Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
22 | g.23573309C>A | CA410898409 | IGLL1 | c.599G>T (p.Gly200Val) c.*228G>T (n.*228G>T) c.602G>T (p.Gly201Val) | COSMIC |
22 | g.23573309C>G | CA410898410 | IGLL1 | c.599G>C (p.Gly200Ala) c.*228G>C (n.*228G>C) c.602G>C (p.Gly201Ala) | |
22 | g.23573309C>T | CA410898411 | IGLL1 | c.599G>A (p.Gly200Glu) c.*228G>A (n.*228G>A) c.602G>A (p.Gly201Glu) | gnomAD v4 |
22 | g.23573310C>A | CA410898412 | IGLL1 | c.598G>T (p.Gly200Trp) c.*227G>T (n.*227G>T) c.601G>T (p.Gly201Trp) | |
22 | g.23573310C= | CA2397855843 | IGLL1 | c.598G= (p.Gly200=) c.*227G= (n.*227G=) c.601G= (p.Gly201=) | |
22 | g.23573310C>G | CA410898413 | IGLL1 | c.598G>C (p.Gly200Arg) c.*227G>C (n.*227G>C) c.601G>C (p.Gly201Arg) | |
22 | g.23573310C>T | CA10143214 | IGLL1 | c.598G>A (p.Gly200Arg) c.*227G>A (n.*227G>A) c.601G>A (p.Gly201Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573311T>A | CA410898414 | IGLL1 | c.597A>T (p.Glu199Asp) c.*226A>T (n.*226A>T) c.600A>T (p.Glu200Asp) | dbSNP gnomAD v4 |
22 | g.23573311T>C | CA513685738 | IGLL1 | c.597A>G (p.Glu199=) c.*226A>G (n.*226A>G) c.600A>G (p.Glu200=) | |
22 | g.23573311T>G | CA410898415 | IGLL1 | c.597A>C (p.Glu199Asp) c.*226A>C (n.*226A>C) c.600A>C (p.Glu200Asp) | |
22 | g.23573312T>A | CA410898418 | IGLL1 | c.596A>T (p.Glu199Val) c.*225A>T (n.*225A>T) c.599A>T (p.Glu200Val) | |
22 | g.23573312T>C | CA410898417 | IGLL1 | c.596A>G (p.Glu199Gly) c.*225A>G (n.*225A>G) c.599A>G (p.Glu200Gly) | |
22 | g.23573312T>G | CA410898416 | IGLL1 | c.596A>C (p.Glu199Ala) c.*225A>C (n.*225A>C) c.599A>C (p.Glu200Ala) | |
22 | g.23573313C>A | CA410898419 | IGLL1 | c.595G>T (p.Glu199Ter) c.*224G>T (n.*224G>T) c.598G>T (p.Glu200Ter) | |
22 | g.23573313C= | CA2397855844 | IGLL1 | c.595G= (p.Glu199=) c.*224G= (n.*224G=) c.598G= (p.Glu200=) | |
22 | g.23573313C>G | CA410898420 | IGLL1 | c.595G>C (p.Glu199Gln) c.*224G>C (n.*224G>C) c.598G>C (p.Glu200Gln) | |
22 | g.23573313C>T | CA410898421 | IGLL1 | c.595G>A (p.Glu199Lys) c.*224G>A (n.*224G>A) c.598G>A (p.Glu200Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.23573314G>A | CA10143215 | IGLL1 | c.594C>T (p.His198=) c.*223C>T (n.*223C>T) c.597C>T (p.His199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573314G>C | CA322555794 | IGLL1 | c.594C>G (p.His198Gln) c.*223C>G (n.*223C>G) c.597C>G (p.His199Gln) | dbSNP |
22 | g.23573314G= | CA2397855845 | IGLL1 | c.594C= (p.His198=) c.*223C= (n.*223C=) c.597C= (p.His199=) | |
22 | g.23573314G>T | CA10143216 | IGLL1 | c.594C>A (p.His198Gln) c.*223C>A (n.*223C>A) c.597C>A (p.His199Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573315T>A | CA410898422 | IGLL1 | c.593A>T (p.His198Leu) c.*222A>T (n.*222A>T) c.596A>T (p.His199Leu) | |
22 | g.23573315T>C | CA410898423 | IGLL1 | c.593A>G (p.His198Arg) c.*222A>G (n.*222A>G) c.596A>G (p.His199Arg) | |
22 | g.23573315T>G | CA410898424 | IGLL1 | c.593A>C (p.His198Pro) c.*222A>C (n.*222A>C) c.596A>C (p.His199Pro) | |
22 | g.23573316G>A | CA410898425 | IGLL1 | c.592C>T (p.His198Tyr) c.*221C>T (n.*221C>T) c.595C>T (p.His199Tyr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.23573316G>C | CA410898426 | IGLL1 | c.592C>G (p.His198Asp) c.*221C>G (n.*221C>G) c.595C>G (p.His199Asp) | |
