A>T (p.Ser1205=) c.1-63549A>T (n.1-63549A>T) c.2871A>T (p.Ser957=) c.3417A>T (p.Ser1139=) c.3234A>T (p.Ser1078=) c.2955A>T (p.Ser985=) c.1998A>T (p.Ser666=) c.1989A>T (p.Ser663=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37001030_37001032del | CA252117 | NIPBL | c.3616_3618del (p.Ile1206del) c.1-63548_1-63546del (n.1-63548_1-63546del) c.2872_2874del (p.Ile958del) c.3418_3420del (p.Ile1140del) c.3235_3237del (p.Ile1079del) c.2956_2958del (p.Ile986del) c.1999_2001del (p.Ile667del) c.1990_1992del (p.Ile664del) | ClinVar dbSNP |
| 5 | g.37001030A= | CA1539601605 | NIPBL | c.3616A= (p.Ile1206=) c.1-63548A= (n.1-63548A=) c.2872A= (p.Ile958=) c.3418A= (p.Ile1140=) c.3235A= (p.Ile1079=) c.2956A= (p.Ile986=) c.1999A= (p.Ile667=) c.1990A= (p.Ile664=) | |
| 5 | g.37001030A>C | CA359519039 | NIPBL | c.3616A>C (p.Ile1206Leu) c.1-63548A>C (n.1-63548A>C) c.2872A>C (p.Ile958Leu) c.3418A>C (p.Ile1140Leu) c.3235A>C (p.Ile1079Leu) c.2956A>C (p.Ile986Leu) c.1999A>C (p.Ile667Leu) c.1990A>C (p.Ile664Leu) | |
| 5 | g.37001030A>G | CA172688 | NIPBL | c.3616A>G (p.Ile1206Val) c.1-63548A>G (n.1-63548A>G) c.2872A>G (p.Ile958Val) c.3418A>G (p.Ile1140Val) c.3235A>G (p.Ile1079Val) c.2956A>G (p.Ile986Val) c.1999A>G (p.Ile667Val) c.1990A>G (p.Ile664Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37001030A>T | CA359519037 | NIPBL | c.3616A>T (p.Ile1206Leu) c.1-63548A>T (n.1-63548A>T) c.2872A>T (p.Ile958Leu) c.3418A>T (p.Ile1140Leu) c.3235A>T (p.Ile1079Leu) c.2956A>T (p.Ile986Leu) c.1999A>T (p.Ile667Leu) c.1990A>T (p.Ile664Leu) | |
| 5 | g.37001031T>A | CA359519042 | NIPBL | c.3617T>A (p.Ile1206Lys) c.1-63547T>A (n.1-63547T>A) c.2873T>A (p.Ile958Lys) c.3419T>A (p.Ile1140Lys) c.3236T>A (p.Ile1079Lys) c.2957T>A (p.Ile986Lys) c.2000T>A (p.Ile667Lys) c.1991T>A (p.Ile664Lys) | |
| 5 | g.37001031T>C | CA359519046 | NIPBL | c.3617T>C (p.Ile1206Thr) c.1-63547T>C (n.1-63547T>C) c.2873T>C (p.Ile958Thr) c.3419T>C (p.Ile1140Thr) c.3236T>C (p.Ile1079Thr) c.2957T>C (p.Ile986Thr) c.2000T>C (p.Ile667Thr) c.1991T>C (p.Ile664Thr) | |
| 5 | g.37001031T>G | CA359519051 | NIPBL | c.3617T>G (p.Ile1206Arg) c.1-63547T>G (n.1-63547T>G) c.2873T>G (p.Ile958Arg) c.3419T>G (p.Ile1140Arg) c.3236T>G (p.Ile1079Arg) c.2957T>G (p.Ile986Arg) c.2000T>G (p.Ile667Arg) c.1991T>G (p.Ile664Arg) | gnomAD v4 |
| 5 | g.37001032A>C | CA443904570 | NIPBL | c.3618A>C (p.Ile1206=) c.1-63546A>C (n.1-63546A>C) c.2874A>C (p.Ile958=) c.3420A>C (p.Ile1140=) c.3237A>C (p.Ile1079=) c.2958A>C (p.Ile986=) c.2001A>C (p.Ile667=) c.1992A>C (p.Ile664=) | |
| 5 | g.37001032A>G | CA359519054 | NIPBL | c.3618A>G (p.Ile1206Met) c.1-63546A>G (n.1-63546A>G) c.2874A>G (p.Ile958Met) c.3420A>G (p.Ile1140Met) c.3237A>G (p.Ile1079Met) c.2958A>G (p.Ile986Met) c.2001A>G (p.Ile667Met) c.1992A>G (p.Ile664Met) | gnomAD v4 |
| 5 | g.37001032A>T | CA443904571 | NIPBL | c.3618A>T (p.Ile1206=) c.1-63546A>T (n.1-63546A>T) c.2874A>T (p.Ile958=) c.3420A>T (p.Ile1140=) c.3237A>T (p.Ile1079=) c.2958A>T (p.Ile986=) c.2001A>T (p.Ile667=) c.1992A>T (p.Ile664=) | |
| 5 | g.37001033G>A | CA359519058 | NIPBL | c.3619G>A (p.Glu1207Lys) c.1-63545G>A (n.1-63545G>A) c.2875G>A (p.Glu959Lys) c.3421G>A (p.Glu1141Lys) c.3238G>A (p.Glu1080Lys) c.2959G>A (p.Glu987Lys) c.2002G>A (p.Glu668Lys) c.1993G>A (p.Glu665Lys) | COSMIC COSMIC |
| 5 | g.37001033G>C | CA359519066 | NIPBL | c.3619G>C (p.Glu1207Gln) c.1-63545G>C (n.1-63545G>C) c.2875G>C (p.Glu959Gln) c.3421G>C (p.Glu1141Gln) c.3238G>C (p.Glu1080Gln) c.2959G>C (p.Glu987Gln) c.2002G>C (p.Glu668Gln) c.1993G>C (p.Glu665Gln) | |
| 5 | g.37001033G>T | CA359519070 | NIPBL | c.3619G>T (p.Glu1207Ter) c.1-63545G>T (n.1-63545G>T) c.2875G>T (p.Glu959Ter) c.3421G>T (p.Glu1141Ter) c.3238G>T (p.Glu1080Ter) c.2959G>T (p.Glu987Ter) c.2002G>T (p.Glu668Ter) c.1993G>T (p.Glu665Ter) | |
| 5 | g.37001034A>C | CA359519079 | NIPBL | c.3620A>C (p.Glu1207Ala) c.1-63544A>C (n.1-63544A>C) c.2876A>C (p.Glu959Ala) c.3422A>C (p.Glu1141Ala) c.3239A>C (p.Glu1080Ala) c.2960A>C (p.Glu987Ala) c.2003A>C (p.Glu668Ala) c.1994A>C (p.Glu665Ala) | |
| 5 | g.37001034A>G | CA359519082 | NIPBL | c.3620A>G (p.Glu1207Gly) c.1-63544A>G (n.1-63544A>G) c.2876A>G (p.Glu959Gly) c.3422A>G (p.Glu1141Gly) c.3239A>G (p.Glu1080Gly) c.2960A>G (p.Glu987Gly) c.2003A>G (p.Glu668Gly) c.1994A>G (p.Glu665Gly) | |
