| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37045478G>A | CA359504177 | NIPBL | c.6379G>A (p.Asp2127Asn) c.1-19100G>A (n.1-19100G>A) c.5635G>A (p.Asp1879Asn) c.6181G>A (p.Asp2061Asn) c.5998G>A (p.Asp2000Asn) c.5719G>A (p.Asp1907Asn) c.4762G>A (p.Asp1588Asn) c.4753G>A (p.Asp1585Asn) | |
| 5 | g.37045478G>C | CA359504180 | NIPBL | c.6379G>C (p.Asp2127His) c.1-19100G>C (n.1-19100G>C) c.5635G>C (p.Asp1879His) c.6181G>C (p.Asp2061His) c.5998G>C (p.Asp2000His) c.5719G>C (p.Asp1907His) c.4762G>C (p.Asp1588His) c.4753G>C (p.Asp1585His) | |
| 5 | g.37045478G>T | CA359504182 | NIPBL | c.6379G>T (p.Asp2127Tyr) c.1-19100G>T (n.1-19100G>T) c.5635G>T (p.Asp1879Tyr) c.6181G>T (p.Asp2061Tyr) c.5998G>T (p.Asp2000Tyr) c.5719G>T (p.Asp1907Tyr) c.4762G>T (p.Asp1588Tyr) c.4753G>T (p.Asp1585Tyr) | |
| 5 | g.37045479A>C | CA359504190 | NIPBL | c.6380A>C (p.Asp2127Ala) c.1-19099A>C (n.1-19099A>C) c.5636A>C (p.Asp1879Ala) c.6182A>C (p.Asp2061Ala) c.5999A>C (p.Asp2000Ala) c.5720A>C (p.Asp1907Ala) c.4763A>C (p.Asp1588Ala) c.4754A>C (p.Asp1585Ala) | |
| 5 | g.37045479A>G | CA359504184 | NIPBL | c.6380A>G (p.Asp2127Gly) c.1-19099A>G (n.1-19099A>G) c.5636A>G (p.Asp1879Gly) c.6182A>G (p.Asp2061Gly) c.5999A>G (p.Asp2000Gly) c.5720A>G (p.Asp1907Gly) c.4763A>G (p.Asp1588Gly) c.4754A>G (p.Asp1585Gly) | |
| 5 | g.37045479A>T | CA359504188 | NIPBL | c.6380A>T (p.Asp2127Val) c.1-19099A>T (n.1-19099A>T) c.5636A>T (p.Asp1879Val) c.6182A>T (p.Asp2061Val) c.5999A>T (p.Asp2000Val) c.5720A>T (p.Asp1907Val) c.4763A>T (p.Asp1588Val) c.4754A>T (p.Asp1585Val) | |
| 5 | g.37045480C>A | CA359504193 | NIPBL | c.6381C>A (p.Asp2127Glu) c.1-19098C>A (n.1-19098C>A) c.5637C>A (p.Asp1879Glu) c.6183C>A (p.Asp2061Glu) c.6000C>A (p.Asp2000Glu) c.5721C>A (p.Asp1907Glu) c.4764C>A (p.Asp1588Glu) c.4755C>A (p.Asp1585Glu) | |
| 5 | g.37045480C>G | CA359504197 | NIPBL | c.6381C>G (p.Asp2127Glu) c.1-19098C>G (n.1-19098C>G) c.5637C>G (p.Asp1879Glu) c.6183C>G (p.Asp2061Glu) c.6000C>G (p.Asp2000Glu) c.5721C>G (p.Asp1907Glu) c.4764C>G (p.Asp1588Glu) c.4755C>G (p.Asp1585Glu) | |
| 5 | g.37045480C>T | CA443906721 | NIPBL | c.6381C>T (p.Asp2127=) c.1-19098C>T (n.1-19098C>T) c.5637C>T (p.Asp1879=) c.6183C>T (p.Asp2061=) c.6000C>T (p.Asp2000=) c.5721C>T (p.Asp1907=) c.4764C>T (p.Asp1588=) c.4755C>T (p.Asp1585=) | |
| 5 | g.37045481C>A | CA359504200 | NIPBL | c.6382C>A (p.Pro2128Thr) c.1-19097C>A (n.1-19097C>A) c.5638C>A (p.Pro1880Thr) c.6184C>A (p.Pro2062Thr) c.6001C>A (p.Pro2001Thr) c.5722C>A (p.Pro1908Thr) c.4765C>A (p.Pro1589Thr) c.4756C>A (p.Pro1586Thr) | |
