Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.37038586_37038590delinsCTGTT | CA1539611462 | NIPBL | c.5972-16_5972-12delinsCTGTT (n.5972-16_5972-12delinsCTGTT) c.1-25992_1-25988delinsCTGTT (n.1-25992_1-25988delinsCTGTT) c.5228-16_5228-12delinsCTGTT (n.5228-16_5228-12delinsCTGTT) c.5774-16_5774-12delinsCTGTT (n.5774-16_5774-12delinsCTGTT) c.5591-16_5591-12delinsCTGTT (n.5591-16_5591-12delinsCTGTT) c.5312-16_5312-12delinsCTGTT (n.5312-16_5312-12delinsCTGTT) c.4355-16_4355-12delinsCTGTT (n.4355-16_4355-12delinsCTGTT) c.4346-16_4346-12delinsCTGTT (n.4346-16_4346-12delinsCTGTT) | |
5 | g.37038588_37038589del | CA2673577260 | NIPBL | c.5972-14_5972-13del (n.5972-14_5972-13del) c.1-25990_1-25989del (n.1-25990_1-25989del) c.5228-14_5228-13del (n.5228-14_5228-13del) c.5774-14_5774-13del (n.5774-14_5774-13del) c.5591-14_5591-13del (n.5591-14_5591-13del) c.5312-14_5312-13del (n.5312-14_5312-13del) c.4355-14_4355-13del (n.4355-14_4355-13del) c.4346-14_4346-13del (n.4346-14_4346-13del) | gnomAD v4 |
5 | g.37038592_37038595del | CA3236915 | NIPBL | c.5972-10_5972-7del (n.5972-10_5972-7del) c.1-25986_1-25983del (n.1-25986_1-25983del) c.5228-10_5228-7del (n.5228-10_5228-7del) c.5774-10_5774-7del (n.5774-10_5774-7del) c.5591-10_5591-7del (n.5591-10_5591-7del) c.5312-10_5312-7del (n.5312-10_5312-7del) c.4355-10_4355-7del (n.4355-10_4355-7del) c.4346-10_4346-7del (n.4346-10_4346-7del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37038588G>C | CA3236916 | NIPBL | c.5972-14G>C (n.5972-14G>C) c.1-25990G>C (n.1-25990G>C) c.5228-14G>C (n.5228-14G>C) c.5774-14G>C (n.5774-14G>C) c.5591-14G>C (n.5591-14G>C) c.5312-14G>C (n.5312-14G>C) c.4355-14G>C (n.4355-14G>C) c.4346-14G>C (n.4346-14G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37038588G= | CA1539611465 | NIPBL | c.5972-14G= (n.5972-14G=) c.1-25990G= (n.1-25990G=) c.5228-14G= (n.5228-14G=) c.5774-14G= (n.5774-14G=) c.5591-14G= (n.5591-14G=) c.5312-14G= (n.5312-14G=) c.4355-14G= (n.4355-14G=) c.4346-14G= (n.4346-14G=) | |
5 | g.37038592G>A | CA559020410 | NIPBL | c.5972-10G>A (n.5972-10G>A) c.1-25986G>A (n.1-25986G>A) c.5228-10G>A (n.5228-10G>A) c.5774-10G>A (n.5774-10G>A) c.5591-10G>A (n.5591-10G>A) c.5312-10G>A (n.5312-10G>A) c.4355-10G>A (n.4355-10G>A) c.4346-10G>A (n.4346-10G>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37038592G= | CA1539611466 | NIPBL | c.5972-10G= (n.5972-10G=) c.1-25986G= (n.1-25986G=) c.5228-10G= (n.5228-10G=) c.5774-10G= (n.5774-10G=) c.5591-10G= (n.5591-10G=) c.5312-10G= (n.5312-10G=) c.4355-10G= (n.4355-10G=) c.4346-10G= (n.4346-10G=) | |
5 | g.37038593T>A | CA2673577264 | NIPBL | c.5972-9T>A (n.5972-9T>A) c.1-25985T>A (n.1-25985T>A) c.5228-9T>A (n.5228-9T>A) c.5774-9T>A (n.5774-9T>A) c.5591-9T>A (n.5591-9T>A) c.5312-9T>A (n.5312-9T>A) c.4355-9T>A (n.4355-9T>A) c.4346-9T>A (n.4346-9T>A) | gnomAD v4 |
5 | g.37038593T>G | CA2673577265 | NIPBL | c.5972-9T>G (n.5972-9T>G) c.1-25985T>G (n.1-25985T>G) c.5228-9T>G (n.5228-9T>G) c.5774-9T>G (n.5774-9T>G) c.5591-9T>G (n.5591-9T>G) c.5312-9T>G (n.5312-9T>G) c.4355-9T>G (n.4355-9T>G) c.4346-9T>G (n.4346-9T>G) | gnomAD v4 |
5 | g.37038597dup | CA443905776 | NIPBL | c.5972-5dup (n.5972-5dup) c.1-25981dup (n.1-25981dup) c.5228-5dup (n.5228-5dup) c.5774-5dup (n.5774-5dup) c.5591-5dup (n.5591-5dup) c.5312-5dup (n.5312-5dup) c.4355-5dup (n.4355-5dup) c.4346-5dup (n.4346-5dup) | COSMIC COSMIC |
5 | g.37038597T>C | CA2765910646 | NIPBL | c.5972-5T>C (n.5972-5T>C) c.1-25981T>C (n.1-25981T>C) c.5228-5T>C (n.5228-5T>C) c.5774-5T>C (n.5774-5T>C) c.5591-5T>C (n.5591-5T>C) c.5312-5T>C (n.5312-5T>C) c.4355-5T>C (n.4355-5T>C) c.4346-5T>C (n.4346-5T>C) | |
5 | g.37038598C= | CA1539611467 | NIPBL | c.5972-4C= (n.5972-4C=) c.1-25980C= (n.1-25980C=) c.5228-4C= (n.5228-4C=) c.5774-4C= (n.5774-4C=) c.5591-4C= (n.5591-4C=) c.5312-4C= (n.5312-4C=) c.4355-4C= (n.4355-4C=) c.4346-4C= (n.4346-4C=) | |
5 | g.37038598C>T | CA3236917 | NIPBL | c.5972-4C>T (n.5972-4C>T) c.1-25980C>T (n.1-25980C>T) c.5228-4C>T (n.5228-4C>T) c.5774-4C>T (n.5774-4C>T) c.5591-4C>T (n.5591-4C>T) c.5312-4C>T (n.5312-4C>T) c.4355-4C>T (n.4355-4C>T) c.4346-4C>T (n.4346-4C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37038599C>T | CA2765910647 | NIPBL | c.5972-3C>T (n.5972-3C>T) c.1-25979C>T (n.1-25979C>T) c.5228-3C>T (n.5228-3C>T) c.5774-3C>T (n.5774-3C>T) c.5591-3C>T (n.5591-3C>T) c.5312-3C>T (n.5312-3C>T) c.4355-3C>T (n.4355-3C>T) c.4346-3C>T (n.4346-3C>T) | |
5 | g.37038600A>C | CA359497725 | NIPBL | c.5972-2A>C (n.5972-2A>C) c.1-25978A>C (n.1-25978A>C) c.5228-2A>C (n.5228-2A>C) c.5774-2A>C (n.5774-2A>C) c.5591-2A>C (n.5591-2A>C) c.5312-2A>C (n.5312-2A>C) c.4355-2A>C (n.4355-2A>C) c.4346-2A>C (n.4346-2A>C) | |
5 | g.37038600A>G | CA359497715 | NIPBL | c.5972-2A>G (n.5972-2A>G) c.1-25978A>G (n.1-25978A>G) c.5228-2A>G (n.5228-2A>G) c.5774-2A>G (n.5774-2A>G) c.5591-2A>G (n.5591-2A>G) c.5312-2A>G (n.5312-2A>G) c.4355-2A>G (n.4355-2A>G) c.4346-2A>G (n.4346-2A>G) | |
5 | g.37038600A>T | CA359497722 | NIPBL | c.5972-2A>T (n.5972-2A>T) c.1-25978A>T (n.1-25978A>T) c.5228-2A>T (n.5228-2A>T) c.5774-2A>T (n.5774-2A>T) c.5591-2A>T (n.5591-2A>T) c.5312-2A>T (n.5312-2A>T) c.4355-2A>T (n.4355-2A>T) c.4346-2A>T (n.4346-2A>T) | |
5 | g.37038601G>A | CA359497728 | NIPBL | c.5972-1G>A (n.5972-1G>A) c.1-25977G>A (n.1-25977G>A) c.5228-1G>A (n.5228-1G>A) c.5774-1G>A (n.5774-1G>A) c.5591-1G>A (n.5591-1G>A) c.5312-1G>A (n.5312-1G>A) c.4355-1G>A (n.4355-1G>A) c.4346-1G>A (n.4346-1G>A) | |
5 | g.37038601G>C | CA359497730 | NIPBL | c.5972-1G>C (n.5972-1G>C) c.1-25977G>C (n.1-25977G>C) c.5228-1G>C (n.5228-1G>C) c.5774-1G>C (n.5774-1G>C) c.5591-1G>C (n.5591-1G>C) c.5312-1G>C (n.5312-1G>C) c.4355-1G>C (n.4355-1G>C) c.4346-1G>C (n.4346-1G>C) | ClinVar |
5 | g.37038601G>T | CA359497733 | NIPBL | c.5972-1G>T (n.5972-1G>T) c.1-25977G>T (n.1-25977G>T) c.5228-1G>T (n.5228-1G>T) c.5774-1G>T (n.5774-1G>T) c.5591-1G>T (n.5591-1G>T) c.5312-1G>T (n.5312-1G>T) c.4355-1G>T (n.4355-1G>T) c.4346-1G>T (n.4346-1G>T) | |
5 | g.37038602A>C | CA359497737 | NIPBL | c.5972A>C (p.Asp1991Ala) c.1-25976A>C (n.1-25976A>C) c.5228A>C (p.Asp1743Ala) c.5774A>C (p.Asp1925Ala) c.5591A>C (p.Asp1864Ala) c.5312A>C (p.Asp1771Ala) c.4355A>C (p.Asp1452Ala) c.4346A>C (p.Asp1449Ala) | |
5 | g.37038602A>G | CA359497738 | NIPBL | c.5972A>G (p.Asp1991Gly) c.1-25976A>G (n.1-25976A>G) c.5228A>G (p.Asp1743Gly) c.5774A>G (p.Asp1925Gly) c.5591A>G (p.Asp1864Gly) c.5312A>G (p.Asp1771Gly) c.4355A>G (p.Asp1452Gly) c.4346A>G (p.Asp1449Gly) | |
5 | g.37038602A>T | CA359497742 | NIPBL | c.5972A>T (p.Asp1991Val) c.1-25976A>T (n.1-25976A>T) c.5228A>T (p.Asp1743Val) c.5774A>T (p.Asp1925Val) c.5591A>T (p.Asp1864Val) c.5312A>T (p.Asp1771Val) c.4355A>T (p.Asp1452Val) c.4346A>T (p.Asp1449Val) | |
5 | g.37038603C>A | CA359497746 | NIPBL | c.5973C>A (p.Asp1991Glu) c.1-25975C>A (n.1-25975C>A) c.5229C>A (p.Asp1743Glu) c.5775C>A (p.Asp1925Glu) c.5592C>A (p.Asp1864Glu) c.5313C>A (p.Asp1771Glu) c.4356C>A (p.Asp1452Glu) c.4347C>A (p.Asp1449Glu) | |
5 | g.37038603C>G | CA359497750 | NIPBL | c.5973C>G (p.Asp1991Glu) c.1-25975C>G (n.1-25975C>G) c.5229C>G (p.Asp1743Glu) c.5775C>G (p.Asp1925Glu) c.5592C>G (p.Asp1864Glu) c.5313C>G (p.Asp1771Glu) c.4356C>G (p.Asp1452Glu) c.4347C>G (p.Asp1449Glu) | gnomAD v4 |
5 | g.37038603C>T | CA443905777 | NIPBL | c.5973C>T (p.Asp1991=) c.1-25975C>T (n.1-25975C>T) c.5229C>T (p.Asp1743=) c.5775C>T (p.Asp1925=) c.5592C>T (p.Asp1864=) c.5313C>T (p.Asp1771=) c.4356C>T (p.Asp1452=) c.4347C>T (p.Asp1449=) | gnomAD v4 |
5 | g.37038604T>A | CA359497754 | NIPBL | c.5974T>A (p.Ser1992Thr) c.1-25974T>A (n.1-25974T>A) c.5230T>A (p.Ser1744Thr) c.5776T>A (p.Ser1926Thr) c.5593T>A (p.Ser1865Thr) c.5314T>A (p.Ser1772Thr) c.4357T>A (p.Ser1453Thr) c.4348T>A (p.Ser1450Thr) | |
5 | g.37038604T>C | CA359497756 | NIPBL | c.5974T>C (p.Ser1992Pro) c.1-25974T>C (n.1-25974T>C) c.5230T>C (p.Ser1744Pro) c.5776T>C (p.Ser1926Pro) c.5593T>C (p.Ser1865Pro) c.5314T>C (p.Ser1772Pro) c.4357T>C (p.Ser1453Pro) c.4348T>C (p.Ser1450Pro) | |
5 | g.37038604T>G | CA359497759 | NIPBL | c.5974T>G (p.Ser1992Ala) c.1-25974T>G (n.1-25974T>G) c.5230T>G (p.Ser1744Ala) c.5776T>G (p.Ser1926Ala) c.5593T>G (p.Ser1865Ala) c.5314T>G (p.Ser1772Ala) c.4357T>G (p.Ser1453Ala) c.4348T>G (p.Ser1450Ala) | |
5 | g.37038605C>A | CA359497781 | NIPBL | c.5975C>A (p.Ser1992Tyr) c.1-25973C>A (n.1-25973C>A) c.5231C>A (p.Ser1744Tyr) c.5777C>A (p.Ser1926Tyr) c.5594C>A (p.Ser1865Tyr) c.5315C>A (p.Ser1772Tyr) c.4358C>A (p.Ser1453Tyr) c.4349C>A (p.Ser1450Tyr) | |
5 | g.37038605C>G | CA359497762 | NIPBL | c.5975C>G (p.Ser1992Cys) c.1-25973C>G (n.1-25973C>G) c.5231C>G (p.Ser1744Cys) c.5777C>G (p.Ser1926Cys) c.5594C>G (p.Ser1865Cys) c.5315C>G (p.Ser1772Cys) c.4358C>G (p.Ser1453Cys) c.4349C>G (p.Ser1450Cys) | gnomAD v4 |
5 | g.37038605C>T | CA359497766 | NIPBL | c.5975C>T (p.Ser1992Phe) c.1-25973C>T (n.1-25973C>T) c.5231C>T (p.Ser1744Phe) c.5777C>T (p.Ser1926Phe) c.5594C>T (p.Ser1865Phe) c.5315C>T (p.Ser1772Phe) c.4358C>T (p.Ser1453Phe) c.4349C>T (p.Ser1450Phe) | |
5 | g.37038606T>A | CA443905778 | NIPBL | c.5976T>A (p.Ser1992=) c.1-25972T>A (n.1-25972T>A) c.5232T>A (p.Ser1744=) c.5778T>A (p.Ser1926=) c.5595T>A (p.Ser1865=) c.5316T>A (p.Ser1772=) c.4359T>A (p.Ser1453=) c.4350T>A (p.Ser1450=) | dbSNP gnomAD v4 |
5 | g.37038606T>C | CA443905779 | NIPBL | c.5976T>C (p.Ser1992=) c.1-25972T>C (n.1-25972T>C) c.5232T>C (p.Ser1744=) c.5778T>C (p.Ser1926=) c.5595T>C (p.Ser1865=) c.5316T>C (p.Ser1772=) c.4359T>C (p.Ser1453=) c.4350T>C (p.Ser1450=) | gnomAD v4 |