| 5 | g.37001034A>T | CA359519087 | NIPBL | c.3620A>T (p.Glu1207Val) c.1-63544A>T (n.1-63544A>T) c.2876A>T (p.Glu959Val) c.3422A>T (p.Glu1141Val) c.3239A>T (p.Glu1080Val) c.2960A>T (p.Glu987Val) c.2003A>T (p.Glu668Val) c.1994A>T (p.Glu665Val) | |
| 5 | g.37001035G>A | CA443904572 | NIPBL | c.3621G>A (p.Glu1207=) c.1-63543G>A (n.1-63543G>A) c.2877G>A (p.Glu959=) c.3423G>A (p.Glu1141=) c.3240G>A (p.Glu1080=) c.2961G>A (p.Glu987=) c.2004G>A (p.Glu668=) c.1995G>A (p.Glu665=) | |
| 5 | g.37001035G>C | CA359519096 | NIPBL | c.3621G>C (p.Glu1207Asp) c.1-63543G>C (n.1-63543G>C) c.2877G>C (p.Glu959Asp) c.3423G>C (p.Glu1141Asp) c.3240G>C (p.Glu1080Asp) c.2961G>C (p.Glu987Asp) c.2004G>C (p.Glu668Asp) c.1995G>C (p.Glu665Asp) | |
| 5 | g.37001035G= | CA1539601607 | NIPBL | c.3621G= (p.Glu1207=) c.1-63543G= (n.1-63543G=) c.2877G= (p.Glu959=) c.3423G= (p.Glu1141=) c.3240G= (p.Glu1080=) c.2961G= (p.Glu987=) c.2004G= (p.Glu668=) c.1995G= (p.Glu665=) | |
| 5 | g.37001035G>T | CA359519105 | NIPBL | c.3621G>T (p.Glu1207Asp) c.1-63543G>T (n.1-63543G>T) c.2877G>T (p.Glu959Asp) c.3423G>T (p.Glu1141Asp) c.3240G>T (p.Glu1080Asp) c.2961G>T (p.Glu987Asp) c.2004G>T (p.Glu668Asp) c.1995G>T (p.Glu665Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37001036A>C | CA359519124 | NIPBL | c.3622A>C (p.Asn1208His) c.1-63542A>C (n.1-63542A>C) c.2878A>C (p.Asn960His) c.3424A>C (p.Asn1142His) c.3241A>C (p.Asn1081His) c.2962A>C (p.Asn988His) c.2005A>C (p.Asn669His) c.1996A>C (p.Asn666His) | |
| 5 | g.37001036A>G | CA359519128 | NIPBL | c.3622A>G (p.Asn1208Asp) c.1-63542A>G (n.1-63542A>G) c.2878A>G (p.Asn960Asp) c.3424A>G (p.Asn1142Asp) c.3241A>G (p.Asn1081Asp) c.2962A>G (p.Asn988Asp) c.2005A>G (p.Asn669Asp) c.1996A>G (p.Asn666Asp) | |
| 5 | g.37001036A>T | CA359519115 | NIPBL | c.3622A>T (p.Asn1208Tyr) c.1-63542A>T (n.1-63542A>T) c.2878A>T (p.Asn960Tyr) c.3424A>T (p.Asn1142Tyr) c.3241A>T (p.Asn1081Tyr) c.2962A>T (p.Asn988Tyr) c.2005A>T (p.Asn669Tyr) c.1996A>T (p.Asn666Tyr) | |
| 5 | g.37001037A>C | CA359519137 | NIPBL | c.3623A>C (p.Asn1208Thr) c.1-63541A>C (n.1-63541A>C) c.2879A>C (p.Asn960Thr) c.3425A>C (p.Asn1142Thr) c.3242A>C (p.Asn1081Thr) c.2963A>C (p.Asn988Thr) c.2006A>C (p.Asn669Thr) c.1997A>C (p.Asn666Thr) | |
| 5 | g.37001037A>G | CA359519144 | NIPBL | c.3623A>G (p.Asn1208Ser) c.1-63541A>G (n.1-63541A>G) c.2879A>G (p.Asn960Ser) c.3425A>G (p.Asn1142Ser) c.3242A>G (p.Asn1081Ser) c.2963A>G (p.Asn988Ser) c.2006A>G (p.Asn669Ser) c.1997A>G (p.Asn666Ser) | |
| 5 | g.37001037A>T | CA359519140 | NIPBL | c.3623A>T (p.Asn1208Ile) c.1-63541A>T (n.1-63541A>T) c.2879A>T (p.Asn960Ile) c.3425A>T (p.Asn1142Ile) c.3242A>T (p.Asn1081Ile) c.2963A>T (p.Asn988Ile) c.2006A>T (p.Asn669Ile) c.1997A>T (p.Asn666Ile) | |
| 5 | g.37001038T>A | CA359519150 | NIPBL | c.3624T>A (p.Asn1208Lys) c.1-63540T>A (n.1-63540T>A) c.2880T>A (p.Asn960Lys) c.3426T>A (p.Asn1142Lys) c.3243T>A (p.Asn1081Lys) c.2964T>A (p.Asn988Lys) c.2007T>A (p.Asn669Lys) c.1998T>A (p.Asn666Lys) | |
| 5 | g.37001038T>C | CA443904573 | NIPBL | c.3624T>C (p.Asn1208=) c.1-63540T>C (n.1-63540T>C) c.2880T>C (p.Asn960=) c.3426T>C (p.Asn1142=) c.3243T>C (p.Asn1081=) c.2964T>C (p.Asn988=) c.2007T>C (p.Asn669=) c.1998T>C (p.Asn666=) | |
| 5 | g.37001038T>G | CA359519152 | NIPBL | c.3624T>G (p.Asn1208Lys) c.1-63540T>G (n.1-63540T>G) c.2880T>G (p.Asn960Lys) c.3426T>G (p.Asn1142Lys) c.3243T>G (p.Asn1081Lys) c.2964T>G (p.Asn988Lys) c.2007T>G (p.Asn669Lys) c.1998T>G (p.Asn666Lys) | |
| 5 | g.37001039A>C | CA359519164 | NIPBL | c.3625A>C (p.Ile1209Leu) c.1-63539A>C (n.1-63539A>C) c.2881A>C (p.Ile961Leu) c.3427A>C (p.Ile1143Leu) c.3244A>C (p.Ile1082Leu) c.2965A>C (p.Ile989Leu) c.2008A>C (p.Ile670Leu) c.1999A>C (p.Ile667Leu) | |
| 5 | g.37001039A>G | CA359519169 | NIPBL | c.3625A>G (p.Ile1209Val) c.1-63539A>G (n.1-63539A>G) c.2881A>G (p.Ile961Val) c.3427A>G (p.Ile1143Val) c.3244A>G (p.Ile1082Val) c.2965A>G (p.Ile989Val) c.2008A>G (p.Ile670Val) c.1999A>G (p.Ile667Val) | COSMIC COSMIC |
| 5 | g.37001039A>T | CA359519174 | NIPBL | c.3625A>T (p.Ile1209Phe) c.1-63539A>T (n.1-63539A>T) c.2881A>T (p.Ile961Phe) c.3427A>T (p.Ile1143Phe) c.3244A>T (p.Ile1082Phe) c.2965A>T (p.Ile989Phe) c.2008A>T (p.Ile670Phe) c.1999A>T (p.Ile667Phe) | |
| 5 | g.37001040T>A | CA359519175 | NIPBL | c.3626T>A (p.Ile1209Asn) c.1-63538T>A (n.1-63538T>A) c.2882T>A (p.Ile961Asn) c.3428T>A (p.Ile1143Asn) c.3245T>A (p.Ile1082Asn) c.2966T>A (p.Ile989Asn) c.2009T>A (p.Ile670Asn) c.2000T>A (p.Ile667Asn) | |
