| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.23573210dup | CA513685735 | IGLL1 | c.*58dup (n.*58dup) c.*329dup (n.*329dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573209C= | CA2397855780 | IGLL1 | c.*57G= (n.*57G=) c.*328G= (n.*328G=) | |
| 22 | g.23573209C>G | CA322555714 | IGLL1 | c.*57G>C (n.*57G>C) c.*328G>C (n.*328G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573209C>T | CA2655672854 | IGLL1 | c.*57G>A (n.*57G>A) c.*328G>A (n.*328G>A) | gnomAD v4 |
| 22 | g.23573211T>C | CA322555717 | IGLL1 | c.*55A>G (n.*55A>G) c.*326A>G (n.*326A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573211T>G | CA2655672855 | IGLL1 | c.*55A>C (n.*55A>C) c.*326A>C (n.*326A>C) | gnomAD v4 |
| 22 | g.23573211T= | CA2397855781 | IGLL1 | c.*55A= (n.*55A=) c.*326A= (n.*326A=) | |
| 22 | g.23573212T>C | CA2655672856 | IGLL1 | c.*54A>G (n.*54A>G) c.*325A>G (n.*325A>G) | gnomAD v4 |
| 22 | g.23573212T= | CA2397855782 | IGLL1 | c.*54A= (n.*54A=) c.*325A= (n.*325A=) | |
| 22 | g.23573213C= | CA2397855783 | IGLL1 | c.*53G= (n.*53G=) c.*324G= (n.*324G=) | |
| 22 | g.23573213C>T | CA751804400 | IGLL1 | c.*53G>A (n.*53G>A) c.*324G>A (n.*324G>A) | dbSNP |
| 22 | g.23573216dup | CA322555719 | IGLL1 | c.*53dup (n.*53dup) c.*324dup (n.*324dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573214C>T | CA2655672857 | IGLL1 | c.*52G>A (n.*52G>A) c.*323G>A (n.*323G>A) | gnomAD v4 |
| 22 | g.23573216C>T | CA2818523351 | IGLL1 | c.*50G>A (n.*50G>A) c.*321G>A (n.*321G>A) | |
| 22 | g.23573217T>C | CA658080749 | IGLL1 | c.*49A>G (n.*49A>G) c.*320A>G (n.*320A>G) | gnomAD v4 |
| 22 | g.23573218G>C | CA2655672858 | IGLL1 | c.*48C>G (n.*48C>G) c.*319C>G (n.*319C>G) | gnomAD v4 |
| 22 | g.23573219G>A | CA638949788 | IGLL1 | c.*47C>T (n.*47C>T) c.*318C>T (n.*318C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.23573219G= | CA2397855784 | IGLL1 | c.*47C= (n.*47C=) c.*318C= (n.*318C=) | |
| 22 | g.23573221A>G | CA2655672859 | IGLL1 | c.*45T>C (n.*45T>C) c.*316T>C (n.*316T>C) | gnomAD v4 |
| 22 | g.23573224C>A | CA2577661757 | IGLL1 | c.*42G>T (n.*42G>T) c.*313G>T (n.*313G>T) | |
| 22 | g.23573224C= | CA2397855785 | IGLL1 | c.*42G= (n.*42G=) c.*313G= (n.*313G=) | |
| 22 | g.23573224C>T | CA2397855786 | IGLL1 | c.*42G>A (n.*42G>A) c.*313G>A (n.*313G>A) | dbSNP |
| 22 | g.23573225T>C | CA2655672860 | IGLL1 | c.*41A>G (n.*41A>G) c.*312A>G (n.*312A>G) | gnomAD v4 |
| 22 | g.23573226G>A | CA2655672861 | IGLL1 | c.*40C>T (n.*40C>T) c.*311C>T (n.*311C>T) | gnomAD v4 |
| 22 | g.23573227C>T | CA2655672862 | IGLL1 | c.*39G>A (n.*39G>A) c.*310G>A (n.*310G>A) | gnomAD v4 |
| 22 | g.23573228A= | CA2397855787 | IGLL1 | c.*38T= (n.*38T=) c.*309T= (n.*309T=) | |
| 22 | g.23573228A>C | CA638949789 | IGLL1 | c.*38T>G (n.*38T>G) c.*309T>G (n.*309T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573229G>A | CA10143179 | IGLL1 | c.*37C>T (n.*37C>T) c.*308C>T (n.*308C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573229G= | CA2397855788 | IGLL1 | c.*37C= (n.*37C=) c.*308C= (n.*308C=) | |
| 22 | g.23573229G>T | CA2655672863 | IGLL1 | c.*37C>A (n.*37C>A) c.*308C>A (n.*308C>A) | gnomAD v4 |
| 22 | g.23573232C= | CA2397855789 | IGLL1 | c.*34G= (n.*34G=) c.*305G= (n.*305G=) | |
| 22 | g.23573232C>G | CA1024476114 | IGLL1 | c.*34G>C (n.*34G>C) c.*305G>C (n.*305G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.23573233C>T | CA2655672864 | IGLL1 | c.*33G>A (n.*33G>A) c.*304G>A (n.*304G>A) | gnomAD v4 |
| 22 | g.23573235G>T | CA2577661758 | IGLL1 | c.*31C>A (n.*31C>A) c.*302C>A (n.*302C>A) | |
| 22 | g.23573236_23573237delinsGC | CA2397855790 | IGLL1 | c.*29_*30delinsGC (n.*29_*30delinsGC) c.*300_*301delinsGC (n.*300_*301delinsGC) | |
| 22 | g.23573237C>A | CA322555724 | IGLL1 | c.*29G>T (n.*29G>T) c.*300G>T (n.*300G>T) | dbSNP gnomAD v4 |