22 | g.23573316G= | CA2397855846 | IGLL1 | c.592C= (p.His198=) c.*221C= (n.*221C=) c.595C= (p.His199=) | |
22 | g.23573316G>T | CA410898427 | IGLL1 | c.592C>A (p.His198Asn) c.*221C>A (n.*221C>A) c.595C>A (p.His199Asn) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.23573317C>A | CA10143217 | IGLL1 | c.591G>T (p.Met197Ile) c.*220G>T (n.*220G>T) c.594G>T (p.Met198Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.23573317C= | CA2397855847 | IGLL1 | c.591G= (p.Met197=) c.*220G= (n.*220G=) c.594G= (p.Met198=) | |
22 | g.23573317C>G | CA410898429 | IGLL1 | c.591G>C (p.Met197Ile) c.*220G>C (n.*220G>C) c.594G>C (p.Met198Ile) | |
22 | g.23573317C>T | CA410898428 | IGLL1 | c.591G>A (p.Met197Ile) c.*220G>A (n.*220G>A) c.594G>A (p.Met198Ile) | |
22 | g.23573318A= | CA2397855848 | IGLL1 | c.590T= (p.Met197=) c.*219T= (n.*219T=) c.593T= (p.Met198=) | |
22 | g.23573318A>C | CA10143219 | IGLL1 | c.590T>G (p.Met197Arg) c.*219T>G (n.*219T>G) c.593T>G (p.Met198Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.23573318A>G | CA10143218 | IGLL1 | c.590T>C (p.Met197Thr) c.*219T>C (n.*219T>C) c.593T>C (p.Met198Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573318A>T | CA410898430 | IGLL1 | c.590T>A (p.Met197Lys) c.*219T>A (n.*219T>A) c.593T>A (p.Met198Lys) | |
22 | g.23573319T>A | CA410898431 | IGLL1 | c.589A>T (p.Met197Leu) c.*218A>T (n.*218A>T) c.592A>T (p.Met198Leu) | |
22 | g.23573319T>C | CA410898432 | IGLL1 | c.589A>G (p.Met197Val) c.*218A>G (n.*218A>G) c.592A>G (p.Met198Val) | |
22 | g.23573319T>G | CA410898433 | IGLL1 | c.589A>C (p.Met197Leu) c.*218A>C (n.*218A>C) c.592A>C (p.Met198Leu) | gnomAD v4 |
22 | g.23573320G>A | CA10143220 | IGLL1 | c.588C>T (p.Val196=) c.*217C>T (n.*217C>T) c.591C>T (p.Val197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573320G>C | CA513685744 | IGLL1 | c.588C>G (p.Val196=) c.*217C>G (n.*217C>G) c.591C>G (p.Val197=) | |
22 | g.23573320G= | CA2397855849 | IGLL1 | c.588C= (p.Val196=) c.*217C= (n.*217C=) c.591C= (p.Val197=) | |
22 | g.23573320G>T | CA513685745 | IGLL1 | c.588C>A (p.Val196=) c.*217C>A (n.*217C>A) c.591C>A (p.Val197=) | |
22 | g.23573321A>C | CA410898434 | IGLL1 | c.587T>G (p.Val196Gly) c.*216T>G (n.*216T>G) c.590T>G (p.Val197Gly) | |
22 | g.23573321A>G | CA410898435 | IGLL1 | c.587T>C (p.Val196Ala) c.*216T>C (n.*216T>C) c.590T>C (p.Val197Ala) | |
22 | g.23573321A>T | CA410898436 | IGLL1 | c.587T>A (p.Val196Asp) c.*216T>A (n.*216T>A) c.590T>A (p.Val197Asp) | |
22 | g.23573322C>A | CA410898437 | IGLL1 | c.586G>T (p.Val196Phe) c.*215G>T (n.*215G>T) c.589G>T (p.Val197Phe) | |
22 | g.23573322C>G | CA410898438 | IGLL1 | c.586G>C (p.Val196Leu) c.*215G>C (n.*215G>C) c.589G>C (p.Val197Leu) | |
22 | g.23573322C>T | CA410898439 | IGLL1 | c.586G>A (p.Val196Ile) c.*215G>A (n.*215G>A) c.589G>A (p.Val197Ile) | |
22 | g.23573323C>A | CA10143221 | IGLL1 | c.585G>T (p.Gln195His) c.*214G>T (n.*214G>T) c.588G>T (p.Gln196His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573323C= | CA2397855850 | IGLL1 | c.585G= (p.Gln195=) c.*214G= (n.*214G=) c.588G= (p.Gln196=) | |
22 | g.23573323C>G | CA410898440 | IGLL1 | c.585G>C (p.Gln195His) c.*214G>C (n.*214G>C) c.588G>C (p.Gln196His) | |