| 5 | g.37001040T>C | CA359519177 | NIPBL | c.3626T>C (p.Ile1209Thr) c.1-63538T>C (n.1-63538T>C) c.2882T>C (p.Ile961Thr) c.3428T>C (p.Ile1143Thr) c.3245T>C (p.Ile1082Thr) c.2966T>C (p.Ile989Thr) c.2009T>C (p.Ile670Thr) c.2000T>C (p.Ile667Thr) | |
| 5 | g.37001040T>G | CA359519181 | NIPBL | c.3626T>G (p.Ile1209Ser) c.1-63538T>G (n.1-63538T>G) c.2882T>G (p.Ile961Ser) c.3428T>G (p.Ile1143Ser) c.3245T>G (p.Ile1082Ser) c.2966T>G (p.Ile989Ser) c.2009T>G (p.Ile670Ser) c.2000T>G (p.Ile667Ser) | |
| 5 | g.37001041T>A | CA443904574 | NIPBL | c.3627T>A (p.Ile1209=) c.1-63537T>A (n.1-63537T>A) c.2883T>A (p.Ile961=) c.3429T>A (p.Ile1143=) c.3246T>A (p.Ile1082=) c.2967T>A (p.Ile989=) c.2010T>A (p.Ile670=) c.2001T>A (p.Ile667=) | |
| 5 | g.37001041T>C | CA443904575 | NIPBL | c.3627T>C (p.Ile1209=) c.1-63537T>C (n.1-63537T>C) c.2883T>C (p.Ile961=) c.3429T>C (p.Ile1143=) c.3246T>C (p.Ile1082=) c.2967T>C (p.Ile989=) c.2010T>C (p.Ile670=) c.2001T>C (p.Ile667=) | |
| 5 | g.37001041T>G | CA359519192 | NIPBL | c.3627T>G (p.Ile1209Met) c.1-63537T>G (n.1-63537T>G) c.2883T>G (p.Ile961Met) c.3429T>G (p.Ile1143Met) c.3246T>G (p.Ile1082Met) c.2967T>G (p.Ile989Met) c.2010T>G (p.Ile670Met) c.2001T>G (p.Ile667Met) | |
| 5 | g.37001042T>A | CA359519198 | NIPBL | c.3628T>A (p.Leu1210Met) c.1-63536T>A (n.1-63536T>A) c.2884T>A (p.Leu962Met) c.3430T>A (p.Leu1144Met) c.3247T>A (p.Leu1083Met) c.2968T>A (p.Leu990Met) c.2011T>A (p.Leu671Met) c.2002T>A (p.Leu668Met) | |
| 5 | g.37001042T>C | CA443904576 | NIPBL | c.3628T>C (p.Leu1210=) c.1-63536T>C (n.1-63536T>C) c.2884T>C (p.Leu962=) c.3430T>C (p.Leu1144=) c.3247T>C (p.Leu1083=) c.2968T>C (p.Leu990=) c.2011T>C (p.Leu671=) c.2002T>C (p.Leu668=) | |
| 5 | g.37001042T>G | CA359519208 | NIPBL | c.3628T>G (p.Leu1210Val) c.1-63536T>G (n.1-63536T>G) c.2884T>G (p.Leu962Val) c.3430T>G (p.Leu1144Val) c.3247T>G (p.Leu1083Val) c.2968T>G (p.Leu990Val) c.2011T>G (p.Leu671Val) c.2002T>G (p.Leu668Val) | |
| 5 | g.37001043T>A | CA359519241 | NIPBL | c.3629T>A (p.Leu1210Ter) c.1-63535T>A (n.1-63535T>A) c.2885T>A (p.Leu962Ter) c.3431T>A (p.Leu1144Ter) c.3248T>A (p.Leu1083Ter) c.2969T>A (p.Leu990Ter) c.2012T>A (p.Leu671Ter) c.2003T>A (p.Leu668Ter) | |
| 5 | g.37001043T>C | CA359519220 | NIPBL | c.3629T>C (p.Leu1210Ser) c.1-63535T>C (n.1-63535T>C) c.2885T>C (p.Leu962Ser) c.3431T>C (p.Leu1144Ser) c.3248T>C (p.Leu1083Ser) c.2969T>C (p.Leu990Ser) c.2012T>C (p.Leu671Ser) c.2003T>C (p.Leu668Ser) | |
| 5 | g.37001043T>G | CA359519215 | NIPBL | c.3629T>G (p.Leu1210Trp) c.1-63535T>G (n.1-63535T>G) c.2885T>G (p.Leu962Trp) c.3431T>G (p.Leu1144Trp) c.3248T>G (p.Leu1083Trp) c.2969T>G (p.Leu990Trp) c.2012T>G (p.Leu671Trp) c.2003T>G (p.Leu668Trp) | gnomAD v4 |
| 5 | g.37001044G>A | CA3236392 | NIPBL | c.3630G>A (p.Leu1210=) c.1-63534G>A (n.1-63534G>A) c.2886G>A (p.Leu962=) c.3432G>A (p.Leu1144=) c.3249G>A (p.Leu1083=) c.2970G>A (p.Leu990=) c.2013G>A (p.Leu671=) c.2004G>A (p.Leu668=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37001044G>C | CA359519251 | NIPBL | c.3630G>C (p.Leu1210Phe) c.1-63534G>C (n.1-63534G>C) c.2886G>C (p.Leu962Phe) c.3432G>C (p.Leu1144Phe) c.3249G>C (p.Leu1083Phe) c.2970G>C (p.Leu990Phe) c.2013G>C (p.Leu671Phe) c.2004G>C (p.Leu668Phe) | |
| 5 | g.37001044G= | CA1539601608 | NIPBL | c.3630G= (p.Leu1210=) c.1-63534G= (n.1-63534G=) c.2886G= (p.Leu962=) c.3432G= (p.Leu1144=) c.3249G= (p.Leu1083=) c.2970G= (p.Leu990=) c.2013G= (p.Leu671=) c.2004G= (p.Leu668=) | |
| 5 | g.37001044G>T | CA359519253 | NIPBL | c.3630G>T (p.Leu1210Phe) c.1-63534G>T (n.1-63534G>T) c.2886G>T (p.Leu962Phe) c.3432G>T (p.Leu1144Phe) c.3249G>T (p.Leu1083Phe) c.2970G>T (p.Leu990Phe) c.2013G>T (p.Leu671Phe) c.2004G>T (p.Leu668Phe) | |
| 5 | g.37001045G>A | CA359519254 | NIPBL | c.3631G>A (p.Asp1211Asn) c.1-63533G>A (n.1-63533G>A) c.2887G>A (p.Asp963Asn) c.3433G>A (p.Asp1145Asn) c.3250G>A (p.Asp1084Asn) c.2971G>A (p.Asp991Asn) c.2014G>A (p.Asp672Asn) c.2005G>A (p.Asp669Asn) | |
| 5 | g.37001045G>C | CA359519257 | NIPBL | c.3631G>C (p.Asp1211His) c.1-63533G>C (n.1-63533G>C) c.2887G>C (p.Asp963His) c.3433G>C (p.Asp1145His) c.3250G>C (p.Asp1084His) c.2971G>C (p.Asp991His) c.2014G>C (p.Asp672His) c.2005G>C (p.Asp669His) | |
| 5 | g.37001045G>T | CA359519266 | NIPBL | c.3631G>T (p.Asp1211Tyr) c.1-63533G>T (n.1-63533G>T) c.2887G>T (p.Asp963Tyr) c.3433G>T (p.Asp1145Tyr) c.3250G>T (p.Asp1084Tyr) c.2971G>T (p.Asp991Tyr) c.2014G>T (p.Asp672Tyr) c.2005G>T (p.Asp669Tyr) | |
