Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.96253888_96253889del | CA1272522042 | TMEM127 | c.639_640del (p.Glu213AspfsTer12) c.387_388del (p.Glu129AspfsTer12) c.-280_-279del (n.-280_-279del) | dbSNP |
2 | g.96253887_96253900dup | CA269763 | TMEM127 | c.627_640dup (p.Met214SerfsTer?) c.375_388dup (p.Met130SerfsTer?) c.-292_-279dup (n.-292_-279dup) | ClinVar dbSNP |
2 | g.96253887T>A | CA347651731 | TMEM127 | c.638A>T (p.Glu213Val) c.386A>T (p.Glu129Val) c.-281A>T (n.-281A>T) | ClinVar |
2 | g.96253887T>C | CA347651734 | TMEM127 | c.638A>G (p.Glu213Gly) c.386A>G (p.Glu129Gly) c.-281A>G (n.-281A>G) | dbSNP gnomAD v4 |
2 | g.96253887T>G | CA347651729 | TMEM127 | c.638A>C (p.Glu213Ala) c.386A>C (p.Glu129Ala) c.-281A>C (n.-281A>C) | |
2 | g.96253887T= | CA1272522045 | TMEM127 | c.638A= (p.Glu213=) c.386A= (p.Glu129=) c.-281A= (n.-281A=) | |
2 | g.96253888C>A | CA347651735 | TMEM127 | c.637G>T (p.Glu213Ter) c.385G>T (p.Glu129Ter) c.-282G>T (n.-282G>T) | |
2 | g.96253888C>G | CA347651736 | TMEM127 | c.637G>C (p.Glu213Gln) c.385G>C (p.Glu129Gln) c.-282G>C (n.-282G>C) | dbSNP COSMIC |
2 | g.96253888C>T | CA347651737 | TMEM127 | c.637G>A (p.Glu213Lys) c.385G>A (p.Glu129Lys) c.-282G>A (n.-282G>A) | ClinVar dbSNP |
2 | g.96253889T>A | CA427807779 | TMEM127 | c.636A>T (p.Ser212=) c.384A>T (p.Ser128=) c.-283A>T (n.-283A>T) | |
2 | g.96253889T>C | CA427807780 | TMEM127 | c.636A>G (p.Ser212=) c.384A>G (p.Ser128=) c.-283A>G (n.-283A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.96253889T>G | CA427807781 | TMEM127 | c.636A>C (p.Ser212=) c.384A>C (p.Ser128=) c.-283A>C (n.-283A>C) | |
2 | g.96253889T= | CA1272522046 | TMEM127 | c.636A= (p.Ser212=) c.384A= (p.Ser128=) c.-283A= (n.-283A=) | |
2 | g.96253890G>A | CA347651738 | TMEM127 | c.635C>T (p.Ser212Leu) c.383C>T (p.Ser128Leu) c.-284C>T (n.-284C>T) | dbSNP |
2 | g.96253890G>C | CA347651739 | TMEM127 | c.635C>G (p.Ser212Ter) c.383C>G (p.Ser128Ter) c.-284C>G (n.-284C>G) | dbSNP |
2 | g.96253890G>T | CA347651741 | TMEM127 | c.635C>A (p.Ser212Ter) c.383C>A (p.Ser128Ter) c.-284C>A (n.-284C>A) | dbSNP |
2 | g.96253891A= | CA1272522047 | TMEM127 | c.634T= (p.Ser212=) c.382T= (p.Ser128=) c.-285T= (n.-285T=) | |
2 | g.96253891A>C | CA347651743 | TMEM127 | c.634T>G (p.Ser212Ala) c.382T>G (p.Ser128Ala) c.-285T>G (n.-285T>G) | |
2 | g.96253891A>G | CA347651747 | TMEM127 | c.634T>C (p.Ser212Pro) c.382T>C (p.Ser128Pro) c.-285T>C (n.-285T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96253891A>T | CA1777266 | TMEM127 | c.634T>A (p.Ser212Thr) c.382T>A (p.Ser128Thr) c.-285T>A (n.-285T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253892G>A | CA1777267 | TMEM127 | c.633C>T (p.Leu211=) c.381C>T (p.Leu127=) c.-286C>T (n.-286C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253892G>C | CA427807786 | TMEM127 | c.633C>G (p.Leu211=) c.381C>G (p.Leu127=) c.-286C>G (n.-286C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253892G= | CA1272522048 | TMEM127 | c.633C= (p.Leu211=) c.381C= (p.Leu127=) c.-286C= (n.-286C=) | |
2 | g.96253892G>T | CA427807787 | TMEM127 | c.633C>A (p.Leu211=) c.381C>A (p.Leu127=) c.-286C>A (n.-286C>A) | |