22 | g.23573323C>T | CA10143222 | IGLL1 | c.585G>A (p.Gln195=) c.*214G>A (n.*214G>A) c.588G>A (p.Gln196=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.23573324T>A | CA410898442 | IGLL1 | c.584A>T (p.Gln195Leu) c.*213A>T (n.*213A>T) c.587A>T (p.Gln196Leu) | |
22 | g.23573324T>C | CA10143223 | IGLL1 | c.584A>G (p.Gln195Arg) c.*213A>G (n.*213A>G) c.587A>G (p.Gln196Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.23573324T>G | CA410898441 | IGLL1 | c.584A>C (p.Gln195Pro) c.*213A>C (n.*213A>C) c.587A>C (p.Gln196Pro) | |
22 | g.23573324T= | CA2397855851 | IGLL1 | c.584A= (p.Gln195=) c.*213A= (n.*213A=) c.587A= (p.Gln196=) | |
22 | g.23573325G>A | CA410898443 | IGLL1 | c.583C>T (p.Gln195Ter) c.*212C>T (n.*212C>T) c.586C>T (p.Gln196Ter) | |
22 | g.23573325G>C | CA410898444 | IGLL1 | c.583C>G (p.Gln195Glu) c.*212C>G (n.*212C>G) c.586C>G (p.Gln196Glu) | |
22 | g.23573325G>T | CA410898445 | IGLL1 | c.583C>A (p.Gln195Lys) c.*212C>A (n.*212C>A) c.586C>A (p.Gln196Lys) | |
22 | g.23573326G>A | CA513685753 | IGLL1 | c.582C>T (p.Cys194=) c.*211C>T (n.*211C>T) c.585C>T (p.Cys195=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.23573326G>C | CA410898446 | IGLL1 | c.582C>G (p.Cys194Trp) c.*211C>G (n.*211C>G) c.585C>G (p.Cys195Trp) | |
22 | g.23573326G= | CA2397855852 | IGLL1 | c.582C= (p.Cys194=) c.*211C= (n.*211C=) c.585C= (p.Cys195=) | |
22 | g.23573326G>T | CA410898447 | IGLL1 | c.582C>A (p.Cys194Ter) c.*211C>A (n.*211C>A) c.585C>A (p.Cys195Ter) | |
22 | g.23573327C>A | CA410898448 | IGLL1 | c.581G>T (p.Cys194Phe) c.*210G>T (n.*210G>T) c.584G>T (p.Cys195Phe) | |
22 | g.23573327C>G | CA410898449 | IGLL1 | c.581G>C (p.Cys194Ser) c.*210G>C (n.*210G>C) c.584G>C (p.Cys195Ser) | |
22 | g.23573327C>T | CA410898450 | IGLL1 | c.581G>A (p.Cys194Tyr) c.*210G>A (n.*210G>A) c.584G>A (p.Cys195Tyr) | |
22 | g.23573328A>C | CA410898451 | IGLL1 | c.580T>G (p.Cys194Gly) c.*209T>G (n.*209T>G) c.583T>G (p.Cys195Gly) | |
22 | g.23573328A>G | CA410898452 | IGLL1 | c.580T>C (p.Cys194Arg) c.*209T>C (n.*209T>C) c.583T>C (p.Cys195Arg) | |
22 | g.23573328A>T | CA410898453 | IGLL1 | c.580T>A (p.Cys194Ser) c.*209T>A (n.*209T>A) c.583T>A (p.Cys195Ser) | |
22 | g.23573329G>A | CA513685758 | IGLL1 | c.579C>T (p.Ser193=) c.*208C>T (n.*208C>T) c.582C>T (p.Ser194=) | |
22 | g.23573329G>C | CA410898454 | IGLL1 | c.579C>G (p.Ser193Arg) c.*208C>G (n.*208C>G) c.582C>G (p.Ser194Arg) | |
22 | g.23573329G= | CA2397855853 | IGLL1 | c.579C= (p.Ser193=) c.*208C= (n.*208C=) c.582C= (p.Ser194=) | |
22 | g.23573329G>T | CA10143224 | IGLL1 | c.579C>A (p.Ser193Arg) c.*208C>A (n.*208C>A) c.582C>A (p.Ser194Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.23573330C>A | CA410898456 | IGLL1 | c.578G>T (p.Ser193Ile) c.*207G>T (n.*207G>T) c.581G>T (p.Ser194Ile) | |
22 | g.23573330C>G | CA410898457 | IGLL1 | c.578G>C (p.Ser193Thr) c.*207G>C (n.*207G>C) c.581G>C (p.Ser194Thr) | dbSNP |
22 | g.23573330C>T | CA410898455 | IGLL1 | c.578G>A (p.Ser193Asn) c.*207G>A (n.*207G>A) c.581G>A (p.Ser194Asn) | |
22 | g.23573331T>A | CA410898458 | IGLL1 | c.577A>T (p.Ser193Cys) c.*206A>T (n.*206A>T) c.580A>T (p.Ser194Cys) | |
22 | g.23573331T>C | CA410898459 | IGLL1 | c.577A>G (p.Ser193Gly) c.*206A>G (n.*206A>G) c.580A>G (p.Ser194Gly) | |