| 5 | g.37001046A>C | CA359519271 | NIPBL | c.3632A>C (p.Asp1211Ala) c.1-63532A>C (n.1-63532A>C) c.2888A>C (p.Asp963Ala) c.3434A>C (p.Asp1145Ala) c.3251A>C (p.Asp1084Ala) c.2972A>C (p.Asp991Ala) c.2015A>C (p.Asp672Ala) c.2006A>C (p.Asp669Ala) | |
| 5 | g.37001046A>G | CA359519275 | NIPBL | c.3632A>G (p.Asp1211Gly) c.1-63532A>G (n.1-63532A>G) c.2888A>G (p.Asp963Gly) c.3434A>G (p.Asp1145Gly) c.3251A>G (p.Asp1084Gly) c.2972A>G (p.Asp991Gly) c.2015A>G (p.Asp672Gly) c.2006A>G (p.Asp669Gly) | gnomAD v4 |
| 5 | g.37001046A>T | CA359519285 | NIPBL | c.3632A>T (p.Asp1211Val) c.1-63532A>T (n.1-63532A>T) c.2888A>T (p.Asp963Val) c.3434A>T (p.Asp1145Val) c.3251A>T (p.Asp1084Val) c.2972A>T (p.Asp991Val) c.2015A>T (p.Asp672Val) c.2006A>T (p.Asp669Val) | gnomAD v4 |
| 5 | g.37001047T>A | CA359519289 | NIPBL | c.3633T>A (p.Asp1211Glu) c.1-63531T>A (n.1-63531T>A) c.2889T>A (p.Asp963Glu) c.3435T>A (p.Asp1145Glu) c.3252T>A (p.Asp1084Glu) c.2973T>A (p.Asp991Glu) c.2016T>A (p.Asp672Glu) c.2007T>A (p.Asp669Glu) | |
| 5 | g.37001047T>C | CA117056635 | NIPBL | c.3633T>C (p.Asp1211=) c.1-63531T>C (n.1-63531T>C) c.2889T>C (p.Asp963=) c.3435T>C (p.Asp1145=) c.3252T>C (p.Asp1084=) c.2973T>C (p.Asp991=) c.2016T>C (p.Asp672=) c.2007T>C (p.Asp669=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37001047T>G | CA359519291 | NIPBL | c.3633T>G (p.Asp1211Glu) c.1-63531T>G (n.1-63531T>G) c.2889T>G (p.Asp963Glu) c.3435T>G (p.Asp1145Glu) c.3252T>G (p.Asp1084Glu) c.2973T>G (p.Asp991Glu) c.2016T>G (p.Asp672Glu) c.2007T>G (p.Asp669Glu) | |
| 5 | g.37001047T= | CA1539601610 | NIPBL | c.3633T= (p.Asp1211=) c.1-63531T= (n.1-63531T=) c.2889T= (p.Asp963=) c.3435T= (p.Asp1145=) c.3252T= (p.Asp1084=) c.2973T= (p.Asp991=) c.2016T= (p.Asp672=) c.2007T= (p.Asp669=) | |
| 5 | g.37001048A>C | CA359519302 | NIPBL | c.3634A>C (p.Asn1212His) c.1-63530A>C (n.1-63530A>C) c.2890A>C (p.Asn964His) c.3436A>C (p.Asn1146His) c.3253A>C (p.Asn1085His) c.2974A>C (p.Asn992His) c.2017A>C (p.Asn673His) c.2008A>C (p.Asn670His) | |
| 5 | g.37001048A>G | CA359519301 | NIPBL | c.3634A>G (p.Asn1212Asp) c.1-63530A>G (n.1-63530A>G) c.2890A>G (p.Asn964Asp) c.3436A>G (p.Asn1146Asp) c.3253A>G (p.Asn1085Asp) c.2974A>G (p.Asn992Asp) c.2017A>G (p.Asn673Asp) c.2008A>G (p.Asn670Asp) | |
| 5 | g.37001048A>T | CA359519296 | NIPBL | c.3634A>T (p.Asn1212Tyr) c.1-63530A>T (n.1-63530A>T) c.2890A>T (p.Asn964Tyr) c.3436A>T (p.Asn1146Tyr) c.3253A>T (p.Asn1085Tyr) c.2974A>T (p.Asn992Tyr) c.2017A>T (p.Asn673Tyr) c.2008A>T (p.Asn670Tyr) | |
| 5 | g.37001049A>C | CA359519303 | NIPBL | c.3635A>C (p.Asn1212Thr) c.1-63529A>C (n.1-63529A>C) c.2891A>C (p.Asn964Thr) c.3437A>C (p.Asn1146Thr) c.3254A>C (p.Asn1085Thr) c.2975A>C (p.Asn992Thr) c.2018A>C (p.Asn673Thr) c.2009A>C (p.Asn670Thr) | |
| 5 | g.37001049A>G | CA359519304 | NIPBL | c.3635A>G (p.Asn1212Ser) c.1-63529A>G (n.1-63529A>G) c.2891A>G (p.Asn964Ser) c.3437A>G (p.Asn1146Ser) c.3254A>G (p.Asn1085Ser) c.2975A>G (p.Asn992Ser) c.2018A>G (p.Asn673Ser) c.2009A>G (p.Asn670Ser) | |
| 5 | g.37001049A>T | CA359519308 | NIPBL | c.3635A>T (p.Asn1212Ile) c.1-63529A>T (n.1-63529A>T) c.2891A>T (p.Asn964Ile) c.3437A>T (p.Asn1146Ile) c.3254A>T (p.Asn1085Ile) c.2975A>T (p.Asn992Ile) c.2018A>T (p.Asn673Ile) c.2009A>T (p.Asn670Ile) | |
| 5 | g.37001050T>A | CA359519318 | NIPBL | c.3636T>A (p.Asn1212Lys) c.1-63528T>A (n.1-63528T>A) c.2892T>A (p.Asn964Lys) c.3438T>A (p.Asn1146Lys) c.3255T>A (p.Asn1085Lys) c.2976T>A (p.Asn992Lys) c.2019T>A (p.Asn673Lys) c.2010T>A (p.Asn670Lys) | |
| 5 | g.37001050T>C | CA443904577 | NIPBL | c.3636T>C (p.Asn1212=) c.1-63528T>C (n.1-63528T>C) c.2892T>C (p.Asn964=) c.3438T>C (p.Asn1146=) c.3255T>C (p.Asn1085=) c.2976T>C (p.Asn992=) c.2019T>C (p.Asn673=) c.2010T>C (p.Asn670=) | |
| 5 | g.37001050T>G | CA359519327 | NIPBL | c.3636T>G (p.Asn1212Lys) c.1-63528T>G (n.1-63528T>G) c.2892T>G (p.Asn964Lys) c.3438T>G (p.Asn1146Lys) c.3255T>G (p.Asn1085Lys) c.2976T>G (p.Asn992Lys) c.2019T>G (p.Asn673Lys) c.2010T>G (p.Asn670Lys) | |
| 5 | g.37001051T>A | CA359519337 | NIPBL | c.3637T>A (p.Leu1213Met) c.1-63527T>A (n.1-63527T>A) c.2893T>A (p.Leu965Met) c.3439T>A (p.Leu1147Met) c.3256T>A (p.Leu1086Met) c.2977T>A (p.Leu993Met) c.2020T>A (p.Leu674Met) c.2011T>A (p.Leu671Met) | |