2 | g.96253893A>C | CA347651759 | TMEM127 | c.632T>G (p.Leu211Arg) c.380T>G (p.Leu127Arg) c.-287T>G (n.-287T>G) | |
2 | g.96253893A>G | CA347651775 | TMEM127 | c.632T>C (p.Leu211Pro) c.380T>C (p.Leu127Pro) c.-287T>C (n.-287T>C) | dbSNP |
2 | g.96253893A>T | CA347651779 | TMEM127 | c.632T>A (p.Leu211His) c.380T>A (p.Leu127His) c.-287T>A (n.-287T>A) | dbSNP |
2 | g.96253894G>A | CA347651823 | TMEM127 | c.631C>T (p.Leu211Phe) c.379C>T (p.Leu127Phe) c.-288C>T (n.-288C>T) | dbSNP |
2 | g.96253894G>C | CA347651813 | TMEM127 | c.631C>G (p.Leu211Val) c.379C>G (p.Leu127Val) c.-288C>G (n.-288C>G) | dbSNP |
2 | g.96253894G>T | CA347651793 | TMEM127 | c.631C>A (p.Leu211Ile) c.379C>A (p.Leu127Ile) c.-288C>A (n.-288C>A) | |
2 | g.96253895C>A | CA427807791 | TMEM127 | c.630G>T (p.Leu210=) c.378G>T (p.Leu126=) c.-289G>T (n.-289G>T) | ClinVar |
2 | g.96253895C= | CA1272522049 | TMEM127 | c.630G= (p.Leu210=) c.378G= (p.Leu126=) c.-289G= (n.-289G=) | |
2 | g.96253895C>G | CA427807792 | TMEM127 | c.630G>C (p.Leu210=) c.378G>C (p.Leu126=) c.-289G>C (n.-289G>C) | ClinVar dbSNP |
2 | g.96253895C>T | CA427807793 | TMEM127 | c.630G>A (p.Leu210=) c.378G>A (p.Leu126=) c.-289G>A (n.-289G>A) | ClinVar dbSNP |
2 | g.96253896A>C | CA347651825 | TMEM127 | c.629T>G (p.Leu210Arg) c.377T>G (p.Leu126Arg) c.-290T>G (n.-290T>G) | |
2 | g.96253896A>G | CA347651827 | TMEM127 | c.629T>C (p.Leu210Pro) c.377T>C (p.Leu126Pro) c.-290T>C (n.-290T>C) | dbSNP |
2 | g.96253896A>T | CA347651828 | TMEM127 | c.629T>A (p.Leu210Gln) c.377T>A (p.Leu126Gln) c.-290T>A (n.-290T>A) | dbSNP |
2 | g.96253897G>A | CA427807797 | TMEM127 | c.628C>T (p.Leu210=) c.376C>T (p.Leu126=) c.-291C>T (n.-291C>T) | dbSNP |
2 | g.96253897G>C | CA347651830 | TMEM127 | c.628C>G (p.Leu210Val) c.376C>G (p.Leu126Val) c.-291C>G (n.-291C>G) | dbSNP |
2 | g.96253897G>T | CA347651833 | TMEM127 | c.628C>A (p.Leu210Met) c.376C>A (p.Leu126Met) c.-291C>A (n.-291C>A) | |
2 | g.96253898C>A | CA347651844 | TMEM127 | c.627G>T (p.Glu209Asp) c.375G>T (p.Glu125Asp) c.-292G>T (n.-292G>T) | |
2 | g.96253898C>G | CA347651848 | TMEM127 | c.627G>C (p.Glu209Asp) c.375G>C (p.Glu125Asp) c.-292G>C (n.-292G>C) | dbSNP |
2 | g.96253898C>T | CA427807798 | TMEM127 | c.627G>A (p.Glu209=) c.375G>A (p.Glu125=) c.-292G>A (n.-292G>A) | ClinVar dbSNP |
2 | g.96253899T>A | CA347651853 | TMEM127 | c.626A>T (p.Glu209Val) c.374A>T (p.Glu125Val) c.-293A>T (n.-293A>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96253899T>C | CA347651854 | TMEM127 | c.626A>G (p.Glu209Gly) c.374A>G (p.Glu125Gly) c.-293A>G (n.-293A>G) | dbSNP |
2 | g.96253899T>G | CA347651855 | TMEM127 | c.626A>C (p.Glu209Ala) c.374A>C (p.Glu125Ala) c.-293A>C (n.-293A>C) | |
2 | g.96253899T= | CA1272522050 | TMEM127 | c.626A= (p.Glu209=) c.374A= (p.Glu125=) c.-293A= (n.-293A=) | |
2 | g.96253900C>A | CA347651856 | TMEM127 | c.625G>T (p.Glu209Ter) c.373G>T (p.Glu125Ter) c.-294G>T (n.-294G>T) | |
2 | g.96253900C>G | CA347651857 | TMEM127 | c.625G>C (p.Glu209Gln) c.373G>C (p.Glu125Gln) c.-294G>C (n.-294G>C) | dbSNP |
2 | g.96253900C>T | CA347651858 | TMEM127 | c.625G>A (p.Glu209Lys) c.373G>A (p.Glu125Lys) c.-294G>A (n.-294G>A) | dbSNP gnomAD v4 |