Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.135804712C= | CA1290829283 | LCT | c.4464+55G= (n.4464+55G=) c.2760+55G= (n.2760+55G=) | |
2 | g.135804712C>G | CA757427299 | LCT | c.4464+55G>C (n.4464+55G>C) c.2760+55G>C (n.2760+55G>C) | dbSNP |
2 | g.135804712C>T | CA2661274709 | LCT | c.4464+55G>A (n.4464+55G>A) c.2760+55G>A (n.2760+55G>A) | gnomAD v4 |
2 | g.135804713C>A | CA2661274710 | LCT | c.4464+54G>T (n.4464+54G>T) c.2760+54G>T (n.2760+54G>T) | gnomAD v4 |
2 | g.135804713C= | CA1290829284 | LCT | c.4464+54G= (n.4464+54G=) c.2760+54G= (n.2760+54G=) | |
2 | g.135804713C>T | CA1290829285 | LCT | c.4464+54G>A (n.4464+54G>A) c.2760+54G>A (n.2760+54G>A) | dbSNP gnomAD v4 |
2 | g.135804715T>C | CA2661274713 | LCT | c.4464+52A>G (n.4464+52A>G) c.2760+52A>G (n.2760+52A>G) | dbSNP gnomAD v4 |
2 | g.135804716G>A | CA2577107960 | LCT | c.4464+51C>T (n.4464+51C>T) c.2760+51C>T (n.2760+51C>T) | gnomAD v4 |
2 | g.135804716G>C | CA2661274716 | LCT | c.4464+51C>G (n.4464+51C>G) c.2760+51C>G (n.2760+51C>G) | gnomAD v4 |
2 | g.135804716G>T | CA2661274717 | LCT | c.4464+51C>A (n.4464+51C>A) c.2760+51C>A (n.2760+51C>A) | gnomAD v4 |
2 | g.135804719G= | CA1290829286 | LCT | c.4464+48C= (n.4464+48C=) c.2760+48C= (n.2760+48C=) | |
2 | g.135804719G>T | CA1036798358 | LCT | c.4464+48C>A (n.4464+48C>A) c.2760+48C>A (n.2760+48C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135804720del | CA2661274718 | LCT | c.4464+48del (n.4464+48del) c.2760+48del (n.2760+48del) | gnomAD v4 |
2 | g.135804720G>A | CA56609557 | LCT | c.4464+47C>T (n.4464+47C>T) c.2760+47C>T (n.2760+47C>T) | dbSNP gnomAD v4 |
2 | g.135804720G= | CA1290829287 | LCT | c.4464+47C= (n.4464+47C=) c.2760+47C= (n.2760+47C=) | |
2 | g.135804720G>T | CA2661274719 | LCT | c.4464+47C>A (n.4464+47C>A) c.2760+47C>A (n.2760+47C>A) | gnomAD v4 |
2 | g.135804722_135804725dup | CA1887841 | LCT | c.4464+43_4464+46dup (n.4464+43_4464+46dup) c.2760+43_2760+46dup (n.2760+43_2760+46dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135804722T>A | CA757427303 | LCT | c.4464+45A>T (n.4464+45A>T) c.2760+45A>T (n.2760+45A>T) | dbSNP |
2 | g.135804722T= | CA1290829288 | LCT | c.4464+45A= (n.4464+45A=) c.2760+45A= (n.2760+45A=) | |
2 | g.135804723C= | CA1290829289 | LCT | c.4464+44G= (n.4464+44G=) c.2760+44G= (n.2760+44G=) | |
2 | g.135804723C>T | CA56609569 | LCT | c.4464+44G>A (n.4464+44G>A) c.2760+44G>A (n.2760+44G>A) | dbSNP gnomAD v4 |
2 | g.135804724C= | CA1290829290 | LCT | c.4464+43G= (n.4464+43G=) c.2760+43G= (n.2760+43G=) | |
2 | g.135804724C>T | CA1036798361 | LCT | c.4464+43G>A (n.4464+43G>A) c.2760+43G>A (n.2760+43G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135804725del | CA2577107961 | LCT | c.4464+42del (n.4464+42del) c.2760+42del (n.2760+42del) | |
2 | g.135804726G>A | CA1887842 | LCT | c.4464+41C>T (n.4464+41C>T) c.2760+41C>T (n.2760+41C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135804726G>C | CA1887843 | LCT | c.4464+41C>G (n.4464+41C>G) c.2760+41C>G (n.2760+41C>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.135804726G= | CA1290829291 | LCT | c.4464+41C= (n.4464+41C=) c.2760+41C= (n.2760+41C=) | |
2 | g.135804726G>T | CA2661274723 | LCT | c.4464+41C>A (n.4464+41C>A) c.2760+41C>A (n.2760+41C>A) | gnomAD v4 |