22 | g.23573331T>G | CA410898460 | IGLL1 | c.577A>C (p.Ser193Arg) c.*206A>C (n.*206A>C) c.580A>C (p.Ser194Arg) | |
22 | g.23573332G>A | CA513685760 | IGLL1 | c.576C>T (p.Tyr192=) c.*205C>T (n.*205C>T) c.579C>T (p.Tyr193=) | |
22 | g.23573332G>C | CA410898461 | IGLL1 | c.576C>G (p.Tyr192Ter) c.*205C>G (n.*205C>G) c.579C>G (p.Tyr193Ter) | |
22 | g.23573332G>T | CA410898462 | IGLL1 | c.576C>A (p.Tyr192Ter) c.*205C>A (n.*205C>A) c.579C>A (p.Tyr193Ter) | |
22 | g.23573333T>A | CA410898463 | IGLL1 | c.575A>T (p.Tyr192Phe) c.*204A>T (n.*204A>T) c.578A>T (p.Tyr193Phe) | |
22 | g.23573333T>C | CA410898464 | IGLL1 | c.575A>G (p.Tyr192Cys) c.*204A>G (n.*204A>G) c.578A>G (p.Tyr193Cys) | gnomAD v4 |
22 | g.23573333T>G | CA410898465 | IGLL1 | c.575A>C (p.Tyr192Ser) c.*204A>C (n.*204A>C) c.578A>C (p.Tyr193Ser) | |
22 | g.23573334A>C | CA410898466 | IGLL1 | c.574T>G (p.Tyr192Asp) c.*203T>G (n.*203T>G) c.577T>G (p.Tyr193Asp) | |
22 | g.23573334A>G | CA410898467 | IGLL1 | c.574T>C (p.Tyr192His) c.*203T>C (n.*203T>C) c.577T>C (p.Tyr193His) | |
22 | g.23573334A>T | CA410898468 | IGLL1 | c.574T>A (p.Tyr192Asn) c.*203T>A (n.*203T>A) c.577T>A (p.Tyr193Asn) | |
22 | g.23573335G>A | CA513685764 | IGLL1 | c.573C>T (p.Ser191=) c.*202C>T (n.*202C>T) c.576C>T (p.Ser192=) | |
22 | g.23573335G>C | CA410898469 | IGLL1 | c.573C>G (p.Ser191Arg) c.*202C>G (n.*202C>G) c.576C>G (p.Ser192Arg) | |
22 | g.23573335G>T | CA410898470 | IGLL1 | c.573C>A (p.Ser191Arg) c.*202C>A (n.*202C>A) c.576C>A (p.Ser192Arg) | |
22 | g.23573336C>A | CA410898471 | IGLL1 | c.572G>T (p.Ser191Ile) c.*201G>T (n.*201G>T) c.575G>T (p.Ser192Ile) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.23573336C= | CA2397855854 | IGLL1 | c.572G= (p.Ser191=) c.*201G= (n.*201G=) c.575G= (p.Ser192=) | |
22 | g.23573336C>G | CA410898473 | IGLL1 | c.572G>C (p.Ser191Thr) c.*201G>C (n.*201G>C) c.575G>C (p.Ser192Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573336C>T | CA410898472 | IGLL1 | c.572G>A (p.Ser191Asn) c.*201G>A (n.*201G>A) c.575G>A (p.Ser192Asn) | |
22 | g.23573337T>A | CA410898474 | IGLL1 | c.571A>T (p.Ser191Cys) c.*200A>T (n.*200A>T) c.574A>T (p.Ser192Cys) | |
22 | g.23573337T>C | CA410898475 | IGLL1 | c.571A>G (p.Ser191Gly) c.*200A>G (n.*200A>G) c.574A>G (p.Ser192Gly) | |
22 | g.23573337T>G | CA410898476 | IGLL1 | c.571A>C (p.Ser191Arg) c.*200A>C (n.*200A>C) c.574A>C (p.Ser192Arg) | |
22 | g.23573337_23573338del | CA2514506081 | IGLL1 | c.570_571del (p.Ser191LeufsTer?) c.*199_*200del (n.*199_*200del) c.573_574del (p.Ser192LeufsTer?) | |
22 | g.23573338T>A | CA410898477 | IGLL1 | c.570A>T (p.Arg190Ser) c.*199A>T (n.*199A>T) c.573A>T (p.Arg191Ser) | |
22 | g.23573338T>C | CA513685766 | IGLL1 | c.570A>G (p.Arg190=) c.*199A>G (n.*199A>G) c.573A>G (p.Arg191=) | |
22 | g.23573338T>G | CA410898478 | IGLL1 | c.570A>C (p.Arg190Ser) c.*199A>C (n.*199A>C) c.573A>C (p.Arg191Ser) | |
22 | g.23573339C>A | CA410898479 | IGLL1 | c.569G>T (p.Arg190Ile) c.*198G>T (n.*198G>T) c.572G>T (p.Arg191Ile) | |
22 | g.23573339C>G | CA410898480 | IGLL1 | c.569G>C (p.Arg190Thr) c.*198G>C (n.*198G>C) c.572G>C (p.Arg191Thr) | |
22 | g.23573339C>T | CA410898481 | IGLL1 | c.569G>A (p.Arg190Lys) c.*198G>A (n.*198G>A) c.572G>A (p.Arg191Lys) | COSMIC |