5 | g.37038606T>G | CA443905780 | NIPBL | c.5976T>G (p.Ser1992=) c.1-25972T>G (n.1-25972T>G) c.5232T>G (p.Ser1744=) c.5778T>G (p.Ser1926=) c.5595T>G (p.Ser1865=) c.5316T>G (p.Ser1772=) c.4359T>G (p.Ser1453=) c.4350T>G (p.Ser1450=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37038606T= | CA1539611469 | NIPBL | c.5976T= (p.Ser1992=) c.1-25972T= (n.1-25972T=) c.5232T= (p.Ser1744=) c.5778T= (p.Ser1926=) c.5595T= (p.Ser1865=) c.5316T= (p.Ser1772=) c.4359T= (p.Ser1453=) c.4350T= (p.Ser1450=) | |
5 | g.37038607G>A | CA359497782 | NIPBL | c.5977G>A (p.Asp1993Asn) c.1-25971G>A (n.1-25971G>A) c.5233G>A (p.Asp1745Asn) c.5779G>A (p.Asp1927Asn) c.5596G>A (p.Asp1866Asn) c.5317G>A (p.Asp1773Asn) c.4360G>A (p.Asp1454Asn) c.4351G>A (p.Asp1451Asn) | |
5 | g.37038607G>C | CA359497784 | NIPBL | c.5977G>C (p.Asp1993His) c.1-25971G>C (n.1-25971G>C) c.5233G>C (p.Asp1745His) c.5779G>C (p.Asp1927His) c.5596G>C (p.Asp1866His) c.5317G>C (p.Asp1773His) c.4360G>C (p.Asp1454His) c.4351G>C (p.Asp1451His) | |
5 | g.37038607G>T | CA359497785 | NIPBL | c.5977G>T (p.Asp1993Tyr) c.1-25971G>T (n.1-25971G>T) c.5233G>T (p.Asp1745Tyr) c.5779G>T (p.Asp1927Tyr) c.5596G>T (p.Asp1866Tyr) c.5317G>T (p.Asp1773Tyr) c.4360G>T (p.Asp1454Tyr) c.4351G>T (p.Asp1451Tyr) | |
5 | g.37038608A>C | CA359497788 | NIPBL | c.5978A>C (p.Asp1993Ala) c.1-25970A>C (n.1-25970A>C) c.5234A>C (p.Asp1745Ala) c.5780A>C (p.Asp1927Ala) c.5597A>C (p.Asp1866Ala) c.5318A>C (p.Asp1773Ala) c.4361A>C (p.Asp1454Ala) c.4352A>C (p.Asp1451Ala) | |
5 | g.37038608A>G | CA359497791 | NIPBL | c.5978A>G (p.Asp1993Gly) c.1-25970A>G (n.1-25970A>G) c.5234A>G (p.Asp1745Gly) c.5780A>G (p.Asp1927Gly) c.5597A>G (p.Asp1866Gly) c.5318A>G (p.Asp1773Gly) c.4361A>G (p.Asp1454Gly) c.4352A>G (p.Asp1451Gly) | |
5 | g.37038608A>T | CA359497799 | NIPBL | c.5978A>T (p.Asp1993Val) c.1-25970A>T (n.1-25970A>T) c.5234A>T (p.Asp1745Val) c.5780A>T (p.Asp1927Val) c.5597A>T (p.Asp1866Val) c.5318A>T (p.Asp1773Val) c.4361A>T (p.Asp1454Val) c.4352A>T (p.Asp1451Val) | |
5 | g.37038609C>A | CA359497805 | NIPBL | c.5979C>A (p.Asp1993Glu) c.1-25969C>A (n.1-25969C>A) c.5235C>A (p.Asp1745Glu) c.5781C>A (p.Asp1927Glu) c.5598C>A (p.Asp1866Glu) c.5319C>A (p.Asp1773Glu) c.4362C>A (p.Asp1454Glu) c.4353C>A (p.Asp1451Glu) | |
5 | g.37038609C= | CA1539611470 | NIPBL | c.5979C= (p.Asp1993=) c.1-25969C= (n.1-25969C=) c.5235C= (p.Asp1745=) c.5781C= (p.Asp1927=) c.5598C= (p.Asp1866=) c.5319C= (p.Asp1773=) c.4362C= (p.Asp1454=) c.4353C= (p.Asp1451=) | |
5 | g.37038609C>G | CA359497808 | NIPBL | c.5979C>G (p.Asp1993Glu) c.1-25969C>G (n.1-25969C>G) c.5235C>G (p.Asp1745Glu) c.5781C>G (p.Asp1927Glu) c.5598C>G (p.Asp1866Glu) c.5319C>G (p.Asp1773Glu) c.4362C>G (p.Asp1454Glu) c.4353C>G (p.Asp1451Glu) | gnomAD v4 |
5 | g.37038609C>T | CA117038325 | NIPBL | c.5979C>T (p.Asp1993=) c.1-25969C>T (n.1-25969C>T) c.5235C>T (p.Asp1745=) c.5781C>T (p.Asp1927=) c.5598C>T (p.Asp1866=) c.5319C>T (p.Asp1773=) c.4362C>T (p.Asp1454=) c.4353C>T (p.Asp1451=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37038610A>C | CA359497809 | NIPBL | c.5980A>C (p.Asn1994His) c.1-25968A>C (n.1-25968A>C) c.5236A>C (p.Asn1746His) c.5782A>C (p.Asn1928His) c.5599A>C (p.Asn1867His) c.5320A>C (p.Asn1774His) c.4363A>C (p.Asn1455His) c.4354A>C (p.Asn1452His) | |
5 | g.37038610A>G | CA359497810 | NIPBL | c.5980A>G (p.Asn1994Asp) c.1-25968A>G (n.1-25968A>G) c.5236A>G (p.Asn1746Asp) c.5782A>G (p.Asn1928Asp) c.5599A>G (p.Asn1867Asp) c.5320A>G (p.Asn1774Asp) c.4363A>G (p.Asn1455Asp) c.4354A>G (p.Asn1452Asp) | |
5 | g.37038610A>T | CA359497814 | NIPBL | c.5980A>T (p.Asn1994Tyr) c.1-25968A>T (n.1-25968A>T) c.5236A>T (p.Asn1746Tyr) c.5782A>T (p.Asn1928Tyr) c.5599A>T (p.Asn1867Tyr) c.5320A>T (p.Asn1774Tyr) c.4363A>T (p.Asn1455Tyr) c.4354A>T (p.Asn1452Tyr) | |
5 | g.37038611A= | CA1539611471 | NIPBL | c.5981A= (p.Asn1994=) c.1-25967A= (n.1-25967A=) c.5237A= (p.Asn1746=) c.5783A= (p.Asn1928=) c.5600A= (p.Asn1867=) c.5321A= (p.Asn1774=) c.4364A= (p.Asn1455=) c.4355A= (p.Asn1452=) | |
5 | g.37038611A>C | CA359497822 | NIPBL | c.5981A>C (p.Asn1994Thr) c.1-25967A>C (n.1-25967A>C) c.5237A>C (p.Asn1746Thr) c.5783A>C (p.Asn1928Thr) c.5600A>C (p.Asn1867Thr) c.5321A>C (p.Asn1774Thr) c.4364A>C (p.Asn1455Thr) c.4355A>C (p.Asn1452Thr) | |
5 | g.37038611A>G | CA172733 | NIPBL | c.5981A>G (p.Asn1994Ser) c.1-25967A>G (n.1-25967A>G) c.5237A>G (p.Asn1746Ser) c.5783A>G (p.Asn1928Ser) c.5600A>G (p.Asn1867Ser) c.5321A>G (p.Asn1774Ser) c.4364A>G (p.Asn1455Ser) c.4355A>G (p.Asn1452Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37038611A>T | CA359497817 | NIPBL | c.5981A>T (p.Asn1994Ile) c.1-25967A>T (n.1-25967A>T) c.5237A>T (p.Asn1746Ile) c.5783A>T (p.Asn1928Ile) c.5600A>T (p.Asn1867Ile) c.5321A>T (p.Asn1774Ile) c.4364A>T (p.Asn1455Ile) c.4355A>T (p.Asn1452Ile) | |
5 | g.37038612del | CA2573052505 | NIPBL | c.5982del (p.Asn1994LysfsTer4) c.1-25966del (n.1-25966del) c.5238del (p.Asn1746LysfsTer4) c.5784del (p.Asn1928LysfsTer4) c.5601del (p.Asn1867LysfsTer4) c.5322del (p.Asn1774LysfsTer4) c.4365del (p.Asn1455LysfsTer4) c.4356del (p.Asn1452LysfsTer4) | ClinVar dbSNP |
5 | g.37038612T>A | CA359497837 | NIPBL | c.5982T>A (p.Asn1994Lys) c.1-25966T>A (n.1-25966T>A) c.5238T>A (p.Asn1746Lys) c.5784T>A (p.Asn1928Lys) c.5601T>A (p.Asn1867Lys) c.5322T>A (p.Asn1774Lys) c.4365T>A (p.Asn1455Lys) c.4356T>A (p.Asn1452Lys) | |
5 | g.37038612T>C | CA443905781 | NIPBL | c.5982T>C (p.Asn1994=) c.1-25966T>C (n.1-25966T>C) c.5238T>C (p.Asn1746=) c.5784T>C (p.Asn1928=) c.5601T>C (p.Asn1867=) c.5322T>C (p.Asn1774=) c.4365T>C (p.Asn1455=) c.4356T>C (p.Asn1452=) | |
5 | g.37038612T>G | CA359497826 | NIPBL | c.5982T>G (p.Asn1994Lys) c.1-25966T>G (n.1-25966T>G) c.5238T>G (p.Asn1746Lys) c.5784T>G (p.Asn1928Lys) c.5601T>G (p.Asn1867Lys) c.5322T>G (p.Asn1774Lys) c.4365T>G (p.Asn1455Lys) c.4356T>G (p.Asn1452Lys) | |
5 | g.37038613A>C | CA359497851 | NIPBL | c.5983A>C (p.Lys1995Gln) c.1-25965A>C (n.1-25965A>C) c.5239A>C (p.Lys1747Gln) c.5785A>C (p.Lys1929Gln) c.5602A>C (p.Lys1868Gln) c.5323A>C (p.Lys1775Gln) c.4366A>C (p.Lys1456Gln) c.4357A>C (p.Lys1453Gln) | |
5 | g.37038613A>G | CA359497847 | NIPBL | c.5983A>G (p.Lys1995Glu) c.1-25965A>G (n.1-25965A>G) c.5239A>G (p.Lys1747Glu) c.5785A>G (p.Lys1929Glu) c.5602A>G (p.Lys1868Glu) c.5323A>G (p.Lys1775Glu) c.4366A>G (p.Lys1456Glu) c.4357A>G (p.Lys1453Glu) | |
5 | g.37038613A>T | CA359497849 | NIPBL | c.5983A>T (p.Lys1995Ter) c.1-25965A>T (n.1-25965A>T) c.5239A>T (p.Lys1747Ter) c.5785A>T (p.Lys1929Ter) c.5602A>T (p.Lys1868Ter) c.5323A>T (p.Lys1775Ter) c.4366A>T (p.Lys1456Ter) c.4357A>T (p.Lys1453Ter) | |
5 | g.37038614A>C | CA359497857 | NIPBL | c.5984A>C (p.Lys1995Thr) c.1-25964A>C (n.1-25964A>C) c.5240A>C (p.Lys1747Thr) c.5786A>C (p.Lys1929Thr) c.5603A>C (p.Lys1868Thr) c.5324A>C (p.Lys1775Thr) c.4367A>C (p.Lys1456Thr) c.4358A>C (p.Lys1453Thr) | |
5 | g.37038614A>G | CA359497861 | NIPBL | c.5984A>G (p.Lys1995Arg) c.1-25964A>G (n.1-25964A>G) c.5240A>G (p.Lys1747Arg) c.5786A>G (p.Lys1929Arg) c.5603A>G (p.Lys1868Arg) c.5324A>G (p.Lys1775Arg) c.4367A>G (p.Lys1456Arg) c.4358A>G (p.Lys1453Arg) | |
5 | g.37038614A>T | CA359497862 | NIPBL | c.5984A>T (p.Lys1995Ile) c.1-25964A>T (n.1-25964A>T) c.5240A>T (p.Lys1747Ile) c.5786A>T (p.Lys1929Ile) c.5603A>T (p.Lys1868Ile) c.5324A>T (p.Lys1775Ile) c.4367A>T (p.Lys1456Ile) c.4358A>T (p.Lys1453Ile) | |
5 | g.37038615A>C | CA359497866 | NIPBL | c.5985A>C (p.Lys1995Asn) c.1-25963A>C (n.1-25963A>C) c.5241A>C (p.Lys1747Asn) c.5787A>C (p.Lys1929Asn) c.5604A>C (p.Lys1868Asn) c.5325A>C (p.Lys1775Asn) c.4368A>C (p.Lys1456Asn) c.4359A>C (p.Lys1453Asn) | |
5 | g.37038615A>G | CA443905782 | NIPBL | c.5985A>G (p.Lys1995=) c.1-25963A>G (n.1-25963A>G) c.5241A>G (p.Lys1747=) c.5787A>G (p.Lys1929=) c.5604A>G (p.Lys1868=) c.5325A>G (p.Lys1775=) c.4368A>G (p.Lys1456=) c.4359A>G (p.Lys1453=) | |
5 | g.37038615A>T | CA359497881 | NIPBL | c.5985A>T (p.Lys1995Asn) c.1-25963A>T (n.1-25963A>T) c.5241A>T (p.Lys1747Asn) c.5787A>T (p.Lys1929Asn) c.5604A>T (p.Lys1868Asn) c.5325A>T (p.Lys1775Asn) c.4368A>T (p.Lys1456Asn) c.4359A>T (p.Lys1453Asn) | |
5 | g.37038616G>A | CA359497888 | NIPBL | c.5986G>A (p.Gly1996Ser) c.1-25962G>A (n.1-25962G>A) c.5242G>A (p.Gly1748Ser) c.5788G>A (p.Gly1930Ser) c.5605G>A (p.Gly1869Ser) c.5326G>A (p.Gly1776Ser) c.4369G>A (p.Gly1457Ser) c.4360G>A (p.Gly1454Ser) | |
5 | g.37038616G>C | CA359497889 | NIPBL | c.5986G>C (p.Gly1996Arg) c.1-25962G>C (n.1-25962G>C) c.5242G>C (p.Gly1748Arg) c.5788G>C (p.Gly1930Arg) c.5605G>C (p.Gly1869Arg) c.5326G>C (p.Gly1776Arg) c.4369G>C (p.Gly1457Arg) c.4360G>C (p.Gly1454Arg) | |
5 | g.37038616G>T | CA359497900 | NIPBL | c.5986G>T (p.Gly1996Cys) c.1-25962G>T (n.1-25962G>T) c.5242G>T (p.Gly1748Cys) c.5788G>T (p.Gly1930Cys) c.5605G>T (p.Gly1869Cys) c.5326G>T (p.Gly1776Cys) c.4369G>T (p.Gly1457Cys) c.4360G>T (p.Gly1454Cys) | |
5 | g.37038617G>A | CA359497901 | NIPBL | c.5987G>A (p.Gly1996Asp) c.1-25961G>A (n.1-25961G>A) c.5243G>A (p.Gly1748Asp) c.5789G>A (p.Gly1930Asp) c.5606G>A (p.Gly1869Asp) c.5327G>A (p.Gly1776Asp) c.4370G>A (p.Gly1457Asp) c.4361G>A (p.Gly1454Asp) | |
5 | g.37038617G>C | CA359497902 | NIPBL | c.5987G>C (p.Gly1996Ala) c.1-25961G>C (n.1-25961G>C) c.5243G>C (p.Gly1748Ala) c.5789G>C (p.Gly1930Ala) c.5606G>C (p.Gly1869Ala) c.5327G>C (p.Gly1776Ala) c.4370G>C (p.Gly1457Ala) c.4361G>C (p.Gly1454Ala) | |
