| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37038557A>G | CA2578289618 | NIPBL | c.5972-45A>G (n.5972-45A>G) c.1-26021A>G (n.1-26021A>G) c.5228-45A>G (n.5228-45A>G) c.5774-45A>G (n.5774-45A>G) c.5591-45A>G (n.5591-45A>G) c.5312-45A>G (n.5312-45A>G) c.4355-45A>G (n.4355-45A>G) c.4346-45A>G (n.4346-45A>G) | gnomAD v4 |
| 5 | g.37038558C= | CA1539611449 | NIPBL | c.5972-44C= (n.5972-44C=) c.1-26020C= (n.1-26020C=) c.5228-44C= (n.5228-44C=) c.5774-44C= (n.5774-44C=) c.5591-44C= (n.5591-44C=) c.5312-44C= (n.5312-44C=) c.4355-44C= (n.4355-44C=) c.4346-44C= (n.4346-44C=) | |
| 5 | g.37038558C>G | CA2740629795 | NIPBL | c.5972-44C>G (n.5972-44C>G) c.1-26020C>G (n.1-26020C>G) c.5228-44C>G (n.5228-44C>G) c.5774-44C>G (n.5774-44C>G) c.5591-44C>G (n.5591-44C>G) c.5312-44C>G (n.5312-44C>G) c.4355-44C>G (n.4355-44C>G) c.4346-44C>G (n.4346-44C>G) | |
| 5 | g.37038558C>T | CA117038288 | NIPBL | c.5972-44C>T (n.5972-44C>T) c.1-26020C>T (n.1-26020C>T) c.5228-44C>T (n.5228-44C>T) c.5774-44C>T (n.5774-44C>T) c.5591-44C>T (n.5591-44C>T) c.5312-44C>T (n.5312-44C>T) c.4355-44C>T (n.4355-44C>T) c.4346-44C>T (n.4346-44C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37038559C= | CA1539611450 | NIPBL | c.5972-43C= (n.5972-43C=) c.1-26019C= (n.1-26019C=) c.5228-43C= (n.5228-43C=) c.5774-43C= (n.5774-43C=) c.5591-43C= (n.5591-43C=) c.5312-43C= (n.5312-43C=) c.4355-43C= (n.4355-43C=) c.4346-43C= (n.4346-43C=) | |
| 5 | g.37038559C>G | CA2673577238 | NIPBL | c.5972-43C>G (n.5972-43C>G) c.1-26019C>G (n.1-26019C>G) c.5228-43C>G (n.5228-43C>G) c.5774-43C>G (n.5774-43C>G) c.5591-43C>G (n.5591-43C>G) c.5312-43C>G (n.5312-43C>G) c.4355-43C>G (n.4355-43C>G) c.4346-43C>G (n.4346-43C>G) | gnomAD v4 |
| 5 | g.37038559C>T | CA2578289619 | NIPBL | c.5972-43C>T (n.5972-43C>T) c.1-26019C>T (n.1-26019C>T) c.5228-43C>T (n.5228-43C>T) c.5774-43C>T (n.5774-43C>T) c.5591-43C>T (n.5591-43C>T) c.5312-43C>T (n.5312-43C>T) c.4355-43C>T (n.4355-43C>T) c.4346-43C>T (n.4346-43C>T) | |
| 5 | g.37038560T>G | CA1539611452 | NIPBL | c.5972-42T>G (n.5972-42T>G) c.1-26018T>G (n.1-26018T>G) c.5228-42T>G (n.5228-42T>G) c.5774-42T>G (n.5774-42T>G) c.5591-42T>G (n.5591-42T>G) c.5312-42T>G (n.5312-42T>G) c.4355-42T>G (n.4355-42T>G) c.4346-42T>G (n.4346-42T>G) | dbSNP gnomAD v4 |
| 5 | g.37038560T= | CA1539611451 | NIPBL | c.5972-42T= (n.5972-42T=) c.1-26018T= (n.1-26018T=) c.5228-42T= (n.5228-42T=) c.5774-42T= (n.5774-42T=) c.5591-42T= (n.5591-42T=) c.5312-42T= (n.5312-42T=) c.4355-42T= (n.4355-42T=) c.4346-42T= (n.4346-42T=) | |
| 5 | g.37038561dup | CA117038296 | NIPBL | c.5972-41dup (n.5972-41dup) c.1-26017dup (n.1-26017dup) c.5228-41dup (n.5228-41dup) c.5774-41dup (n.5774-41dup) c.5591-41dup (n.5591-41dup) c.5312-41dup (n.5312-41dup) c.4355-41dup (n.4355-41dup) c.4346-41dup (n.4346-41dup) | dbSNP gnomAD v4 |