22 | g.23573340del | CA2534123795 | IGLL1 | c.568del (p.Arg190GlufsTer?) c.*197del (n.*197del) c.571del (p.Arg191GlufsTer?) | |
22 | g.23573340T>A | CA410898482 | IGLL1 | c.568A>T (p.Arg190Ter) c.*197A>T (n.*197A>T) c.571A>T (p.Arg191Ter) | |
22 | g.23573340T>C | CA410898483 | IGLL1 | c.568A>G (p.Arg190Gly) c.*197A>G (n.*197A>G) c.571A>G (p.Arg191Gly) | dbSNP gnomAD v4 |
22 | g.23573340T>G | CA513685768 | IGLL1 | c.568A>C (p.Arg190=) c.*197A>C (n.*197A>C) c.571A>C (p.Arg191=) | |
22 | g.23573340T= | CA2397855855 | IGLL1 | c.568A= (p.Arg190=) c.*197A= (n.*197A=) c.571A= (p.Arg191=) | |
22 | g.23573341G>A | CA513685769 | IGLL1 | c.567C>T (p.Arg189=) c.*196C>T (n.*196C>T) c.570C>T (p.Arg190=) | |
22 | g.23573341G>C | CA513685771 | IGLL1 | c.567C>G (p.Arg189=) c.*196C>G (n.*196C>G) c.570C>G (p.Arg190=) | gnomAD v4 |
22 | g.23573341G>T | CA513685770 | IGLL1 | c.567C>A (p.Arg189=) c.*196C>A (n.*196C>A) c.570C>A (p.Arg190=) | |
22 | g.23573342C>A | CA410898485 | IGLL1 | c.566G>T (p.Arg189Leu) c.*195G>T (n.*195G>T) c.569G>T (p.Arg190Leu) | gnomAD v4 |
22 | g.23573342C= | CA2397855856 | IGLL1 | c.566G= (p.Arg189=) c.*195G= (n.*195G=) c.569G= (p.Arg190=) | |
22 | g.23573342C>G | CA410898484 | IGLL1 | c.566G>C (p.Arg189Pro) c.*195G>C (n.*195G>C) c.569G>C (p.Arg190Pro) | gnomAD v4 |
22 | g.23573342C>T | CA10143225 | IGLL1 | c.566G>A (p.Arg189His) c.*195G>A (n.*195G>A) c.569G>A (p.Arg190His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573343G>A | CA10143226 | IGLL1 | c.565C>T (p.Arg189Cys) c.*194C>T (n.*194C>T) c.568C>T (p.Arg190Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.23573343G>C | CA410898487 | IGLL1 | c.565C>G (p.Arg189Gly) c.*194C>G (n.*194C>G) c.568C>G (p.Arg190Gly) | |
22 | g.23573343G= | CA2397855857 | IGLL1 | c.565C= (p.Arg189=) c.*194C= (n.*194C=) c.568C= (p.Arg190=) | |
22 | g.23573343G>T | CA410898486 | IGLL1 | c.565C>A (p.Arg189Ser) c.*194C>A (n.*194C>A) c.568C>A (p.Arg190Ser) | |
22 | g.23573344G>A | CA513685772 | IGLL1 | c.564C>T (p.Ser188=) c.*193C>T (n.*193C>T) c.567C>T (p.Ser189=) | |
22 | g.23573344G>C | CA513685773 | IGLL1 | c.564C>G (p.Ser188=) c.*193C>G (n.*193C>G) c.567C>G (p.Ser189=) | |
22 | g.23573344G= | CA2397855858 | IGLL1 | c.564C= (p.Ser188=) c.*193C= (n.*193C=) c.567C= (p.Ser189=) | |
22 | g.23573344G>T | CA513685774 | IGLL1 | c.564C>A (p.Ser188=) c.*193C>A (n.*193C>A) c.567C>A (p.Ser189=) | dbSNP gnomAD v2 |
22 | g.23573345G>A | CA322555811 | IGLL1 | c.563C>T (p.Ser188Phe) c.*192C>T (n.*192C>T) c.566C>T (p.Ser189Phe) | dbSNP |
22 | g.23573345G>C | CA410898488 | IGLL1 | c.563C>G (p.Ser188Cys) c.*192C>G (n.*192C>G) c.566C>G (p.Ser189Cys) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.23573345G= | CA2397855859 | IGLL1 | c.563C= (p.Ser188=) c.*192C= (n.*192C=) c.566C= (p.Ser189=) | |
22 | g.23573345G>T | CA410898489 | IGLL1 | c.563C>A (p.Ser188Tyr) c.*192C>A (n.*192C>A) c.566C>A (p.Ser189Tyr) | |
22 | g.23573346A= | CA2397855860 | IGLL1 | c.562T= (p.Ser188=) c.*191T= (n.*191T=) c.565T= (p.Ser189=) | |
22 | g.23573346A>C | CA410898490 | IGLL1 | c.562T>G (p.Ser188Ala) c.*191T>G (n.*191T>G) c.565T>G (p.Ser189Ala) | |
22 | g.23573346A>G | CA410898491 | IGLL1 | c.562T>C (p.Ser188Pro) c.*191T>C (n.*191T>C) c.565T>C (p.Ser189Pro) | dbSNP |
