Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.105529728_105529745del | CA2626946391 | TMEM121 | c.894_911del (p.Pro299_Pro304del) | gnomAD v4 |
14 | g.105529730_105529735del | CA2626946416 | TMEM121 | c.896_901del (p.Pro299_Leu300del) | gnomAD v4 |
14 | g.105529730_105529733delinsCGCT | CA2161352890 | TMEM121 | c.896_899delinsCGCT (p.Pro299=) | |
14 | g.105529733_105529735del | CA7391510 | TMEM121 | c.899_901del (p.Leu300del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.105529733T>A | CA391203571 | TMEM121 | c.899T>A (p.Leu300Gln) | |
14 | g.105529733T>C | CA7391511 | TMEM121 | c.899T>C (p.Leu300Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.105529733T>G | CA391203575 | TMEM121 | c.899T>G (p.Leu300Arg) | |
14 | g.105529733T= | CA2161352893 | TMEM121 | c.899T= (p.Leu300=) | |
14 | g.105529734G>A | CA488509506 | TMEM121 | c.900G>A (p.Leu300=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.105529734G>C | CA488509507 | TMEM121 | c.900G>C (p.Leu300=) | |
14 | g.105529734G= | CA2161352894 | TMEM121 | c.900G= (p.Leu300=) | |
14 | g.105529734G>T | CA488509508 | TMEM121 | c.900G>T (p.Leu300=) | gnomAD v4 |
14 | g.105529735C>A | CA391203577 | TMEM121 | c.901C>A (p.His301Asn) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.105529735C= | CA2161352895 | TMEM121 | c.901C= (p.His301=) | |
14 | g.105529735C>G | CA391203579 | TMEM121 | c.901C>G (p.His301Asp) | |
14 | g.105529735C>T | CA391203580 | TMEM121 | c.901C>T (p.His301Tyr) | gnomAD v4 |
14 | g.105529736A>C | CA391203587 | TMEM121 | c.902A>C (p.His301Pro) | |
14 | g.105529736A>G | CA391203583 | TMEM121 | c.902A>G (p.His301Arg) | gnomAD v4 |
14 | g.105529736A>T | CA391203585 | TMEM121 | c.902A>T (p.His301Leu) | |
14 | g.105529737C>A | CA391203590 | TMEM121 | c.903C>A (p.His301Gln) | gnomAD v4 |
14 | g.105529737C= | CA2161352896 | TMEM121 | c.903C= (p.His301=) | |
14 | g.105529737C>G | CA391203591 | TMEM121 | c.903C>G (p.His301Gln) | |
14 | g.105529737C>T | CA488509509 | TMEM121 | c.903C>T (p.His301=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.105529738G>A | CA391203595 | TMEM121 | c.904G>A (p.Gly302Ser) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.105529738G>C | CA391203597 | TMEM121 | c.904G>C (p.Gly302Arg) | gnomAD v4 |
14 | g.105529738G= | CA2161352897 | TMEM121 | c.904G= (p.Gly302=) | |
14 | g.105529738G>T | CA391203599 | TMEM121 | c.904G>T (p.Gly302Cys) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.105529739G>A | CA391203603 | TMEM121 | c.905G>A (p.Gly302Asp) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.105529739G>C | CA391203605 | TMEM121 | c.905G>C (p.Gly302Ala) | gnomAD v4 |
14 | g.105529739G= | CA2161352898 | TMEM121 | c.905G= (p.Gly302=) | |
14 | g.105529739G>T | CA391203606 | TMEM121 | c.905G>T (p.Gly302Val) | |
14 | g.105529740C>A | CA488509510 | TMEM121 | c.906C>A (p.Gly302=) | gnomAD v4 |
14 | g.105529740C= | CA2161352899 | TMEM121 | c.906C= (p.Gly302=) | |
14 | g.105529740C>G | CA488509511 | TMEM121 | c.906C>G (p.Gly302=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.105529740C>T | CA266602559 | TMEM121 | c.906C>T (p.Gly302=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.105529741C>A | CA391203609 | TMEM121 | c.907C>A (p.Pro303Thr) | gnomAD v4 |
14 | g.105529741C= | CA2161352900 | TMEM121 | c.907C= (p.Pro303=) | |
14 | g.105529741C>G | CA391203610 | TMEM121 | c.907C>G (p.Pro303Ala) | |
14 | g.105529741C>T | CA391203613 | TMEM121 | c.907C>T (p.Pro303Ser) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.105529742C>A | CA391203617 | TMEM121 | c.908C>A (p.Pro303Gln) | gnomAD v4 |
14 | g.105529742C= | CA2161352901 | TMEM121 | c.908C= (p.Pro303=) | |
14 | g.105529742C>G | CA391203619 | TMEM121 | c.908C>G (p.Pro303Arg) | |
14 | g.105529742C>T | CA391203615 | TMEM121 | c.908C>T (p.Pro303Leu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.105529743G>A | CA488509514 | TMEM121 | c.909G>A (p.Pro303=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.105529743G>C | CA488509513 | TMEM121 | c.909G>C (p.Pro303=) | |
14 | g.105529743G= | CA2161352902 | TMEM121 | c.909G= (p.Pro303=) | |
14 | g.105529743G>T | CA488509512 | TMEM121 | c.909G>T (p.Pro303=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.105529744C>A | CA391203627 | TMEM121 | c.910C>A (p.Pro304Thr) | gnomAD v4 |
14 | g.105529744C>G | CA391203622 | TMEM121 | c.910C>G (p.Pro304Ala) | |
14 | g.105529744C>T | CA391203625 | TMEM121 | c.910C>T (p.Pro304Ser) | gnomAD v4 |