| 5 | g.37045481C>G | CA359504202 | NIPBL | c.6382C>G (p.Pro2128Ala) c.1-19097C>G (n.1-19097C>G) c.5638C>G (p.Pro1880Ala) c.6184C>G (p.Pro2062Ala) c.6001C>G (p.Pro2001Ala) c.5722C>G (p.Pro1908Ala) c.4765C>G (p.Pro1589Ala) c.4756C>G (p.Pro1586Ala) | |
| 5 | g.37045481C>T | CA359504203 | NIPBL | c.6382C>T (p.Pro2128Ser) c.1-19097C>T (n.1-19097C>T) c.5638C>T (p.Pro1880Ser) c.6184C>T (p.Pro2062Ser) c.6001C>T (p.Pro2001Ser) c.5722C>T (p.Pro1908Ser) c.4765C>T (p.Pro1589Ser) c.4756C>T (p.Pro1586Ser) | gnomAD v4 |
| 5 | g.37045482C>A | CA359504206 | NIPBL | c.6383C>A (p.Pro2128Gln) c.1-19096C>A (n.1-19096C>A) c.5639C>A (p.Pro1880Gln) c.6185C>A (p.Pro2062Gln) c.6002C>A (p.Pro2001Gln) c.5723C>A (p.Pro1908Gln) c.4766C>A (p.Pro1589Gln) c.4757C>A (p.Pro1586Gln) | |
| 5 | g.37045482C>G | CA359504209 | NIPBL | c.6383C>G (p.Pro2128Arg) c.1-19096C>G (n.1-19096C>G) c.5639C>G (p.Pro1880Arg) c.6185C>G (p.Pro2062Arg) c.6002C>G (p.Pro2001Arg) c.5723C>G (p.Pro1908Arg) c.4766C>G (p.Pro1589Arg) c.4757C>G (p.Pro1586Arg) | gnomAD v4 |
| 5 | g.37045482C>T | CA359504219 | NIPBL | c.6383C>T (p.Pro2128Leu) c.1-19096C>T (n.1-19096C>T) c.5639C>T (p.Pro1880Leu) c.6185C>T (p.Pro2062Leu) c.6002C>T (p.Pro2001Leu) c.5723C>T (p.Pro1908Leu) c.4766C>T (p.Pro1589Leu) c.4757C>T (p.Pro1586Leu) | |
| 5 | g.37045483A= | CA1539618486 | NIPBL | c.6384A= (p.Pro2128=) c.1-19095A= (n.1-19095A=) c.5640A= (p.Pro1880=) c.6186A= (p.Pro2062=) c.6003A= (p.Pro2001=) c.5724A= (p.Pro1908=) c.4767A= (p.Pro1589=) c.4758A= (p.Pro1586=) | |
| 5 | g.37045483A>C | CA117046385 | NIPBL | c.6384A>C (p.Pro2128=) c.1-19095A>C (n.1-19095A>C) c.5640A>C (p.Pro1880=) c.6186A>C (p.Pro2062=) c.6003A>C (p.Pro2001=) c.5724A>C (p.Pro1908=) c.4767A>C (p.Pro1589=) c.4758A>C (p.Pro1586=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37045483A>G | CA443906731 | NIPBL | c.6384A>G (p.Pro2128=) c.1-19095A>G (n.1-19095A>G) c.5640A>G (p.Pro1880=) c.6186A>G (p.Pro2062=) c.6003A>G (p.Pro2001=) c.5724A>G (p.Pro1908=) c.4767A>G (p.Pro1589=) c.4758A>G (p.Pro1586=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37045483A>T | CA443906734 | NIPBL | c.6384A>T (p.Pro2128=) c.1-19095A>T (n.1-19095A>T) c.5640A>T (p.Pro1880=) c.6186A>T (p.Pro2062=) c.6003A>T (p.Pro2001=) c.5724A>T (p.Pro1908=) c.4767A>T (p.Pro1589=) c.4758A>T (p.Pro1586=) | |
| 5 | g.37045484A>C | CA359504223 | NIPBL | c.6385A>C (p.Asn2129His) c.1-19094A>C (n.1-19094A>C) c.5641A>C (p.Asn1881His) c.6187A>C (p.Asn2063His) c.6004A>C (p.Asn2002His) c.5725A>C (p.Asn1909His) c.4768A>C (p.Asn1590His) c.4759A>C (p.Asn1587His) | |