22 | g.23573346A>T | CA410898492 | IGLL1 | c.562T>A (p.Ser188Thr) c.*191T>A (n.*191T>A) c.565T>A (p.Ser189Thr) | gnomAD v4 |
22 | g.23573346_23573347insAGATTT | CA2527559444 | IGLL1 | c.561_562insAAATCT (p.Arg187_Ser188insLysSer) c.*190_*191insAAATCT (n.*190_*191insAAATCT) c.564_565insAAATCT (p.Arg188_Ser189insLysSer) | |
22 | g.23573347C>A | CA410898493 | IGLL1 | c.561G>T (p.Arg187Ser) c.*190G>T (n.*190G>T) c.564G>T (p.Arg188Ser) | gnomAD v4 |
22 | g.23573347C>G | CA410898494 | IGLL1 | c.561G>C (p.Arg187Ser) c.*190G>C (n.*190G>C) c.564G>C (p.Arg188Ser) | |
22 | g.23573347C>T | CA513685775 | IGLL1 | c.561G>A (p.Arg187=) c.*190G>A (n.*190G>A) c.564G>A (p.Arg188=) | gnomAD v4 |
22 | g.23573348C>A | CA410898495 | IGLL1 | c.560G>T (p.Arg187Met) c.*189G>T (n.*189G>T) c.563G>T (p.Arg188Met) | gnomAD v4 |
22 | g.23573348C= | CA2397855861 | IGLL1 | c.560G= (p.Arg187=) c.*189G= (n.*189G=) c.563G= (p.Arg188=) | |
22 | g.23573348C>G | CA10143228 | IGLL1 | c.560G>C (p.Arg187Thr) c.*189G>C (n.*189G>C) c.563G>C (p.Arg188Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.23573348C>T | CA10143227 | IGLL1 | c.560G>A (p.Arg187Lys) c.*189G>A (n.*189G>A) c.563G>A (p.Arg188Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.23573348_23573349insAG | CA2546851698 | IGLL1 | c.559_560insCT (p.Arg187ThrfsTer?) c.*188_*189insCT (n.*188_*189insCT) c.562_563insCT (p.Arg188ThrfsTer?) | |
22 | g.23573349T>A | CA410898497 | IGLL1 | c.559A>T (p.Arg187Trp) c.*188A>T (n.*188A>T) c.562A>T (p.Arg188Trp) | |
22 | g.23573349T>C | CA410898496 | IGLL1 | c.559A>G (p.Arg187Gly) c.*188A>G (n.*188A>G) c.562A>G (p.Arg188Gly) | |
22 | g.23573349T>G | CA10143229 | IGLL1 | c.559A>C (p.Arg187=) c.*188A>C (n.*188A>C) c.562A>C (p.Arg188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573349T= | CA2397855862 | IGLL1 | c.559A= (p.Arg187=) c.*188A= (n.*188A=) c.562A= (p.Arg188=) | |
22 | g.23573350C>A | CA410898498 | IGLL1 | c.558G>T (p.Trp186Cys) c.*187G>T (n.*187G>T) c.561G>T (p.Trp187Cys) | |
22 | g.23573350C= | CA2397855863 | IGLL1 | c.558G= (p.Trp186=) c.*187G= (n.*187G=) c.561G= (p.Trp187=) | |
22 | g.23573350C>G | CA410898499 | IGLL1 | c.558G>C (p.Trp186Cys) c.*187G>C (n.*187G>C) c.561G>C (p.Trp187Cys) | gnomAD v4 |
22 | g.23573350C>T | CA10143230 | IGLL1 | c.558G>A (p.Trp186Ter) c.*187G>A (n.*187G>A) c.561G>A (p.Trp187Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.23573351del | CA2513347543 | IGLL1 | c.558del (p.Trp186Ter) c.*187del (n.*187del) c.561del (p.Trp187Ter) | gnomAD v4 |
22 | g.23573351C>A | CA410898500 | IGLL1 | c.557G>T (p.Trp186Leu) c.*186G>T (n.*186G>T) c.560G>T (p.Trp187Leu) | |
22 | g.23573351C>G | CA410898501 | IGLL1 | c.557G>C (p.Trp186Ser) c.*186G>C (n.*186G>C) c.560G>C (p.Trp187Ser) | |
22 | g.23573351C>T | CA410898502 | IGLL1 | c.557G>A (p.Trp186Ter) c.*186G>A (n.*186G>A) c.560G>A (p.Trp187Ter) | |
22 | g.23573352A>C | CA410898503 | IGLL1 | c.556T>G (p.Trp186Gly) c.*185T>G (n.*185T>G) c.559T>G (p.Trp187Gly) | |
22 | g.23573352A>G | CA410898504 | IGLL1 | c.556T>C (p.Trp186Arg) c.*185T>C (n.*185T>C) c.559T>C (p.Trp187Arg) | gnomAD v4 |
22 | g.23573352A>T | CA410898505 | IGLL1 | c.556T>A (p.Trp186Arg) c.*185T>A (n.*185T>A) c.559T>A (p.Trp187Arg) | |