2 | g.135804727C>T | CA2661274728 | LCT | c.4464+40G>A (n.4464+40G>A) c.2760+40G>A (n.2760+40G>A) | gnomAD v4 |
2 | g.135804728A>C | CA2661274729 | LCT | c.4464+39T>G (n.4464+39T>G) c.2760+39T>G (n.2760+39T>G) | gnomAD v4 |
2 | g.135804728_135804736delinsATGTGGACT | CA1290829292 | LCT | c.4464+31_4464+39delinsAGTCCACAT (n.4464+31_4464+39delinsAGTCCACAT) c.2760+31_2760+39delinsAGTCCACAT (n.2760+31_2760+39delinsAGTCCACAT) | |
2 | g.135804729T>A | CA2661274735 | LCT | c.4464+38A>T (n.4464+38A>T) c.2760+38A>T (n.2760+38A>T) | gnomAD v4 |
2 | g.135804729T>C | CA1887845 | LCT | c.4464+38A>G (n.4464+38A>G) c.2760+38A>G (n.2760+38A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135804729T>G | CA2661274736 | LCT | c.4464+38A>C (n.4464+38A>C) c.2760+38A>C (n.2760+38A>C) | gnomAD v4 |
2 | g.135804729T= | CA1290829293 | LCT | c.4464+38A= (n.4464+38A=) c.2760+38A= (n.2760+38A=) | |
2 | g.135804730_135804737del | CA1887844 | LCT | c.4464+31_4464+38del (n.4464+31_4464+38del) c.2760+31_2760+38del (n.2760+31_2760+38del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135804730G>A | CA757427332 | LCT | c.4464+37C>T (n.4464+37C>T) c.2760+37C>T (n.2760+37C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135804730G= | CA1290829294 | LCT | c.4464+37C= (n.4464+37C=) c.2760+37C= (n.2760+37C=) | |
2 | g.135804730G>T | CA2661274739 | LCT | c.4464+37C>A (n.4464+37C>A) c.2760+37C>A (n.2760+37C>A) | gnomAD v4 |
2 | g.135804731T>C | CA2661274740 | LCT | c.4464+36A>G (n.4464+36A>G) c.2760+36A>G (n.2760+36A>G) | gnomAD v4 |
2 | g.135804732G>A | CA2661274742 | LCT | c.4464+35C>T (n.4464+35C>T) c.2760+35C>T (n.2760+35C>T) | gnomAD v4 |
2 | g.135804732G>T | CA2661274743 | LCT | c.4464+35C>A (n.4464+35C>A) c.2760+35C>A (n.2760+35C>A) | gnomAD v4 |
2 | g.135804733del | CA2661274741 | LCT | c.4464+35del (n.4464+35del) c.2760+35del (n.2760+35del) | gnomAD v4 |
2 | g.135804733G>T | CA2661274744 | LCT | c.4464+34C>A (n.4464+34C>A) c.2760+34C>A (n.2760+34C>A) | gnomAD v4 |
2 | g.135804735C>A | CA2661274745 | LCT | c.4464+32G>T (n.4464+32G>T) c.2760+32G>T (n.2760+32G>T) | gnomAD v4 |
2 | g.135804736T>C | CA1290829295 | LCT | c.4464+31A>G (n.4464+31A>G) c.2760+31A>G (n.2760+31A>G) | dbSNP |
2 | g.135804736T= | CA1290829296 | LCT | c.4464+31A= (n.4464+31A=) c.2760+31A= (n.2760+31A=) | |
2 | g.135804738T>C | CA2661274746 | LCT | c.4464+29A>G (n.4464+29A>G) c.2760+29A>G (n.2760+29A>G) | gnomAD v4 |
2 | g.135804739C>A | CA56609590 | LCT | c.4464+28G>T (n.4464+28G>T) c.2760+28G>T (n.2760+28G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135804739C= | CA1290829297 | LCT | c.4464+28G= (n.4464+28G=) c.2760+28G= (n.2760+28G=) | |
2 | g.135804739C>T | CA1887846 | LCT | c.4464+28G>A (n.4464+28G>A) c.2760+28G>A (n.2760+28G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135804740C= | CA1290829298 | LCT | c.4464+27G= (n.4464+27G=) c.2760+27G= (n.2760+27G=) | |
2 | g.135804740C>T | CA56609591 | LCT | c.4464+27G>A (n.4464+27G>A) c.2760+27G>A (n.2760+27G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135804741C= | CA1290829299 | LCT | c.4464+26G= (n.4464+26G=) c.2760+26G= (n.2760+26G=) | |