| 5 | g.37045484A>G | CA359504224 | NIPBL | c.6385A>G (p.Asn2129Asp) c.1-19094A>G (n.1-19094A>G) c.5641A>G (p.Asn1881Asp) c.6187A>G (p.Asn2063Asp) c.6004A>G (p.Asn2002Asp) c.5725A>G (p.Asn1909Asp) c.4768A>G (p.Asn1590Asp) c.4759A>G (p.Asn1587Asp) | |
| 5 | g.37045484A>T | CA359504227 | NIPBL | c.6385A>T (p.Asn2129Tyr) c.1-19094A>T (n.1-19094A>T) c.5641A>T (p.Asn1881Tyr) c.6187A>T (p.Asn2063Tyr) c.6004A>T (p.Asn2002Tyr) c.5725A>T (p.Asn1909Tyr) c.4768A>T (p.Asn1590Tyr) c.4759A>T (p.Asn1587Tyr) | |
| 5 | g.37045485A= | CA1539618489 | NIPBL | c.6386A= (p.Asn2129=) c.1-19093A= (n.1-19093A=) c.5642A= (p.Asn1881=) c.6188A= (p.Asn2063=) c.6005A= (p.Asn2002=) c.5726A= (p.Asn1909=) c.4769A= (p.Asn1590=) c.4760A= (p.Asn1587=) | |
| 5 | g.37045485A>C | CA359504235 | NIPBL | c.6386A>C (p.Asn2129Thr) c.1-19093A>C (n.1-19093A>C) c.5642A>C (p.Asn1881Thr) c.6188A>C (p.Asn2063Thr) c.6005A>C (p.Asn2002Thr) c.5726A>C (p.Asn1909Thr) c.4769A>C (p.Asn1590Thr) c.4760A>C (p.Asn1587Thr) | |
| 5 | g.37045485A>G | CA359504236 | NIPBL | c.6386A>G (p.Asn2129Ser) c.1-19093A>G (n.1-19093A>G) c.5642A>G (p.Asn1881Ser) c.6188A>G (p.Asn2063Ser) c.6005A>G (p.Asn2002Ser) c.5726A>G (p.Asn1909Ser) c.4769A>G (p.Asn1590Ser) c.4760A>G (p.Asn1587Ser) | dbSNP COSMIC COSMIC |
| 5 | g.37045485A>T | CA359504232 | NIPBL | c.6386A>T (p.Asn2129Ile) c.1-19093A>T (n.1-19093A>T) c.5642A>T (p.Asn1881Ile) c.6188A>T (p.Asn2063Ile) c.6005A>T (p.Asn2002Ile) c.5726A>T (p.Asn1909Ile) c.4769A>T (p.Asn1590Ile) c.4760A>T (p.Asn1587Ile) | |
| 5 | g.37045486T>A | CA359504238 | NIPBL | c.6387T>A (p.Asn2129Lys) c.1-19092T>A (n.1-19092T>A) c.5643T>A (p.Asn1881Lys) c.6189T>A (p.Asn2063Lys) c.6006T>A (p.Asn2002Lys) c.5727T>A (p.Asn1909Lys) c.4770T>A (p.Asn1590Lys) c.4761T>A (p.Asn1587Lys) | |
| 5 | g.37045486T>C | CA443906748 | NIPBL | c.6387T>C (p.Asn2129=) c.1-19092T>C (n.1-19092T>C) c.5643T>C (p.Asn1881=) c.6189T>C (p.Asn2063=) c.6006T>C (p.Asn2002=) c.5727T>C (p.Asn1909=) c.4770T>C (p.Asn1590=) c.4761T>C (p.Asn1587=) | |
| 5 | g.37045486T>G | CA359504240 | NIPBL | c.6387T>G (p.Asn2129Lys) c.1-19092T>G (n.1-19092T>G) c.5643T>G (p.Asn1881Lys) c.6189T>G (p.Asn2063Lys) c.6006T>G (p.Asn2002Lys) c.5727T>G (p.Asn1909Lys) c.4770T>G (p.Asn1590Lys) c.4761T>G (p.Asn1587Lys) | |
| 5 | g.37045487A>C | CA359504243 | NIPBL | c.6388A>C (p.Asn2130His) c.1-19091A>C (n.1-19091A>C) c.5644A>C (p.Asn1882His) c.6190A>C (p.Asn2064His) c.6007A>C (p.Asn2003His) c.5728A>C (p.Asn1910His) c.4771A>C (p.Asn1591His) c.4762A>C (p.Asn1588His) | |
