Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.74740655_74740660dup | CA2579647329 | NEXMIF | c.3905_3910dup (p.Asn1303_Ser1304insThrAsn) | gnomAD v4 |
X | g.74740650T>A | CA413664471 | NEXMIF | c.3907A>T (p.Asn1303Tyr) | |
X | g.74740650T>C | CA413664472 | NEXMIF | c.3907A>G (p.Asn1303Asp) | |
X | g.74740650T>G | CA413664473 | NEXMIF | c.3907A>C (p.Asn1303His) | |
X | g.74740651G>A | CA517466045 | NEXMIF | c.3906C>T (p.Thr1302=) | |
X | g.74740651G>C | CA517466046 | NEXMIF | c.3906C>G (p.Thr1302=) | gnomAD v4 |
X | g.74740651G>T | CA517466047 | NEXMIF | c.3906C>A (p.Thr1302=) | |
X | g.74740652G>A | CA413664474 | NEXMIF | c.3905C>T (p.Thr1302Ile) | |
X | g.74740652G>C | CA413664476 | NEXMIF | c.3905C>G (p.Thr1302Ser) | |
X | g.74740652G>T | CA413664475 | NEXMIF | c.3905C>A (p.Thr1302Asn) | |
X | g.74740653T>A | CA413664477 | NEXMIF | c.3904A>T (p.Thr1302Ser) | |
X | g.74740653T>C | CA413664478 | NEXMIF | c.3904A>G (p.Thr1302Ala) | |
X | g.74740653T>G | CA413664479 | NEXMIF | c.3904A>C (p.Thr1302Pro) | |
X | g.74740654G>A | CA517466054 | NEXMIF | c.3903C>T (p.Asn1301=) | |
X | g.74740654G>C | CA413664480 | NEXMIF | c.3903C>G (p.Asn1301Lys) | |
X | g.74740654G>T | CA413664481 | NEXMIF | c.3903C>A (p.Asn1301Lys) | |
X | g.74740655T>A | CA413664482 | NEXMIF | c.3902A>T (p.Asn1301Ile) | |
X | g.74740655T>C | CA413664483 | NEXMIF | c.3902A>G (p.Asn1301Ser) | |
X | g.74740655T>G | CA413664484 | NEXMIF | c.3902A>C (p.Asn1301Thr) | |
X | g.74740656T>A | CA413664485 | NEXMIF | c.3901A>T (p.Asn1301Tyr) | |
X | g.74740656T>C | CA413664486 | NEXMIF | c.3901A>G (p.Asn1301Asp) | |
X | g.74740656T>G | CA413664487 | NEXMIF | c.3901A>C (p.Asn1301His) | |
X | g.74740657G>A | CA517466055 | NEXMIF | c.3900C>T (p.Thr1300=) | |
X | g.74740657G>C | CA517466056 | NEXMIF | c.3900C>G (p.Thr1300=) | |
X | g.74740657G>T | CA517466057 | NEXMIF | c.3900C>A (p.Thr1300=) | |
X | g.74740658G>A | CA413664488 | NEXMIF | c.3899C>T (p.Thr1300Ile) | |
X | g.74740658G>C | CA413664490 | NEXMIF | c.3899C>G (p.Thr1300Ser) | |
X | g.74740658G>T | CA413664489 | NEXMIF | c.3899C>A (p.Thr1300Asn) | |
X | g.74740658_74740659insCAT | CA2570376042 | NEXMIF | c.3898_3899insATG (p.Thr1300delinsAsnAla) | |
X | g.74740659T>A | CA413664491 | NEXMIF | c.3898A>T (p.Thr1300Ser) | |
X | g.74740659T>C | CA413664492 | NEXMIF | c.3898A>G (p.Thr1300Ala) | |
X | g.74740659T>G | CA413664493 | NEXMIF | c.3898A>C (p.Thr1300Pro) | |
X | g.74740660G>A | CA10454895 | NEXMIF | c.3897C>T (p.Gly1299=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74740660G>C | CA517466061 | NEXMIF | c.3897C>G (p.Gly1299=) | |
X | g.74740660G= | CA2437590082 | NEXMIF | c.3897C= (p.Gly1299=) | |
X | g.74740660G>T | CA517466060 | NEXMIF | c.3897C>A (p.Gly1299=) | |
X | g.74740661C>A | CA413664494 | NEXMIF | c.3896G>T (p.Gly1299Val) | dbSNP |
X | g.74740661C= | CA2437590083 | NEXMIF | c.3896G= (p.Gly1299=) | |
X | g.74740661C>G | CA413664495 | NEXMIF | c.3896G>C (p.Gly1299Ala) | |
X | g.74740661C>T | CA413664496 | NEXMIF | c.3896G>A (p.Gly1299Asp) | |
X | g.74740661_74740663del | CA2538773798 | NEXMIF | c.3894_3896del (p.Met1298_Gly1299delinsIle) | |
X | g.74740662C>A | CA413664497 | NEXMIF | c.3895G>T (p.Gly1299Cys) | |
X | g.74740662C= | CA2437590084 | NEXMIF | c.3895G= (p.Gly1299=) | |
X | g.74740662C>G | CA413664498 | NEXMIF | c.3895G>C (p.Gly1299Arg) | |
X | g.74740662C>T | CA413664499 | NEXMIF | c.3895G>A (p.Gly1299Ser) | ClinVar dbSNP gnomAD v4 |
X | g.74740663C>A | CA413664500 | NEXMIF | c.3894G>T (p.Met1298Ile) | |
X | g.74740663C>G | CA413664501 | NEXMIF | c.3894G>C (p.Met1298Ile) | |
X | g.74740663C>T | CA413664502 | NEXMIF | c.3894G>A (p.Met1298Ile) | |
X | g.74740664A>C | CA413664503 | NEXMIF | c.3893T>G (p.Met1298Arg) | |
X | g.74740664A>G | CA413664505 | NEXMIF | c.3893T>C (p.Met1298Thr) | gnomAD v4 |