5 | g.37038617G>T | CA359497903 | NIPBL | c.5987G>T (p.Gly1996Val) c.1-25961G>T (n.1-25961G>T) c.5243G>T (p.Gly1748Val) c.5789G>T (p.Gly1930Val) c.5606G>T (p.Gly1869Val) c.5327G>T (p.Gly1776Val) c.4370G>T (p.Gly1457Val) c.4361G>T (p.Gly1454Val) | |
5 | g.37038618T>A | CA443905783 | NIPBL | c.5988T>A (p.Gly1996=) c.1-25960T>A (n.1-25960T>A) c.5244T>A (p.Gly1748=) c.5790T>A (p.Gly1930=) c.5607T>A (p.Gly1869=) c.5328T>A (p.Gly1776=) c.4371T>A (p.Gly1457=) c.4362T>A (p.Gly1454=) | |
5 | g.37038618T>C | CA443905784 | NIPBL | c.5988T>C (p.Gly1996=) c.1-25960T>C (n.1-25960T>C) c.5244T>C (p.Gly1748=) c.5790T>C (p.Gly1930=) c.5607T>C (p.Gly1869=) c.5328T>C (p.Gly1776=) c.4371T>C (p.Gly1457=) c.4362T>C (p.Gly1454=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37038618T>G | CA443905785 | NIPBL | c.5988T>G (p.Gly1996=) c.1-25960T>G (n.1-25960T>G) c.5244T>G (p.Gly1748=) c.5790T>G (p.Gly1930=) c.5607T>G (p.Gly1869=) c.5328T>G (p.Gly1776=) c.4371T>G (p.Gly1457=) c.4362T>G (p.Gly1454=) | |
5 | g.37038618T= | CA1539611472 | NIPBL | c.5988T= (p.Gly1996=) c.1-25960T= (n.1-25960T=) c.5244T= (p.Gly1748=) c.5790T= (p.Gly1930=) c.5607T= (p.Gly1869=) c.5328T= (p.Gly1776=) c.4371T= (p.Gly1457=) c.4362T= (p.Gly1454=) | |
5 | g.37038619G>A | CA359497907 | NIPBL | c.5989G>A (p.Val1997Met) c.1-25959G>A (n.1-25959G>A) c.5245G>A (p.Val1749Met) c.5791G>A (p.Val1931Met) c.5608G>A (p.Val1870Met) c.5329G>A (p.Val1777Met) c.4372G>A (p.Val1458Met) c.4363G>A (p.Val1455Met) | |
5 | g.37038619G>C | CA359497905 | NIPBL | c.5989G>C (p.Val1997Leu) c.1-25959G>C (n.1-25959G>C) c.5245G>C (p.Val1749Leu) c.5791G>C (p.Val1931Leu) c.5608G>C (p.Val1870Leu) c.5329G>C (p.Val1777Leu) c.4372G>C (p.Val1458Leu) c.4363G>C (p.Val1455Leu) | |
5 | g.37038619G>T | CA359497904 | NIPBL | c.5989G>T (p.Val1997Leu) c.1-25959G>T (n.1-25959G>T) c.5245G>T (p.Val1749Leu) c.5791G>T (p.Val1931Leu) c.5608G>T (p.Val1870Leu) c.5329G>T (p.Val1777Leu) c.4372G>T (p.Val1458Leu) c.4363G>T (p.Val1455Leu) | |
5 | g.37038620T>A | CA359497909 | NIPBL | c.5990T>A (p.Val1997Glu) c.1-25958T>A (n.1-25958T>A) c.5246T>A (p.Val1749Glu) c.5792T>A (p.Val1931Glu) c.5609T>A (p.Val1870Glu) c.5330T>A (p.Val1777Glu) c.4373T>A (p.Val1458Glu) c.4364T>A (p.Val1455Glu) | |
5 | g.37038620T>C | CA359497912 | NIPBL | c.5990T>C (p.Val1997Ala) c.1-25958T>C (n.1-25958T>C) c.5246T>C (p.Val1749Ala) c.5792T>C (p.Val1931Ala) c.5609T>C (p.Val1870Ala) c.5330T>C (p.Val1777Ala) c.4373T>C (p.Val1458Ala) c.4364T>C (p.Val1455Ala) | |
5 | g.37038620T>G | CA359497915 | NIPBL | c.5990T>G (p.Val1997Gly) c.1-25958T>G (n.1-25958T>G) c.5246T>G (p.Val1749Gly) c.5792T>G (p.Val1931Gly) c.5609T>G (p.Val1870Gly) c.5330T>G (p.Val1777Gly) c.4373T>G (p.Val1458Gly) c.4364T>G (p.Val1455Gly) | |
5 | g.37038621G>A | CA443905786 | NIPBL | c.5991G>A (p.Val1997=) c.1-25957G>A (n.1-25957G>A) c.5247G>A (p.Val1749=) c.5793G>A (p.Val1931=) c.5610G>A (p.Val1870=) c.5331G>A (p.Val1777=) c.4374G>A (p.Val1458=) c.4365G>A (p.Val1455=) | |
5 | g.37038621G>C | CA443905788 | NIPBL | c.5991G>C (p.Val1997=) c.1-25957G>C (n.1-25957G>C) c.5247G>C (p.Val1749=) c.5793G>C (p.Val1931=) c.5610G>C (p.Val1870=) c.5331G>C (p.Val1777=) c.4374G>C (p.Val1458=) c.4365G>C (p.Val1455=) | |
5 | g.37038621G>T | CA443905787 | NIPBL | c.5991G>T (p.Val1997=) c.1-25957G>T (n.1-25957G>T) c.5247G>T (p.Val1749=) c.5793G>T (p.Val1931=) c.5610G>T (p.Val1870=) c.5331G>T (p.Val1777=) c.4374G>T (p.Val1458=) c.4365G>T (p.Val1455=) | |
5 | g.37038622A>C | CA359497924 | NIPBL | c.5992A>C (p.Asn1998His) c.1-25956A>C (n.1-25956A>C) c.5248A>C (p.Asn1750His) c.5794A>C (p.Asn1932His) c.5611A>C (p.Asn1871His) c.5332A>C (p.Asn1778His) c.4375A>C (p.Asn1459His) c.4366A>C (p.Asn1456His) | |
5 | g.37038622A>G | CA359497926 | NIPBL | c.5992A>G (p.Asn1998Asp) c.1-25956A>G (n.1-25956A>G) c.5248A>G (p.Asn1750Asp) c.5794A>G (p.Asn1932Asp) c.5611A>G (p.Asn1871Asp) c.5332A>G (p.Asn1778Asp) c.4375A>G (p.Asn1459Asp) c.4366A>G (p.Asn1456Asp) | |
5 | g.37038622A>T | CA359497929 | NIPBL | c.5992A>T (p.Asn1998Tyr) c.1-25956A>T (n.1-25956A>T) c.5248A>T (p.Asn1750Tyr) c.5794A>T (p.Asn1932Tyr) c.5611A>T (p.Asn1871Tyr) c.5332A>T (p.Asn1778Tyr) c.4375A>T (p.Asn1459Tyr) c.4366A>T (p.Asn1456Tyr) | |
5 | g.37038623A>C | CA359497932 | NIPBL | c.5993A>C (p.Asn1998Thr) c.1-25955A>C (n.1-25955A>C) c.5249A>C (p.Asn1750Thr) c.5795A>C (p.Asn1932Thr) c.5612A>C (p.Asn1871Thr) c.5333A>C (p.Asn1778Thr) c.4376A>C (p.Asn1459Thr) c.4367A>C (p.Asn1456Thr) | |
5 | g.37038623A>G | CA359497934 | NIPBL | c.5993A>G (p.Asn1998Ser) c.1-25955A>G (n.1-25955A>G) c.5249A>G (p.Asn1750Ser) c.5795A>G (p.Asn1932Ser) c.5612A>G (p.Asn1871Ser) c.5333A>G (p.Asn1778Ser) c.4376A>G (p.Asn1459Ser) c.4367A>G (p.Asn1456Ser) | |
5 | g.37038623A>T | CA359497937 | NIPBL | c.5993A>T (p.Asn1998Ile) c.1-25955A>T (n.1-25955A>T) c.5249A>T (p.Asn1750Ile) c.5795A>T (p.Asn1932Ile) c.5612A>T (p.Asn1871Ile) c.5333A>T (p.Asn1778Ile) c.4376A>T (p.Asn1459Ile) c.4367A>T (p.Asn1456Ile) | |
5 | g.37038624T>A | CA359497941 | NIPBL | c.5994T>A (p.Asn1998Lys) c.1-25954T>A (n.1-25954T>A) c.5250T>A (p.Asn1750Lys) c.5796T>A (p.Asn1932Lys) c.5613T>A (p.Asn1871Lys) c.5334T>A (p.Asn1778Lys) c.4377T>A (p.Asn1459Lys) c.4368T>A (p.Asn1456Lys) | |
5 | g.37038624T>C | CA443905789 | NIPBL | c.5994T>C (p.Asn1998=) c.1-25954T>C (n.1-25954T>C) c.5250T>C (p.Asn1750=) c.5796T>C (p.Asn1932=) c.5613T>C (p.Asn1871=) c.5334T>C (p.Asn1778=) c.4377T>C (p.Asn1459=) c.4368T>C (p.Asn1456=) | |
5 | g.37038624T>G | CA359497944 | NIPBL | c.5994T>G (p.Asn1998Lys) c.1-25954T>G (n.1-25954T>G) c.5250T>G (p.Asn1750Lys) c.5796T>G (p.Asn1932Lys) c.5613T>G (p.Asn1871Lys) c.5334T>G (p.Asn1778Lys) c.4377T>G (p.Asn1459Lys) c.4368T>G (p.Asn1456Lys) | |
5 | g.37038625T>A | CA359497952 | NIPBL | c.5995T>A (p.Ser1999Thr) c.1-25953T>A (n.1-25953T>A) c.5251T>A (p.Ser1751Thr) c.5797T>A (p.Ser1933Thr) c.5614T>A (p.Ser1872Thr) c.5335T>A (p.Ser1779Thr) c.4378T>A (p.Ser1460Thr) c.4369T>A (p.Ser1457Thr) | |
5 | g.37038625T>C | CA359497955 | NIPBL | c.5995T>C (p.Ser1999Pro) c.1-25953T>C (n.1-25953T>C) c.5251T>C (p.Ser1751Pro) c.5797T>C (p.Ser1933Pro) c.5614T>C (p.Ser1872Pro) c.5335T>C (p.Ser1779Pro) c.4378T>C (p.Ser1460Pro) c.4369T>C (p.Ser1457Pro) | |
5 | g.37038625T>G | CA359497956 | NIPBL | c.5995T>G (p.Ser1999Ala) c.1-25953T>G (n.1-25953T>G) c.5251T>G (p.Ser1751Ala) c.5797T>G (p.Ser1933Ala) c.5614T>G (p.Ser1872Ala) c.5335T>G (p.Ser1779Ala) c.4378T>G (p.Ser1460Ala) c.4369T>G (p.Ser1457Ala) | |
5 | g.37038626C>A | CA359497958 | NIPBL | c.5996C>A (p.Ser1999Tyr) c.1-25952C>A (n.1-25952C>A) c.5252C>A (p.Ser1751Tyr) c.5798C>A (p.Ser1933Tyr) c.5615C>A (p.Ser1872Tyr) c.5336C>A (p.Ser1779Tyr) c.4379C>A (p.Ser1460Tyr) c.4370C>A (p.Ser1457Tyr) | |
5 | g.37038626C>G | CA359497960 | NIPBL | c.5996C>G (p.Ser1999Cys) c.1-25952C>G (n.1-25952C>G) c.5252C>G (p.Ser1751Cys) c.5798C>G (p.Ser1933Cys) c.5615C>G (p.Ser1872Cys) c.5336C>G (p.Ser1779Cys) c.4379C>G (p.Ser1460Cys) c.4370C>G (p.Ser1457Cys) | |
5 | g.37038626C>T | CA359497957 | NIPBL | c.5996C>T (p.Ser1999Phe) c.1-25952C>T (n.1-25952C>T) c.5252C>T (p.Ser1751Phe) c.5798C>T (p.Ser1933Phe) c.5615C>T (p.Ser1872Phe) c.5336C>T (p.Ser1779Phe) c.4379C>T (p.Ser1460Phe) c.4370C>T (p.Ser1457Phe) | |
5 | g.37038627T>A | CA443905790 | NIPBL | c.5997T>A (p.Ser1999=) c.1-25951T>A (n.1-25951T>A) c.5253T>A (p.Ser1751=) c.5799T>A (p.Ser1933=) c.5616T>A (p.Ser1872=) c.5337T>A (p.Ser1779=) c.4380T>A (p.Ser1460=) c.4371T>A (p.Ser1457=) | |
5 | g.37038627T>C | CA443905791 | NIPBL | c.5997T>C (p.Ser1999=) c.1-25951T>C (n.1-25951T>C) c.5253T>C (p.Ser1751=) c.5799T>C (p.Ser1933=) c.5616T>C (p.Ser1872=) c.5337T>C (p.Ser1779=) c.4380T>C (p.Ser1460=) c.4371T>C (p.Ser1457=) | ClinVar dbSNP |
5 | g.37038627T>G | CA443905792 | NIPBL | c.5997T>G (p.Ser1999=) c.1-25951T>G (n.1-25951T>G) c.5253T>G (p.Ser1751=) c.5799T>G (p.Ser1933=) c.5616T>G (p.Ser1872=) c.5337T>G (p.Ser1779=) c.4380T>G (p.Ser1460=) c.4371T>G (p.Ser1457=) | |
5 | g.37038628G>A | CA359497963 | NIPBL | c.5998G>A (p.Gly2000Arg) c.1-25950G>A (n.1-25950G>A) c.5254G>A (p.Gly1752Arg) c.5800G>A (p.Gly1934Arg) c.5617G>A (p.Gly1873Arg) c.5338G>A (p.Gly1780Arg) c.4381G>A (p.Gly1461Arg) c.4372G>A (p.Gly1458Arg) | |
5 | g.37038628G>C | CA359497972 | NIPBL | c.5998G>C (p.Gly2000Arg) c.1-25950G>C (n.1-25950G>C) c.5254G>C (p.Gly1752Arg) c.5800G>C (p.Gly1934Arg) c.5617G>C (p.Gly1873Arg) c.5338G>C (p.Gly1780Arg) c.4381G>C (p.Gly1461Arg) c.4372G>C (p.Gly1458Arg) | |
5 | g.37038628G>T | CA359497974 | NIPBL | c.5998G>T (p.Gly2000Ter) c.1-25950G>T (n.1-25950G>T) c.5254G>T (p.Gly1752Ter) c.5800G>T (p.Gly1934Ter) c.5617G>T (p.Gly1873Ter) c.5338G>T (p.Gly1780Ter) c.4381G>T (p.Gly1461Ter) c.4372G>T (p.Gly1458Ter) | |
5 | g.37038629G>A | CA359497976 | NIPBL | c.5999G>A (p.Gly2000Glu) c.1-25949G>A (n.1-25949G>A) c.5255G>A (p.Gly1752Glu) c.5801G>A (p.Gly1934Glu) c.5618G>A (p.Gly1873Glu) c.5339G>A (p.Gly1780Glu) c.4382G>A (p.Gly1461Glu) c.4373G>A (p.Gly1458Glu) | |
5 | g.37038629G>C | CA359497978 | NIPBL | c.5999G>C (p.Gly2000Ala) c.1-25949G>C (n.1-25949G>C) c.5255G>C (p.Gly1752Ala) c.5801G>C (p.Gly1934Ala) c.5618G>C (p.Gly1873Ala) c.5339G>C (p.Gly1780Ala) c.4382G>C (p.Gly1461Ala) c.4373G>C (p.Gly1458Ala) | |
5 | g.37038629G>T | CA359497980 | NIPBL | c.5999G>T (p.Gly2000Val) c.1-25949G>T (n.1-25949G>T) c.5255G>T (p.Gly1752Val) c.5801G>T (p.Gly1934Val) c.5618G>T (p.Gly1873Val) c.5339G>T (p.Gly1780Val) c.4382G>T (p.Gly1461Val) c.4373G>T (p.Gly1458Val) | |
5 | g.37038630A>C | CA443905794 | NIPBL | c.6000A>C (p.Gly2000=) c.1-25948A>C (n.1-25948A>C) c.5256A>C (p.Gly1752=) c.5802A>C (p.Gly1934=) c.5619A>C (p.Gly1873=) c.5340A>C (p.Gly1780=) c.4383A>C (p.Gly1461=) c.4374A>C (p.Gly1458=) | |