| 5 | g.37001051T>C | CA443904578 | NIPBL | c.3637T>C (p.Leu1213=) c.1-63527T>C (n.1-63527T>C) c.2893T>C (p.Leu965=) c.3439T>C (p.Leu1147=) c.3256T>C (p.Leu1086=) c.2977T>C (p.Leu993=) c.2020T>C (p.Leu674=) c.2011T>C (p.Leu671=) | dbSNP |
| 5 | g.37001051T>G | CA359519343 | NIPBL | c.3637T>G (p.Leu1213Val) c.1-63527T>G (n.1-63527T>G) c.2893T>G (p.Leu965Val) c.3439T>G (p.Leu1147Val) c.3256T>G (p.Leu1086Val) c.2977T>G (p.Leu993Val) c.2020T>G (p.Leu674Val) c.2011T>G (p.Leu671Val) | |
| 5 | g.37001051T= | CA1539601616 | NIPBL | c.3637T= (p.Leu1213=) c.1-63527T= (n.1-63527T=) c.2893T= (p.Leu965=) c.3439T= (p.Leu1147=) c.3256T= (p.Leu1086=) c.2977T= (p.Leu993=) c.2020T= (p.Leu674=) c.2011T= (p.Leu671=) | |
| 5 | g.37001052T>A | CA359519350 | NIPBL | c.3638T>A (p.Leu1213Ter) c.1-63526T>A (n.1-63526T>A) c.2894T>A (p.Leu965Ter) c.3440T>A (p.Leu1147Ter) c.3257T>A (p.Leu1086Ter) c.2978T>A (p.Leu993Ter) c.2021T>A (p.Leu674Ter) c.2012T>A (p.Leu671Ter) | |
| 5 | g.37001052T>C | CA359519353 | NIPBL | c.3638T>C (p.Leu1213Ser) c.1-63526T>C (n.1-63526T>C) c.2894T>C (p.Leu965Ser) c.3440T>C (p.Leu1147Ser) c.3257T>C (p.Leu1086Ser) c.2978T>C (p.Leu993Ser) c.2021T>C (p.Leu674Ser) c.2012T>C (p.Leu671Ser) | |
| 5 | g.37001052T>G | CA359519356 | NIPBL | c.3638T>G (p.Leu1213Trp) c.1-63526T>G (n.1-63526T>G) c.2894T>G (p.Leu965Trp) c.3440T>G (p.Leu1147Trp) c.3257T>G (p.Leu1086Trp) c.2978T>G (p.Leu993Trp) c.2021T>G (p.Leu674Trp) c.2012T>G (p.Leu671Trp) | |
| 5 | g.37001053G>A | CA443904579 | NIPBL | c.3639G>A (p.Leu1213=) c.1-63525G>A (n.1-63525G>A) c.2895G>A (p.Leu965=) c.3441G>A (p.Leu1147=) c.3258G>A (p.Leu1086=) c.2979G>A (p.Leu993=) c.2022G>A (p.Leu674=) c.2013G>A (p.Leu671=) | |
| 5 | g.37001053G>C | CA359519361 | NIPBL | c.3639G>C (p.Leu1213Phe) c.1-63525G>C (n.1-63525G>C) c.2895G>C (p.Leu965Phe) c.3441G>C (p.Leu1147Phe) c.3258G>C (p.Leu1086Phe) c.2979G>C (p.Leu993Phe) c.2022G>C (p.Leu674Phe) c.2013G>C (p.Leu671Phe) | |
| 5 | g.37001053G>T | CA359519366 | NIPBL | c.3639G>T (p.Leu1213Phe) c.1-63525G>T (n.1-63525G>T) c.2895G>T (p.Leu965Phe) c.3441G>T (p.Leu1147Phe) c.3258G>T (p.Leu1086Phe) c.2979G>T (p.Leu993Phe) c.2022G>T (p.Leu674Phe) c.2013G>T (p.Leu671Phe) | |
| 5 | g.37001054G>A | CA359519389 | NIPBL | c.3640G>A (p.Glu1214Lys) c.1-63524G>A (n.1-63524G>A) c.2896G>A (p.Glu966Lys) c.3442G>A (p.Glu1148Lys) c.3259G>A (p.Glu1087Lys) c.2980G>A (p.Glu994Lys) c.2023G>A (p.Glu675Lys) c.2014G>A (p.Glu672Lys) | |
| 5 | g.37001054G>C | CA359519386 | NIPBL | c.3640G>C (p.Glu1214Gln) c.1-63524G>C (n.1-63524G>C) c.2896G>C (p.Glu966Gln) c.3442G>C (p.Glu1148Gln) c.3259G>C (p.Glu1087Gln) c.2980G>C (p.Glu994Gln) c.2023G>C (p.Glu675Gln) c.2014G>C (p.Glu672Gln) | |
| 5 | g.37001054G>T | CA359519377 | NIPBL | c.3640G>T (p.Glu1214Ter) c.1-63524G>T (n.1-63524G>T) c.2896G>T (p.Glu966Ter) c.3442G>T (p.Glu1148Ter) c.3259G>T (p.Glu1087Ter) c.2980G>T (p.Glu994Ter) c.2023G>T (p.Glu675Ter) c.2014G>T (p.Glu672Ter) | |
| 5 | g.37001055A>C | CA359519393 | NIPBL | c.3641A>C (p.Glu1214Ala) c.1-63523A>C (n.1-63523A>C) c.2897A>C (p.Glu966Ala) c.3443A>C (p.Glu1148Ala) c.3260A>C (p.Glu1087Ala) c.2981A>C (p.Glu994Ala) c.2024A>C (p.Glu675Ala) c.2015A>C (p.Glu672Ala) | |
| 5 | g.37001055A>G | CA359519394 | NIPBL | c.3641A>G (p.Glu1214Gly) c.1-63523A>G (n.1-63523A>G) c.2897A>G (p.Glu966Gly) c.3443A>G (p.Glu1148Gly) c.3260A>G (p.Glu1087Gly) c.2981A>G (p.Glu994Gly) c.2024A>G (p.Glu675Gly) c.2015A>G (p.Glu672Gly) | |
| 5 | g.37001055A>T | CA359519395 | NIPBL | c.3641A>T (p.Glu1214Val) c.1-63523A>T (n.1-63523A>T) c.2897A>T (p.Glu966Val) c.3443A>T (p.Glu1148Val) c.3260A>T (p.Glu1087Val) c.2981A>T (p.Glu994Val) c.2024A>T (p.Glu675Val) c.2015A>T (p.Glu672Val) | |
| 5 | g.37001056A= | CA1539601622 | NIPBL | c.3642A= (p.Glu1214=) c.1-63522A= (n.1-63522A=) c.2898A= (p.Glu966=) c.3444A= (p.Glu1148=) c.3261A= (p.Glu1087=) c.2982A= (p.Glu994=) c.2025A= (p.Glu675=) c.2016A= (p.Glu672=) | |
| 5 | g.37001056A>C | CA359519401 | NIPBL | c.3642A>C (p.Glu1214Asp) c.1-63522A>C (n.1-63522A>C) c.2898A>C (p.Glu966Asp) c.3444A>C (p.Glu1148Asp) c.3261A>C (p.Glu1087Asp) c.2982A>C (p.Glu994Asp) c.2025A>C (p.Glu675Asp) c.2016A>C (p.Glu672Asp) | |
| 5 | g.37001056A>G | CA117056643 | NIPBL | c.3642A>G (p.Glu1214=) c.1-63522A>G (n.1-63522A>G) c.2898A>G (p.Glu966=) c.3444A>G (p.Glu1148=) c.3261A>G (p.Glu1087=) c.2982A>G (p.Glu994=) c.2025A>G (p.Glu675=) c.2016A>G (p.Glu672=) | dbSNP |