| 5 | g.37038562G>A | CA2673577243 | NIPBL | c.5972-40G>A (n.5972-40G>A) c.1-26016G>A (n.1-26016G>A) c.5228-40G>A (n.5228-40G>A) c.5774-40G>A (n.5774-40G>A) c.5591-40G>A (n.5591-40G>A) c.5312-40G>A (n.5312-40G>A) c.4355-40G>A (n.4355-40G>A) c.4346-40G>A (n.4346-40G>A) | gnomAD v4 |
| 5 | g.37038564C>A | CA2578289620 | NIPBL | c.5972-38C>A (n.5972-38C>A) c.1-26014C>A (n.1-26014C>A) c.5228-38C>A (n.5228-38C>A) c.5774-38C>A (n.5774-38C>A) c.5591-38C>A (n.5591-38C>A) c.5312-38C>A (n.5312-38C>A) c.4355-38C>A (n.4355-38C>A) c.4346-38C>A (n.4346-38C>A) | gnomAD v4 |
| 5 | g.37038564C>G | CA2673577244 | NIPBL | c.5972-38C>G (n.5972-38C>G) c.1-26014C>G (n.1-26014C>G) c.5228-38C>G (n.5228-38C>G) c.5774-38C>G (n.5774-38C>G) c.5591-38C>G (n.5591-38C>G) c.5312-38C>G (n.5312-38C>G) c.4355-38C>G (n.4355-38C>G) c.4346-38C>G (n.4346-38C>G) | gnomAD v4 |
| 5 | g.37038564C>T | CA2673577245 | NIPBL | c.5972-38C>T (n.5972-38C>T) c.1-26014C>T (n.1-26014C>T) c.5228-38C>T (n.5228-38C>T) c.5774-38C>T (n.5774-38C>T) c.5591-38C>T (n.5591-38C>T) c.5312-38C>T (n.5312-38C>T) c.4355-38C>T (n.4355-38C>T) c.4346-38C>T (n.4346-38C>T) | gnomAD v4 |
| 5 | g.37038565A= | CA1539611454 | NIPBL | c.5972-37A= (n.5972-37A=) c.1-26013A= (n.1-26013A=) c.5228-37A= (n.5228-37A=) c.5774-37A= (n.5774-37A=) c.5591-37A= (n.5591-37A=) c.5312-37A= (n.5312-37A=) c.4355-37A= (n.4355-37A=) c.4346-37A= (n.4346-37A=) | |
| 5 | g.37038565A>G | CA559020399 | NIPBL | c.5972-37A>G (n.5972-37A>G) c.1-26013A>G (n.1-26013A>G) c.5228-37A>G (n.5228-37A>G) c.5774-37A>G (n.5774-37A>G) c.5591-37A>G (n.5591-37A>G) c.5312-37A>G (n.5312-37A>G) c.4355-37A>G (n.4355-37A>G) c.4346-37A>G (n.4346-37A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37038565A>T | CA1539611453 | NIPBL | c.5972-37A>T (n.5972-37A>T) c.1-26013A>T (n.1-26013A>T) c.5228-37A>T (n.5228-37A>T) c.5774-37A>T (n.5774-37A>T) c.5591-37A>T (n.5591-37A>T) c.5312-37A>T (n.5312-37A>T) c.4355-37A>T (n.4355-37A>T) c.4346-37A>T (n.4346-37A>T) | dbSNP |
| 5 | g.37038567A= | CA1539611455 | NIPBL | c.5972-35A= (n.5972-35A=) c.1-26011A= (n.1-26011A=) c.5228-35A= (n.5228-35A=) c.5774-35A= (n.5774-35A=) c.5591-35A= (n.5591-35A=) c.5312-35A= (n.5312-35A=) c.4355-35A= (n.4355-35A=) c.4346-35A= (n.4346-35A=) | |
| 5 | g.37038567A>G | CA559020400 | NIPBL | c.5972-35A>G (n.5972-35A>G) c.1-26011A>G (n.1-26011A>G) c.5228-35A>G (n.5228-35A>G) c.5774-35A>G (n.5774-35A>G) c.5591-35A>G (n.5591-35A>G) c.5312-35A>G (n.5312-35A>G) c.4355-35A>G (n.4355-35A>G) c.4346-35A>G (n.4346-35A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37038569T>A | CA3236914 | NIPBL | c.5972-33T>A (n.5972-33T>A) c.1-26009T>A (n.1-26009T>A) c.5228-33T>A (n.5228-33T>A) c.5774-33T>A (n.5774-33T>A) c.5591-33T>A (n.5591-33T>A) c.5312-33T>A (n.5312-33T>A) c.4355-33T>A (n.4355-33T>A) c.4346-33T>A (n.4346-33T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37038569T= | CA1539611456 | NIPBL | c.5972-33T= (n.5972-33T=) c.1-26009T= (n.1-26009T=) c.5228-33T= (n.5228-33T=) c.5774-33T= (n.5774-33T=) c.5591-33T= (n.5591-33T=) c.5312-33T= (n.5312-33T=) c.4355-33T= (n.4355-33T=) c.4346-33T= (n.4346-33T=) | |