2 | g.135804741C>T | CA56609594 | LCT | c.4464+26G>A (n.4464+26G>A) c.2760+26G>A (n.2760+26G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135804744G>C | CA1887847 | LCT | c.4464+23C>G (n.4464+23C>G) c.2760+23C>G (n.2760+23C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135804744G= | CA1290829300 | LCT | c.4464+23C= (n.4464+23C=) c.2760+23C= (n.2760+23C=) | |
2 | g.135804745G= | CA1290829301 | LCT | c.4464+22C= (n.4464+22C=) c.2760+22C= (n.2760+22C=) | |
2 | g.135804745G>T | CA536395019 | LCT | c.4464+22C>A (n.4464+22C>A) c.2760+22C>A (n.2760+22C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135804746C>T | CA2661274749 | LCT | c.4464+21G>A (n.4464+21G>A) c.2760+21G>A (n.2760+21G>A) | gnomAD v4 |
2 | g.135804750G>A | CA757427343 | LCT | c.4464+17C>T (n.4464+17C>T) c.2760+17C>T (n.2760+17C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135804750G= | CA1290829302 | LCT | c.4464+17C= (n.4464+17C=) c.2760+17C= (n.2760+17C=) | |
2 | g.135804750G>T | CA1887848 | LCT | c.4464+17C>A (n.4464+17C>A) c.2760+17C>A (n.2760+17C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135804751C>A | CA2661274759 | LCT | c.4464+16G>T (n.4464+16G>T) c.2760+16G>T (n.2760+16G>T) | gnomAD v4 |
2 | g.135804751C>T | CA2577107962 | LCT | c.4464+16G>A (n.4464+16G>A) c.2760+16G>A (n.2760+16G>A) | |
2 | g.135804752C>T | CA2661274761 | LCT | c.4464+15G>A (n.4464+15G>A) c.2760+15G>A (n.2760+15G>A) | gnomAD v4 |
2 | g.135804753A= | CA1290829303 | LCT | c.4464+14T= (n.4464+14T=) c.2760+14T= (n.2760+14T=) | |
2 | g.135804753A>G | CA536395021 | LCT | c.4464+14T>C (n.4464+14T>C) c.2760+14T>C (n.2760+14T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135804755G>C | CA536395022 | LCT | c.4464+12C>G (n.4464+12C>G) c.2760+12C>G (n.2760+12C>G) | dbSNP gnomAD v2 |
2 | g.135804755G= | CA1290829304 | LCT | c.4464+12C= (n.4464+12C=) c.2760+12C= (n.2760+12C=) | |
2 | g.135804755G>T | CA1887849 | LCT | c.4464+12C>A (n.4464+12C>A) c.2760+12C>A (n.2760+12C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135804756A= | CA1290829305 | LCT | c.4464+11T= (n.4464+11T=) c.2760+11T= (n.2760+11T=) | |
2 | g.135804756A>C | CA1290829306 | LCT | c.4464+11T>G (n.4464+11T>G) c.2760+11T>G (n.2760+11T>G) | dbSNP |
2 | g.135804757C>A | CA1290829308 | LCT | c.4464+10G>T (n.4464+10G>T) c.2760+10G>T (n.2760+10G>T) | dbSNP |
2 | g.135804757C= | CA1290829307 | LCT | c.4464+10G= (n.4464+10G=) c.2760+10G= (n.2760+10G=) | |
2 | g.135804757C>T | CA536395023 | LCT | c.4464+10G>A (n.4464+10G>A) c.2760+10G>A (n.2760+10G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135804758C= | CA1290829309 | LCT | c.4464+9G= (n.4464+9G=) c.2760+9G= (n.2760+9G=) | |
2 | g.135804758C>T | CA1887850 | LCT | c.4464+9G>A (n.4464+9G>A) c.2760+9G>A (n.2760+9G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135804759C>A | CA536395024 | LCT | c.4464+8G>T (n.4464+8G>T) c.2760+8G>T (n.2760+8G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135804759C= | CA1290829310 | LCT | c.4464+8G= (n.4464+8G=) c.2760+8G= (n.2760+8G=) | |
2 | g.135804760A= | CA1290829311 | LCT | c.4464+7T= (n.4464+7T=) c.2760+7T= (n.2760+7T=) | |
2 | g.135804760A>C | CA1887851 | LCT | c.4464+7T>G (n.4464+7T>G) c.2760+7T>G (n.2760+7T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135804762C= | CA1290829312 | LCT | c.4464+5G= (n.4464+5G=) c.2760+5G= (n.2760+5G=) | |