| 22 | g.23573237C= | CA2397855791 | IGLL1 | c.*29G= (n.*29G=) c.*300G= (n.*300G=) | |
| 22 | g.23573237C>T | CA638949790 | IGLL1 | c.*29G>A (n.*29G>A) c.*300G>A (n.*300G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.23573240del | CA638949791 | IGLL1 | c.*29del (n.*29del) c.*300del (n.*300del) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.23573239C= | CA2397855792 | IGLL1 | c.*27G= (n.*27G=) c.*298G= (n.*298G=) | |
| 22 | g.23573239C>T | CA1024476121 | IGLL1 | c.*27G>A (n.*27G>A) c.*298G>A (n.*298G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.23573241T>A | CA2655672865 | IGLL1 | c.*25A>T (n.*25A>T) c.*296A>T (n.*296A>T) | gnomAD v4 |
| 22 | g.23573243del | CA2577661759 | IGLL1 | c.*25del (n.*25del) c.*296del (n.*296del) | gnomAD v4 |
| 22 | g.23573242T>C | CA2655672866 | IGLL1 | c.*24A>G (n.*24A>G) c.*295A>G (n.*295A>G) | gnomAD v4 |
| 22 | g.23573242T>G | CA10143180 | IGLL1 | c.*24A>C (n.*24A>C) c.*295A>C (n.*295A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573242T= | CA2397855793 | IGLL1 | c.*24A= (n.*24A=) c.*295A= (n.*295A=) | |
| 22 | g.23573244G>A | CA2397855795 | IGLL1 | c.*22C>T (n.*22C>T) c.*293C>T (n.*293C>T) | dbSNP gnomAD v4 |
| 22 | g.23573244G= | CA2397855794 | IGLL1 | c.*22C= (n.*22C=) c.*293C= (n.*293C=) | |
| 22 | g.23573244G>T | CA2397855796 | IGLL1 | c.*22C>A (n.*22C>A) c.*293C>A (n.*293C>A) | dbSNP gnomAD v4 |
| 22 | g.23573246del | CA2577661760 | IGLL1 | c.*22del (n.*22del) c.*293del (n.*293del) | |
| 22 | g.23573245G>A | CA10143181 | IGLL1 | c.*21C>T (n.*21C>T) c.*292C>T (n.*292C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573245G>C | CA2655672867 | IGLL1 | c.*21C>G (n.*21C>G) c.*292C>G (n.*292C>G) | gnomAD v4 |
| 22 | g.23573245G= | CA2397855797 | IGLL1 | c.*21C= (n.*21C=) c.*292C= (n.*292C=) | |
| 22 | g.23573245G>T | CA638949792 | IGLL1 | c.*21C>A (n.*21C>A) c.*292C>A (n.*292C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.23573246G>A | CA638949793 | IGLL1 | c.*20C>T (n.*20C>T) c.*291C>T (n.*291C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.23573246G= | CA2397855798 | IGLL1 | c.*20C= (n.*20C=) c.*291C= (n.*291C=) | |
| 22 | g.23573248G>C | CA2655672868 | IGLL1 | c.*18C>G (n.*18C>G) c.*289C>G (n.*289C>G) | gnomAD v4 |
| 22 | g.23573249G>A | CA2655672869 | IGLL1 | c.*17C>T (n.*17C>T) c.*288C>T (n.*288C>T) | gnomAD v4 |
| 22 | g.23573250G>A | CA10143182 | IGLL1 | c.*16C>T (n.*16C>T) c.*287C>T (n.*287C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573250G>C | CA2655672870 | IGLL1 | c.*16C>G (n.*16C>G) c.*287C>G (n.*287C>G) | gnomAD v4 |
| 22 | g.23573250G= | CA2397855799 | IGLL1 | c.*16C= (n.*16C=) c.*287C= (n.*287C=) | |
| 22 | g.23573250G>T | CA2655672871 | IGLL1 | c.*16C>A (n.*16C>A) c.*287C>A (n.*287C>A) | gnomAD v4 |
| 22 | g.23573251G>C | CA10143183 | IGLL1 | c.*15C>G (n.*15C>G) c.*286C>G (n.*286C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573251G= | CA2397855800 | IGLL1 | c.*15C= (n.*15C=) c.*286C= (n.*286C=) | |
| 22 | g.23573252T>A | CA322555732 | IGLL1 | c.*14A>T (n.*14A>T) c.*285A>T (n.*285A>T) | dbSNP |
| 22 | g.23573252T= | CA2397855801 | IGLL1 | c.*14A= (n.*14A=) c.*285A= (n.*285A=) | |
| 22 | g.23573253C>A | CA10143185 | IGLL1 | c.*13G>T (n.*13G>T) c.*284G>T (n.*284G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573253C= | CA2397855802 | IGLL1 | c.*13G= (n.*13G=) c.*284G= (n.*284G=) | |
| 22 | g.23573253C>G | CA10143184 | IGLL1 | c.*13G>C (n.*13G>C) c.*284G>C (n.*284G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573253C>T | CA10143186 | IGLL1 | c.*13G>A (n.*13G>A) c.*284G>A (n.*284G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573254G>A | CA10143187 | IGLL1 | c.*12C>T (n.*12C>T) c.*283C>T (n.*283C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573254G>C | CA2397855804 | IGLL1 | c.*12C>G (n.*12C>G) c.*283C>G (n.*283C>G) | dbSNP |