| 5 | g.37038571T>G | CA2673577250 | NIPBL | c.5972-31T>G (n.5972-31T>G) c.1-26007T>G (n.1-26007T>G) c.5228-31T>G (n.5228-31T>G) c.5774-31T>G (n.5774-31T>G) c.5591-31T>G (n.5591-31T>G) c.5312-31T>G (n.5312-31T>G) c.4355-31T>G (n.4355-31T>G) c.4346-31T>G (n.4346-31T>G) | gnomAD v4 |
| 5 | g.37038572A= | CA1539611457 | NIPBL | c.5972-30A= (n.5972-30A=) c.1-26006A= (n.1-26006A=) c.5228-30A= (n.5228-30A=) c.5774-30A= (n.5774-30A=) c.5591-30A= (n.5591-30A=) c.5312-30A= (n.5312-30A=) c.4355-30A= (n.4355-30A=) c.4346-30A= (n.4346-30A=) | |
| 5 | g.37038572A>G | CA559020402 | NIPBL | c.5972-30A>G (n.5972-30A>G) c.1-26006A>G (n.1-26006A>G) c.5228-30A>G (n.5228-30A>G) c.5774-30A>G (n.5774-30A>G) c.5591-30A>G (n.5591-30A>G) c.5312-30A>G (n.5312-30A>G) c.4355-30A>G (n.4355-30A>G) c.4346-30A>G (n.4346-30A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37038572A>T | CA2673577252 | NIPBL | c.5972-30A>T (n.5972-30A>T) c.1-26006A>T (n.1-26006A>T) c.5228-30A>T (n.5228-30A>T) c.5774-30A>T (n.5774-30A>T) c.5591-30A>T (n.5591-30A>T) c.5312-30A>T (n.5312-30A>T) c.4355-30A>T (n.4355-30A>T) c.4346-30A>T (n.4346-30A>T) | gnomAD v4 |
| 5 | g.37038573G>C | CA2673577253 | NIPBL | c.5972-29G>C (n.5972-29G>C) c.1-26005G>C (n.1-26005G>C) c.5228-29G>C (n.5228-29G>C) c.5774-29G>C (n.5774-29G>C) c.5591-29G>C (n.5591-29G>C) c.5312-29G>C (n.5312-29G>C) c.4355-29G>C (n.4355-29G>C) c.4346-29G>C (n.4346-29G>C) | gnomAD v4 |
| 5 | g.37038574T>C | CA2673577254 | NIPBL | c.5972-28T>C (n.5972-28T>C) c.1-26004T>C (n.1-26004T>C) c.5228-28T>C (n.5228-28T>C) c.5774-28T>C (n.5774-28T>C) c.5591-28T>C (n.5591-28T>C) c.5312-28T>C (n.5312-28T>C) c.4355-28T>C (n.4355-28T>C) c.4346-28T>C (n.4346-28T>C) | gnomAD v4 |
| 5 | g.37038577C>A | CA2673577256 | NIPBL | c.5972-25C>A (n.5972-25C>A) c.1-26001C>A (n.1-26001C>A) c.5228-25C>A (n.5228-25C>A) c.5774-25C>A (n.5774-25C>A) c.5591-25C>A (n.5591-25C>A) c.5312-25C>A (n.5312-25C>A) c.4355-25C>A (n.4355-25C>A) c.4346-25C>A (n.4346-25C>A) | gnomAD v4 |
| 5 | g.37038577C>G | CA2673577255 | NIPBL | c.5972-25C>G (n.5972-25C>G) c.1-26001C>G (n.1-26001C>G) c.5228-25C>G (n.5228-25C>G) c.5774-25C>G (n.5774-25C>G) c.5591-25C>G (n.5591-25C>G) c.5312-25C>G (n.5312-25C>G) c.4355-25C>G (n.4355-25C>G) c.4346-25C>G (n.4346-25C>G) | gnomAD v4 |
| 5 | g.37038578T>C | CA2578289641 | NIPBL | c.5972-24T>C (n.5972-24T>C) c.1-26000T>C (n.1-26000T>C) c.5228-24T>C (n.5228-24T>C) c.5774-24T>C (n.5774-24T>C) c.5591-24T>C (n.5591-24T>C) c.5312-24T>C (n.5312-24T>C) c.4355-24T>C (n.4355-24T>C) c.4346-24T>C (n.4346-24T>C) | |
| 5 | g.37038580A= | CA1539611458 | NIPBL | c.5972-22A= (n.5972-22A=) c.1-25998A= (n.1-25998A=) c.5228-22A= (n.5228-22A=) c.5774-22A= (n.5774-22A=) c.5591-22A= (n.5591-22A=) c.5312-22A= (n.5312-22A=) c.4355-22A= (n.4355-22A=) c.4346-22A= (n.4346-22A=) | |