5 | g.37038630A>G | CA443905795 | NIPBL | c.6000A>G (p.Gly2000=) c.1-25948A>G (n.1-25948A>G) c.5256A>G (p.Gly1752=) c.5802A>G (p.Gly1934=) c.5619A>G (p.Gly1873=) c.5340A>G (p.Gly1780=) c.4383A>G (p.Gly1461=) c.4374A>G (p.Gly1458=) | |
5 | g.37038630A>T | CA443905793 | NIPBL | c.6000A>T (p.Gly2000=) c.1-25948A>T (n.1-25948A>T) c.5256A>T (p.Gly1752=) c.5802A>T (p.Gly1934=) c.5619A>T (p.Gly1873=) c.5340A>T (p.Gly1780=) c.4383A>T (p.Gly1461=) c.4374A>T (p.Gly1458=) | |
5 | g.37038631A>C | CA443905796 | NIPBL | c.6001A>C (p.Arg2001=) c.1-25947A>C (n.1-25947A>C) c.5257A>C (p.Arg1753=) c.5803A>C (p.Arg1935=) c.5620A>C (p.Arg1874=) c.5341A>C (p.Arg1781=) c.4384A>C (p.Arg1462=) c.4375A>C (p.Arg1459=) | gnomAD v4 |
5 | g.37038631A>G | CA359497997 | NIPBL | c.6001A>G (p.Arg2001Gly) c.1-25947A>G (n.1-25947A>G) c.5257A>G (p.Arg1753Gly) c.5803A>G (p.Arg1935Gly) c.5620A>G (p.Arg1874Gly) c.5341A>G (p.Arg1781Gly) c.4384A>G (p.Arg1462Gly) c.4375A>G (p.Arg1459Gly) | |
5 | g.37038631A>T | CA359497998 | NIPBL | c.6001A>T (p.Arg2001Ter) c.1-25947A>T (n.1-25947A>T) c.5257A>T (p.Arg1753Ter) c.5803A>T (p.Arg1935Ter) c.5620A>T (p.Arg1874Ter) c.5341A>T (p.Arg1781Ter) c.4384A>T (p.Arg1462Ter) c.4375A>T (p.Arg1459Ter) | |
5 | g.37038632G>A | CA359497999 | NIPBL | c.6002G>A (p.Arg2001Lys) c.1-25946G>A (n.1-25946G>A) c.5258G>A (p.Arg1753Lys) c.5804G>A (p.Arg1935Lys) c.5621G>A (p.Arg1874Lys) c.5342G>A (p.Arg1781Lys) c.4385G>A (p.Arg1462Lys) c.4376G>A (p.Arg1459Lys) | |
5 | g.37038632G>C | CA359498000 | NIPBL | c.6002G>C (p.Arg2001Thr) c.1-25946G>C (n.1-25946G>C) c.5258G>C (p.Arg1753Thr) c.5804G>C (p.Arg1935Thr) c.5621G>C (p.Arg1874Thr) c.5342G>C (p.Arg1781Thr) c.4385G>C (p.Arg1462Thr) c.4376G>C (p.Arg1459Thr) | |
5 | g.37038632G>T | CA359498001 | NIPBL | c.6002G>T (p.Arg2001Ile) c.1-25946G>T (n.1-25946G>T) c.5258G>T (p.Arg1753Ile) c.5804G>T (p.Arg1935Ile) c.5621G>T (p.Arg1874Ile) c.5342G>T (p.Arg1781Ile) c.4385G>T (p.Arg1462Ile) c.4376G>T (p.Arg1459Ile) | gnomAD v4 |
5 | g.37038633A>C | CA359498004 | NIPBL | c.6003A>C (p.Arg2001Ser) c.1-25945A>C (n.1-25945A>C) c.5259A>C (p.Arg1753Ser) c.5805A>C (p.Arg1935Ser) c.5622A>C (p.Arg1874Ser) c.5343A>C (p.Arg1781Ser) c.4386A>C (p.Arg1462Ser) c.4377A>C (p.Arg1459Ser) | |
5 | g.37038633A>G | CA443905797 | NIPBL | c.6003A>G (p.Arg2001=) c.1-25945A>G (n.1-25945A>G) c.5259A>G (p.Arg1753=) c.5805A>G (p.Arg1935=) c.5622A>G (p.Arg1874=) c.5343A>G (p.Arg1781=) c.4386A>G (p.Arg1462=) c.4377A>G (p.Arg1459=) | |
5 | g.37038633A>T | CA359498007 | NIPBL | c.6003A>T (p.Arg2001Ser) c.1-25945A>T (n.1-25945A>T) c.5259A>T (p.Arg1753Ser) c.5805A>T (p.Arg1935Ser) c.5622A>T (p.Arg1874Ser) c.5343A>T (p.Arg1781Ser) c.4386A>T (p.Arg1462Ser) c.4377A>T (p.Arg1459Ser) | |
5 | g.37038634T>A | CA359498012 | NIPBL | c.6004T>A (p.Leu2002Met) c.1-25944T>A (n.1-25944T>A) c.5260T>A (p.Leu1754Met) c.5806T>A (p.Leu1936Met) c.5623T>A (p.Leu1875Met) c.5344T>A (p.Leu1782Met) c.4387T>A (p.Leu1463Met) c.4378T>A (p.Leu1460Met) | |
5 | g.37038634T>C | CA117038336 | NIPBL | c.6004T>C (p.Leu2002=) c.1-25944T>C (n.1-25944T>C) c.5260T>C (p.Leu1754=) c.5806T>C (p.Leu1936=) c.5623T>C (p.Leu1875=) c.5344T>C (p.Leu1782=) c.4387T>C (p.Leu1463=) c.4378T>C (p.Leu1460=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37038634T>G | CA359498015 | NIPBL | c.6004T>G (p.Leu2002Val) c.1-25944T>G (n.1-25944T>G) c.5260T>G (p.Leu1754Val) c.5806T>G (p.Leu1936Val) c.5623T>G (p.Leu1875Val) c.5344T>G (p.Leu1782Val) c.4387T>G (p.Leu1463Val) c.4378T>G (p.Leu1460Val) | gnomAD v4 |
5 | g.37038634T= | CA1539611474 | NIPBL | c.6004T= (p.Leu2002=) c.1-25944T= (n.1-25944T=) c.5260T= (p.Leu1754=) c.5806T= (p.Leu1936=) c.5623T= (p.Leu1875=) c.5344T= (p.Leu1782=) c.4387T= (p.Leu1463=) c.4378T= (p.Leu1460=) | |
5 | g.37038635T>A | CA359498022 | NIPBL | c.6005T>A (p.Leu2002Ter) c.1-25943T>A (n.1-25943T>A) c.5261T>A (p.Leu1754Ter) c.5807T>A (p.Leu1936Ter) c.5624T>A (p.Leu1875Ter) c.5345T>A (p.Leu1782Ter) c.4388T>A (p.Leu1463Ter) c.4379T>A (p.Leu1460Ter) | |
5 | g.37038635T>C | CA359498024 | NIPBL | c.6005T>C (p.Leu2002Ser) c.1-25943T>C (n.1-25943T>C) c.5261T>C (p.Leu1754Ser) c.5807T>C (p.Leu1936Ser) c.5624T>C (p.Leu1875Ser) c.5345T>C (p.Leu1782Ser) c.4388T>C (p.Leu1463Ser) c.4379T>C (p.Leu1460Ser) | dbSNP |
5 | g.37038635T>G | CA359498027 | NIPBL | c.6005T>G (p.Leu2002Trp) c.1-25943T>G (n.1-25943T>G) c.5261T>G (p.Leu1754Trp) c.5807T>G (p.Leu1936Trp) c.5624T>G (p.Leu1875Trp) c.5345T>G (p.Leu1782Trp) c.4388T>G (p.Leu1463Trp) c.4379T>G (p.Leu1460Trp) | |
5 | g.37038635T= | CA1539611479 | NIPBL | c.6005T= (p.Leu2002=) c.1-25943T= (n.1-25943T=) c.5261T= (p.Leu1754=) c.5807T= (p.Leu1936=) c.5624T= (p.Leu1875=) c.5345T= (p.Leu1782=) c.4388T= (p.Leu1463=) c.4379T= (p.Leu1460=) | |
5 | g.37038636G>A | CA443905798 | NIPBL | c.6006G>A (p.Leu2002=) c.1-25942G>A (n.1-25942G>A) c.5262G>A (p.Leu1754=) c.5808G>A (p.Leu1936=) c.5625G>A (p.Leu1875=) c.5346G>A (p.Leu1782=) c.4389G>A (p.Leu1463=) c.4380G>A (p.Leu1460=) | |
5 | g.37038636G>C | CA359498028 | NIPBL | c.6006G>C (p.Leu2002Phe) c.1-25942G>C (n.1-25942G>C) c.5262G>C (p.Leu1754Phe) c.5808G>C (p.Leu1936Phe) c.5625G>C (p.Leu1875Phe) c.5346G>C (p.Leu1782Phe) c.4389G>C (p.Leu1463Phe) c.4380G>C (p.Leu1460Phe) | |
5 | g.37038636G>T | CA359498029 | NIPBL | c.6006G>T (p.Leu2002Phe) c.1-25942G>T (n.1-25942G>T) c.5262G>T (p.Leu1754Phe) c.5808G>T (p.Leu1936Phe) c.5625G>T (p.Leu1875Phe) c.5346G>T (p.Leu1782Phe) c.4389G>T (p.Leu1463Phe) c.4380G>T (p.Leu1460Phe) | |
5 | g.37038637G>A | CA359498030 | NIPBL | c.6007G>A (p.Val2003Ile) c.1-25941G>A (n.1-25941G>A) c.5263G>A (p.Val1755Ile) c.5809G>A (p.Val1937Ile) c.5626G>A (p.Val1876Ile) c.5347G>A (p.Val1783Ile) c.4390G>A (p.Val1464Ile) c.4381G>A (p.Val1461Ile) | COSMIC COSMIC |
5 | g.37038637G>C | CA359498031 | NIPBL | c.6007G>C (p.Val2003Leu) c.1-25941G>C (n.1-25941G>C) c.5263G>C (p.Val1755Leu) c.5809G>C (p.Val1937Leu) c.5626G>C (p.Val1876Leu) c.5347G>C (p.Val1783Leu) c.4390G>C (p.Val1464Leu) c.4381G>C (p.Val1461Leu) | |
5 | g.37038637G>T | CA359498034 | NIPBL | c.6007G>T (p.Val2003Leu) c.1-25941G>T (n.1-25941G>T) c.5263G>T (p.Val1755Leu) c.5809G>T (p.Val1937Leu) c.5626G>T (p.Val1876Leu) c.5347G>T (p.Val1783Leu) c.4390G>T (p.Val1464Leu) c.4381G>T (p.Val1461Leu) | |
5 | g.37038638T>A | CA359498037 | NIPBL | c.6008T>A (p.Val2003Glu) c.1-25940T>A (n.1-25940T>A) c.5264T>A (p.Val1755Glu) c.5810T>A (p.Val1937Glu) c.5627T>A (p.Val1876Glu) c.5348T>A (p.Val1783Glu) c.4391T>A (p.Val1464Glu) c.4382T>A (p.Val1461Glu) | |
5 | g.37038638T>C | CA359498038 | NIPBL | c.6008T>C (p.Val2003Ala) c.1-25940T>C (n.1-25940T>C) c.5264T>C (p.Val1755Ala) c.5810T>C (p.Val1937Ala) c.5627T>C (p.Val1876Ala) c.5348T>C (p.Val1783Ala) c.4391T>C (p.Val1464Ala) c.4382T>C (p.Val1461Ala) | |
5 | g.37038638T>G | CA359498039 | NIPBL | c.6008T>G (p.Val2003Gly) c.1-25940T>G (n.1-25940T>G) c.5264T>G (p.Val1755Gly) c.5810T>G (p.Val1937Gly) c.5627T>G (p.Val1876Gly) c.5348T>G (p.Val1783Gly) c.4391T>G (p.Val1464Gly) c.4382T>G (p.Val1461Gly) | |
5 | g.37038639A>C | CA443905799 | NIPBL | c.6009A>C (p.Val2003=) c.1-25939A>C (n.1-25939A>C) c.5265A>C (p.Val1755=) c.5811A>C (p.Val1937=) c.5628A>C (p.Val1876=) c.5349A>C (p.Val1783=) c.4392A>C (p.Val1464=) c.4383A>C (p.Val1461=) | |
5 | g.37038639A>G | CA443905800 | NIPBL | c.6009A>G (p.Val2003=) c.1-25939A>G (n.1-25939A>G) c.5265A>G (p.Val1755=) c.5811A>G (p.Val1937=) c.5628A>G (p.Val1876=) c.5349A>G (p.Val1783=) c.4392A>G (p.Val1464=) c.4383A>G (p.Val1461=) | |
5 | g.37038639A>T | CA443905801 | NIPBL | c.6009A>T (p.Val2003=) c.1-25939A>T (n.1-25939A>T) c.5265A>T (p.Val1755=) c.5811A>T (p.Val1937=) c.5628A>T (p.Val1876=) c.5349A>T (p.Val1783=) c.4392A>T (p.Val1464=) c.4383A>T (p.Val1461=) | |
5 | g.37038640G>A | CA359498045 | NIPBL | c.6010G>A (p.Ala2004Thr) c.1-25938G>A (n.1-25938G>A) c.5266G>A (p.Ala1756Thr) c.5812G>A (p.Ala1938Thr) c.5629G>A (p.Ala1877Thr) c.5350G>A (p.Ala1784Thr) c.4393G>A (p.Ala1465Thr) c.4384G>A (p.Ala1462Thr) | |
5 | g.37038640G>C | CA359498043 | NIPBL | c.6010G>C (p.Ala2004Pro) c.1-25938G>C (n.1-25938G>C) c.5266G>C (p.Ala1756Pro) c.5812G>C (p.Ala1938Pro) c.5629G>C (p.Ala1877Pro) c.5350G>C (p.Ala1784Pro) c.4393G>C (p.Ala1465Pro) c.4384G>C (p.Ala1462Pro) | |
5 | g.37038640G>T | CA359498040 | NIPBL | c.6010G>T (p.Ala2004Ser) c.1-25938G>T (n.1-25938G>T) c.5266G>T (p.Ala1756Ser) c.5812G>T (p.Ala1938Ser) c.5629G>T (p.Ala1877Ser) c.5350G>T (p.Ala1784Ser) c.4393G>T (p.Ala1465Ser) c.4384G>T (p.Ala1462Ser) | |
5 | g.37038641C>A | CA359498048 | NIPBL | c.6011C>A (p.Ala2004Asp) c.1-25937C>A (n.1-25937C>A) c.5267C>A (p.Ala1756Asp) c.5813C>A (p.Ala1938Asp) c.5630C>A (p.Ala1877Asp) c.5351C>A (p.Ala1784Asp) c.4394C>A (p.Ala1465Asp) c.4385C>A (p.Ala1462Asp) | |
5 | g.37038641C>G | CA359498053 | NIPBL | c.6011C>G (p.Ala2004Gly) c.1-25937C>G (n.1-25937C>G) c.5267C>G (p.Ala1756Gly) c.5813C>G (p.Ala1938Gly) c.5630C>G (p.Ala1877Gly) c.5351C>G (p.Ala1784Gly) c.4394C>G (p.Ala1465Gly) c.4385C>G (p.Ala1462Gly) | |
5 | g.37038641C>T | CA359498050 | NIPBL | c.6011C>T (p.Ala2004Val) c.1-25937C>T (n.1-25937C>T) c.5267C>T (p.Ala1756Val) c.5813C>T (p.Ala1938Val) c.5630C>T (p.Ala1877Val) c.5351C>T (p.Ala1784Val) c.4394C>T (p.Ala1465Val) c.4385C>T (p.Ala1462Val) | |
5 | g.37038642T>A | CA443905802 | NIPBL | c.6012T>A (p.Ala2004=) c.1-25936T>A (n.1-25936T>A) c.5268T>A (p.Ala1756=) c.5814T>A (p.Ala1938=) c.5631T>A (p.Ala1877=) c.5352T>A (p.Ala1784=) c.4395T>A (p.Ala1465=) c.4386T>A (p.Ala1462=) | |