| 5 | g.37001056A>T | CA359519403 | NIPBL | c.3642A>T (p.Glu1214Asp) c.1-63522A>T (n.1-63522A>T) c.2898A>T (p.Glu966Asp) c.3444A>T (p.Glu1148Asp) c.3261A>T (p.Glu1087Asp) c.2982A>T (p.Glu994Asp) c.2025A>T (p.Glu675Asp) c.2016A>T (p.Glu672Asp) | |
| 5 | g.37001057G>A | CA359519410 | NIPBL | c.3643G>A (p.Asp1215Asn) c.1-63521G>A (n.1-63521G>A) c.2899G>A (p.Asp967Asn) c.3445G>A (p.Asp1149Asn) c.3262G>A (p.Asp1088Asn) c.2983G>A (p.Asp995Asn) c.2026G>A (p.Asp676Asn) c.2017G>A (p.Asp673Asn) | |
| 5 | g.37001057G>C | CA359519414 | NIPBL | c.3643G>C (p.Asp1215His) c.1-63521G>C (n.1-63521G>C) c.2899G>C (p.Asp967His) c.3445G>C (p.Asp1149His) c.3262G>C (p.Asp1088His) c.2983G>C (p.Asp995His) c.2026G>C (p.Asp676His) c.2017G>C (p.Asp673His) | |
| 5 | g.37001057G>T | CA359519421 | NIPBL | c.3643G>T (p.Asp1215Tyr) c.1-63521G>T (n.1-63521G>T) c.2899G>T (p.Asp967Tyr) c.3445G>T (p.Asp1149Tyr) c.3262G>T (p.Asp1088Tyr) c.2983G>T (p.Asp995Tyr) c.2026G>T (p.Asp676Tyr) c.2017G>T (p.Asp673Tyr) | |
| 5 | g.37001058A>C | CA359519424 | NIPBL | c.3644A>C (p.Asp1215Ala) c.1-63520A>C (n.1-63520A>C) c.2900A>C (p.Asp967Ala) c.3446A>C (p.Asp1149Ala) c.3263A>C (p.Asp1088Ala) c.2984A>C (p.Asp995Ala) c.2027A>C (p.Asp676Ala) c.2018A>C (p.Asp673Ala) | |
| 5 | g.37001058A>G | CA359519431 | NIPBL | c.3644A>G (p.Asp1215Gly) c.1-63520A>G (n.1-63520A>G) c.2900A>G (p.Asp967Gly) c.3446A>G (p.Asp1149Gly) c.3263A>G (p.Asp1088Gly) c.2984A>G (p.Asp995Gly) c.2027A>G (p.Asp676Gly) c.2018A>G (p.Asp673Gly) | |
| 5 | g.37001058A>T | CA359519448 | NIPBL | c.3644A>T (p.Asp1215Val) c.1-63520A>T (n.1-63520A>T) c.2900A>T (p.Asp967Val) c.3446A>T (p.Asp1149Val) c.3263A>T (p.Asp1088Val) c.2984A>T (p.Asp995Val) c.2027A>T (p.Asp676Val) c.2018A>T (p.Asp673Val) | |
| 5 | g.37001059T>A | CA359519452 | NIPBL | c.3645T>A (p.Asp1215Glu) c.1-63519T>A (n.1-63519T>A) c.2901T>A (p.Asp967Glu) c.3447T>A (p.Asp1149Glu) c.3264T>A (p.Asp1088Glu) c.2985T>A (p.Asp995Glu) c.2028T>A (p.Asp676Glu) c.2019T>A (p.Asp673Glu) | |
| 5 | g.37001059T>C | CA443904580 | NIPBL | c.3645T>C (p.Asp1215=) c.1-63519T>C (n.1-63519T>C) c.2901T>C (p.Asp967=) c.3447T>C (p.Asp1149=) c.3264T>C (p.Asp1088=) c.2985T>C (p.Asp995=) c.2028T>C (p.Asp676=) c.2019T>C (p.Asp673=) | |
| 5 | g.37001059T>G | CA359519455 | NIPBL | c.3645T>G (p.Asp1215Glu) c.1-63519T>G (n.1-63519T>G) c.2901T>G (p.Asp967Glu) c.3447T>G (p.Asp1149Glu) c.3264T>G (p.Asp1088Glu) c.2985T>G (p.Asp995Glu) c.2028T>G (p.Asp676Glu) c.2019T>G (p.Asp673Glu) | |
| 5 | g.37001060A>C | CA359519475 | NIPBL | c.3646A>C (p.Met1216Leu) c.1-63518A>C (n.1-63518A>C) c.2902A>C (p.Met968Leu) c.3448A>C (p.Met1150Leu) c.3265A>C (p.Met1089Leu) c.2986A>C (p.Met996Leu) c.2029A>C (p.Met677Leu) c.2020A>C (p.Met674Leu) | |
| 5 | g.37001060A>G | CA359519473 | NIPBL | c.3646A>G (p.Met1216Val) c.1-63518A>G (n.1-63518A>G) c.2902A>G (p.Met968Val) c.3448A>G (p.Met1150Val) c.3265A>G (p.Met1089Val) c.2986A>G (p.Met996Val) c.2029A>G (p.Met677Val) c.2020A>G (p.Met674Val) | gnomAD v4 |
| 5 | g.37001060A>T | CA359519464 | NIPBL | c.3646A>T (p.Met1216Leu) c.1-63518A>T (n.1-63518A>T) c.2902A>T (p.Met968Leu) c.3448A>T (p.Met1150Leu) c.3265A>T (p.Met1089Leu) c.2986A>T (p.Met996Leu) c.2029A>T (p.Met677Leu) c.2020A>T (p.Met674Leu) | |
| 5 | g.37001060dup | CA2697547120 | NIPBL | c.3646dup (p.Met1216AsnfsTer8) c.1-63518dup (n.1-63518dup) c.2902dup (p.Met968AsnfsTer8) c.3448dup (p.Met1150AsnfsTer8) c.3265dup (p.Met1089AsnfsTer8) c.2986dup (p.Met996AsnfsTer8) c.2029dup (p.Met677AsnfsTer8) c.2020dup (p.Met674AsnfsTer8) | ClinVar |
| 5 | g.37001061T>A | CA359519497 | NIPBL | c.3647T>A (p.Met1216Lys) c.1-63517T>A (n.1-63517T>A) c.2903T>A (p.Met968Lys) c.3449T>A (p.Met1150Lys) c.3266T>A (p.Met1089Lys) c.2987T>A (p.Met996Lys) c.2030T>A (p.Met677Lys) c.2021T>A (p.Met674Lys) | |
| 5 | g.37001061T>C | CA3236393 | NIPBL | c.3647T>C (p.Met1216Thr) c.1-63517T>C (n.1-63517T>C) c.2903T>C (p.Met968Thr) c.3449T>C (p.Met1150Thr) c.3266T>C (p.Met1089Thr) c.2987T>C (p.Met996Thr) c.2030T>C (p.Met677Thr) c.2021T>C (p.Met674Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37001061T>G | CA359519500 | NIPBL | c.3647T>G (p.Met1216Arg) c.1-63517T>G (n.1-63517T>G) c.2903T>G (p.Met968Arg) c.3449T>G (p.Met1150Arg) c.3266T>G (p.Met1089Arg) c.2987T>G (p.Met996Arg) c.2030T>G (p.Met677Arg) c.2021T>G (p.Met674Arg) | |
| 5 | g.37001061T= | CA1539601627 | NIPBL | c.3647T= (p.Met1216=) c.1-63517T= (n.1-63517T=) c.2903T= (p.Met968=) c.3449T= (p.Met1150=) c.3266T= (p.Met1089=) c.2987T= (p.Met996=) c.2030T= (p.Met677=) c.2021T= (p.Met674=) | |