| 5 | g.37038580A>G | CA559020404 | NIPBL | c.5972-22A>G (n.5972-22A>G) c.1-25998A>G (n.1-25998A>G) c.5228-22A>G (n.5228-22A>G) c.5774-22A>G (n.5774-22A>G) c.5591-22A>G (n.5591-22A>G) c.5312-22A>G (n.5312-22A>G) c.4355-22A>G (n.4355-22A>G) c.4346-22A>G (n.4346-22A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37038582_37038584delinsTTC | CA1539611459 | NIPBL | c.5972-20_5972-18delinsTTC (n.5972-20_5972-18delinsTTC) c.1-25996_1-25994delinsTTC (n.1-25996_1-25994delinsTTC) c.5228-20_5228-18delinsTTC (n.5228-20_5228-18delinsTTC) c.5774-20_5774-18delinsTTC (n.5774-20_5774-18delinsTTC) c.5591-20_5591-18delinsTTC (n.5591-20_5591-18delinsTTC) c.5312-20_5312-18delinsTTC (n.5312-20_5312-18delinsTTC) c.4355-20_4355-18delinsTTC (n.4355-20_4355-18delinsTTC) c.4346-20_4346-18delinsTTC (n.4346-20_4346-18delinsTTC) | |
| 5 | g.37038586_37038587del | CA810299032 | NIPBL | c.5972-16_5972-15del (n.5972-16_5972-15del) c.1-25992_1-25991del (n.1-25992_1-25991del) c.5228-16_5228-15del (n.5228-16_5228-15del) c.5774-16_5774-15del (n.5774-16_5774-15del) c.5591-16_5591-15del (n.5591-16_5591-15del) c.5312-16_5312-15del (n.5312-16_5312-15del) c.4355-16_4355-15del (n.4355-16_4355-15del) c.4346-16_4346-15del (n.4346-16_4346-15del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37038584del | CA2578289642 | NIPBL | c.5972-18del (n.5972-18del) c.1-25994del (n.1-25994del) c.5228-18del (n.5228-18del) c.5774-18del (n.5774-18del) c.5591-18del (n.5591-18del) c.5312-18del (n.5312-18del) c.4355-18del (n.4355-18del) c.4346-18del (n.4346-18del) | |
| 5 | g.37038584C= | CA1539611461 | NIPBL | c.5972-18C= (n.5972-18C=) c.1-25994C= (n.1-25994C=) c.5228-18C= (n.5228-18C=) c.5774-18C= (n.5774-18C=) c.5591-18C= (n.5591-18C=) c.5312-18C= (n.5312-18C=) c.4355-18C= (n.4355-18C=) c.4346-18C= (n.4346-18C=) | |
| 5 | g.37038584C>G | CA559020406 | NIPBL | c.5972-18C>G (n.5972-18C>G) c.1-25994C>G (n.1-25994C>G) c.5228-18C>G (n.5228-18C>G) c.5774-18C>G (n.5774-18C>G) c.5591-18C>G (n.5591-18C>G) c.5312-18C>G (n.5312-18C>G) c.4355-18C>G (n.4355-18C>G) c.4346-18C>G (n.4346-18C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37038584C>T | CA1539611460 | NIPBL | c.5972-18C>T (n.5972-18C>T) c.1-25994C>T (n.1-25994C>T) c.5228-18C>T (n.5228-18C>T) c.5774-18C>T (n.5774-18C>T) c.5591-18C>T (n.5591-18C>T) c.5312-18C>T (n.5312-18C>T) c.4355-18C>T (n.4355-18C>T) c.4346-18C>T (n.4346-18C>T) | dbSNP |
| 5 | g.37038586C= | CA1539611463 | NIPBL | c.5972-16C= (n.5972-16C=) c.1-25992C= (n.1-25992C=) c.5228-16C= (n.5228-16C=) c.5774-16C= (n.5774-16C=) c.5591-16C= (n.5591-16C=) c.5312-16C= (n.5312-16C=) c.4355-16C= (n.4355-16C=) c.4346-16C= (n.4346-16C=) | |
| 5 | g.37038586C>T | CA1539611464 | NIPBL | c.5972-16C>T (n.5972-16C>T) c.1-25992C>T (n.1-25992C>T) c.5228-16C>T (n.5228-16C>T) c.5774-16C>T (n.5774-16C>T) c.5591-16C>T (n.5591-16C>T) c.5312-16C>T (n.5312-16C>T) c.4355-16C>T (n.4355-16C>T) c.4346-16C>T (n.4346-16C>T) | dbSNP |
| 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 |