| 22 | g.23573254G= | CA2397855803 | IGLL1 | c.*12C= (n.*12C=) c.*283C= (n.*283C=) | |
| 22 | g.23573254G>T | CA322555739 | IGLL1 | c.*12C>A (n.*12C>A) c.*283C>A (n.*283C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.23573255G>A | CA10143188 | IGLL1 | c.*11C>T (n.*11C>T) c.*282C>T (n.*282C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573255G= | CA2397855805 | IGLL1 | c.*11C= (n.*11C=) c.*282C= (n.*282C=) | |
| 22 | g.23573255G>T | CA2655672872 | IGLL1 | c.*11C>A (n.*11C>A) c.*282C>A (n.*282C>A) | gnomAD v4 |
| 22 | g.23573256G>A | CA638949794 | IGLL1 | c.*10C>T (n.*10C>T) c.*281C>T (n.*281C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573256G>C | CA10143189 | IGLL1 | c.*10C>G (n.*10C>G) c.*281C>G (n.*281C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573256G= | CA2397855806 | IGLL1 | c.*10C= (n.*10C=) c.*281C= (n.*281C=) | |
| 22 | g.23573259T>C | CA10143191 | IGLL1 | c.*7A>G (n.*7A>G) c.*278A>G (n.*278A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573259T= | CA2397855807 | IGLL1 | c.*7A= (n.*7A=) c.*278A= (n.*278A=) | |
| 22 | g.23573259_23573260delinsTG | CA2397855808 | IGLL1 | c.*6_*7delinsCA (n.*6_*7delinsCA) c.*277_*278delinsCA (n.*277_*278delinsCA) | |
| 22 | g.23573260G>A | CA2397855810 | IGLL1 | c.*6C>T (n.*6C>T) c.*277C>T (n.*277C>T) | dbSNP |
| 22 | g.23573260G= | CA2397855809 | IGLL1 | c.*6C= (n.*6C=) c.*277C= (n.*277C=) | |
| 22 | g.23573260G>T | CA2655672873 | IGLL1 | c.*6C>A (n.*6C>A) c.*277C>A (n.*277C>A) | gnomAD v4 |
| 22 | g.23573262del | CA10143190 | IGLL1 | c.*6del (n.*6del) c.*277del (n.*277del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573261G>A | CA638949795 | IGLL1 | c.*5C>T (n.*5C>T) c.*276C>T (n.*276C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.23573261G= | CA2397855811 | IGLL1 | c.*5C= (n.*5C=) c.*276C= (n.*276C=) | |
| 22 | g.23573262G>A | CA2655672874 | IGLL1 | c.*4C>T (n.*4C>T) c.*275C>T (n.*275C>T) | gnomAD v4 |
| 22 | g.23573264A= | CA2397855812 | IGLL1 | c.*2T= (n.*2T=) c.*273T= (n.*273T=) | |
| 22 | g.23573264A>G | CA10143192 | IGLL1 | c.*2T>C (n.*2T>C) c.*273T>C (n.*273T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573266C>A | CA410898324 | IGLL1 | c.642G>T (p.Ter214Tyr) c.*271G>T (n.*271G>T) c.645G>T (p.Ter215Tyr) | |
| 22 | g.23573266C>G | CA410898325 | IGLL1 | c.642G>C (p.Ter214Tyr) c.*271G>C (n.*271G>C) c.645G>C (p.Ter215Tyr) | gnomAD v4 |
| 22 | g.23573266C>T | CA513685739 | IGLL1 | c.642G>A (p.Ter214=) c.*271G>A (n.*271G>A) c.645G>A (p.Ter215=) | gnomAD v4 |
| 22 | g.23573267T>A | CA410898326 | IGLL1 | c.641A>T (p.Ter214Leu) c.*270A>T (n.*270A>T) c.644A>T (p.Ter215Leu) | |
| 22 | g.23573267T>C | CA410898328 | IGLL1 | c.641A>G (p.Ter214Trp) c.*270A>G (n.*270A>G) c.644A>G (p.Ter215Trp) | gnomAD v4 |
| 22 | g.23573267T>G | CA410898327 | IGLL1 | c.641A>C (p.Ter214Ser) c.*270A>C (n.*270A>C) c.644A>C (p.Ter215Ser) | |
| 22 | g.23573268A>C | CA410898329 | IGLL1 | c.640T>G (p.Ter214Glu) c.*269T>G (n.*269T>G) c.643T>G (p.Ter215Glu) | |
| 22 | g.23573268A>G | CA410898331 | IGLL1 | c.640T>C (p.Ter214Gln) c.*269T>C (n.*269T>C) c.643T>C (p.Ter215Gln) | gnomAD v4 |
| 22 | g.23573268A>T | CA410898330 | IGLL1 | c.640T>A (p.Ter214Lys) c.*269T>A (n.*269T>A) c.643T>A (p.Ter215Lys) | |
| 22 | g.23573269T>A | CA513685740 | IGLL1 | c.639A>T (p.Ser213=) c.*268A>T (n.*268A>T) c.642A>T (p.Ser214=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.23573269T>C | CA513685741 | IGLL1 | c.639A>G (p.Ser213=) c.*268A>G (n.*268A>G) c.642A>G (p.Ser214=) | dbSNP |
| 22 | g.23573269T>G | CA513685742 | IGLL1 | c.639A>C (p.Ser213=) c.*268A>C (n.*268A>C) c.642A>C (p.Ser214=) | |
| 22 | g.23573269T= | CA2397855813 | IGLL1 | c.639A= (p.Ser213=) c.*268A= (n.*268A=) c.642A= (p.Ser214=) | |