| 5 | g.37001062G>A | CA359519504 | NIPBL | c.3648G>A (p.Met1216Ile) c.1-63516G>A (n.1-63516G>A) c.2904G>A (p.Met968Ile) c.3450G>A (p.Met1150Ile) c.3267G>A (p.Met1089Ile) c.2988G>A (p.Met996Ile) c.2031G>A (p.Met677Ile) c.2022G>A (p.Met674Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37001062G>C | CA359519514 | NIPBL | c.3648G>C (p.Met1216Ile) c.1-63516G>C (n.1-63516G>C) c.2904G>C (p.Met968Ile) c.3450G>C (p.Met1150Ile) c.3267G>C (p.Met1089Ile) c.2988G>C (p.Met996Ile) c.2031G>C (p.Met677Ile) c.2022G>C (p.Met674Ile) | |
| 5 | g.37001062G= | CA1539601632 | NIPBL | c.3648G= (p.Met1216=) c.1-63516G= (n.1-63516G=) c.2904G= (p.Met968=) c.3450G= (p.Met1150=) c.3267G= (p.Met1089=) c.2988G= (p.Met996=) c.2031G= (p.Met677=) c.2022G= (p.Met674=) | |
| 5 | g.37001062G>T | CA359519509 | NIPBL | c.3648G>T (p.Met1216Ile) c.1-63516G>T (n.1-63516G>T) c.2904G>T (p.Met968Ile) c.3450G>T (p.Met1150Ile) c.3267G>T (p.Met1089Ile) c.2988G>T (p.Met996Ile) c.2031G>T (p.Met677Ile) c.2022G>T (p.Met674Ile) | |
| 5 | g.37001063G>A | CA359519517 | NIPBL | c.3649G>A (p.Asp1217Asn) c.1-63515G>A (n.1-63515G>A) c.2905G>A (p.Asp969Asn) c.3451G>A (p.Asp1151Asn) c.3268G>A (p.Asp1090Asn) c.2989G>A (p.Asp997Asn) c.2032G>A (p.Asp678Asn) c.2023G>A (p.Asp675Asn) | ClinVar gnomAD v4 |
| 5 | g.37001063G>C | CA359519521 | NIPBL | c.3649G>C (p.Asp1217His) c.1-63515G>C (n.1-63515G>C) c.2905G>C (p.Asp969His) c.3451G>C (p.Asp1151His) c.3268G>C (p.Asp1090His) c.2989G>C (p.Asp997His) c.2032G>C (p.Asp678His) c.2023G>C (p.Asp675His) | |
| 5 | g.37001063G= | CA1539601638 | NIPBL | c.3649G= (p.Asp1217=) c.1-63515G= (n.1-63515G=) c.2905G= (p.Asp969=) c.3451G= (p.Asp1151=) c.3268G= (p.Asp1090=) c.2989G= (p.Asp997=) c.2032G= (p.Asp678=) c.2023G= (p.Asp675=) | |
| 5 | g.37001063G>T | CA359519520 | NIPBL | c.3649G>T (p.Asp1217Tyr) c.1-63515G>T (n.1-63515G>T) c.2905G>T (p.Asp969Tyr) c.3451G>T (p.Asp1151Tyr) c.3268G>T (p.Asp1090Tyr) c.2989G>T (p.Asp997Tyr) c.2032G>T (p.Asp678Tyr) c.2023G>T (p.Asp675Tyr) | dbSNP |
| 5 | g.37001064A>C | CA359519523 | NIPBL | c.3650A>C (p.Asp1217Ala) c.1-63514A>C (n.1-63514A>C) c.2906A>C (p.Asp969Ala) c.3452A>C (p.Asp1151Ala) c.3269A>C (p.Asp1090Ala) c.2990A>C (p.Asp997Ala) c.2033A>C (p.Asp678Ala) c.2024A>C (p.Asp675Ala) | |
| 5 | g.37001064A>G | CA359519524 | NIPBL | c.3650A>G (p.Asp1217Gly) c.1-63514A>G (n.1-63514A>G) c.2906A>G (p.Asp969Gly) c.3452A>G (p.Asp1151Gly) c.3269A>G (p.Asp1090Gly) c.2990A>G (p.Asp997Gly) c.2033A>G (p.Asp678Gly) c.2024A>G (p.Asp675Gly) | |
| 5 | g.37001064A>T | CA359519525 | NIPBL | c.3650A>T (p.Asp1217Val) c.1-63514A>T (n.1-63514A>T) c.2906A>T (p.Asp969Val) c.3452A>T (p.Asp1151Val) c.3269A>T (p.Asp1090Val) c.2990A>T (p.Asp997Val) c.2033A>T (p.Asp678Val) c.2024A>T (p.Asp675Val) | |
| 5 | g.37001065T>A | CA359519528 | NIPBL | c.3651T>A (p.Asp1217Glu) c.1-63513T>A (n.1-63513T>A) c.2907T>A (p.Asp969Glu) c.3453T>A (p.Asp1151Glu) c.3270T>A (p.Asp1090Glu) c.2991T>A (p.Asp997Glu) c.2034T>A (p.Asp678Glu) c.2025T>A (p.Asp675Glu) | |
| 5 | g.37001065T>C | CA443904581 | NIPBL | c.3651T>C (p.Asp1217=) c.1-63513T>C (n.1-63513T>C) c.2907T>C (p.Asp969=) c.3453T>C (p.Asp1151=) c.3270T>C (p.Asp1090=) c.2991T>C (p.Asp997=) c.2034T>C (p.Asp678=) c.2025T>C (p.Asp675=) | |
| 5 | g.37001065T>G | CA359519533 | NIPBL | c.3651T>G (p.Asp1217Glu) c.1-63513T>G (n.1-63513T>G) c.2907T>G (p.Asp969Glu) c.3453T>G (p.Asp1151Glu) c.3270T>G (p.Asp1090Glu) c.2991T>G (p.Asp997Glu) c.2034T>G (p.Asp678Glu) c.2025T>G (p.Asp675Glu) | |
| 5 | g.37001066T>A | CA359519536 | NIPBL | c.3652T>A (p.Phe1218Ile) c.1-63512T>A (n.1-63512T>A) c.2908T>A (p.Phe970Ile) c.3454T>A (p.Phe1152Ile) c.3271T>A (p.Phe1091Ile) c.2992T>A (p.Phe998Ile) c.2035T>A (p.Phe679Ile) c.2026T>A (p.Phe676Ile) | |
| 5 | g.37001066T>C | CA359519539 | NIPBL | c.3652T>C (p.Phe1218Leu) c.1-63512T>C (n.1-63512T>C) c.2908T>C (p.Phe970Leu) c.3454T>C (p.Phe1152Leu) c.3271T>C (p.Phe1091Leu) c.2992T>C (p.Phe998Leu) c.2035T>C (p.Phe679Leu) c.2026T>C (p.Phe676Leu) | |
| 5 | g.37001066T>G | CA359519542 | NIPBL | c.3652T>G (p.Phe1218Val) c.1-63512T>G (n.1-63512T>G) c.2908T>G (p.Phe970Val) c.3454T>G (p.Phe1152Val) c.3271T>G (p.Phe1091Val) c.2992T>G (p.Phe998Val) c.2035T>G (p.Phe679Val) c.2026T>G (p.Phe676Val) | |