22 | g.23573353C>A | CA410898506 | IGLL1 | c.555G>T (p.Gln185His) c.*184G>T (n.*184G>T) c.558G>T (p.Gln186His) | |
22 | g.23573353C>G | CA410898507 | IGLL1 | c.555G>C (p.Gln185His) c.*184G>C (n.*184G>C) c.558G>C (p.Gln186His) | gnomAD v4 |
22 | g.23573353C>T | CA513685776 | IGLL1 | c.555G>A (p.Gln185=) c.*184G>A (n.*184G>A) c.558G>A (p.Gln186=) | |
22 | g.23573354T>A | CA410898509 | IGLL1 | c.554A>T (p.Gln185Leu) c.*183A>T (n.*183A>T) c.557A>T (p.Gln186Leu) | |
22 | g.23573354T>C | CA410898510 | IGLL1 | c.554A>G (p.Gln185Arg) c.*183A>G (n.*183A>G) c.557A>G (p.Gln186Arg) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.23573354T>G | CA410898508 | IGLL1 | c.554A>C (p.Gln185Pro) c.*183A>C (n.*183A>C) c.557A>C (p.Gln186Pro) | |
22 | g.23573354T= | CA2397855864 | IGLL1 | c.554A= (p.Gln185=) c.*183A= (n.*183A=) c.557A= (p.Gln186=) | |
22 | g.23573355G>A | CA410898511 | IGLL1 | c.553C>T (p.Gln185Ter) c.*182C>T (n.*182C>T) c.556C>T (p.Gln186Ter) | ClinVar dbSNP gnomAD v4 |
22 | g.23573355G>C | CA410898512 | IGLL1 | c.553C>G (p.Gln185Glu) c.*182C>G (n.*182C>G) c.556C>G (p.Gln186Glu) | |
22 | g.23573355G= | CA2397855865 | IGLL1 | c.553C= (p.Gln185=) c.*182C= (n.*182C=) c.556C= (p.Gln186=) | |
22 | g.23573355G>T | CA410898513 | IGLL1 | c.553C>A (p.Gln185Lys) c.*182C>A (n.*182C>A) c.556C>A (p.Gln186Lys) | |
22 | g.23573356_23573360del | CA2507290878 | IGLL1 | c.549_553del (p.Glu184ValfsTer?) c.*178_*182del (n.*178_*182del) c.552_556del (p.Glu185ValfsTer?) | |
22 | g.23573356C>A | CA410898514 | IGLL1 | c.552G>T (p.Glu184Asp) c.*181G>T (n.*181G>T) c.555G>T (p.Glu185Asp) | |
22 | g.23573356C>G | CA410898515 | IGLL1 | c.552G>C (p.Glu184Asp) c.*181G>C (n.*181G>C) c.555G>C (p.Glu185Asp) | |
22 | g.23573356C>T | CA513685777 | IGLL1 | c.552G>A (p.Glu184=) c.*181G>A (n.*181G>A) c.555G>A (p.Glu185=) | |
22 | g.23573357T>A | CA410898516 | IGLL1 | c.551A>T (p.Glu184Val) c.*180A>T (n.*180A>T) c.554A>T (p.Glu185Val) | |
22 | g.23573357T>C | CA410898517 | IGLL1 | c.551A>G (p.Glu184Gly) c.*180A>G (n.*180A>G) c.554A>G (p.Glu185Gly) | |
22 | g.23573357T>G | CA410898518 | IGLL1 | c.551A>C (p.Glu184Ala) c.*180A>C (n.*180A>C) c.554A>C (p.Glu185Ala) | |
22 | g.23573357dup | CA2580099223 | IGLL1 | c.551dup (p.Gln185AlafsTer?) c.*180dup (n.*180dup) c.554dup (p.Gln186AlafsTer?) | ClinVar |
22 | g.23573358C>A | CA322555821 | IGLL1 | c.550G>T (p.Glu184Ter) c.*179G>T (n.*179G>T) c.553G>T (p.Glu185Ter) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.23573358C= | CA2397855866 | IGLL1 | c.550G= (p.Glu184=) c.*179G= (n.*179G=) c.553G= (p.Glu185=) | |
22 | g.23573358C>G | CA410898519 | IGLL1 | c.550G>C (p.Glu184Gln) c.*179G>C (n.*179G>C) c.553G>C (p.Glu185Gln) | |
22 | g.23573358C>T | CA10143231 | IGLL1 | c.550G>A (p.Glu184Lys) c.*179G>A (n.*179G>A) c.553G>A (p.Glu185Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573359G>A | CA10143232 | IGLL1 | c.549C>T (p.Pro183=) c.*178C>T (n.*178C>T) c.552C>T (p.Pro184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573359G>C | CA513685779 | IGLL1 | c.549C>G (p.Pro183=) c.*178C>G (n.*178C>G) c.552C>G (p.Pro184=) | dbSNP gnomAD v4 |
22 | g.23573359G= | CA2397855867 | IGLL1 | c.549C= (p.Pro183=) c.*178C= (n.*178C=) c.552C= (p.Pro184=) | |
22 | g.23573359G>T | CA513685778 | IGLL1 | c.549C>A (p.Pro183=) c.*178C>A (n.*178C>A) c.552C>A (p.Pro184=) | dbSNP gnomAD v4 |