5 | g.37038642T>C | CA443905804 | NIPBL | c.6012T>C (p.Ala2004=) c.1-25936T>C (n.1-25936T>C) c.5268T>C (p.Ala1756=) c.5814T>C (p.Ala1938=) c.5631T>C (p.Ala1877=) c.5352T>C (p.Ala1784=) c.4395T>C (p.Ala1465=) c.4386T>C (p.Ala1462=) | |
5 | g.37038642T>G | CA443905803 | NIPBL | c.6012T>G (p.Ala2004=) c.1-25936T>G (n.1-25936T>G) c.5268T>G (p.Ala1756=) c.5814T>G (p.Ala1938=) c.5631T>G (p.Ala1877=) c.5352T>G (p.Ala1784=) c.4395T>G (p.Ala1465=) c.4386T>G (p.Ala1462=) | |
5 | g.37038643T>A | CA359498058 | NIPBL | c.6013T>A (p.Cys2005Ser) c.1-25935T>A (n.1-25935T>A) c.5269T>A (p.Cys1757Ser) c.5815T>A (p.Cys1939Ser) c.5632T>A (p.Cys1878Ser) c.5353T>A (p.Cys1785Ser) c.4396T>A (p.Cys1466Ser) c.4387T>A (p.Cys1463Ser) | |
5 | g.37038643T>C | CA359498066 | NIPBL | c.6013T>C (p.Cys2005Arg) c.1-25935T>C (n.1-25935T>C) c.5269T>C (p.Cys1757Arg) c.5815T>C (p.Cys1939Arg) c.5632T>C (p.Cys1878Arg) c.5353T>C (p.Cys1785Arg) c.4396T>C (p.Cys1466Arg) c.4387T>C (p.Cys1463Arg) | |
5 | g.37038643T>G | CA359498070 | NIPBL | c.6013T>G (p.Cys2005Gly) c.1-25935T>G (n.1-25935T>G) c.5269T>G (p.Cys1757Gly) c.5815T>G (p.Cys1939Gly) c.5632T>G (p.Cys1878Gly) c.5353T>G (p.Cys1785Gly) c.4396T>G (p.Cys1466Gly) c.4387T>G (p.Cys1463Gly) | |
5 | g.37038644G>A | CA359498072 | NIPBL | c.6014G>A (p.Cys2005Tyr) c.1-25934G>A (n.1-25934G>A) c.5270G>A (p.Cys1757Tyr) c.5816G>A (p.Cys1939Tyr) c.5633G>A (p.Cys1878Tyr) c.5354G>A (p.Cys1785Tyr) c.4397G>A (p.Cys1466Tyr) c.4388G>A (p.Cys1463Tyr) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37038644G>C | CA359498073 | NIPBL | c.6014G>C (p.Cys2005Ser) c.1-25934G>C (n.1-25934G>C) c.5270G>C (p.Cys1757Ser) c.5816G>C (p.Cys1939Ser) c.5633G>C (p.Cys1878Ser) c.5354G>C (p.Cys1785Ser) c.4397G>C (p.Cys1466Ser) c.4388G>C (p.Cys1463Ser) | |
5 | g.37038644G= | CA1539611484 | NIPBL | c.6014G= (p.Cys2005=) c.1-25934G= (n.1-25934G=) c.5270G= (p.Cys1757=) c.5816G= (p.Cys1939=) c.5633G= (p.Cys1878=) c.5354G= (p.Cys1785=) c.4397G= (p.Cys1466=) c.4388G= (p.Cys1463=) | |
5 | g.37038644G>T | CA359498074 | NIPBL | c.6014G>T (p.Cys2005Phe) c.1-25934G>T (n.1-25934G>T) c.5270G>T (p.Cys1757Phe) c.5816G>T (p.Cys1939Phe) c.5633G>T (p.Cys1878Phe) c.5354G>T (p.Cys1785Phe) c.4397G>T (p.Cys1466Phe) c.4388G>T (p.Cys1463Phe) | |
5 | g.37038645C>A | CA359498078 | NIPBL | c.6015C>A (p.Cys2005Ter) c.1-25933C>A (n.1-25933C>A) c.5271C>A (p.Cys1757Ter) c.5817C>A (p.Cys1939Ter) c.5634C>A (p.Cys1878Ter) c.5355C>A (p.Cys1785Ter) c.4398C>A (p.Cys1466Ter) c.4389C>A (p.Cys1463Ter) | |
5 | g.37038645C>G | CA359498086 | NIPBL | c.6015C>G (p.Cys2005Trp) c.1-25933C>G (n.1-25933C>G) c.5271C>G (p.Cys1757Trp) c.5817C>G (p.Cys1939Trp) c.5634C>G (p.Cys1878Trp) c.5355C>G (p.Cys1785Trp) c.4398C>G (p.Cys1466Trp) c.4389C>G (p.Cys1463Trp) | |
5 | g.37038645C>T | CA443905805 | NIPBL | c.6015C>T (p.Cys2005=) c.1-25933C>T (n.1-25933C>T) c.5271C>T (p.Cys1757=) c.5817C>T (p.Cys1939=) c.5634C>T (p.Cys1878=) c.5355C>T (p.Cys1785=) c.4398C>T (p.Cys1466=) c.4389C>T (p.Cys1463=) | gnomAD v4 |
5 | g.37038646A= | CA1539611488 | NIPBL | c.6016A= (p.Ile2006=) c.1-25932A= (n.1-25932A=) c.5272A= (p.Ile1758=) c.5818A= (p.Ile1940=) c.5635A= (p.Ile1879=) c.5356A= (p.Ile1786=) c.4399A= (p.Ile1467=) c.4390A= (p.Ile1464=) | |
5 | g.37038646A>C | CA359498090 | NIPBL | c.6016A>C (p.Ile2006Leu) c.1-25932A>C (n.1-25932A>C) c.5272A>C (p.Ile1758Leu) c.5818A>C (p.Ile1940Leu) c.5635A>C (p.Ile1879Leu) c.5356A>C (p.Ile1786Leu) c.4399A>C (p.Ile1467Leu) c.4390A>C (p.Ile1464Leu) | |
5 | g.37038646A>G | CA359498091 | NIPBL | c.6016A>G (p.Ile2006Val) c.1-25932A>G (n.1-25932A>G) c.5272A>G (p.Ile1758Val) c.5818A>G (p.Ile1940Val) c.5635A>G (p.Ile1879Val) c.5356A>G (p.Ile1786Val) c.4399A>G (p.Ile1467Val) c.4390A>G (p.Ile1464Val) | dbSNP |
5 | g.37038646A>T | CA359498092 | NIPBL | c.6016A>T (p.Ile2006Leu) c.1-25932A>T (n.1-25932A>T) c.5272A>T (p.Ile1758Leu) c.5818A>T (p.Ile1940Leu) c.5635A>T (p.Ile1879Leu) c.5356A>T (p.Ile1786Leu) c.4399A>T (p.Ile1467Leu) c.4390A>T (p.Ile1464Leu) | |
5 | g.37038647_37038648dup | CA2697547124 | NIPBL | c.6017_6018dup (p.Thr2007Ter) c.1-25931_1-25930dup (n.1-25931_1-25930dup) c.5273_5274dup (p.Thr1759Ter) c.5819_5820dup (p.Thr1941Ter) c.5636_5637dup (p.Thr1880Ter) c.5357_5358dup (p.Thr1787Ter) c.4400_4401dup (p.Thr1468Ter) c.4391_4392dup (p.Thr1465Ter) | ClinVar |
5 | g.37038647T>A | CA359498097 | NIPBL | c.6017T>A (p.Ile2006Lys) c.1-25931T>A (n.1-25931T>A) c.5273T>A (p.Ile1758Lys) c.5819T>A (p.Ile1940Lys) c.5636T>A (p.Ile1879Lys) c.5357T>A (p.Ile1786Lys) c.4400T>A (p.Ile1467Lys) c.4391T>A (p.Ile1464Lys) | |
5 | g.37038647T>C | CA359498094 | NIPBL | c.6017T>C (p.Ile2006Thr) c.1-25931T>C (n.1-25931T>C) c.5273T>C (p.Ile1758Thr) c.5819T>C (p.Ile1940Thr) c.5636T>C (p.Ile1879Thr) c.5357T>C (p.Ile1786Thr) c.4400T>C (p.Ile1467Thr) c.4391T>C (p.Ile1464Thr) | |
5 | g.37038647T>G | CA359498093 | NIPBL | c.6017T>G (p.Ile2006Arg) c.1-25931T>G (n.1-25931T>G) c.5273T>G (p.Ile1758Arg) c.5819T>G (p.Ile1940Arg) c.5636T>G (p.Ile1879Arg) c.5357T>G (p.Ile1786Arg) c.4400T>G (p.Ile1467Arg) c.4391T>G (p.Ile1464Arg) | |
5 | g.37038648A>C | CA443905806 | NIPBL | c.6018A>C (p.Ile2006=) c.1-25930A>C (n.1-25930A>C) c.5274A>C (p.Ile1758=) c.5820A>C (p.Ile1940=) c.5637A>C (p.Ile1879=) c.5358A>C (p.Ile1786=) c.4401A>C (p.Ile1467=) c.4392A>C (p.Ile1464=) | |
5 | g.37038648A>G | CA359498099 | NIPBL | c.6018A>G (p.Ile2006Met) c.1-25930A>G (n.1-25930A>G) c.5274A>G (p.Ile1758Met) c.5820A>G (p.Ile1940Met) c.5637A>G (p.Ile1879Met) c.5358A>G (p.Ile1786Met) c.4401A>G (p.Ile1467Met) c.4392A>G (p.Ile1464Met) | |
5 | g.37038648A>T | CA443905807 | NIPBL | c.6018A>T (p.Ile2006=) c.1-25930A>T (n.1-25930A>T) c.5274A>T (p.Ile1758=) c.5820A>T (p.Ile1940=) c.5637A>T (p.Ile1879=) c.5358A>T (p.Ile1786=) c.4401A>T (p.Ile1467=) c.4392A>T (p.Ile1464=) | |
5 | g.37038649A>C | CA359498105 | NIPBL | c.6019A>C (p.Thr2007Pro) c.1-25929A>C (n.1-25929A>C) c.5275A>C (p.Thr1759Pro) c.5821A>C (p.Thr1941Pro) c.5638A>C (p.Thr1880Pro) c.5359A>C (p.Thr1787Pro) c.4402A>C (p.Thr1468Pro) c.4393A>C (p.Thr1465Pro) | |
5 | g.37038649A>G | CA359498108 | NIPBL | c.6019A>G (p.Thr2007Ala) c.1-25929A>G (n.1-25929A>G) c.5275A>G (p.Thr1759Ala) c.5821A>G (p.Thr1941Ala) c.5638A>G (p.Thr1880Ala) c.5359A>G (p.Thr1787Ala) c.4402A>G (p.Thr1468Ala) c.4393A>G (p.Thr1465Ala) | |
5 | g.37038649A>T | CA359498113 | NIPBL | c.6019A>T (p.Thr2007Ser) c.1-25929A>T (n.1-25929A>T) c.5275A>T (p.Thr1759Ser) c.5821A>T (p.Thr1941Ser) c.5638A>T (p.Thr1880Ser) c.5359A>T (p.Thr1787Ser) c.4402A>T (p.Thr1468Ser) c.4393A>T (p.Thr1465Ser) | |
5 | g.37038650C>A | CA359498116 | NIPBL | c.6020C>A (p.Thr2007Asn) c.1-25928C>A (n.1-25928C>A) c.5276C>A (p.Thr1759Asn) c.5822C>A (p.Thr1941Asn) c.5639C>A (p.Thr1880Asn) c.5360C>A (p.Thr1787Asn) c.4403C>A (p.Thr1468Asn) c.4394C>A (p.Thr1465Asn) | |
5 | g.37038650C>G | CA359498120 | NIPBL | c.6020C>G (p.Thr2007Ser) c.1-25928C>G (n.1-25928C>G) c.5276C>G (p.Thr1759Ser) c.5822C>G (p.Thr1941Ser) c.5639C>G (p.Thr1880Ser) c.5360C>G (p.Thr1787Ser) c.4403C>G (p.Thr1468Ser) c.4394C>G (p.Thr1465Ser) | |
5 | g.37038650C>T | CA359498133 | NIPBL | c.6020C>T (p.Thr2007Ile) c.1-25928C>T (n.1-25928C>T) c.5276C>T (p.Thr1759Ile) c.5822C>T (p.Thr1941Ile) c.5639C>T (p.Thr1880Ile) c.5360C>T (p.Thr1787Ile) c.4403C>T (p.Thr1468Ile) c.4394C>T (p.Thr1465Ile) | |
5 | g.37038651C>A | CA443905809 | NIPBL | c.6021C>A (p.Thr2007=) c.1-25927C>A (n.1-25927C>A) c.5277C>A (p.Thr1759=) c.5823C>A (p.Thr1941=) c.5640C>A (p.Thr1880=) c.5361C>A (p.Thr1787=) c.4404C>A (p.Thr1468=) c.4395C>A (p.Thr1465=) | |
5 | g.37038651C>G | CA443905810 | NIPBL | c.6021C>G (p.Thr2007=) c.1-25927C>G (n.1-25927C>G) c.5277C>G (p.Thr1759=) c.5823C>G (p.Thr1941=) c.5640C>G (p.Thr1880=) c.5361C>G (p.Thr1787=) c.4404C>G (p.Thr1468=) c.4395C>G (p.Thr1465=) | |
5 | g.37038651C>T | CA443905808 | NIPBL | c.6021C>T (p.Thr2007=) c.1-25927C>T (n.1-25927C>T) c.5277C>T (p.Thr1759=) c.5823C>T (p.Thr1941=) c.5640C>T (p.Thr1880=) c.5361C>T (p.Thr1787=) c.4404C>T (p.Thr1468=) c.4395C>T (p.Thr1465=) | |
5 | g.37038652A= | CA1539611490 | NIPBL | c.6022A= (p.Thr2008=) c.1-25926A= (n.1-25926A=) c.5278A= (p.Thr1760=) c.5824A= (p.Thr1942=) c.5641A= (p.Thr1881=) c.5362A= (p.Thr1788=) c.4405A= (p.Thr1469=) c.4396A= (p.Thr1466=) | |
5 | g.37038652A>C | CA359498137 | NIPBL | c.6022A>C (p.Thr2008Pro) c.1-25926A>C (n.1-25926A>C) c.5278A>C (p.Thr1760Pro) c.5824A>C (p.Thr1942Pro) c.5641A>C (p.Thr1881Pro) c.5362A>C (p.Thr1788Pro) c.4405A>C (p.Thr1469Pro) c.4396A>C (p.Thr1466Pro) | |
5 | g.37038652A>G | CA359498140 | NIPBL | c.6022A>G (p.Thr2008Ala) c.1-25926A>G (n.1-25926A>G) c.5278A>G (p.Thr1760Ala) c.5824A>G (p.Thr1942Ala) c.5641A>G (p.Thr1881Ala) c.5362A>G (p.Thr1788Ala) c.4405A>G (p.Thr1469Ala) c.4396A>G (p.Thr1466Ala) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37038652A>T | CA359498153 | NIPBL | c.6022A>T (p.Thr2008Ser) c.1-25926A>T (n.1-25926A>T) c.5278A>T (p.Thr1760Ser) c.5824A>T (p.Thr1942Ser) c.5641A>T (p.Thr1881Ser) c.5362A>T (p.Thr1788Ser) c.4405A>T (p.Thr1469Ser) c.4396A>T (p.Thr1466Ser) | |
5 | g.37038653C>A | CA359498159 | NIPBL | c.6023C>A (p.Thr2008Asn) c.1-25925C>A (n.1-25925C>A) c.5279C>A (p.Thr1760Asn) c.5825C>A (p.Thr1942Asn) c.5642C>A (p.Thr1881Asn) c.5363C>A (p.Thr1788Asn) c.4406C>A (p.Thr1469Asn) c.4397C>A (p.Thr1466Asn) | |
5 | g.37038653C>G | CA359498161 | NIPBL | c.6023C>G (p.Thr2008Ser) c.1-25925C>G (n.1-25925C>G) c.5279C>G (p.Thr1760Ser) c.5825C>G (p.Thr1942Ser) c.5642C>G (p.Thr1881Ser) c.5363C>G (p.Thr1788Ser) c.4406C>G (p.Thr1469Ser) c.4397C>G (p.Thr1466Ser) | |