2 | g.135804762C>T | CA1036798374 | LCT | c.4464+5G>A (n.4464+5G>A) c.2760+5G>A (n.2760+5G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135804763A>G | CA2661274777 | LCT | c.4464+4T>C (n.4464+4T>C) c.2760+4T>C (n.2760+4T>C) | gnomAD v4 |
2 | g.135804765A>C | CA348595488 | LCT | c.4464+2T>G (n.4464+2T>G) c.2760+2T>G (n.2760+2T>G) | |
2 | g.135804765A>G | CA348595492 | LCT | c.4464+2T>C (n.4464+2T>C) c.2760+2T>C (n.2760+2T>C) | |
2 | g.135804765A>T | CA348595491 | LCT | c.4464+2T>A (n.4464+2T>A) c.2760+2T>A (n.2760+2T>A) | |
2 | g.135804766C>A | CA348595494 | LCT | c.4464+1G>T (n.4464+1G>T) c.2760+1G>T (n.2760+1G>T) | |
2 | g.135804766C>G | CA348595496 | LCT | c.4464+1G>C (n.4464+1G>C) c.2760+1G>C (n.2760+1G>C) | |
2 | g.135804766C>T | CA348595497 | LCT | c.4464+1G>A (n.4464+1G>A) c.2760+1G>A (n.2760+1G>A) | |
2 | g.135804766_135804768dup | CA2661274778 | LCT | c.4463_4464+1dup c.2759_2760+1dup | gnomAD v4 |
2 | g.135804767C>A | CA348595499 | LCT | c.4464G>T (p.Gln1488His) c.2760G>T (p.Gln920His) | |
2 | g.135804767C>G | CA348595500 | LCT | c.4464G>C (p.Gln1488His) c.2760G>C (p.Gln920His) | |
2 | g.135804767C>T | CA429086842 | LCT | c.4464G>A (p.Gln1488=) c.2760G>A (p.Gln920=) | COSMIC |
2 | g.135804768T>A | CA348595502 | LCT | c.4463A>T (p.Gln1488Leu) c.2759A>T (p.Gln920Leu) | |
2 | g.135804768T>C | CA348595503 | LCT | c.4463A>G (p.Gln1488Arg) c.2759A>G (p.Gln920Arg) | |
2 | g.135804768T>G | CA348595506 | LCT | c.4463A>C (p.Gln1488Pro) c.2759A>C (p.Gln920Pro) | ClinVar dbSNP |
2 | g.135804769G>A | CA348595509 | LCT | c.4462C>T (p.Gln1488Ter) c.2758C>T (p.Gln920Ter) | COSMIC |
2 | g.135804769G>C | CA348595510 | LCT | c.4462C>G (p.Gln1488Glu) c.2758C>G (p.Gln920Glu) | |
2 | g.135804769G>T | CA348595513 | LCT | c.4462C>A (p.Gln1488Lys) c.2758C>A (p.Gln920Lys) | |
2 | g.135804770G>A | CA429086843 | LCT | c.4461C>T (p.Pro1487=) c.2757C>T (p.Pro919=) | |
2 | g.135804770G>C | CA429086844 | LCT | c.4461C>G (p.Pro1487=) c.2757C>G (p.Pro919=) | |
2 | g.135804770G>T | CA429086845 | LCT | c.4461C>A (p.Pro1487=) c.2757C>A (p.Pro919=) | |
2 | g.135804771G>A | CA1887852 | LCT | c.4460C>T (p.Pro1487Leu) c.2756C>T (p.Pro919Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135804771G>C | CA348595520 | LCT | c.4460C>G (p.Pro1487Arg) c.2756C>G (p.Pro919Arg) | |
2 | g.135804771G= | CA1290829313 | LCT | c.4460C= (p.Pro1487=) c.2756C= (p.Pro919=) | |
2 | g.135804771G>T | CA348595518 | LCT | c.4460C>A (p.Pro1487His) c.2756C>A (p.Pro919His) | |
2 | g.135804772G>A | CA348595522 | LCT | c.4459C>T (p.Pro1487Ser) c.2755C>T (p.Pro919Ser) | |
2 | g.135804772G>C | CA348595523 | LCT | c.4459C>G (p.Pro1487Ala) c.2755C>G (p.Pro919Ala) | |
2 | g.135804772G>T | CA348595529 | LCT | c.4459C>A (p.Pro1487Thr) c.2755C>A (p.Pro919Thr) | |
2 | g.135804773C>A | CA348595537 | LCT | c.4458G>T (p.Gln1486His) c.2754G>T (p.Gln918His) | |
2 | g.135804773C= | CA1290829314 | LCT | c.4458G= (p.Gln1486=) c.2754G= (p.Gln918=) | |
2 | g.135804773C>G | CA1887853 | LCT | c.4458G>C (p.Gln1486His) c.2754G>C (p.Gln918His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135804773C>T | CA429086846 | LCT | c.4458G>A (p.Gln1486=) c.2754G>A (p.Gln918=) | |
2 | g.135804774T>A | CA348595543 | LCT | c.4457A>T (p.Gln1486Leu) c.2753A>T (p.Gln918Leu) | |