| 5 | g.37045487A>G | CA359504246 | NIPBL | c.6388A>G (p.Asn2130Asp) c.1-19091A>G (n.1-19091A>G) c.5644A>G (p.Asn1882Asp) c.6190A>G (p.Asn2064Asp) c.6007A>G (p.Asn2003Asp) c.5728A>G (p.Asn1910Asp) c.4771A>G (p.Asn1591Asp) c.4762A>G (p.Asn1588Asp) | |
| 5 | g.37045487A>T | CA359504249 | NIPBL | c.6388A>T (p.Asn2130Tyr) c.1-19091A>T (n.1-19091A>T) c.5644A>T (p.Asn1882Tyr) c.6190A>T (p.Asn2064Tyr) c.6007A>T (p.Asn2003Tyr) c.5728A>T (p.Asn1910Tyr) c.4771A>T (p.Asn1591Tyr) c.4762A>T (p.Asn1588Tyr) | |
| 5 | g.37045488A= | CA1539618494 | NIPBL | c.6389A= (p.Asn2130=) c.1-19090A= (n.1-19090A=) c.5645A= (p.Asn1882=) c.6191A= (p.Asn2064=) c.6008A= (p.Asn2003=) c.5729A= (p.Asn1910=) c.4772A= (p.Asn1591=) c.4763A= (p.Asn1588=) | |
| 5 | g.37045488A>C | CA359504257 | NIPBL | c.6389A>C (p.Asn2130Thr) c.1-19090A>C (n.1-19090A>C) c.5645A>C (p.Asn1882Thr) c.6191A>C (p.Asn2064Thr) c.6008A>C (p.Asn2003Thr) c.5729A>C (p.Asn1910Thr) c.4772A>C (p.Asn1591Thr) c.4763A>C (p.Asn1588Thr) | |
| 5 | g.37045488A>G | CA3236996 | NIPBL | c.6389A>G (p.Asn2130Ser) c.1-19090A>G (n.1-19090A>G) c.5645A>G (p.Asn1882Ser) c.6191A>G (p.Asn2064Ser) c.6008A>G (p.Asn2003Ser) c.5729A>G (p.Asn1910Ser) c.4772A>G (p.Asn1591Ser) c.4763A>G (p.Asn1588Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37045488A>T | CA359504253 | NIPBL | c.6389A>T (p.Asn2130Ile) c.1-19090A>T (n.1-19090A>T) c.5645A>T (p.Asn1882Ile) c.6191A>T (p.Asn2064Ile) c.6008A>T (p.Asn2003Ile) c.5729A>T (p.Asn1910Ile) c.4772A>T (p.Asn1591Ile) c.4763A>T (p.Asn1588Ile) | |
| 5 | g.37045489C>A | CA359504260 | NIPBL | c.6390C>A (p.Asn2130Lys) c.1-19089C>A (n.1-19089C>A) c.5646C>A (p.Asn1882Lys) c.6192C>A (p.Asn2064Lys) c.6009C>A (p.Asn2003Lys) c.5730C>A (p.Asn1910Lys) c.4773C>A (p.Asn1591Lys) c.4764C>A (p.Asn1588Lys) | |
| 5 | g.37045489C= | CA1539618498 | NIPBL | c.6390C= (p.Asn2130=) c.1-19089C= (n.1-19089C=) c.5646C= (p.Asn1882=) c.6192C= (p.Asn2064=) c.6009C= (p.Asn2003=) c.5730C= (p.Asn1910=) c.4773C= (p.Asn1591=) c.4764C= (p.Asn1588=) | |
| 5 | g.37045489C>G | CA359504262 | NIPBL | c.6390C>G (p.Asn2130Lys) c.1-19089C>G (n.1-19089C>G) c.5646C>G (p.Asn1882Lys) c.6192C>G (p.Asn2064Lys) c.6009C>G (p.Asn2003Lys) c.5730C>G (p.Asn1910Lys) c.4773C>G (p.Asn1591Lys) c.4764C>G (p.Asn1588Lys) | |