5 | g.37038653C>T | CA359498167 | NIPBL | c.6023C>T (p.Thr2008Ile) c.1-25925C>T (n.1-25925C>T) c.5279C>T (p.Thr1760Ile) c.5825C>T (p.Thr1942Ile) c.5642C>T (p.Thr1881Ile) c.5363C>T (p.Thr1788Ile) c.4406C>T (p.Thr1469Ile) c.4397C>T (p.Thr1466Ile) | |
5 | g.37038654T>A | CA443905811 | NIPBL | c.6024T>A (p.Thr2008=) c.1-25924T>A (n.1-25924T>A) c.5280T>A (p.Thr1760=) c.5826T>A (p.Thr1942=) c.5643T>A (p.Thr1881=) c.5364T>A (p.Thr1788=) c.4407T>A (p.Thr1469=) c.4398T>A (p.Thr1466=) | |
5 | g.37038654T>C | CA443905812 | NIPBL | c.6024T>C (p.Thr2008=) c.1-25924T>C (n.1-25924T>C) c.5280T>C (p.Thr1760=) c.5826T>C (p.Thr1942=) c.5643T>C (p.Thr1881=) c.5364T>C (p.Thr1788=) c.4407T>C (p.Thr1469=) c.4398T>C (p.Thr1466=) | |
5 | g.37038654T>G | CA117038341 | NIPBL | c.6024T>G (p.Thr2008=) c.1-25924T>G (n.1-25924T>G) c.5280T>G (p.Thr1760=) c.5826T>G (p.Thr1942=) c.5643T>G (p.Thr1881=) c.5364T>G (p.Thr1788=) c.4407T>G (p.Thr1469=) c.4398T>G (p.Thr1466=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37038654T= | CA1539611493 | NIPBL | c.6024T= (p.Thr2008=) c.1-25924T= (n.1-25924T=) c.5280T= (p.Thr1760=) c.5826T= (p.Thr1942=) c.5643T= (p.Thr1881=) c.5364T= (p.Thr1788=) c.4407T= (p.Thr1469=) c.4398T= (p.Thr1466=) | |
5 | g.37038655T>A | CA359498170 | NIPBL | c.6025T>A (p.Leu2009Met) c.1-25923T>A (n.1-25923T>A) c.5281T>A (p.Leu1761Met) c.5827T>A (p.Leu1943Met) c.5644T>A (p.Leu1882Met) c.5365T>A (p.Leu1789Met) c.4408T>A (p.Leu1470Met) c.4399T>A (p.Leu1467Met) | |
5 | g.37038655T>C | CA443905813 | NIPBL | c.6025T>C (p.Leu2009=) c.1-25923T>C (n.1-25923T>C) c.5281T>C (p.Leu1761=) c.5827T>C (p.Leu1943=) c.5644T>C (p.Leu1882=) c.5365T>C (p.Leu1789=) c.4408T>C (p.Leu1470=) c.4399T>C (p.Leu1467=) | |
5 | g.37038655T>G | CA359498181 | NIPBL | c.6025T>G (p.Leu2009Val) c.1-25923T>G (n.1-25923T>G) c.5281T>G (p.Leu1761Val) c.5827T>G (p.Leu1943Val) c.5644T>G (p.Leu1882Val) c.5365T>G (p.Leu1789Val) c.4408T>G (p.Leu1470Val) c.4399T>G (p.Leu1467Val) | |
5 | g.37038656T>A | CA359498183 | NIPBL | c.6026T>A (p.Leu2009Ter) c.1-25922T>A (n.1-25922T>A) c.5282T>A (p.Leu1761Ter) c.5828T>A (p.Leu1943Ter) c.5645T>A (p.Leu1882Ter) c.5366T>A (p.Leu1789Ter) c.4409T>A (p.Leu1470Ter) c.4400T>A (p.Leu1467Ter) | |
5 | g.37038656T>C | CA359498184 | NIPBL | c.6026T>C (p.Leu2009Ser) c.1-25922T>C (n.1-25922T>C) c.5282T>C (p.Leu1761Ser) c.5828T>C (p.Leu1943Ser) c.5645T>C (p.Leu1882Ser) c.5366T>C (p.Leu1789Ser) c.4409T>C (p.Leu1470Ser) c.4400T>C (p.Leu1467Ser) | |
5 | g.37038656T>G | CA359498186 | NIPBL | c.6026T>G (p.Leu2009Trp) c.1-25922T>G (n.1-25922T>G) c.5282T>G (p.Leu1761Trp) c.5828T>G (p.Leu1943Trp) c.5645T>G (p.Leu1882Trp) c.5366T>G (p.Leu1789Trp) c.4409T>G (p.Leu1470Trp) c.4400T>G (p.Leu1467Trp) | |
5 | g.37038657G>A | CA443905814 | NIPBL | c.6027G>A (p.Leu2009=) c.1-25921G>A (n.1-25921G>A) c.5283G>A (p.Leu1761=) c.5829G>A (p.Leu1943=) c.5646G>A (p.Leu1882=) c.5367G>A (p.Leu1789=) c.4410G>A (p.Leu1470=) c.4401G>A (p.Leu1467=) | |
5 | g.37038657G>C | CA359498188 | NIPBL | c.6027G>C (p.Leu2009Phe) c.1-25921G>C (n.1-25921G>C) c.5283G>C (p.Leu1761Phe) c.5829G>C (p.Leu1943Phe) c.5646G>C (p.Leu1882Phe) c.5367G>C (p.Leu1789Phe) c.4410G>C (p.Leu1470Phe) c.4401G>C (p.Leu1467Phe) | |
5 | g.37038657G>T | CA359498193 | NIPBL | c.6027G>T (p.Leu2009Phe) c.1-25921G>T (n.1-25921G>T) c.5283G>T (p.Leu1761Phe) c.5829G>T (p.Leu1943Phe) c.5646G>T (p.Leu1882Phe) c.5367G>T (p.Leu1789Phe) c.4410G>T (p.Leu1470Phe) c.4401G>T (p.Leu1467Phe) | |
5 | g.37038657_37038660del | CA2580073211 | NIPBL | c.6027_6030del (p.Leu2009PhefsTer6) c.1-25921_1-25918del (n.1-25921_1-25918del) c.5283_5286del (p.Leu1761PhefsTer6) c.5829_5832del (p.Leu1943PhefsTer6) c.5646_5649del (p.Leu1882PhefsTer6) c.5367_5370del (p.Leu1789PhefsTer6) c.4410_4413del (p.Leu1470PhefsTer6) c.4401_4404del (p.Leu1467PhefsTer6) | ClinVar dbSNP |
5 | g.37038658T>A | CA359498203 | NIPBL | c.6028T>A (p.Phe2010Ile) c.1-25920T>A (n.1-25920T>A) c.5284T>A (p.Phe1762Ile) c.5830T>A (p.Phe1944Ile) c.5647T>A (p.Phe1883Ile) c.5368T>A (p.Phe1790Ile) c.4411T>A (p.Phe1471Ile) c.4402T>A (p.Phe1468Ile) | |
5 | g.37038658T>C | CA359498204 | NIPBL | c.6028T>C (p.Phe2010Leu) c.1-25920T>C (n.1-25920T>C) c.5284T>C (p.Phe1762Leu) c.5830T>C (p.Phe1944Leu) c.5647T>C (p.Phe1883Leu) c.5368T>C (p.Phe1790Leu) c.4411T>C (p.Phe1471Leu) c.4402T>C (p.Phe1468Leu) | |
5 | g.37038658T>G | CA359498208 | NIPBL | c.6028T>G (p.Phe2010Val) c.1-25920T>G (n.1-25920T>G) c.5284T>G (p.Phe1762Val) c.5830T>G (p.Phe1944Val) c.5647T>G (p.Phe1883Val) c.5368T>G (p.Phe1790Val) c.4411T>G (p.Phe1471Val) c.4402T>G (p.Phe1468Val) | |
5 | g.37038659T>A | CA359498211 | NIPBL | c.6029T>A (p.Phe2010Tyr) c.1-25919T>A (n.1-25919T>A) c.5285T>A (p.Phe1762Tyr) c.5831T>A (p.Phe1944Tyr) c.5648T>A (p.Phe1883Tyr) c.5369T>A (p.Phe1790Tyr) c.4412T>A (p.Phe1471Tyr) c.4403T>A (p.Phe1468Tyr) | |
5 | g.37038659T>C | CA359498215 | NIPBL | c.6029T>C (p.Phe2010Ser) c.1-25919T>C (n.1-25919T>C) c.5285T>C (p.Phe1762Ser) c.5831T>C (p.Phe1944Ser) c.5648T>C (p.Phe1883Ser) c.5369T>C (p.Phe1790Ser) c.4412T>C (p.Phe1471Ser) c.4403T>C (p.Phe1468Ser) | |
5 | g.37038659T>G | CA359498222 | NIPBL | c.6029T>G (p.Phe2010Cys) c.1-25919T>G (n.1-25919T>G) c.5285T>G (p.Phe1762Cys) c.5831T>G (p.Phe1944Cys) c.5648T>G (p.Phe1883Cys) c.5369T>G (p.Phe1790Cys) c.4412T>G (p.Phe1471Cys) c.4403T>G (p.Phe1468Cys) | |
5 | g.37038660C>A | CA359498223 | NIPBL | c.6030C>A (p.Phe2010Leu) c.1-25918C>A (n.1-25918C>A) c.5286C>A (p.Phe1762Leu) c.5832C>A (p.Phe1944Leu) c.5649C>A (p.Phe1883Leu) c.5370C>A (p.Phe1790Leu) c.4413C>A (p.Phe1471Leu) c.4404C>A (p.Phe1468Leu) | |
5 | g.37038660C>G | CA359498226 | NIPBL | c.6030C>G (p.Phe2010Leu) c.1-25918C>G (n.1-25918C>G) c.5286C>G (p.Phe1762Leu) c.5832C>G (p.Phe1944Leu) c.5649C>G (p.Phe1883Leu) c.5370C>G (p.Phe1790Leu) c.4413C>G (p.Phe1471Leu) c.4404C>G (p.Phe1468Leu) | |
5 | g.37038660C>T | CA443905815 | NIPBL | c.6030C>T (p.Phe2010=) c.1-25918C>T (n.1-25918C>T) c.5286C>T (p.Phe1762=) c.5832C>T (p.Phe1944=) c.5649C>T (p.Phe1883=) c.5370C>T (p.Phe1790=) c.4413C>T (p.Phe1471=) c.4404C>T (p.Phe1468=) | |
5 | g.37038661T>A | CA359498228 | NIPBL | c.6031T>A (p.Leu2011Ile) c.1-25917T>A (n.1-25917T>A) c.5287T>A (p.Leu1763Ile) c.5833T>A (p.Leu1945Ile) c.5650T>A (p.Leu1884Ile) c.5371T>A (p.Leu1791Ile) c.4414T>A (p.Leu1472Ile) c.4405T>A (p.Leu1469Ile) | |
5 | g.37038661T>C | CA443905816 | NIPBL | c.6031T>C (p.Leu2011=) c.1-25917T>C (n.1-25917T>C) c.5287T>C (p.Leu1763=) c.5833T>C (p.Leu1945=) c.5650T>C (p.Leu1884=) c.5371T>C (p.Leu1791=) c.4414T>C (p.Leu1472=) c.4405T>C (p.Leu1469=) | gnomAD v4 |
5 | g.37038661T>G | CA359498227 | NIPBL | c.6031T>G (p.Leu2011Val) c.1-25917T>G (n.1-25917T>G) c.5287T>G (p.Leu1763Val) c.5833T>G (p.Leu1945Val) c.5650T>G (p.Leu1884Val) c.5371T>G (p.Leu1791Val) c.4414T>G (p.Leu1472Val) c.4405T>G (p.Leu1469Val) | |
5 | g.37038662T>A | CA359498229 | NIPBL | c.6032T>A (p.Leu2011Ter) c.1-25916T>A (n.1-25916T>A) c.5288T>A (p.Leu1763Ter) c.5834T>A (p.Leu1945Ter) c.5651T>A (p.Leu1884Ter) c.5372T>A (p.Leu1791Ter) c.4415T>A (p.Leu1472Ter) c.4406T>A (p.Leu1469Ter) | |
5 | g.37038662T>C | CA359498231 | NIPBL | c.6032T>C (p.Leu2011Ser) c.1-25916T>C (n.1-25916T>C) c.5288T>C (p.Leu1763Ser) c.5834T>C (p.Leu1945Ser) c.5651T>C (p.Leu1884Ser) c.5372T>C (p.Leu1791Ser) c.4415T>C (p.Leu1472Ser) c.4406T>C (p.Leu1469Ser) | |
5 | g.37038662T>G | CA359498233 | NIPBL | c.6032T>G (p.Leu2011Ter) c.1-25916T>G (n.1-25916T>G) c.5288T>G (p.Leu1763Ter) c.5834T>G (p.Leu1945Ter) c.5651T>G (p.Leu1884Ter) c.5372T>G (p.Leu1791Ter) c.4415T>G (p.Leu1472Ter) c.4406T>G (p.Leu1469Ter) | |
5 | g.37038663A= | CA1539611496 | NIPBL | c.6033A= (p.Leu2011=) c.1-25915A= (n.1-25915A=) c.5289A= (p.Leu1763=) c.5835A= (p.Leu1945=) c.5652A= (p.Leu1884=) c.5373A= (p.Leu1791=) c.4416A= (p.Leu1472=) c.4407A= (p.Leu1469=) | |
5 | g.37038663A>C | CA359498236 | NIPBL | c.6033A>C (p.Leu2011Phe) c.1-25915A>C (n.1-25915A>C) c.5289A>C (p.Leu1763Phe) c.5835A>C (p.Leu1945Phe) c.5652A>C (p.Leu1884Phe) c.5373A>C (p.Leu1791Phe) c.4416A>C (p.Leu1472Phe) c.4407A>C (p.Leu1469Phe) | |
5 | g.37038663A>G | CA443905817 | NIPBL | c.6033A>G (p.Leu2011=) c.1-25915A>G (n.1-25915A>G) c.5289A>G (p.Leu1763=) c.5835A>G (p.Leu1945=) c.5652A>G (p.Leu1884=) c.5373A>G (p.Leu1791=) c.4416A>G (p.Leu1472=) c.4407A>G (p.Leu1469=) | |
5 | g.37038663A>T | CA359498241 | NIPBL | c.6033A>T (p.Leu2011Phe) c.1-25915A>T (n.1-25915A>T) c.5289A>T (p.Leu1763Phe) c.5835A>T (p.Leu1945Phe) c.5652A>T (p.Leu1884Phe) c.5373A>T (p.Leu1791Phe) c.4416A>T (p.Leu1472Phe) c.4407A>T (p.Leu1469Phe) | ClinVar dbSNP |
5 | g.37038664T>A | CA359498244 | NIPBL | c.6034T>A (p.Phe2012Ile) c.1-25914T>A (n.1-25914T>A) c.5290T>A (p.Phe1764Ile) c.5836T>A (p.Phe1946Ile) c.5653T>A (p.Phe1885Ile) c.5374T>A (p.Phe1792Ile) c.4417T>A (p.Phe1473Ile) c.4408T>A (p.Phe1470Ile) | |
5 | g.37038664T>C | CA359498246 | NIPBL | c.6034T>C (p.Phe2012Leu) c.1-25914T>C (n.1-25914T>C) c.5290T>C (p.Phe1764Leu) c.5836T>C (p.Phe1946Leu) c.5653T>C (p.Phe1885Leu) c.5374T>C (p.Phe1792Leu) c.4417T>C (p.Phe1473Leu) c.4408T>C (p.Phe1470Leu) | |
5 | g.37038664T>G | CA359498249 | NIPBL | c.6034T>G (p.Phe2012Val) c.1-25914T>G (n.1-25914T>G) c.5290T>G (p.Phe1764Val) c.5836T>G (p.Phe1946Val) c.5653T>G (p.Phe1885Val) c.5374T>G (p.Phe1792Val) c.4417T>G (p.Phe1473Val) c.4408T>G (p.Phe1470Val) | |