| 22 | g.23573270G>A | CA10143193 | IGLL1 | c.638C>T (p.Ser213Leu) c.*267C>T (n.*267C>T) c.641C>T (p.Ser214Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.23573270G>C | CA410898333 | IGLL1 | c.638C>G (p.Ser213Ter) c.*267C>G (n.*267C>G) c.641C>G (p.Ser214Ter) | |
| 22 | g.23573270G= | CA2397855814 | IGLL1 | c.638C= (p.Ser213=) c.*267C= (n.*267C=) c.641C= (p.Ser214=) | |
| 22 | g.23573270G>T | CA410898332 | IGLL1 | c.638C>A (p.Ser213Ter) c.*267C>A (n.*267C>A) c.641C>A (p.Ser214Ter) | |
| 22 | g.23573271A>C | CA410898334 | IGLL1 | c.637T>G (p.Ser213Ala) c.*266T>G (n.*266T>G) c.640T>G (p.Ser214Ala) | |
| 22 | g.23573271A>G | CA410898336 | IGLL1 | c.637T>C (p.Ser213Pro) c.*266T>C (n.*266T>C) c.640T>C (p.Ser214Pro) | |
| 22 | g.23573271A>T | CA410898335 | IGLL1 | c.637T>A (p.Ser213Thr) c.*266T>A (n.*266T>A) c.640T>A (p.Ser214Thr) | |
| 22 | g.23573272A>C | CA410898337 | IGLL1 | c.636T>G (p.Cys212Trp) c.*265T>G (n.*265T>G) c.639T>G (p.Cys213Trp) | |
| 22 | g.23573272A>G | CA513685743 | IGLL1 | c.636T>C (p.Cys212=) c.*265T>C (n.*265T>C) c.639T>C (p.Cys213=) | |
| 22 | g.23573272A>T | CA410898338 | IGLL1 | c.636T>A (p.Cys212Ter) c.*265T>A (n.*265T>A) c.639T>A (p.Cys213Ter) | |
| 22 | g.23573273C>A | CA10143194 | IGLL1 | c.635G>T (p.Cys212Phe) c.*264G>T (n.*264G>T) c.638G>T (p.Cys213Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573273C= | CA2397855815 | IGLL1 | c.635G= (p.Cys212=) c.*264G= (n.*264G=) c.638G= (p.Cys213=) | |
| 22 | g.23573273C>G | CA410898339 | IGLL1 | c.635G>C (p.Cys212Ser) c.*264G>C (n.*264G>C) c.638G>C (p.Cys213Ser) | |
| 22 | g.23573273C>T | CA410898340 | IGLL1 | c.635G>A (p.Cys212Tyr) c.*264G>A (n.*264G>A) c.638G>A (p.Cys213Tyr) | |
| 22 | g.23573274A= | CA2397855816 | IGLL1 | c.634T= (p.Cys212=) c.*263T= (n.*263T=) c.637T= (p.Cys213=) | |
| 22 | g.23573274A>C | CA410898341 | IGLL1 | c.634T>G (p.Cys212Gly) c.*263T>G (n.*263T>G) c.637T>G (p.Cys213Gly) | |
| 22 | g.23573274A>G | CA410898342 | IGLL1 | c.634T>C (p.Cys212Arg) c.*263T>C (n.*263T>C) c.637T>C (p.Cys213Arg) | dbSNP |
| 22 | g.23573274A>T | CA410898343 | IGLL1 | c.634T>A (p.Cys212Ser) c.*263T>A (n.*263T>A) c.637T>A (p.Cys213Ser) | |
| 22 | g.23573275T>A | CA410898344 | IGLL1 | c.633A>T (p.Glu211Asp) c.*262A>T (n.*262A>T) c.636A>T (p.Glu212Asp) | |
| 22 | g.23573275T>C | CA10143195 | IGLL1 | c.633A>G (p.Glu211=) c.*262A>G (n.*262A>G) c.636A>G (p.Glu212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573275T>G | CA410898345 | IGLL1 | c.633A>C (p.Glu211Asp) c.*262A>C (n.*262A>C) c.636A>C (p.Glu212Asp) | |
| 22 | g.23573275T= | CA2397855817 | IGLL1 | c.633A= (p.Glu211=) c.*262A= (n.*262A=) c.636A= (p.Glu212=) | |
| 22 | g.23573276T>A | CA410898348 | IGLL1 | c.632A>T (p.Glu211Val) c.*261A>T (n.*261A>T) c.635A>T (p.Glu212Val) | |
| 22 | g.23573276T>C | CA410898346 | IGLL1 | c.632A>G (p.Glu211Gly) c.*261A>G (n.*261A>G) c.635A>G (p.Glu212Gly) | |
| 22 | g.23573276T>G | CA410898347 | IGLL1 | c.632A>C (p.Glu211Ala) c.*261A>C (n.*261A>C) c.635A>C (p.Glu212Ala) | |
| 22 | g.23573277C>A | CA410898349 | IGLL1 | c.631G>T (p.Glu211Ter) c.*260G>T (n.*260G>T) c.634G>T (p.Glu212Ter) | |
| 22 | g.23573277C= | CA2397855818 | IGLL1 | c.631G= (p.Glu211=) c.*260G= (n.*260G=) c.634G= (p.Glu212=) | |
| 22 | g.23573277C>G | CA10143196 | IGLL1 | c.631G>C (p.Glu211Gln) c.*260G>C (n.*260G>C) c.634G>C (p.Glu212Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573277C>T | CA410898350 | IGLL1 | c.631G>A (p.Glu211Lys) c.*260G>A (n.*260G>A) c.634G>A (p.Glu212Lys) | gnomAD v4 COSMIC |
| 22 | g.23573278T>A | CA513685746 | IGLL1 | c.630A>T (p.Ala210=) c.*259A>T (n.*259A>T) c.633A>T (p.Ala211=) | |
| 22 | g.23573278T>C | CA513685748 | IGLL1 | c.630A>G (p.Ala210=) c.*259A>G (n.*259A>G) c.633A>G (p.Ala211=) | |
| 22 | g.23573278T>G | CA513685747 | IGLL1 | c.630A>C (p.Ala210=) c.*259A>C (n.*259A>C) c.633A>C (p.Ala211=) | |