| 5 | g.37045489C>T | CA3236997 | NIPBL | c.6390C>T (p.Asn2130=) c.1-19089C>T (n.1-19089C>T) c.5646C>T (p.Asn1882=) c.6192C>T (p.Asn2064=) c.6009C>T (p.Asn2003=) c.5730C>T (p.Asn1910=) c.4773C>T (p.Asn1591=) c.4764C>T (p.Asn1588=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37045490A>C | CA359504266 | NIPBL | c.6391A>C (p.Thr2131Pro) c.1-19088A>C (n.1-19088A>C) c.5647A>C (p.Thr1883Pro) c.6193A>C (p.Thr2065Pro) c.6010A>C (p.Thr2004Pro) c.5731A>C (p.Thr1911Pro) c.4774A>C (p.Thr1592Pro) c.4765A>C (p.Thr1589Pro) | gnomAD v4 |
| 5 | g.37045490A>G | CA359504270 | NIPBL | c.6391A>G (p.Thr2131Ala) c.1-19088A>G (n.1-19088A>G) c.5647A>G (p.Thr1883Ala) c.6193A>G (p.Thr2065Ala) c.6010A>G (p.Thr2004Ala) c.5731A>G (p.Thr1911Ala) c.4774A>G (p.Thr1592Ala) c.4765A>G (p.Thr1589Ala) | gnomAD v4 |
| 5 | g.37045490A>T | CA359504271 | NIPBL | c.6391A>T (p.Thr2131Ser) c.1-19088A>T (n.1-19088A>T) c.5647A>T (p.Thr1883Ser) c.6193A>T (p.Thr2065Ser) c.6010A>T (p.Thr2004Ser) c.5731A>T (p.Thr1911Ser) c.4774A>T (p.Thr1592Ser) c.4765A>T (p.Thr1589Ser) | |
| 5 | g.37045491C>A | CA359504274 | NIPBL | c.6392C>A (p.Thr2131Asn) c.1-19087C>A (n.1-19087C>A) c.5648C>A (p.Thr1883Asn) c.6194C>A (p.Thr2065Asn) c.6011C>A (p.Thr2004Asn) c.5732C>A (p.Thr1911Asn) c.4775C>A (p.Thr1592Asn) c.4766C>A (p.Thr1589Asn) | |
| 5 | g.37045491C>G | CA359504280 | NIPBL | c.6392C>G (p.Thr2131Ser) c.1-19087C>G (n.1-19087C>G) c.5648C>G (p.Thr1883Ser) c.6194C>G (p.Thr2065Ser) c.6011C>G (p.Thr2004Ser) c.5732C>G (p.Thr1911Ser) c.4775C>G (p.Thr1592Ser) c.4766C>G (p.Thr1589Ser) | |
| 5 | g.37045491C>T | CA359504277 | NIPBL | c.6392C>T (p.Thr2131Ile) c.1-19087C>T (n.1-19087C>T) c.5648C>T (p.Thr1883Ile) c.6194C>T (p.Thr2065Ile) c.6011C>T (p.Thr2004Ile) c.5732C>T (p.Thr1911Ile) c.4775C>T (p.Thr1592Ile) c.4766C>T (p.Thr1589Ile) | |
| 5 | g.37045492T>A | CA443906775 | NIPBL | c.6393T>A (p.Thr2131=) c.1-19086T>A (n.1-19086T>A) c.5649T>A (p.Thr1883=) c.6195T>A (p.Thr2065=) c.6012T>A (p.Thr2004=) c.5733T>A (p.Thr1911=) c.4776T>A (p.Thr1592=) c.4767T>A (p.Thr1589=) | |
| 5 | g.37045492T>C | CA443906777 | NIPBL | c.6393T>C (p.Thr2131=) c.1-19086T>C (n.1-19086T>C) c.5649T>C (p.Thr1883=) c.6195T>C (p.Thr2065=) c.6012T>C (p.Thr2004=) c.5733T>C (p.Thr1911=) c.4776T>C (p.Thr1592=) c.4767T>C (p.Thr1589=) | |
| 5 | g.37045492T>G | CA443906779 | NIPBL | c.6393T>G (p.Thr2131=) c.1-19086T>G (n.1-19086T>G) c.5649T>G (p.Thr1883=) c.6195T>G (p.Thr2065=) c.6012T>G (p.Thr2004=) c.5733T>G (p.Thr1911=) c.4776T>G (p.Thr1592=) c.4767T>G (p.Thr1589=) | |
| 5 | g.37045493T>A | CA359504283 | NIPBL | c.6394T>A (p.Ser2132Thr) c.1-19085T>A (n.1-19085T>A) c.5650T>A (p.Ser1884Thr) c.6196T>A (p.Ser2066Thr) c.6013T>A (p.Ser2005Thr) c.5734T>A (p.Ser1912Thr) c.4777T>A (p.Ser1593Thr) c.4768T>A (p.Ser1590Thr) |