5 | g.37038665T>A | CA359498253 | NIPBL | c.6035T>A (p.Phe2012Tyr) c.1-25913T>A (n.1-25913T>A) c.5291T>A (p.Phe1764Tyr) c.5837T>A (p.Phe1946Tyr) c.5654T>A (p.Phe1885Tyr) c.5375T>A (p.Phe1792Tyr) c.4418T>A (p.Phe1473Tyr) c.4409T>A (p.Phe1470Tyr) | |
5 | g.37038665T>C | CA359498256 | NIPBL | c.6035T>C (p.Phe2012Ser) c.1-25913T>C (n.1-25913T>C) c.5291T>C (p.Phe1764Ser) c.5837T>C (p.Phe1946Ser) c.5654T>C (p.Phe1885Ser) c.5375T>C (p.Phe1792Ser) c.4418T>C (p.Phe1473Ser) c.4409T>C (p.Phe1470Ser) | COSMIC COSMIC |
5 | g.37038665T>G | CA359498261 | NIPBL | c.6035T>G (p.Phe2012Cys) c.1-25913T>G (n.1-25913T>G) c.5291T>G (p.Phe1764Cys) c.5837T>G (p.Phe1946Cys) c.5654T>G (p.Phe1885Cys) c.5375T>G (p.Phe1792Cys) c.4418T>G (p.Phe1473Cys) c.4409T>G (p.Phe1470Cys) | |
5 | g.37038666C>A | CA359498266 | NIPBL | c.6036C>A (p.Phe2012Leu) c.1-25912C>A (n.1-25912C>A) c.5292C>A (p.Phe1764Leu) c.5838C>A (p.Phe1946Leu) c.5655C>A (p.Phe1885Leu) c.5376C>A (p.Phe1792Leu) c.4419C>A (p.Phe1473Leu) c.4410C>A (p.Phe1470Leu) | |
5 | g.37038666C>G | CA359498267 | NIPBL | c.6036C>G (p.Phe2012Leu) c.1-25912C>G (n.1-25912C>G) c.5292C>G (p.Phe1764Leu) c.5838C>G (p.Phe1946Leu) c.5655C>G (p.Phe1885Leu) c.5376C>G (p.Phe1792Leu) c.4419C>G (p.Phe1473Leu) c.4410C>G (p.Phe1470Leu) | |
5 | g.37038666C>T | CA443905818 | NIPBL | c.6036C>T (p.Phe2012=) c.1-25912C>T (n.1-25912C>T) c.5292C>T (p.Phe1764=) c.5838C>T (p.Phe1946=) c.5655C>T (p.Phe1885=) c.5376C>T (p.Phe1792=) c.4419C>T (p.Phe1473=) c.4410C>T (p.Phe1470=) | |
5 | g.37038667A= | CA1539611498 | NIPBL | c.6037A= (p.Ser2013=) c.1-25911A= (n.1-25911A=) c.5293A= (p.Ser1765=) c.5839A= (p.Ser1947=) c.5656A= (p.Ser1886=) c.5377A= (p.Ser1793=) c.4420A= (p.Ser1474=) c.4411A= (p.Ser1471=) | |
5 | g.37038667A>C | CA272183 | NIPBL | c.6037A>C (p.Ser2013Arg) c.1-25911A>C (n.1-25911A>C) c.5293A>C (p.Ser1765Arg) c.5839A>C (p.Ser1947Arg) c.5656A>C (p.Ser1886Arg) c.5377A>C (p.Ser1793Arg) c.4420A>C (p.Ser1474Arg) c.4411A>C (p.Ser1471Arg) | ClinVar dbSNP |
5 | g.37038667A>G | CA359498269 | NIPBL | c.6037A>G (p.Ser2013Gly) c.1-25911A>G (n.1-25911A>G) c.5293A>G (p.Ser1765Gly) c.5839A>G (p.Ser1947Gly) c.5656A>G (p.Ser1886Gly) c.5377A>G (p.Ser1793Gly) c.4420A>G (p.Ser1474Gly) c.4411A>G (p.Ser1471Gly) | |
5 | g.37038667A>T | CA359498268 | NIPBL | c.6037A>T (p.Ser2013Cys) c.1-25911A>T (n.1-25911A>T) c.5293A>T (p.Ser1765Cys) c.5839A>T (p.Ser1947Cys) c.5656A>T (p.Ser1886Cys) c.5377A>T (p.Ser1793Cys) c.4420A>T (p.Ser1474Cys) c.4411A>T (p.Ser1471Cys) | |
5 | g.37038668G>A | CA359498276 | NIPBL | c.6038G>A (p.Ser2013Asn) c.1-25910G>A (n.1-25910G>A) c.5294G>A (p.Ser1765Asn) c.5840G>A (p.Ser1947Asn) c.5657G>A (p.Ser1886Asn) c.5378G>A (p.Ser1793Asn) c.4421G>A (p.Ser1474Asn) c.4412G>A (p.Ser1471Asn) | ClinVar dbSNP |
5 | g.37038668G>C | CA359498286 | NIPBL | c.6038G>C (p.Ser2013Thr) c.1-25910G>C (n.1-25910G>C) c.5294G>C (p.Ser1765Thr) c.5840G>C (p.Ser1947Thr) c.5657G>C (p.Ser1886Thr) c.5378G>C (p.Ser1793Thr) c.4421G>C (p.Ser1474Thr) c.4412G>C (p.Ser1471Thr) | |
5 | g.37038668G= | CA1539611500 | NIPBL | c.6038G= (p.Ser2013=) c.1-25910G= (n.1-25910G=) c.5294G= (p.Ser1765=) c.5840G= (p.Ser1947=) c.5657G= (p.Ser1886=) c.5378G= (p.Ser1793=) c.4421G= (p.Ser1474=) c.4412G= (p.Ser1471=) | |
5 | g.37038668G>T | CA359498281 | NIPBL | c.6038G>T (p.Ser2013Ile) c.1-25910G>T (n.1-25910G>T) c.5294G>T (p.Ser1765Ile) c.5840G>T (p.Ser1947Ile) c.5657G>T (p.Ser1886Ile) c.5378G>T (p.Ser1793Ile) c.4421G>T (p.Ser1474Ile) c.4412G>T (p.Ser1471Ile) | |
5 | g.37038669C>A | CA359498287 | NIPBL | c.6039C>A (p.Ser2013Arg) c.1-25909C>A (n.1-25909C>A) c.5295C>A (p.Ser1765Arg) c.5841C>A (p.Ser1947Arg) c.5658C>A (p.Ser1886Arg) c.5379C>A (p.Ser1793Arg) c.4422C>A (p.Ser1474Arg) c.4413C>A (p.Ser1471Arg) | |
5 | g.37038669C>G | CA359498288 | NIPBL | c.6039C>G (p.Ser2013Arg) c.1-25909C>G (n.1-25909C>G) c.5295C>G (p.Ser1765Arg) c.5841C>G (p.Ser1947Arg) c.5658C>G (p.Ser1886Arg) c.5379C>G (p.Ser1793Arg) c.4422C>G (p.Ser1474Arg) c.4413C>G (p.Ser1471Arg) | |
5 | g.37038669C>T | CA443905819 | NIPBL | c.6039C>T (p.Ser2013=) c.1-25909C>T (n.1-25909C>T) c.5295C>T (p.Ser1765=) c.5841C>T (p.Ser1947=) c.5658C>T (p.Ser1886=) c.5379C>T (p.Ser1793=) c.4422C>T (p.Ser1474=) c.4413C>T (p.Ser1471=) | |
5 | g.37038670A>C | CA359498291 | NIPBL | c.6040A>C (p.Lys2014Gln) c.1-25908A>C (n.1-25908A>C) c.5296A>C (p.Lys1766Gln) c.5842A>C (p.Lys1948Gln) c.5659A>C (p.Lys1887Gln) c.5380A>C (p.Lys1794Gln) c.4423A>C (p.Lys1475Gln) c.4414A>C (p.Lys1472Gln) | |
5 | g.37038670A>G | CA359498292 | NIPBL | c.6040A>G (p.Lys2014Glu) c.1-25908A>G (n.1-25908A>G) c.5296A>G (p.Lys1766Glu) c.5842A>G (p.Lys1948Glu) c.5659A>G (p.Lys1887Glu) c.5380A>G (p.Lys1794Glu) c.4423A>G (p.Lys1475Glu) c.4414A>G (p.Lys1472Glu) | |
5 | g.37038670A>T | CA359498296 | NIPBL | c.6040A>T (p.Lys2014Ter) c.1-25908A>T (n.1-25908A>T) c.5296A>T (p.Lys1766Ter) c.5842A>T (p.Lys1948Ter) c.5659A>T (p.Lys1887Ter) c.5380A>T (p.Lys1794Ter) c.4423A>T (p.Lys1475Ter) c.4414A>T (p.Lys1472Ter) | |
5 | g.37038671A>C | CA359498303 | NIPBL | c.6041A>C (p.Lys2014Thr) c.1-25907A>C (n.1-25907A>C) c.5297A>C (p.Lys1766Thr) c.5843A>C (p.Lys1948Thr) c.5660A>C (p.Lys1887Thr) c.5381A>C (p.Lys1794Thr) c.4424A>C (p.Lys1475Thr) c.4415A>C (p.Lys1472Thr) | |
5 | g.37038671A>G | CA359498305 | NIPBL | c.6041A>G (p.Lys2014Arg) c.1-25907A>G (n.1-25907A>G) c.5297A>G (p.Lys1766Arg) c.5843A>G (p.Lys1948Arg) c.5660A>G (p.Lys1887Arg) c.5381A>G (p.Lys1794Arg) c.4424A>G (p.Lys1475Arg) c.4415A>G (p.Lys1472Arg) | |
5 | g.37038671A>T | CA359498310 | NIPBL | c.6041A>T (p.Lys2014Ile) c.1-25907A>T (n.1-25907A>T) c.5297A>T (p.Lys1766Ile) c.5843A>T (p.Lys1948Ile) c.5660A>T (p.Lys1887Ile) c.5381A>T (p.Lys1794Ile) c.4424A>T (p.Lys1475Ile) c.4415A>T (p.Lys1472Ile) | |
5 | g.37038672A>C | CA359498315 | NIPBL | c.6042A>C (p.Lys2014Asn) c.1-25906A>C (n.1-25906A>C) c.5298A>C (p.Lys1766Asn) c.5844A>C (p.Lys1948Asn) c.5661A>C (p.Lys1887Asn) c.5382A>C (p.Lys1794Asn) c.4425A>C (p.Lys1475Asn) c.4416A>C (p.Lys1472Asn) | |
5 | g.37038672A>G | CA443905820 | NIPBL | c.6042A>G (p.Lys2014=) c.1-25906A>G (n.1-25906A>G) c.5298A>G (p.Lys1766=) c.5844A>G (p.Lys1948=) c.5661A>G (p.Lys1887=) c.5382A>G (p.Lys1794=) c.4425A>G (p.Lys1475=) c.4416A>G (p.Lys1472=) | COSMIC COSMIC |
5 | g.37038672A>T | CA359498318 | NIPBL | c.6042A>T (p.Lys2014Asn) c.1-25906A>T (n.1-25906A>T) c.5298A>T (p.Lys1766Asn) c.5844A>T (p.Lys1948Asn) c.5661A>T (p.Lys1887Asn) c.5382A>T (p.Lys1794Asn) c.4425A>T (p.Lys1475Asn) c.4416A>T (p.Lys1472Asn) | |
5 | g.37038673A>C | CA359498324 | NIPBL | c.6043A>C (p.Ile2015Leu) c.1-25905A>C (n.1-25905A>C) c.5299A>C (p.Ile1767Leu) c.5845A>C (p.Ile1949Leu) c.5662A>C (p.Ile1888Leu) c.5383A>C (p.Ile1795Leu) c.4426A>C (p.Ile1476Leu) c.4417A>C (p.Ile1473Leu) | |
5 | g.37038673A>G | CA359498327 | NIPBL | c.6043A>G (p.Ile2015Val) c.1-25905A>G (n.1-25905A>G) c.5299A>G (p.Ile1767Val) c.5845A>G (p.Ile1949Val) c.5662A>G (p.Ile1888Val) c.5383A>G (p.Ile1795Val) c.4426A>G (p.Ile1476Val) c.4417A>G (p.Ile1473Val) | COSMIC COSMIC |
5 | g.37038673A>T | CA359498331 | NIPBL | c.6043A>T (p.Ile2015Leu) c.1-25905A>T (n.1-25905A>T) c.5299A>T (p.Ile1767Leu) c.5845A>T (p.Ile1949Leu) c.5662A>T (p.Ile1888Leu) c.5383A>T (p.Ile1795Leu) c.4426A>T (p.Ile1476Leu) c.4417A>T (p.Ile1473Leu) | |
5 | g.37038674T>A | CA359498342 | NIPBL | c.6044T>A (p.Ile2015Lys) c.1-25904T>A (n.1-25904T>A) c.5300T>A (p.Ile1767Lys) c.5846T>A (p.Ile1949Lys) c.5663T>A (p.Ile1888Lys) c.5384T>A (p.Ile1795Lys) c.4427T>A (p.Ile1476Lys) c.4418T>A (p.Ile1473Lys) | |
5 | g.37038674T>C | CA359498339 | NIPBL | c.6044T>C (p.Ile2015Thr) c.1-25904T>C (n.1-25904T>C) c.5300T>C (p.Ile1767Thr) c.5846T>C (p.Ile1949Thr) c.5663T>C (p.Ile1888Thr) c.5384T>C (p.Ile1795Thr) c.4427T>C (p.Ile1476Thr) c.4418T>C (p.Ile1473Thr) | |
5 | g.37038674T>G | CA359498336 | NIPBL | c.6044T>G (p.Ile2015Arg) c.1-25904T>G (n.1-25904T>G) c.5300T>G (p.Ile1767Arg) c.5846T>G (p.Ile1949Arg) c.5663T>G (p.Ile1888Arg) c.5384T>G (p.Ile1795Arg) c.4427T>G (p.Ile1476Arg) c.4418T>G (p.Ile1473Arg) | |
5 | g.37038675A>C | CA443905821 | NIPBL | c.6045A>C (p.Ile2015=) c.1-25903A>C (n.1-25903A>C) c.5301A>C (p.Ile1767=) c.5847A>C (p.Ile1949=) c.5664A>C (p.Ile1888=) c.5385A>C (p.Ile1795=) c.4428A>C (p.Ile1476=) c.4419A>C (p.Ile1473=) | |
5 | g.37038675A>G | CA359498347 | NIPBL | c.6045A>G (p.Ile2015Met) c.1-25903A>G (n.1-25903A>G) c.5301A>G (p.Ile1767Met) c.5847A>G (p.Ile1949Met) c.5664A>G (p.Ile1888Met) c.5385A>G (p.Ile1795Met) c.4428A>G (p.Ile1476Met) c.4419A>G (p.Ile1473Met) | gnomAD v4 |
5 | g.37038675A>T | CA443905822 | NIPBL | c.6045A>T (p.Ile2015=) c.1-25903A>T (n.1-25903A>T) c.5301A>T (p.Ile1767=) c.5847A>T (p.Ile1949=) c.5664A>T (p.Ile1888=) c.5385A>T (p.Ile1795=) c.4428A>T (p.Ile1476=) c.4419A>T (p.Ile1473=) | |
5 | g.37038676A>C | CA443905823 | NIPBL | c.6046A>C (p.Arg2016=) c.1-25902A>C (n.1-25902A>C) c.5302A>C (p.Arg1768=) c.5848A>C (p.Arg1950=) c.5665A>C (p.Arg1889=) c.5386A>C (p.Arg1796=) c.4429A>C (p.Arg1477=) c.4420A>C (p.Arg1474=) | gnomAD v4 |
5 | g.37038676A>G | CA359498355 | NIPBL | c.6046A>G (p.Arg2016Gly) c.1-25902A>G (n.1-25902A>G) c.5302A>G (p.Arg1768Gly) c.5848A>G (p.Arg1950Gly) c.5665A>G (p.Arg1889Gly) c.5386A>G (p.Arg1796Gly) c.4429A>G (p.Arg1477Gly) c.4420A>G (p.Arg1474Gly) | |
5 | g.37038676A>T | CA359498358 | NIPBL | c.6046A>T (p.Arg2016Ter) c.1-25902A>T (n.1-25902A>T) c.5302A>T (p.Arg1768Ter) c.5848A>T (p.Arg1950Ter) c.5665A>T (p.Arg1889Ter) c.5386A>T (p.Arg1796Ter) c.4429A>T (p.Arg1477Ter) c.4420A>T (p.Arg1474Ter) | |