| 22 | g.23573279del | CA2577661761 | IGLL1 | c.629del (p.Ala210GlufsTer?) c.*258del (n.*258del) c.632del (p.Ala211GlufsTer?) | |
| 22 | g.23573279G>A | CA410898351 | IGLL1 | c.629C>T (p.Ala210Val) c.*258C>T (n.*258C>T) c.632C>T (p.Ala211Val) | |
| 22 | g.23573279G>C | CA410898352 | IGLL1 | c.629C>G (p.Ala210Gly) c.*258C>G (n.*258C>G) c.632C>G (p.Ala211Gly) | |
| 22 | g.23573279G= | CA2397855819 | IGLL1 | c.629C= (p.Ala210=) c.*258C= (n.*258C=) c.632C= (p.Ala211=) | |
| 22 | g.23573279G>T | CA10143197 | IGLL1 | c.629C>A (p.Ala210Glu) c.*258C>A (n.*258C>A) c.632C>A (p.Ala211Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573280C>A | CA410898353 | IGLL1 | c.628G>T (p.Ala210Ser) c.*257G>T (n.*257G>T) c.631G>T (p.Ala211Ser) | |
| 22 | g.23573280C= | CA2397855820 | IGLL1 | c.628G= (p.Ala210=) c.*257G= (n.*257G=) c.631G= (p.Ala211=) | |
| 22 | g.23573280C>G | CA410898354 | IGLL1 | c.628G>C (p.Ala210Pro) c.*257G>C (n.*257G>C) c.631G>C (p.Ala211Pro) | |
| 22 | g.23573280C>T | CA410898355 | IGLL1 | c.628G>A (p.Ala210Thr) c.*257G>A (n.*257G>A) c.631G>A (p.Ala211Thr) | dbSNP gnomAD v4 |
| 22 | g.23573281A= | CA2397855821 | IGLL1 | c.627T= (p.Pro209=) c.*256T= (n.*256T=) c.630T= (p.Pro210=) | |
| 22 | g.23573281A>C | CA513685750 | IGLL1 | c.627T>G (p.Pro209=) c.*256T>G (n.*256T>G) c.630T>G (p.Pro210=) | |
| 22 | g.23573281A>G | CA10143198 | IGLL1 | c.627T>C (p.Pro209=) c.*256T>C (n.*256T>C) c.630T>C (p.Pro210=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.23573281A>T | CA513685749 | IGLL1 | c.627T>A (p.Pro209=) c.*256T>A (n.*256T>A) c.630T>A (p.Pro210=) | |
| 22 | g.23573281_23573282delinsAG | CA2397855822 | IGLL1 | c.626_627delinsCT (p.Pro209=) c.*255_*256delinsCT (n.*255_*256delinsCT) c.629_630delinsCT (p.Pro210=) | |
| 22 | g.23573282G>A | CA410898358 | IGLL1 | c.626C>T (p.Pro209Leu) c.*255C>T (n.*255C>T) c.629C>T (p.Pro210Leu) | |
| 22 | g.23573282G>C | CA410898357 | IGLL1 | c.626C>G (p.Pro209Arg) c.*255C>G (n.*255C>G) c.629C>G (p.Pro210Arg) | |
| 22 | g.23573282G>T | CA410898356 | IGLL1 | c.626C>A (p.Pro209His) c.*255C>A (n.*255C>A) c.629C>A (p.Pro210His) | |
| 22 | g.23573285del | CA1024476147 | IGLL1 | c.626del (p.Pro209LeufsTer?) c.*255del (n.*255del) c.629del (p.Pro210LeufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.23573283G>A | CA410898359 | IGLL1 | c.625C>T (p.Pro209Ser) c.*254C>T (n.*254C>T) c.628C>T (p.Pro210Ser) | gnomAD v4 |
| 22 | g.23573283G>C | CA410898360 | IGLL1 | c.625C>G (p.Pro209Ala) c.*254C>G (n.*254C>G) c.628C>G (p.Pro210Ala) | |
| 22 | g.23573283G>T | CA410898361 | IGLL1 | c.625C>A (p.Pro209Thr) c.*254C>A (n.*254C>A) c.628C>A (p.Pro210Thr) | |
| 22 | g.23573284G>A | CA10143199 | IGLL1 | c.624C>T (p.Ala208=) c.*253C>T (n.*253C>T) c.627C>T (p.Ala209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573284G>C | CA513685751 | IGLL1 | c.624C>G (p.Ala208=) c.*253C>G (n.*253C>G) c.627C>G (p.Ala209=) | gnomAD v4 |
| 22 | g.23573284G= | CA2397855823 | IGLL1 | c.624C= (p.Ala208=) c.*253C= (n.*253C=) c.627C= (p.Ala209=) | |
| 22 | g.23573284G>T | CA513685752 | IGLL1 | c.624C>A (p.Ala208=) c.*253C>A (n.*253C>A) c.627C>A (p.Ala209=) | |
| 22 | g.23573285G>A | CA410898362 | IGLL1 | c.623C>T (p.Ala208Val) c.*252C>T (n.*252C>T) c.626C>T (p.Ala209Val) | dbSNP gnomAD v4 |
| 22 | g.23573285G>C | CA410898363 | IGLL1 | c.623C>G (p.Ala208Gly) c.*252C>G (n.*252C>G) c.626C>G (p.Ala209Gly) | |
| 22 | g.23573285G= | CA2397855825 | IGLL1 | c.623C= (p.Ala208=) c.*252C= (n.*252C=) c.626C= (p.Ala209=) | |
| 22 | g.23573285G>T | CA410898364 | IGLL1 | c.623C>A (p.Ala208Asp) c.*252C>A (n.*252C>A) c.626C>A (p.Ala209Asp) | |
| 22 | g.23573285_23573289delinsGCCAC | CA2397855824 | IGLL1 | c.619_623delinsGTGGC (p.Val207=) c.*248_*252delinsGTGGC (n.*248_*252delinsGTGGC) c.622_626delinsGTGGC (p.Val208=) | |
