Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
22 | g.23573366A= | CA2397855874 | IGLL1 | c.542T= (p.Leu181=) c.*171T= (n.*171T=) c.545T= (p.Leu182=) | |
22 | g.23573366A>C | CA410898530 | IGLL1 | c.542T>G (p.Leu181Arg) c.*171T>G (n.*171T>G) c.545T>G (p.Leu182Arg) | |
22 | g.23573366A>G | CA322555831 | IGLL1 | c.542T>C (p.Leu181Pro) c.*171T>C (n.*171T>C) c.545T>C (p.Leu182Pro) | ClinVar dbSNP |
22 | g.23573366A>T | CA410898531 | IGLL1 | c.542T>A (p.Leu181Gln) c.*171T>A (n.*171T>A) c.545T>A (p.Leu182Gln) | |
22 | g.23573367G>A | CA513685784 | IGLL1 | c.541C>T (p.Leu181=) c.*170C>T (n.*170C>T) c.544C>T (p.Leu182=) | |
22 | g.23573367G>C | CA410898532 | IGLL1 | c.541C>G (p.Leu181Val) c.*170C>G (n.*170C>G) c.544C>G (p.Leu182Val) | |
22 | g.23573367G>T | CA410898533 | IGLL1 | c.541C>A (p.Leu181Met) c.*170C>A (n.*170C>A) c.544C>A (p.Leu182Met) | |
22 | g.23573368G>A | CA513685785 | IGLL1 | c.540C>T (p.Ser180=) c.*169C>T (n.*169C>T) c.543C>T (p.Ser181=) | dbSNP |
22 | g.23573368G>C | CA410898534 | IGLL1 | c.540C>G (p.Ser180Arg) c.*169C>G (n.*169C>G) c.543C>G (p.Ser181Arg) | gnomAD v4 |
22 | g.23573368G>T | CA410898535 | IGLL1 | c.540C>A (p.Ser180Arg) c.*169C>A (n.*169C>A) c.543C>A (p.Ser181Arg) | |
22 | g.23573369C>A | CA410898536 | IGLL1 | c.539G>T (p.Ser180Ile) c.*168G>T (n.*168G>T) c.542G>T c.542G>T (p.Ser181Ile) | |
22 | g.23573369C>G | CA410898537 | IGLL1 | c.539G>C (p.Ser180Thr) c.*168G>C (n.*168G>C) c.542G>C c.542G>C (p.Ser181Thr) | |
22 | g.23573369C>T | CA410898538 | IGLL1 | c.539G>A (p.Ser180Asn) c.*168G>A (n.*168G>A) c.542G>A c.542G>A (p.Ser181Asn) | COSMIC |
22 | g.23573370T>A | CA410898539 | IGLL1 | c.538A>T (p.Ser180Cys) c.*167A>T (n.*167A>T) c.541A>T c.541A>T (p.Ser181Cys) | |
22 | g.23573370T>C | CA410898540 | IGLL1 | c.538A>G (p.Ser180Gly) c.*167A>G (n.*167A>G) c.541A>G c.541A>G (p.Ser181Gly) | |
22 | g.23573370T>G | CA410898541 | IGLL1 | c.538A>C (p.Ser180Arg) c.*167A>C (n.*167A>C) c.541A>C c.541A>C (p.Ser181Arg) | |
22 | g.23573371C>A | CA513685786 | IGLL1 | c.537G>T (p.Leu179=) c.*166G>T (n.*166G>T) c.540G>T (p.Leu180=) | gnomAD v4 |
22 | g.23573371C= | CA2397855875 | IGLL1 | c.537G= (p.Leu179=) c.*166G= (n.*166G=) c.540G= (p.Leu180=) | |
22 | g.23573371C>G | CA513685787 | IGLL1 | c.537G>C (p.Leu179=) c.*166G>C (n.*166G>C) c.540G>C (p.Leu180=) | |
22 | g.23573371C>T | CA322555834 | IGLL1 | c.537G>A (p.Leu179=) c.*166G>A (n.*166G>A) c.540G>A (p.Leu180=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.23573372A= | CA2397855876 | IGLL1 | c.536T= (p.Leu179=) c.*165T= (n.*165T=) c.539T= (p.Leu180=) | |
22 | g.23573372A>C | CA10143237 | IGLL1 | c.536T>G (p.Leu179Arg) c.*165T>G (n.*165T>G) c.539T>G (p.Leu180Arg) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
22 | g.23573372A>G | CA410898543 | IGLL1 | c.536T>C (p.Leu179Pro) c.*165T>C (n.*165T>C) c.539T>C (p.Leu180Pro) | dbSNP |
22 | g.23573372A>T | CA410898542 | IGLL1 | c.536T>A (p.Leu179Gln) c.*165T>A (n.*165T>A) c.539T>A (p.Leu180Gln) | |