| 5 | g.37001067T>A | CA359519543 | NIPBL | c.3653T>A (p.Phe1218Tyr) c.1-63511T>A (n.1-63511T>A) c.2909T>A (p.Phe970Tyr) c.3455T>A (p.Phe1152Tyr) c.3272T>A (p.Phe1091Tyr) c.2993T>A (p.Phe998Tyr) c.2036T>A (p.Phe679Tyr) c.2027T>A (p.Phe676Tyr) | |
| 5 | g.37001067T>C | CA359519544 | NIPBL | c.3653T>C (p.Phe1218Ser) c.1-63511T>C (n.1-63511T>C) c.2909T>C (p.Phe970Ser) c.3455T>C (p.Phe1152Ser) c.3272T>C (p.Phe1091Ser) c.2993T>C (p.Phe998Ser) c.2036T>C (p.Phe679Ser) c.2027T>C (p.Phe676Ser) | |
| 5 | g.37001067T>G | CA359519545 | NIPBL | c.3653T>G (p.Phe1218Cys) c.1-63511T>G (n.1-63511T>G) c.2909T>G (p.Phe970Cys) c.3455T>G (p.Phe1152Cys) c.3272T>G (p.Phe1091Cys) c.2993T>G (p.Phe998Cys) c.2036T>G (p.Phe679Cys) c.2027T>G (p.Phe676Cys) | |
| 5 | g.37001068T>A | CA359519547 | NIPBL | c.3654T>A (p.Phe1218Leu) c.1-63510T>A (n.1-63510T>A) c.2910T>A (p.Phe970Leu) c.3456T>A (p.Phe1152Leu) c.3273T>A (p.Phe1091Leu) c.2994T>A (p.Phe998Leu) c.2037T>A (p.Phe679Leu) c.2028T>A (p.Phe676Leu) | |
| 5 | g.37001068T>C | CA443904582 | NIPBL | c.3654T>C (p.Phe1218=) c.1-63510T>C (n.1-63510T>C) c.2910T>C (p.Phe970=) c.3456T>C (p.Phe1152=) c.3273T>C (p.Phe1091=) c.2994T>C (p.Phe998=) c.2037T>C (p.Phe679=) c.2028T>C (p.Phe676=) | gnomAD v4 |
| 5 | g.37001068T>G | CA359519548 | NIPBL | c.3654T>G (p.Phe1218Leu) c.1-63510T>G (n.1-63510T>G) c.2910T>G (p.Phe970Leu) c.3456T>G (p.Phe1152Leu) c.3273T>G (p.Phe1091Leu) c.2994T>G (p.Phe998Leu) c.2037T>G (p.Phe679Leu) c.2028T>G (p.Phe676Leu) | |
| 5 | g.37001069A>C | CA359519549 | NIPBL | c.3655A>C (p.Thr1219Pro) c.1-63509A>C (n.1-63509A>C) c.2911A>C (p.Thr971Pro) c.3457A>C (p.Thr1153Pro) c.3274A>C (p.Thr1092Pro) c.2995A>C (p.Thr999Pro) c.2038A>C (p.Thr680Pro) c.2029A>C (p.Thr677Pro) | |
| 5 | g.37001069A>G | CA359519551 | NIPBL | c.3655A>G (p.Thr1219Ala) c.1-63509A>G (n.1-63509A>G) c.2911A>G (p.Thr971Ala) c.3457A>G (p.Thr1153Ala) c.3274A>G (p.Thr1092Ala) c.2995A>G (p.Thr999Ala) c.2038A>G (p.Thr680Ala) c.2029A>G (p.Thr677Ala) | |
| 5 | g.37001069A>T | CA359519550 | NIPBL | c.3655A>T (p.Thr1219Ser) c.1-63509A>T (n.1-63509A>T) c.2911A>T (p.Thr971Ser) c.3457A>T (p.Thr1153Ser) c.3274A>T (p.Thr1092Ser) c.2995A>T (p.Thr999Ser) c.2038A>T (p.Thr680Ser) c.2029A>T (p.Thr677Ser) | |
| 5 | g.37001070C>A | CA359519555 | NIPBL | c.3656C>A (p.Thr1219Asn) c.1-63508C>A (n.1-63508C>A) c.2912C>A (p.Thr971Asn) c.3458C>A (p.Thr1153Asn) c.3275C>A (p.Thr1092Asn) c.2996C>A (p.Thr999Asn) c.2039C>A (p.Thr680Asn) c.2030C>A (p.Thr677Asn) | |
| 5 | g.37001070C>G | CA359519562 | NIPBL | c.3656C>G (p.Thr1219Ser) c.1-63508C>G (n.1-63508C>G) c.2912C>G (p.Thr971Ser) c.3458C>G (p.Thr1153Ser) c.3275C>G (p.Thr1092Ser) c.2996C>G (p.Thr999Ser) c.2039C>G (p.Thr680Ser) c.2030C>G (p.Thr677Ser) | |
| 5 | g.37001070C>T | CA359519565 | NIPBL | c.3656C>T (p.Thr1219Ile) c.1-63508C>T (n.1-63508C>T) c.2912C>T (p.Thr971Ile) c.3458C>T (p.Thr1153Ile) c.3275C>T (p.Thr1092Ile) c.2996C>T (p.Thr999Ile) c.2039C>T (p.Thr680Ile) c.2030C>T (p.Thr677Ile) | ClinVar |
| 5 | g.37001071T>A | CA443904583 | NIPBL | c.3657T>A (p.Thr1219=) c.1-63507T>A (n.1-63507T>A) c.2913T>A (p.Thr971=) c.3459T>A (p.Thr1153=) c.3276T>A (p.Thr1092=) c.2997T>A (p.Thr999=) c.2040T>A (p.Thr680=) c.2031T>A (p.Thr677=) | gnomAD v4 |
| 5 | g.37001071T>C | CA443904584 | NIPBL | c.3657T>C (p.Thr1219=) c.1-63507T>C (n.1-63507T>C) c.2913T>C (p.Thr971=) c.3459T>C (p.Thr1153=) c.3276T>C (p.Thr1092=) c.2997T>C (p.Thr999=) c.2040T>C (p.Thr680=) c.2031T>C (p.Thr677=) | gnomAD v4 |
| 5 | g.37001071T>G | CA443904585 | NIPBL | c.3657T>G (p.Thr1219=) c.1-63507T>G (n.1-63507T>G) c.2913T>G (p.Thr971=) c.3459T>G (p.Thr1153=) c.3276T>G (p.Thr1092=) c.2997T>G (p.Thr999=) c.2040T>G (p.Thr680=) c.2031T>G (p.Thr677=) | |
| 5 | g.37001072G>A | CA359519570 | NIPBL | c.3658G>A (p.Ala1220Thr) c.1-63506G>A (n.1-63506G>A) c.2914G>A (p.Ala972Thr) c.3460G>A (p.Ala1154Thr) c.3277G>A (p.Ala1093Thr) c.2998G>A (p.Ala1000Thr) c.2041G>A (p.Ala681Thr) c.2032G>A (p.Ala678Thr) | |
| 5 | g.37001072G>C | CA359519573 | NIPBL | c.3658G>C (p.Ala1220Pro) c.1-63506G>C (n.1-63506G>C) c.2914G>C (p.Ala972Pro) c.3460G>C (p.Ala1154Pro) c.3277G>C (p.Ala1093Pro) c.2998G>C (p.Ala1000Pro) c.2041G>C (p.Ala681Pro) c.2032G>C (p.Ala678Pro) | |
| 5 | g.37001072G>T | CA359519575 | NIPBL | c.3658G>T (p.Ala1220Ser) c.1-63506G>T (n.1-63506G>T) c.2914G>T (p.Ala972Ser) c.3460G>T (p.Ala1154Ser) c.3277G>T (p.Ala1093Ser) c.2998G>T (p.Ala1000Ser) c.2041G>T (p.Ala681Ser) c.2032G>T (p.Ala678Ser) |