2 | g.135804774T>C | CA348595545 | LCT | c.4457A>G (p.Gln1486Arg) c.2753A>G (p.Gln918Arg) | |
2 | g.135804774T>G | CA348595547 | LCT | c.4457A>C (p.Gln1486Pro) c.2753A>C (p.Gln918Pro) | |
2 | g.135804775G>A | CA348595551 | LCT | c.4456C>T (p.Gln1486Ter) c.2752C>T (p.Gln918Ter) | dbSNP gnomAD v4 |
2 | g.135804775G>C | CA348595554 | LCT | c.4456C>G (p.Gln1486Glu) c.2752C>G (p.Gln918Glu) | |
2 | g.135804775G= | CA1290829315 | LCT | c.4456C= (p.Gln1486=) c.2752C= (p.Gln918=) | |
2 | g.135804775G>T | CA348595557 | LCT | c.4456C>A (p.Gln1486Lys) c.2752C>A (p.Gln918Lys) | |
2 | g.135804776G>A | CA429086848 | LCT | c.4455C>T (p.Ile1485=) c.2751C>T (p.Ile917=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135804776G>C | CA348595560 | LCT | c.4455C>G (p.Ile1485Met) c.2751C>G (p.Ile917Met) | |
2 | g.135804776G= | CA1290829316 | LCT | c.4455C= (p.Ile1485=) c.2751C= (p.Ile917=) | |
2 | g.135804776G>T | CA429086847 | LCT | c.4455C>A (p.Ile1485=) c.2751C>A (p.Ile917=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.135804777A>C | CA348595569 | LCT | c.4454T>G (p.Ile1485Ser) c.2750T>G (p.Ile917Ser) | |
2 | g.135804777A>G | CA348595564 | LCT | c.4454T>C (p.Ile1485Thr) c.2750T>C (p.Ile917Thr) | |
2 | g.135804777A>T | CA348595567 | LCT | c.4454T>A (p.Ile1485Asn) c.2750T>A (p.Ile917Asn) | |
2 | g.135804778T>A | CA348595573 | LCT | c.4453A>T (p.Ile1485Phe) c.2749A>T (p.Ile917Phe) | |
2 | g.135804778T>C | CA348595575 | LCT | c.4453A>G (p.Ile1485Val) c.2749A>G (p.Ile917Val) | |
2 | g.135804778T>G | CA348595576 | LCT | c.4453A>C (p.Ile1485Leu) c.2749A>C (p.Ile917Leu) | |
2 | g.135804779G>A | CA429086849 | LCT | c.4452C>T (p.Ser1484=) c.2748C>T (p.Ser916=) | |
2 | g.135804779G>C | CA348595580 | LCT | c.4452C>G (p.Ser1484Arg) c.2748C>G (p.Ser916Arg) | |
2 | g.135804779G>T | CA348595582 | LCT | c.4452C>A (p.Ser1484Arg) c.2748C>A (p.Ser916Arg) | |
2 | g.135804780C>A | CA348595585 | LCT | c.4451G>T (p.Ser1484Ile) c.2747G>T (p.Ser916Ile) | |
2 | g.135804780C>G | CA348595588 | LCT | c.4451G>C (p.Ser1484Thr) c.2747G>C (p.Ser916Thr) | |
2 | g.135804780C>T | CA348595590 | LCT | c.4451G>A (p.Ser1484Asn) c.2747G>A (p.Ser916Asn) | |
2 | g.135804781T>A | CA348595593 | LCT | c.4450A>T (p.Ser1484Cys) c.2746A>T (p.Ser916Cys) | |
2 | g.135804781T>C | CA1887854 | LCT | c.4450A>G (p.Ser1484Gly) c.2746A>G (p.Ser916Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135804781T>G | CA348595597 | LCT | c.4450A>C (p.Ser1484Arg) c.2746A>C (p.Ser916Arg) | |
2 | g.135804781T= | CA1290829317 | LCT | c.4450A= (p.Ser1484=) c.2746A= (p.Ser916=) | |
2 | g.135804782G>A | CA429086852 | LCT | c.4449C>T (p.Ala1483=) c.2745C>T (p.Ala915=) | ClinVar dbSNP gnomAD v2 COSMIC |
2 | g.135804782G>C | CA429086850 | LCT | c.4449C>G (p.Ala1483=) c.2745C>G (p.Ala915=) | |
2 | g.135804782G= | CA1290829318 | LCT | c.4449C= (p.Ala1483=) c.2745C= (p.Ala915=) | |
2 | g.135804782G>T | CA429086851 | LCT | c.4449C>A (p.Ala1483=) c.2745C>A (p.Ala915=) | |
2 | g.135804783G>A | CA348595603 | LCT | c.4448C>T (p.Ala1483Val) c.2744C>T (p.Ala915Val) | gnomAD v4 |
2 | g.135804783G>C | CA348595604 | LCT | c.4448C>G (p.Ala1483Gly) c.2744C>G (p.Ala915Gly) | gnomAD v4 |