| 22 | g.23573286C>A | CA10143201 | IGLL1 | c.622G>T (p.Ala208Ser) c.*251G>T (n.*251G>T) c.625G>T (p.Ala209Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573286C= | CA2397855826 | IGLL1 | c.622G= (p.Ala208=) c.*251G= (n.*251G=) c.625G= (p.Ala209=) | |
| 22 | g.23573286C>G | CA410898365 | IGLL1 | c.622G>C (p.Ala208Pro) c.*251G>C (n.*251G>C) c.625G>C (p.Ala209Pro) | |
| 22 | g.23573286C>T | CA410898366 | IGLL1 | c.622G>A (p.Ala208Thr) c.*251G>A (n.*251G>A) c.625G>A (p.Ala209Thr) | |
| 22 | g.23573287_23573290del | CA10143200 | IGLL1 | c.619_622del (p.Val207ProfsTer?) c.*248_*251del (n.*248_*251del) c.622_625del (p.Val208ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573287C>A | CA513685754 | IGLL1 | c.621G>T (p.Val207=) c.*250G>T (n.*250G>T) c.624G>T (p.Val208=) | |
| 22 | g.23573287C>G | CA513685755 | IGLL1 | c.621G>C (p.Val207=) c.*250G>C (n.*250G>C) c.624G>C (p.Val208=) | |
| 22 | g.23573287C>T | CA513685756 | IGLL1 | c.621G>A (p.Val207=) c.*250G>A (n.*250G>A) c.624G>A (p.Val208=) | COSMIC |
| 22 | g.23573288A= | CA2397855827 | IGLL1 | c.620T= (p.Val207=) c.*249T= (n.*249T=) c.623T= (p.Val208=) | |
| 22 | g.23573288A>C | CA410898368 | IGLL1 | c.620T>G (p.Val207Gly) c.*249T>G (n.*249T>G) c.623T>G (p.Val208Gly) | |
| 22 | g.23573288A>G | CA410898367 | IGLL1 | c.620T>C (p.Val207Ala) c.*249T>C (n.*249T>C) c.623T>C (p.Val208Ala) | |
| 22 | g.23573288A>T | CA10143202 | IGLL1 | c.620T>A (p.Val207Glu) c.*249T>A (n.*249T>A) c.623T>A (p.Val208Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573289C>A | CA410898369 | IGLL1 | c.619G>T (p.Val207Leu) c.*248G>T (n.*248G>T) c.622G>T (p.Val208Leu) | |
| 22 | g.23573289C= | CA2397855828 | IGLL1 | c.619G= (p.Val207=) c.*248G= (n.*248G=) c.622G= (p.Val208=) | |
| 22 | g.23573289C>G | CA410898370 | IGLL1 | c.619G>C (p.Val207Leu) c.*248G>C (n.*248G>C) c.622G>C (p.Val208Leu) | |
| 22 | g.23573289C>T | CA10143203 | IGLL1 | c.619G>A (p.Val207Met) c.*248G>A (n.*248G>A) c.622G>A (p.Val208Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573290C>A | CA513685757 | IGLL1 | c.618G>T (p.Thr206=) c.*247G>T (n.*247G>T) c.621G>T (p.Thr207=) | |
| 22 | g.23573290C= | CA2397855829 | IGLL1 | c.618G= (p.Thr206=) c.*247G= (n.*247G=) c.621G= (p.Thr207=) | |
| 22 | g.23573290C>G | CA322555767 | IGLL1 | c.618G>C (p.Thr206=) c.*247G>C (n.*247G>C) c.621G>C (p.Thr207=) | dbSNP |
| 22 | g.23573290C>T | CA10143204 | IGLL1 | c.618G>A (p.Thr206=) c.*247G>A (n.*247G>A) c.621G>A (p.Thr207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573291G>A | CA10143205 | IGLL1 | c.617C>T (p.Thr206Met) c.*246C>T (n.*246C>T) c.620C>T (p.Thr207Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573291G>C | CA410898371 | IGLL1 | c.617C>G (p.Thr206Arg) c.*246C>G (n.*246C>G) c.620C>G (p.Thr207Arg) | |
| 22 | g.23573291G= | CA2397855830 | IGLL1 | c.617C= (p.Thr206=) c.*246C= (n.*246C=) c.620C= (p.Thr207=) | |
| 22 | g.23573291G>T | CA410898372 | IGLL1 | c.617C>A (p.Thr206Lys) c.*246C>A (n.*246C>A) c.620C>A (p.Thr207Lys) | |
| 22 | g.23573292T>A | CA10143206 | IGLL1 | c.616A>T (p.Thr206Ser) c.*245A>T (n.*245A>T) c.619A>T (p.Thr207Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573292T>C | CA410898373 | IGLL1 | c.616A>G (p.Thr206Ala) c.*245A>G (n.*245A>G) c.619A>G (p.Thr207Ala) | |
| 22 | g.23573292T>G | CA410898374 | IGLL1 | c.616A>C (p.Thr206Pro) c.*245A>C (n.*245A>C) c.619A>C (p.Thr207Pro) | |
| 22 | g.23573292T= | CA2397855831 | IGLL1 | c.616A= (p.Thr206=) c.*245A= (n.*245A=) c.619A= (p.Thr207=) | |
| 22 | g.23573293C>A | CA410898375 | IGLL1 | c.615G>T (p.Lys205Asn) c.*244G>T (n.*244G>T) c.618G>T (p.Lys206Asn) | |
| 22 | g.23573293C>G | CA410898376 | IGLL1 | c.615G>C (p.Lys205Asn) c.*244G>C (n.*244G>C) c.618G>C (p.Lys206Asn) | |
| 22 | g.23573293C>T | CA513685759 | IGLL1 | c.615G>A (p.Lys205=) c.*244G>A (n.*244G>A) c.618G>A (p.Lys206=) | |
| 22 | g.23573294T>A | CA410898378 | IGLL1 | c.614A>T (p.Lys205Met) c.*243A>T (n.*243A>T) c.617A>T (p.Lys206Met) | ClinVar dbSNP gnomAD v4 |