22 | g.23573360G>A | CA410898521 | IGLL1 | c.548C>T (p.Pro183Leu) c.*177C>T (n.*177C>T) c.551C>T (p.Pro184Leu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.23573360G>C | CA410898522 | IGLL1 | c.548C>G (p.Pro183Arg) c.*177C>G (n.*177C>G) c.551C>G (p.Pro184Arg) | |
22 | g.23573360G= | CA2397855868 | IGLL1 | c.548C= (p.Pro183=) c.*177C= (n.*177C=) c.551C= (p.Pro184=) | |
22 | g.23573360G>T | CA410898520 | IGLL1 | c.548C>A (p.Pro183His) c.*177C>A (n.*177C>A) c.551C>A (p.Pro184His) | |
22 | g.23573361G>A | CA410898523 | IGLL1 | c.547C>T (p.Pro183Ser) c.*176C>T (n.*176C>T) c.550C>T (p.Pro184Ser) | |
22 | g.23573361G>C | CA410898524 | IGLL1 | c.547C>G (p.Pro183Ala) c.*176C>G (n.*176C>G) c.550C>G (p.Pro184Ala) | |
22 | g.23573361G>T | CA410898525 | IGLL1 | c.547C>A (p.Pro183Thr) c.*176C>A (n.*176C>A) c.550C>A (p.Pro184Thr) | |
22 | g.23573362C>A | CA513685780 | IGLL1 | c.546G>T (p.Thr182=) c.*175G>T (n.*175G>T) c.549G>T (p.Thr183=) | |
22 | g.23573362C= | CA2397855870 | IGLL1 | c.546G= (p.Thr182=) c.*175G= (n.*175G=) c.549G= (p.Thr183=) | |
22 | g.23573362C>G | CA10143233 | IGLL1 | c.546G>C (p.Thr182=) c.*175G>C (n.*175G>C) c.549G>C (p.Thr183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573362C>T | CA10143234 | IGLL1 | c.546G>A (p.Thr182=) c.*175G>A (n.*175G>A) c.549G>A (p.Thr183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.23573362_23573373delinsCGTCAGGCTCAG | CA2397855869 | IGLL1 | c.535_546delinsCTGAGCCTGACG (p.Leu179=) c.*164_*175delinsCTGAGCCTGACG (n.*164_*175delinsCTGAGCCTGACG) c.538_549delinsCTGAGCCTGACG (p.Leu180=) | |
22 | g.23573363G>A | CA10143235 | IGLL1 | c.545C>T (p.Thr182Met) c.*174C>T (n.*174C>T) c.548C>T (p.Thr183Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573363G>C | CA410898526 | IGLL1 | c.545C>G (p.Thr182Arg) c.*174C>G (n.*174C>G) c.548C>G (p.Thr183Arg) | |
22 | g.23573363G= | CA2397855872 | IGLL1 | c.545C= (p.Thr182=) c.*174C= (n.*174C=) c.548C= (p.Thr183=) | |
22 | g.23573363G>T | CA410898527 | IGLL1 | c.545C>A (p.Thr182Lys) c.*174C>A (n.*174C>A) c.548C>A (p.Thr183Lys) | dbSNP |
22 | g.23573363dup | CA2540254578 | IGLL1 | c.545dup (p.Pro183AlafsTer?) c.*174dup (n.*174dup) c.548dup (p.Pro184AlafsTer?) | |
22 | g.23573365_23573375del | CA2397855871 | IGLL1 | c.535_545del (p.Leu179AlafsTer?) c.*164_*174del (n.*164_*174del) c.538_548del (p.Leu180AlafsTer?) | dbSNP |
22 | g.23573364T>A | CA410898528 | IGLL1 | c.544A>T (p.Thr182Ser) c.*173A>T (n.*173A>T) c.547A>T (p.Thr183Ser) | |
22 | g.23573364T>C | CA10143236 | IGLL1 | c.544A>G (p.Thr182Ala) c.*173A>G (n.*173A>G) c.547A>G (p.Thr183Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.23573364T>G | CA410898529 | IGLL1 | c.544A>C (p.Thr182Pro) c.*173A>C (n.*173A>C) c.547A>C (p.Thr183Pro) | |
22 | g.23573364T= | CA2397855873 | IGLL1 | c.544A= (p.Thr182=) c.*173A= (n.*173A=) c.547A= (p.Thr183=) | |
22 | g.23573365C>A | CA513685781 | IGLL1 | c.543G>T (p.Leu181=) c.*172G>T (n.*172G>T) c.546G>T (p.Leu182=) | |
22 | g.23573365C>G | CA513685782 | IGLL1 | c.543G>C (p.Leu181=) c.*172G>C (n.*172G>C) c.546G>C (p.Leu182=) | |
22 | g.23573365C>T | CA513685783 | IGLL1 | c.543G>A (p.Leu181=) c.*172G>A (n.*172G>A) c.546G>A (p.Leu182=) |