2 | g.135804783G>T | CA348595601 | LCT | c.4448C>A (p.Ala1483Asp) c.2744C>A (p.Ala915Asp) | |
2 | g.135804784C>A | CA1887855 | LCT | c.4447G>T (p.Ala1483Ser) c.2743G>T (p.Ala915Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135804784C= | CA1290829319 | LCT | c.4447G= (p.Ala1483=) c.2743G= (p.Ala915=) | |
2 | g.135804784C>G | CA348595606 | LCT | c.4447G>C (p.Ala1483Pro) c.2743G>C (p.Ala915Pro) | |
2 | g.135804784C>T | CA1887856 | LCT | c.4447G>A (p.Ala1483Thr) c.2743G>A (p.Ala915Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.135804785G>A | CA1887857 | LCT | c.4446C>T (p.Ala1482=) c.2742C>T (p.Ala914=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135804785G>C | CA429086853 | LCT | c.4446C>G (p.Ala1482=) c.2742C>G (p.Ala914=) | |
2 | g.135804785G= | CA1290829320 | LCT | c.4446C= (p.Ala1482=) c.2742C= (p.Ala914=) | |
2 | g.135804785G>T | CA1887858 | LCT | c.4446C>A (p.Ala1482=) c.2742C>A (p.Ala914=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135804786G>A | CA348595615 | LCT | c.4445C>T (p.Ala1482Val) c.2741C>T (p.Ala914Val) | |
2 | g.135804786G>C | CA348595617 | LCT | c.4445C>G (p.Ala1482Gly) c.2741C>G (p.Ala914Gly) | |
2 | g.135804786G>T | CA348595619 | LCT | c.4445C>A (p.Ala1482Asp) c.2741C>A (p.Ala914Asp) | |
2 | g.135804787C>A | CA348595623 | LCT | c.4444G>T (p.Ala1482Ser) c.2740G>T (p.Ala914Ser) | |
2 | g.135804787C= | CA1290829321 | LCT | c.4444G= (p.Ala1482=) c.2740G= (p.Ala914=) | |
2 | g.135804787C>G | CA348595625 | LCT | c.4444G>C (p.Ala1482Pro) c.2740G>C (p.Ala914Pro) | dbSNP |
2 | g.135804787C>T | CA348595628 | LCT | c.4444G>A (p.Ala1482Thr) c.2740G>A (p.Ala914Thr) | |
2 | g.135804788C>A | CA1887859 | LCT | c.4443G>T (p.Leu1481=) c.2739G>T (p.Leu913=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.135804788C= | CA1290829322 | LCT | c.4443G= (p.Leu1481=) c.2739G= (p.Leu913=) | |
2 | g.135804788C>G | CA429086854 | LCT | c.4443G>C (p.Leu1481=) c.2739G>C (p.Leu913=) | |
2 | g.135804788C>T | CA429086855 | LCT | c.4443G>A (p.Leu1481=) c.2739G>A (p.Leu913=) | |
2 | g.135804789A>C | CA348595640 | LCT | c.4442T>G (p.Leu1481Arg) c.2738T>G (p.Leu913Arg) | |
2 | g.135804789A>G | CA348595638 | LCT | c.4442T>C (p.Leu1481Pro) c.2738T>C (p.Leu913Pro) | |
2 | g.135804789A>T | CA348595635 | LCT | c.4442T>A (p.Leu1481Gln) c.2738T>A (p.Leu913Gln) | |
2 | g.135804790G>A | CA429086856 | LCT | c.4441C>T (p.Leu1481=) c.2737C>T (p.Leu913=) | |
2 | g.135804790G>C | CA348595642 | LCT | c.4441C>G (p.Leu1481Val) c.2737C>G (p.Leu913Val) | gnomAD v4 |
2 | g.135804790G>T | CA348595643 | LCT | c.4441C>A (p.Leu1481Met) c.2737C>A (p.Leu913Met) | |
2 | g.135804791C>A | CA429086859 | LCT | c.4440G>T (p.Leu1480=) c.2736G>T (p.Leu912=) | |
2 | g.135804791C>G | CA429086858 | LCT | c.4440G>C (p.Leu1480=) c.2736G>C (p.Leu912=) | |
2 | g.135804791C>T | CA429086857 | LCT | c.4440G>A (p.Leu1480=) c.2736G>A (p.Leu912=) | |
2 | g.135804792A= | CA1290829323 | LCT | c.4439T= (p.Leu1480=) c.2735T= (p.Leu912=) | |
2 | g.135804792A>C | CA348595645 | LCT | c.4439T>G (p.Leu1480Arg) c.2735T>G (p.Leu912Arg) | dbSNP |
2 | g.135804792A>G | CA348595647 | LCT | c.4439T>C (p.Leu1480Pro) c.2735T>C (p.Leu912Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135804792A>T | CA348595649 | LCT | c.4439T>A (p.Leu1480Gln) c.2735T>A (p.Leu912Gln) | |