| 22 | g.23573294T>C | CA410898379 | IGLL1 | c.614A>G (p.Lys205Arg) c.*243A>G (n.*243A>G) c.617A>G (p.Lys206Arg) | |
| 22 | g.23573294T>G | CA410898377 | IGLL1 | c.614A>C (p.Lys205Thr) c.*243A>C (n.*243A>C) c.617A>C (p.Lys206Thr) | |
| 22 | g.23573294T= | CA2397855832 | IGLL1 | c.614A= (p.Lys205=) c.*243A= (n.*243A=) c.617A= (p.Lys206=) | |
| 22 | g.23573295T>A | CA410898380 | IGLL1 | c.613A>T (p.Lys205Ter) c.*242A>T (n.*242A>T) c.616A>T (p.Lys206Ter) | |
| 22 | g.23573295T>C | CA410898381 | IGLL1 | c.613A>G (p.Lys205Glu) c.*242A>G (n.*242A>G) c.616A>G (p.Lys206Glu) | |
| 22 | g.23573295T>G | CA410898382 | IGLL1 | c.613A>C (p.Lys205Gln) c.*242A>C (n.*242A>C) c.616A>C (p.Lys206Gln) | |
| 22 | g.23573296C>A | CA410898383 | IGLL1 | c.612G>T (p.Glu204Asp) c.*241G>T (n.*241G>T) c.615G>T (p.Glu205Asp) | |
| 22 | g.23573296C>G | CA410898384 | IGLL1 | c.612G>C (p.Glu204Asp) c.*241G>C (n.*241G>C) c.615G>C (p.Glu205Asp) | |
| 22 | g.23573296C>T | CA513685761 | IGLL1 | c.612G>A (p.Glu204=) c.*241G>A (n.*241G>A) c.615G>A (p.Glu205=) | |
| 22 | g.23573297_23573299del | CA2655672876 | IGLL1 | c.610_612del (p.Glu204del) c.*239_*241del (n.*239_*241del) c.613_615del (p.Glu205del) | gnomAD v4 |
| 22 | g.23573297T>A | CA410898388 | IGLL1 | c.611A>T (p.Glu204Val) c.*240A>T (n.*240A>T) c.614A>T (p.Glu205Val) | |
| 22 | g.23573297T>C | CA410898385 | IGLL1 | c.611A>G (p.Glu204Gly) c.*240A>G (n.*240A>G) c.614A>G (p.Glu205Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.23573297T>G | CA410898386 | IGLL1 | c.611A>C (p.Glu204Ala) c.*240A>C (n.*240A>C) c.614A>C (p.Glu205Ala) | |
| 22 | g.23573297T= | CA2397855833 | IGLL1 | c.611A= (p.Glu204=) c.*240A= (n.*240A=) c.614A= (p.Glu205=) | |
| 22 | g.23573298C>A | CA410898389 | IGLL1 | c.610G>T (p.Glu204Ter) c.*239G>T (n.*239G>T) c.613G>T (p.Glu205Ter) | |
| 22 | g.23573298C= | CA2397855834 | IGLL1 | c.610G= (p.Glu204=) c.*239G= (n.*239G=) c.613G= (p.Glu205=) | |
| 22 | g.23573298C>G | CA410898390 | IGLL1 | c.610G>C (p.Glu204Gln) c.*239G>C (n.*239G>C) c.613G>C (p.Glu205Gln) | |
| 22 | g.23573298C>T | CA410898391 | IGLL1 | c.610G>A (p.Glu204Lys) c.*239G>A (n.*239G>A) c.613G>A (p.Glu205Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.23573298_23573299insTG | CA10143207 | IGLL1 | c.609_610insCA (p.Glu204GlnfsTer?) c.*238_*239insCA (n.*238_*239insCA) c.612_613insCA (p.Glu205GlnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573299C>A | CA513685763 | IGLL1 | c.609G>T (p.Val203=) c.*238G>T (n.*238G>T) c.612G>T (p.Val204=) | |
| 22 | g.23573299C= | CA2397855835 | IGLL1 | c.609G= (p.Val203=) c.*238G= (n.*238G=) c.612G= (p.Val204=) | |
| 22 | g.23573299C>G | CA513685762 | IGLL1 | c.609G>C (p.Val203=) c.*238G>C (n.*238G>C) c.612G>C (p.Val204=) | |
| 22 | g.23573299C>T | CA10143208 | IGLL1 | c.609G>A (p.Val203=) c.*238G>A (n.*238G>A) c.612G>A (p.Val204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573299_23573302delinsCACG | CA2397855836 | IGLL1 | c.606_609delinsCGTG (p.Thr202=) c.*235_*238delinsCGTG (n.*235_*238delinsCGTG) c.609_612delinsCGTG (p.Thr203=) | |
| 22 | g.23573299_23573302delinsTGCA | CA891843919 | IGLL1 | c.606_609delinsTGCA (p.Val203Ala) c.*235_*238delinsTGCA (n.*235_*238delinsTGCA) c.609_612delinsTGCA (p.Val204Ala) | ClinVar dbSNP |
| 22 | g.23573300A= | CA2397855837 | IGLL1 | c.608T= (p.Val203=) c.*237T= (n.*237T=) c.611T= (p.Val204=) | |
| 22 | g.23573300A>C | CA410898393 | IGLL1 | c.608T>G (p.Val203Gly) c.*237T>G (n.*237T>G) c.611T>G (p.Val204Gly) | |
| 22 | g.23573300A>G | CA322555777 | IGLL1 | c.608T>C (p.Val203Ala) c.*237T>C (n.*237T>C) c.611T>C (p.Val204Ala) | ClinVar dbSNP gnomAD v4 |
| 22 | g.23573300A>T | CA410898392 | IGLL1 | c.608T>A (p.Val203Glu) c.*237T>A (n.*237T>A) c.611T>A (p.Val204Glu) | |