22 | g.23573373G>A | CA513685788 | IGLL1 | c.535C>T (p.Leu179=) c.*164C>T (n.*164C>T) c.538C>T (p.Leu180=) | |
22 | g.23573373G>C | CA410898544 | IGLL1 | c.535C>G (p.Leu179Val) c.*164C>G (n.*164C>G) c.538C>G (p.Leu180Val) | |
22 | g.23573373G>T | CA410898545 | IGLL1 | c.535C>A (p.Leu179Met) c.*164C>A (n.*164C>A) c.538C>A (p.Leu180Met) | |
22 | g.23573374G>A | CA513685789 | IGLL1 | c.534C>T (p.Tyr178=) c.*163C>T (n.*163C>T) c.537C>T (p.Tyr179=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.23573374G>C | CA410898546 | IGLL1 | c.534C>G (p.Tyr178Ter) c.*163C>G (n.*163C>G) c.537C>G (p.Tyr179Ter) | |
22 | g.23573374G= | CA2397855877 | IGLL1 | c.534C= (p.Tyr178=) c.*163C= (n.*163C=) c.537C= (p.Tyr179=) | |
22 | g.23573374G>T | CA410898547 | IGLL1 | c.534C>A (p.Tyr178Ter) c.*163C>A (n.*163C>A) c.537C>A (p.Tyr179Ter) | |
22 | g.23573375T>A | CA410898550 | IGLL1 | c.533A>T (p.Tyr178Phe) c.*162A>T (n.*162A>T) c.536A>T (p.Tyr179Phe) | |
22 | g.23573375T>C | CA410898548 | IGLL1 | c.533A>G (p.Tyr178Cys) c.*162A>G (n.*162A>G) c.536A>G (p.Tyr179Cys) | dbSNP |
22 | g.23573375T>G | CA410898549 | IGLL1 | c.533A>C (p.Tyr178Ser) c.*162A>C (n.*162A>C) c.536A>C (p.Tyr179Ser) | |
22 | g.23573375T= | CA2397855878 | IGLL1 | c.533A= (p.Tyr178=) c.*162A= (n.*162A=) c.536A= (p.Tyr179=) | |
22 | g.23573376A= | CA2397855879 | IGLL1 | c.532T= (p.Tyr178=) c.*161T= (n.*161T=) c.535T= (p.Tyr179=) | |
22 | g.23573376A>C | CA410898551 | IGLL1 | c.532T>G (p.Tyr178Asp) c.*161T>G (n.*161T>G) c.535T>G (p.Tyr179Asp) | |
22 | g.23573376A>G | CA10143238 | IGLL1 | c.532T>C (p.Tyr178His) c.*161T>C (n.*161T>C) c.535T>C (p.Tyr179His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.23573376A>T | CA410898552 | IGLL1 | c.532T>A (p.Tyr178Asn) c.*161T>A (n.*161T>A) c.535T>A (p.Tyr179Asn) | |
22 | g.23573377G>A | CA513685790 | IGLL1 | c.531C>T (p.Ser177=) c.*160C>T (n.*160C>T) c.534C>T (p.Ser178=) | |
22 | g.23573377G>C | CA410898553 | IGLL1 | c.531C>G (p.Ser177Arg) c.*160C>G (n.*160C>G) c.534C>G (p.Ser178Arg) | |
22 | g.23573377G>T | CA410898554 | IGLL1 | c.531C>A (p.Ser177Arg) c.*160C>A (n.*160C>A) c.534C>A (p.Ser178Arg) | |
22 | g.23573378C>A | CA410898555 | IGLL1 | c.530G>T (p.Ser177Ile) c.*159G>T (n.*159G>T) c.533G>T (p.Ser178Ile) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.23573378C= | CA2397855880 | IGLL1 | c.530G= (p.Ser177=) c.*159G= (n.*159G=) c.533G= (p.Ser178=) | |
22 | g.23573378C>G | CA410898556 | IGLL1 | c.530G>C (p.Ser177Thr) c.*159G>C (n.*159G>C) c.533G>C (p.Ser178Thr) | dbSNP |
22 | g.23573378C>T | CA410898557 | IGLL1 | c.530G>A (p.Ser177Asn) c.*159G>A (n.*159G>A) c.533G>A (p.Ser178Asn) | |
22 | g.23573379T>A | CA410898558 | IGLL1 | c.529A>T (p.Ser177Cys) c.*158A>T (n.*158A>T) c.532A>T (p.Ser178Cys) | |
22 | g.23573379T>C | CA410898559 | IGLL1 | c.529A>G (p.Ser177Gly) c.*158A>G (n.*158A>G) c.532A>G (p.Ser178Gly) | |
22 | g.23573379T>G | CA410898560 | IGLL1 | c.529A>C (p.Ser177Arg) c.*158A>C (n.*158A>C) c.532A>C (p.Ser178Arg) | |