2 | g.135804793G>A | CA429086860 | LCT | c.4438C>T (p.Leu1480=) c.2734C>T (p.Leu912=) | |
2 | g.135804793G>C | CA348595652 | LCT | c.4438C>G (p.Leu1480Val) c.2734C>G (p.Leu912Val) | |
2 | g.135804793G= | CA1290829324 | LCT | c.4438C= (p.Leu1480=) c.2734C= (p.Leu912=) | |
2 | g.135804793G>T | CA348595656 | LCT | c.4438C>A (p.Leu1480Met) c.2734C>A (p.Leu912Met) | dbSNP gnomAD v2 |
2 | g.135804794T>A | CA429086861 | LCT | c.4437A>T (p.Thr1479=) c.2733A>T (p.Thr911=) | |
2 | g.135804794T>C | CA429086862 | LCT | c.4437A>G (p.Thr1479=) c.2733A>G (p.Thr911=) | |
2 | g.135804794T>G | CA429086863 | LCT | c.4437A>C (p.Thr1479=) c.2733A>C (p.Thr911=) | |
2 | g.135804795G>A | CA348595660 | LCT | c.4436C>T (p.Thr1479Ile) c.2732C>T (p.Thr911Ile) | |
2 | g.135804795G>C | CA348595663 | LCT | c.4436C>G (p.Thr1479Arg) c.2732C>G (p.Thr911Arg) | |
2 | g.135804795G>T | CA348595666 | LCT | c.4436C>A (p.Thr1479Lys) c.2732C>A (p.Thr911Lys) | |
2 | g.135804796T>A | CA348595669 | LCT | c.4435A>T (p.Thr1479Ser) c.2731A>T (p.Thr911Ser) | |
2 | g.135804796T>C | CA348595671 | LCT | c.4435A>G (p.Thr1479Ala) c.2731A>G (p.Thr911Ala) | |
2 | g.135804796T>G | CA348595673 | LCT | c.4435A>C (p.Thr1479Pro) c.2731A>C (p.Thr911Pro) | |
2 | g.135804797A= | CA1290829325 | LCT | c.4434T= (p.Asp1478=) c.2730T= (p.Asp910=) | |
2 | g.135804797A>C | CA348595678 | LCT | c.4434T>G (p.Asp1478Glu) c.2730T>G (p.Asp910Glu) | |
2 | g.135804797A>G | CA1887860 | LCT | c.4434T>C (p.Asp1478=) c.2730T>C (p.Asp910=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135804797A>T | CA348595675 | LCT | c.4434T>A (p.Asp1478Glu) c.2730T>A (p.Asp910Glu) | |
2 | g.135804798T>A | CA348595681 | LCT | c.4433A>T (p.Asp1478Val) c.2729A>T (p.Asp910Val) | |
2 | g.135804798T>C | CA348595683 | LCT | c.4433A>G (p.Asp1478Gly) c.2729A>G (p.Asp910Gly) | |
2 | g.135804798T>G | CA348595686 | LCT | c.4433A>C (p.Asp1478Ala) c.2729A>C (p.Asp910Ala) | |
2 | g.135804799C>A | CA348595689 | LCT | c.4432G>T (p.Asp1478Tyr) c.2728G>T (p.Asp910Tyr) | dbSNP gnomAD v4 |
2 | g.135804799C= | CA1290829326 | LCT | c.4432G= (p.Asp1478=) c.2728G= (p.Asp910=) | |
2 | g.135804799C>G | CA348595691 | LCT | c.4432G>C (p.Asp1478His) c.2728G>C (p.Asp910His) | |
2 | g.135804799C>T | CA348595692 | LCT | c.4432G>A (p.Asp1478Asn) c.2728G>A (p.Asp910Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.135804800G>A | CA1887861 | LCT | c.4431C>T (p.Ile1477=) c.2727C>T (p.Ile909=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135804800G>C | CA348595694 | LCT | c.4431C>G (p.Ile1477Met) c.2727C>G (p.Ile909Met) | gnomAD v4 |
2 | g.135804800G= | CA1290829327 | LCT | c.4431C= (p.Ile1477=) c.2727C= (p.Ile909=) | |
2 | g.135804800G>T | CA429086864 | LCT | c.4431C>A (p.Ile1477=) c.2727C>A (p.Ile909=) | |
2 | g.135804801A>C | CA348595699 | LCT | c.4430T>G (p.Ile1477Ser) c.2726T>G (p.Ile909Ser) | |
2 | g.135804801A>G | CA348595700 | LCT | c.4430T>C (p.Ile1477Thr) c.2726T>C (p.Ile909Thr) | |
2 | g.135804801A>T | CA348595703 | LCT | c.4430T>A (p.Ile1477Asn) c.2726T>A (p.Ile909Asn) | |
2 | g.135804802T>A | CA348595706 | LCT | c.4429A>T (p.Ile1477Phe) c.2725A>T (p.Ile909Phe) | |
2 | g.135804802T>C | CA348595709 | LCT | c.4429A>G (p.Ile1477Val) c.2725A>G (p.Ile909Val) | gnomAD v4 |