5 | g.37038677G>A | CA359498362 | NIPBL | c.6047G>A (p.Arg2016Lys) c.1-25901G>A (n.1-25901G>A) c.5303G>A (p.Arg1768Lys) c.5849G>A (p.Arg1950Lys) c.5666G>A (p.Arg1889Lys) c.5387G>A (p.Arg1796Lys) c.4430G>A (p.Arg1477Lys) c.4421G>A (p.Arg1474Lys) | |
5 | g.37038677G>C | CA359498363 | NIPBL | c.6047G>C (p.Arg2016Thr) c.1-25901G>C (n.1-25901G>C) c.5303G>C (p.Arg1768Thr) c.5849G>C (p.Arg1950Thr) c.5666G>C (p.Arg1889Thr) c.5387G>C (p.Arg1796Thr) c.4430G>C (p.Arg1477Thr) c.4421G>C (p.Arg1474Thr) | |
5 | g.37038677G>T | CA359498364 | NIPBL | c.6047G>T (p.Arg2016Ile) c.1-25901G>T (n.1-25901G>T) c.5303G>T (p.Arg1768Ile) c.5849G>T (p.Arg1950Ile) c.5666G>T (p.Arg1889Ile) c.5387G>T (p.Arg1796Ile) c.4430G>T (p.Arg1477Ile) c.4421G>T (p.Arg1474Ile) | |
5 | g.37038678A>C | CA359498365 | NIPBL | c.6048A>C (p.Arg2016Ser) c.1-25900A>C (n.1-25900A>C) c.5304A>C (p.Arg1768Ser) c.5850A>C (p.Arg1950Ser) c.5667A>C (p.Arg1889Ser) c.5388A>C (p.Arg1796Ser) c.4431A>C (p.Arg1477Ser) c.4422A>C (p.Arg1474Ser) | |
5 | g.37038678A>G | CA443905824 | NIPBL | c.6048A>G (p.Arg2016=) c.1-25900A>G (n.1-25900A>G) c.5304A>G (p.Arg1768=) c.5850A>G (p.Arg1950=) c.5667A>G (p.Arg1889=) c.5388A>G (p.Arg1796=) c.4431A>G (p.Arg1477=) c.4422A>G (p.Arg1474=) | |
5 | g.37038678A>T | CA359498368 | NIPBL | c.6048A>T (p.Arg2016Ser) c.1-25900A>T (n.1-25900A>T) c.5304A>T (p.Arg1768Ser) c.5850A>T (p.Arg1950Ser) c.5667A>T (p.Arg1889Ser) c.5388A>T (p.Arg1796Ser) c.4431A>T (p.Arg1477Ser) c.4422A>T (p.Arg1474Ser) | |
5 | g.37038679C>A | CA359498370 | NIPBL | c.6049C>A (p.Pro2017Thr) c.1-25899C>A (n.1-25899C>A) c.5305C>A (p.Pro1769Thr) c.5851C>A (p.Pro1951Thr) c.5668C>A (p.Pro1890Thr) c.5389C>A (p.Pro1797Thr) c.4432C>A (p.Pro1478Thr) c.4423C>A (p.Pro1475Thr) | |
5 | g.37038679C>G | CA359498376 | NIPBL | c.6049C>G (p.Pro2017Ala) c.1-25899C>G (n.1-25899C>G) c.5305C>G (p.Pro1769Ala) c.5851C>G (p.Pro1951Ala) c.5668C>G (p.Pro1890Ala) c.5389C>G (p.Pro1797Ala) c.4432C>G (p.Pro1478Ala) c.4423C>G (p.Pro1475Ala) | |
5 | g.37038679C>T | CA359498379 | NIPBL | c.6049C>T (p.Pro2017Ser) c.1-25899C>T (n.1-25899C>T) c.5305C>T (p.Pro1769Ser) c.5851C>T (p.Pro1951Ser) c.5668C>T (p.Pro1890Ser) c.5389C>T (p.Pro1797Ser) c.4432C>T (p.Pro1478Ser) c.4423C>T (p.Pro1475Ser) | |
5 | g.37038680C>A | CA359498406 | NIPBL | c.6050C>A (p.Pro2017His) c.1-25898C>A (n.1-25898C>A) c.5306C>A (p.Pro1769His) c.5852C>A (p.Pro1951His) c.5669C>A (p.Pro1890His) c.5390C>A (p.Pro1797His) c.4433C>A (p.Pro1478His) c.4424C>A (p.Pro1475His) | |
5 | g.37038680C>G | CA359498402 | NIPBL | c.6050C>G (p.Pro2017Arg) c.1-25898C>G (n.1-25898C>G) c.5306C>G (p.Pro1769Arg) c.5852C>G (p.Pro1951Arg) c.5669C>G (p.Pro1890Arg) c.5390C>G (p.Pro1797Arg) c.4433C>G (p.Pro1478Arg) c.4424C>G (p.Pro1475Arg) | |
5 | g.37038680C>T | CA359498393 | NIPBL | c.6050C>T (p.Pro2017Leu) c.1-25898C>T (n.1-25898C>T) c.5306C>T (p.Pro1769Leu) c.5852C>T (p.Pro1951Leu) c.5669C>T (p.Pro1890Leu) c.5390C>T (p.Pro1797Leu) c.4433C>T (p.Pro1478Leu) c.4424C>T (p.Pro1475Leu) | |
5 | g.37038681C>A | CA443905826 | NIPBL | c.6051C>A (p.Pro2017=) c.1-25897C>A (n.1-25897C>A) c.5307C>A (p.Pro1769=) c.5853C>A (p.Pro1951=) c.5670C>A (p.Pro1890=) c.5391C>A (p.Pro1797=) c.4434C>A (p.Pro1478=) c.4425C>A (p.Pro1475=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37038681C= | CA1539611504 | NIPBL | c.6051C= (p.Pro2017=) c.1-25897C= (n.1-25897C=) c.5307C= (p.Pro1769=) c.5853C= (p.Pro1951=) c.5670C= (p.Pro1890=) c.5391C= (p.Pro1797=) c.4434C= (p.Pro1478=) c.4425C= (p.Pro1475=) | |
5 | g.37038681C>G | CA117038359 | NIPBL | c.6051C>G (p.Pro2017=) c.1-25897C>G (n.1-25897C>G) c.5307C>G (p.Pro1769=) c.5853C>G (p.Pro1951=) c.5670C>G (p.Pro1890=) c.5391C>G (p.Pro1797=) c.4434C>G (p.Pro1478=) c.4425C>G (p.Pro1475=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37038681C>T | CA443905827 | NIPBL | c.6051C>T (p.Pro2017=) c.1-25897C>T (n.1-25897C>T) c.5307C>T (p.Pro1769=) c.5853C>T (p.Pro1951=) c.5670C>T (p.Pro1890=) c.5391C>T (p.Pro1797=) c.4434C>T (p.Pro1478=) c.4425C>T (p.Pro1475=) | |
5 | g.37038682C>A | CA359498410 | NIPBL | c.6052C>A (p.Gln2018Lys) c.1-25896C>A (n.1-25896C>A) c.5308C>A (p.Gln1770Lys) c.5854C>A (p.Gln1952Lys) c.5671C>A (p.Gln1891Lys) c.5392C>A (p.Gln1798Lys) c.4435C>A (p.Gln1479Lys) c.4426C>A (p.Gln1476Lys) | |
5 | g.37038682C>G | CA359498412 | NIPBL | c.6052C>G (p.Gln2018Glu) c.1-25896C>G (n.1-25896C>G) c.5308C>G (p.Gln1770Glu) c.5854C>G (p.Gln1952Glu) c.5671C>G (p.Gln1891Glu) c.5392C>G (p.Gln1798Glu) c.4435C>G (p.Gln1479Glu) c.4426C>G (p.Gln1476Glu) | |
5 | g.37038682C>T | CA359498415 | NIPBL | c.6052C>T (p.Gln2018Ter) c.1-25896C>T (n.1-25896C>T) c.5308C>T (p.Gln1770Ter) c.5854C>T (p.Gln1952Ter) c.5671C>T (p.Gln1891Ter) c.5392C>T (p.Gln1798Ter) c.4435C>T (p.Gln1479Ter) c.4426C>T (p.Gln1476Ter) | |
5 | g.37038683A>C | CA359498419 | NIPBL | c.6053A>C (p.Gln2018Pro) c.1-25895A>C (n.1-25895A>C) c.5309A>C (p.Gln1770Pro) c.5855A>C (p.Gln1952Pro) c.5672A>C (p.Gln1891Pro) c.5393A>C (p.Gln1798Pro) c.4436A>C (p.Gln1479Pro) c.4427A>C (p.Gln1476Pro) | |
5 | g.37038683A>G | CA359498422 | NIPBL | c.6053A>G (p.Gln2018Arg) c.1-25895A>G (n.1-25895A>G) c.5309A>G (p.Gln1770Arg) c.5855A>G (p.Gln1952Arg) c.5672A>G (p.Gln1891Arg) c.5393A>G (p.Gln1798Arg) c.4436A>G (p.Gln1479Arg) c.4427A>G (p.Gln1476Arg) | |
5 | g.37038683A>T | CA359498426 | NIPBL | c.6053A>T (p.Gln2018Leu) c.1-25895A>T (n.1-25895A>T) c.5309A>T (p.Gln1770Leu) c.5855A>T (p.Gln1952Leu) c.5672A>T (p.Gln1891Leu) c.5393A>T (p.Gln1798Leu) c.4436A>T (p.Gln1479Leu) c.4427A>T (p.Gln1476Leu) | |
5 | g.37038684G>A | CA443905828 | NIPBL | c.6054G>A (p.Gln2018=) c.1-25894G>A (n.1-25894G>A) c.5310G>A (p.Gln1770=) c.5856G>A (p.Gln1952=) c.5673G>A (p.Gln1891=) c.5394G>A (p.Gln1798=) c.4437G>A (p.Gln1479=) c.4428G>A (p.Gln1476=) | |
5 | g.37038684G>C | CA359498447 | NIPBL | c.6054G>C (p.Gln2018His) c.1-25894G>C (n.1-25894G>C) c.5310G>C (p.Gln1770His) c.5856G>C (p.Gln1952His) c.5673G>C (p.Gln1891His) c.5394G>C (p.Gln1798His) c.4437G>C (p.Gln1479His) c.4428G>C (p.Gln1476His) | |
5 | g.37038684G>T | CA359498456 | NIPBL | c.6054G>T (p.Gln2018His) c.1-25894G>T (n.1-25894G>T) c.5310G>T (p.Gln1770His) c.5856G>T (p.Gln1952His) c.5673G>T (p.Gln1891His) c.5394G>T (p.Gln1798His) c.4437G>T (p.Gln1479His) c.4428G>T (p.Gln1476His) | |
5 | g.37038685C>A | CA359498459 | NIPBL | c.6055C>A (p.Leu2019Ile) c.1-25893C>A (n.1-25893C>A) c.5311C>A (p.Leu1771Ile) c.5857C>A (p.Leu1953Ile) c.5674C>A (p.Leu1892Ile) c.5395C>A (p.Leu1799Ile) c.4438C>A (p.Leu1480Ile) c.4429C>A (p.Leu1477Ile) | |
5 | g.37038685C>G | CA359498464 | NIPBL | c.6055C>G (p.Leu2019Val) c.1-25893C>G (n.1-25893C>G) c.5311C>G (p.Leu1771Val) c.5857C>G (p.Leu1953Val) c.5674C>G (p.Leu1892Val) c.5395C>G (p.Leu1799Val) c.4438C>G (p.Leu1480Val) c.4429C>G (p.Leu1477Val) | |
5 | g.37038685C>T | CA359498473 | NIPBL | c.6055C>T (p.Leu2019Phe) c.1-25893C>T (n.1-25893C>T) c.5311C>T (p.Leu1771Phe) c.5857C>T (p.Leu1953Phe) c.5674C>T (p.Leu1892Phe) c.5395C>T (p.Leu1799Phe) c.4438C>T (p.Leu1480Phe) c.4429C>T (p.Leu1477Phe) | |
5 | g.37038686T>A | CA359498488 | NIPBL | c.6056T>A (p.Leu2019His) c.1-25892T>A (n.1-25892T>A) c.5312T>A (p.Leu1771His) c.5858T>A (p.Leu1953His) c.5675T>A (p.Leu1892His) c.5396T>A (p.Leu1799His) c.4439T>A (p.Leu1480His) c.4430T>A (p.Leu1477His) | |
5 | g.37038686T>C | CA359498484 | NIPBL | c.6056T>C (p.Leu2019Pro) c.1-25892T>C (n.1-25892T>C) c.5312T>C (p.Leu1771Pro) c.5858T>C (p.Leu1953Pro) c.5675T>C (p.Leu1892Pro) c.5396T>C (p.Leu1799Pro) c.4439T>C (p.Leu1480Pro) c.4430T>C (p.Leu1477Pro) | |
5 | g.37038686T>G | CA359498481 | NIPBL | c.6056T>G (p.Leu2019Arg) c.1-25892T>G (n.1-25892T>G) c.5312T>G (p.Leu1771Arg) c.5858T>G (p.Leu1953Arg) c.5675T>G (p.Leu1892Arg) c.5396T>G (p.Leu1799Arg) c.4439T>G (p.Leu1480Arg) c.4430T>G (p.Leu1477Arg) | |
5 | g.37038687C>A | CA443905829 | NIPBL | c.6057C>A (p.Leu2019=) c.1-25891C>A (n.1-25891C>A) c.5313C>A (p.Leu1771=) c.5859C>A (p.Leu1953=) c.5676C>A (p.Leu1892=) c.5397C>A (p.Leu1799=) c.4440C>A (p.Leu1480=) c.4431C>A (p.Leu1477=) | |
5 | g.37038687C= | CA1539611507 | NIPBL | c.6057C= (p.Leu2019=) c.1-25891C= (n.1-25891C=) c.5313C= (p.Leu1771=) c.5859C= (p.Leu1953=) c.5676C= (p.Leu1892=) c.5397C= (p.Leu1799=) c.4440C= (p.Leu1480=) c.4431C= (p.Leu1477=) | |
5 | g.37038687C>G | CA443905830 | NIPBL | c.6057C>G (p.Leu2019=) c.1-25891C>G (n.1-25891C>G) c.5313C>G (p.Leu1771=) c.5859C>G (p.Leu1953=) c.5676C>G (p.Leu1892=) c.5397C>G (p.Leu1799=) c.4440C>G (p.Leu1480=) c.4431C>G (p.Leu1477=) | |
5 | g.37038687C>T | CA179886 | NIPBL | c.6057C>T (p.Leu2019=) c.1-25891C>T (n.1-25891C>T) c.5313C>T (p.Leu1771=) c.5859C>T (p.Leu1953=) c.5676C>T (p.Leu1892=) c.5397C>T (p.Leu1799=) c.4440C>T (p.Leu1480=) c.4431C>T (p.Leu1477=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.37038688A>C | CA359498496 | NIPBL | c.6058A>C (p.Met2020Leu) c.1-25890A>C (n.1-25890A>C) c.5314A>C (p.Met1772Leu) c.5860A>C (p.Met1954Leu) c.5677A>C (p.Met1893Leu) c.5398A>C (p.Met1800Leu) c.4441A>C (p.Met1481Leu) c.4432A>C (p.Met1478Leu) | gnomAD v4 |
5 | g.37038688A>G | CA359498498 | NIPBL | c.6058A>G (p.Met2020Val) c.1-25890A>G (n.1-25890A>G) c.5314A>G (p.Met1772Val) c.5860A>G (p.Met1954Val) c.5677A>G (p.Met1893Val) c.5398A>G (p.Met1800Val) c.4441A>G (p.Met1481Val) c.4432A>G (p.Met1478Val) | gnomAD v4 |
5 | g.37038688A>T | CA359498502 | NIPBL | c.6058A>T (p.Met2020Leu) c.1-25890A>T (n.1-25890A>T) c.5314A>T (p.Met1772Leu) c.5860A>T (p.Met1954Leu) c.5677A>T (p.Met1893Leu) c.5398A>T (p.Met1800Leu) c.4441A>T (p.Met1481Leu) c.4432A>T (p.Met1478Leu) |