| 22 | g.23573300_23573302delinsACG | CA2397855838 | IGLL1 | c.606_608delinsCGT (p.Thr202=) c.*235_*237delinsCGT (n.*235_*237delinsCGT) c.609_611delinsCGT (p.Thr203=) | |
| 22 | g.23573301C>A | CA410898394 | IGLL1 | c.607G>T (p.Val203Leu) c.*236G>T (n.*236G>T) c.610G>T (p.Val204Leu) | gnomAD v4 |
| 22 | g.23573301C= | CA2397855839 | IGLL1 | c.607G= (p.Val203=) c.*236G= (n.*236G=) c.610G= (p.Val204=) | |
| 22 | g.23573301C>G | CA410898395 | IGLL1 | c.607G>C (p.Val203Leu) c.*236G>C (n.*236G>C) c.610G>C (p.Val204Leu) | |
| 22 | g.23573301C>T | CA10143210 | IGLL1 | c.607G>A (p.Val203Met) c.*236G>A (n.*236G>A) c.610G>A (p.Val204Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573301_23573302del | CA10143209 | IGLL1 | c.606_607del (p.Val203GlyfsTer?) c.*235_*236del (n.*235_*236del) c.609_610del (p.Val204GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573302G>A | CA10143211 | IGLL1 | c.606C>T (p.Thr202=) c.*235C>T (n.*235C>T) c.609C>T (p.Thr203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573302G>C | CA322555785 | IGLL1 | c.606C>G (p.Thr202=) c.*235C>G (n.*235C>G) c.609C>G (p.Thr203=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.23573302G= | CA2397855840 | IGLL1 | c.606C= (p.Thr202=) c.*235C= (n.*235C=) c.609C= (p.Thr203=) | |
| 22 | g.23573302G>T | CA513685765 | IGLL1 | c.606C>A (p.Thr202=) c.*235C>A (n.*235C>A) c.609C>A (p.Thr203=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.23573303G>A | CA410898396 | IGLL1 | c.605C>T (p.Thr202Ile) c.*234C>T (n.*234C>T) c.608C>T (p.Thr203Ile) | dbSNP |
| 22 | g.23573303G>C | CA10143212 | IGLL1 | c.605C>G (p.Thr202Ser) c.*234C>G (n.*234C>G) c.608C>G (p.Thr203Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573303G= | CA2397855841 | IGLL1 | c.605C= (p.Thr202=) c.*234C= (n.*234C=) c.608C= (p.Thr203=) | |
| 22 | g.23573303G>T | CA410898397 | IGLL1 | c.605C>A (p.Thr202Asn) c.*234C>A (n.*234C>A) c.608C>A (p.Thr203Asn) | gnomAD v4 |
| 22 | g.23573304T>A | CA410898398 | IGLL1 | c.604A>T (p.Thr202Ser) c.*233A>T (n.*233A>T) c.607A>T (p.Thr203Ser) | |
| 22 | g.23573304T>C | CA410898399 | IGLL1 | c.604A>G (p.Thr202Ala) c.*233A>G (n.*233A>G) c.607A>G (p.Thr203Ala) | gnomAD v4 |
| 22 | g.23573304T>G | CA410898400 | IGLL1 | c.604A>C (p.Thr202Pro) c.*233A>C (n.*233A>C) c.607A>C (p.Thr203Pro) | gnomAD v4 COSMIC |
| 22 | g.23573305G>A | CA513685767 | IGLL1 | c.603C>T (p.Ser201=) c.*232C>T (n.*232C>T) c.606C>T (p.Ser202=) | |
| 22 | g.23573305G>C | CA410898401 | IGLL1 | c.603C>G (p.Ser201Arg) c.*232C>G (n.*232C>G) c.606C>G (p.Ser202Arg) | |
| 22 | g.23573305G>T | CA410898402 | IGLL1 | c.603C>A (p.Ser201Arg) c.*232C>A (n.*232C>A) c.606C>A (p.Ser202Arg) | |
| 22 | g.23573306C>A | CA410898403 | IGLL1 | c.602G>T (p.Ser201Ile) c.*231G>T (n.*231G>T) c.605G>T (p.Ser202Ile) | |
| 22 | g.23573306C>G | CA410898405 | IGLL1 | c.602G>C (p.Ser201Thr) c.*231G>C (n.*231G>C) c.605G>C (p.Ser202Thr) | |
| 22 | g.23573306C>T | CA410898404 | IGLL1 | c.602G>A (p.Ser201Asn) c.*231G>A (n.*231G>A) c.605G>A (p.Ser202Asn) | |
| 22 | g.23573307T>A | CA410898406 | IGLL1 | c.601A>T (p.Ser201Cys) c.*230A>T (n.*230A>T) c.604A>T (p.Ser202Cys) | |
| 22 | g.23573307T>C | CA410898407 | IGLL1 | c.601A>G (p.Ser201Gly) c.*230A>G (n.*230A>G) c.604A>G (p.Ser202Gly) | |
| 22 | g.23573307T>G | CA410898408 | IGLL1 | c.601A>C (p.Ser201Arg) c.*230A>C (n.*230A>C) c.604A>C (p.Ser202Arg) | |
| 22 | g.23573308C>A | CA513685736 | IGLL1 | c.600G>T (p.Gly200=) c.*229G>T (n.*229G>T) c.603G>T (p.Gly201=) | dbSNP |
| 22 | g.23573308C= | CA2397855842 | IGLL1 | c.600G= (p.Gly200=) c.*229G= (n.*229G=) c.603G= (p.Gly201=) | |
| 22 | g.23573308C>G | CA513685737 | IGLL1 | c.600G>C (p.Gly200=) c.*229G>C (n.*229G>C) c.603G>C (p.Gly201=) | |
| 22 | g.23573308C>T | CA10143213 | IGLL1 | c.600G>A (p.Gly200=) c.*229G>A (n.*229G>A) c.603G>A (p.Gly201=) | dbSNP ExAC gnomAD v2 |