22 | g.23573380G>A | CA513685791 | IGLL1 | c.528C>T (p.Ser176=) c.*157C>T (n.*157C>T) c.531C>T (p.Ser177=) | gnomAD v4 |
22 | g.23573380G>C | CA410898561 | IGLL1 | c.528C>G (p.Ser176Arg) c.*157C>G (n.*157C>G) c.531C>G (p.Ser177Arg) | |
22 | g.23573380G>T | CA410898562 | IGLL1 | c.528C>A (p.Ser176Arg) c.*157C>A (n.*157C>A) c.531C>A (p.Ser177Arg) | |
22 | g.23573381C>A | CA410898563 | IGLL1 | c.527G>T (p.Ser176Ile) c.*156G>T (n.*156G>T) c.530G>T (p.Ser177Ile) | |
22 | g.23573381C= | CA2397855881 | IGLL1 | c.527G= (p.Ser176=) c.*156G= (n.*156G=) c.530G= (p.Ser177=) | |
22 | g.23573381C>G | CA410898564 | IGLL1 | c.527G>C (p.Ser176Thr) c.*156G>C (n.*156G>C) c.530G>C (p.Ser177Thr) | |
22 | g.23573381C>T | CA10143239 | IGLL1 | c.527G>A (p.Ser176Asn) c.*156G>A (n.*156G>A) c.530G>A (p.Ser177Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.23573382T>A | CA410898565 | IGLL1 | c.526A>T (p.Ser176Cys) c.*155A>T (n.*155A>T) c.529A>T (p.Ser177Cys) | |
22 | g.23573382T>C | CA410898566 | IGLL1 | c.526A>G (p.Ser176Gly) c.*155A>G (n.*155A>G) c.529A>G (p.Ser177Gly) | |
22 | g.23573382T>G | CA410898567 | IGLL1 | c.526A>C (p.Ser176Arg) c.*155A>C (n.*155A>C) c.529A>C (p.Ser177Arg) | |
22 | g.23573383G>A | CA513685792 | IGLL1 | c.525C>T (p.Ala175=) c.*154C>T (n.*154C>T) c.528C>T (p.Ala176=) | ClinVar dbSNP |
22 | g.23573383G>C | CA513685793 | IGLL1 | c.525C>G (p.Ala175=) c.*154C>G (n.*154C>G) c.528C>G (p.Ala176=) | |
22 | g.23573383G>T | CA513685794 | IGLL1 | c.525C>A (p.Ala175=) c.*154C>A (n.*154C>A) c.528C>A (p.Ala176=) | |
22 | g.23573384G>A | CA410898568 | IGLL1 | c.524C>T (p.Ala175Val) c.*153C>T (n.*153C>T) c.527C>T (p.Ala176Val) | |
22 | g.23573384G>C | CA410898569 | IGLL1 | c.524C>G (p.Ala175Gly) c.*153C>G (n.*153C>G) c.527C>G (p.Ala176Gly) | |
22 | g.23573384G>T | CA410898570 | IGLL1 | c.524C>A (p.Ala175Asp) c.*153C>A (n.*153C>A) c.527C>A (p.Ala176Asp) | |
22 | g.23573385C>A | CA410898571 | IGLL1 | c.523G>T (p.Ala175Ser) c.*152G>T (n.*152G>T) c.526G>T (p.Ala176Ser) | |
22 | g.23573385C>G | CA410898572 | IGLL1 | c.523G>C (p.Ala175Pro) c.*152G>C (n.*152G>C) c.526G>C (p.Ala176Pro) | |
22 | g.23573385C>T | CA410898573 | IGLL1 | c.523G>A (p.Ala175Thr) c.*152G>A (n.*152G>A) c.526G>A (p.Ala176Thr) | gnomAD v4 |
22 | g.23573386C>A | CA513685795 | IGLL1 | c.522G>T (p.Ala174=) c.*151G>T (n.*151G>T) c.525G>T (p.Ala175=) | |
22 | g.23573386C= | CA2397855882 | IGLL1 | c.522G= (p.Ala174=) c.*151G= (n.*151G=) c.525G= (p.Ala175=) | |
22 | g.23573386C>G | CA513685796 | IGLL1 | c.522G>C (p.Ala174=) c.*151G>C (n.*151G>C) c.525G>C (p.Ala175=) | |
22 | g.23573386C>T | CA10143240 | IGLL1 | c.522G>A (p.Ala174=) c.*151G>A (n.*151G>A) c.525G>A (p.Ala175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573388_23573389dup | CA2577661762 | IGLL1 | c.521_522dup (p.Ala175ArgfsTer6) c.*150_*151dup (n.*150_*151dup) c.524_525dup (p.Ala176ArgfsTer6) | |
22 | g.23573387G>A | CA10143241 | IGLL1 | c.521C>T (p.Ala174Val) c.*150C>T (n.*150C>T) c.524C>T (p.Ala175Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573387G>C | CA410898574 | IGLL1 | c.521C>G (p.Ala174Gly) c.*150C>G (n.*150C>G) c.524C>G (p.Ala175Gly) | |
22 | g.23573387G= | CA2397855884 | IGLL1 | c.521C= (p.Ala174=) c.*150C= (n.*150C=) c.524C= (p.Ala175=) | |
22 | g.23573387G>T | CA10143242 | IGLL1 | c.521C>A (p.Ala174Glu) c.*150C>A (n.*150C>A) c.524C>A (p.Ala175Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.23573387delinsAT | CA2580615261 | IGLL1 | c.521delinsAT (p.Ala174AspfsTer?) c.*150delinsAT (n.*150delinsAT) c.524delinsAT (p.Ala175AspfsTer?) | ClinVar |
22 | g.23573387_23573388delinsAT | CA658799498 | IGLL1 | c.520_521delinsAT (p.Ala174Met) c.*149_*150delinsAT (n.*149_*150delinsAT) c.523_524delinsAT (p.Ala175Met) | ClinVar dbSNP |
22 | g.23573387_23573388delinsGC | CA2397855883 | IGLL1 | c.520_521delinsGC (p.Ala174=) c.*149_*150delinsGC (n.*149_*150delinsGC) c.523_524delinsGC (p.Ala175=) | |
22 | g.23573388C>A | CA10143244 | IGLL1 | c.520G>T (p.Ala174Ser) c.*149G>T (n.*149G>T) c.523G>T (p.Ala175Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573388C= | CA2397855885 | IGLL1 | c.520G= (p.Ala174=) c.*149G= (n.*149G=) c.523G= (p.Ala175=) | |
22 | g.23573388C>G | CA410898575 | IGLL1 | c.520G>C (p.Ala174Pro) c.*149G>C (n.*149G>C) c.523G>C (p.Ala175Pro) | gnomAD v4 |
22 | g.23573388C>T | CA10143243 | IGLL1 | c.520G>A (p.Ala174Thr) c.*149G>A (n.*149G>A) c.523G>A (p.Ala175Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573389G>A | CA513685797 | IGLL1 | c.519C>T (p.Tyr173=) c.*148C>T (n.*148C>T) c.522C>T (p.Tyr174=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.23573389G>C | CA410898576 | IGLL1 | c.519C>G (p.Tyr173Ter) c.*148C>G (n.*148C>G) c.522C>G (p.Tyr174Ter) | gnomAD v4 |
22 | g.23573389G= | CA2397855886 | IGLL1 | c.519C= (p.Tyr173=) c.*148C= (n.*148C=) c.522C= (p.Tyr174=) | |
22 | g.23573389G>T | CA410898577 | IGLL1 | c.519C>A (p.Tyr173Ter) c.*148C>A (n.*148C>A) c.522C>A (p.Tyr174Ter) | |
22 | g.23573390T>A | CA410898578 | IGLL1 | c.518A>T (p.Tyr173Phe) c.*147A>T (n.*147A>T) c.521A>T (p.Tyr174Phe) | |
22 | g.23573390T>C | CA410898579 | IGLL1 | c.518A>G (p.Tyr173Cys) c.*147A>G (n.*147A>G) c.521A>G (p.Tyr174Cys) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.23573390T>G | CA410898580 | IGLL1 | c.518A>C (p.Tyr173Ser) c.*147A>C (n.*147A>C) c.521A>C (p.Tyr174Ser) | |
22 | g.23573390T= | CA2397855887 | IGLL1 | c.518A= (p.Tyr173=) c.*147A= (n.*147A=) c.521A= (p.Tyr174=) | |
22 | g.23573391A= | CA2397855888 | IGLL1 | c.517T= (p.Tyr173=) c.*146T= (n.*146T=) c.520T= (p.Tyr174=) | |
22 | g.23573391A>C | CA410898581 | IGLL1 | c.517T>G (p.Tyr173Asp) c.*146T>G (n.*146T>G) c.520T>G (p.Tyr174Asp) | |
22 | g.23573391A>G | CA410898582 | IGLL1 | c.517T>C (p.Tyr173His) c.*146T>C (n.*146T>C) c.520T>C (p.Tyr174His) | |
22 | g.23573391A>T | CA410898583 | IGLL1 | c.517T>A (p.Tyr173Asn) c.*146T>A (n.*146T>A) c.520T>A (p.Tyr174Asn) | dbSNP gnomAD v2 gnomAD v4 |