2 | g.135804802T>G | CA348595711 | LCT | c.4429A>C (p.Ile1477Leu) c.2725A>C (p.Ile909Leu) | gnomAD v4 |
2 | g.135804803G>A | CA429202968 | LCT | c.4428C>T (p.Leu1476=) c.2724C>T (p.Leu908=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.135804803G>C | CA429202969 | LCT | c.4428C>G (p.Leu1476=) c.2724C>G (p.Leu908=) | |
2 | g.135804803G= | CA1290829328 | LCT | c.4428C= (p.Leu1476=) c.2724C= (p.Leu908=) | |
2 | g.135804803G>T | CA429202971 | LCT | c.4428C>A (p.Leu1476=) c.2724C>A (p.Leu908=) | |
2 | g.135804804A= | CA1290829329 | LCT | c.4427T= (p.Leu1476=) c.2723T= (p.Leu908=) | |
2 | g.135804804A>C | CA348595713 | LCT | c.4427T>G (p.Leu1476Arg) c.2723T>G (p.Leu908Arg) | |
2 | g.135804804A>G | CA1887862 | LCT | c.4427T>C (p.Leu1476Pro) c.2723T>C (p.Leu908Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135804804A>T | CA348595715 | LCT | c.4427T>A (p.Leu1476His) c.2723T>A (p.Leu908His) | |
2 | g.135804805G>A | CA348595720 | LCT | c.4426C>T (p.Leu1476Phe) c.2722C>T (p.Leu908Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135804805G>C | CA56609684 | LCT | c.4426C>G (p.Leu1476Val) c.2722C>G (p.Leu908Val) | dbSNP |
2 | g.135804805G= | CA1290829330 | LCT | c.4426C= (p.Leu1476=) c.2722C= (p.Leu908=) | |
2 | g.135804805G>T | CA348595724 | LCT | c.4426C>A (p.Leu1476Ile) c.2722C>A (p.Leu908Ile) | |
2 | g.135804806C>A | CA348595725 | LCT | c.4425G>T (p.Arg1475Ser) c.2721G>T (p.Arg907Ser) | ClinVar |
2 | g.135804806C>G | CA348595726 | LCT | c.4425G>C (p.Arg1475Ser) c.2721G>C (p.Arg907Ser) | |
2 | g.135804806C>T | CA429202976 | LCT | c.4425G>A (p.Arg1475=) c.2721G>A (p.Arg907=) | |
2 | g.135804807C>A | CA348595729 | LCT | c.4424G>T (p.Arg1475Met) c.2720G>T (p.Arg907Met) | |
2 | g.135804807C= | CA1290829331 | LCT | c.4424G= (p.Arg1475=) c.2720G= (p.Arg907=) | |
2 | g.135804807C>G | CA348595731 | LCT | c.4424G>C (p.Arg1475Thr) c.2720G>C (p.Arg907Thr) | |
2 | g.135804807C>T | CA348595734 | LCT | c.4424G>A (p.Arg1475Lys) c.2720G>A (p.Arg907Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135804808T>A | CA348595736 | LCT | c.4423A>T (p.Arg1475Trp) c.2719A>T (p.Arg907Trp) | |
2 | g.135804808T>C | CA348595739 | LCT | c.4423A>G (p.Arg1475Gly) c.2719A>G (p.Arg907Gly) | |
2 | g.135804808T>G | CA429202980 | LCT | c.4423A>C (p.Arg1475=) c.2719A>C (p.Arg907=) | |
2 | g.135804809C>A | CA429202981 | LCT | c.4422G>T (p.Val1474=) c.2718G>T (p.Val906=) | |
2 | g.135804809C= | CA1290829332 | LCT | c.4422G= (p.Val1474=) c.2718G= (p.Val906=) | |
2 | g.135804809C>G | CA429202982 | LCT | c.4422G>C (p.Val1474=) c.2718G>C (p.Val906=) | |
2 | g.135804809C>T | CA429202983 | LCT | c.4422G>A (p.Val1474=) c.2718G>A (p.Val906=) | dbSNP gnomAD v4 |
2 | g.135804810A= | CA1290829333 | LCT | c.4421T= (p.Val1474=) c.2717T= (p.Val906=) | |
2 | g.135804810A>C | CA348595742 | LCT | c.4421T>G (p.Val1474Gly) c.2717T>G (p.Val906Gly) | |
2 | g.135804810A>G | CA348595745 | LCT | c.4421T>C (p.Val1474Ala) c.2717T>C (p.Val906Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.135804810A>T | CA348595747 | LCT | c.4421T>A (p.Val1474Glu) c.2717T>A (p.Val906Glu) | gnomAD v4 |
2 | g.135804811C>A | CA348595751 | LCT | c.4420G>T (p.Val1474Leu) c.2716G>T (p.Val906Leu) | |
2 | g.135804811C= | CA1290829334 | LCT | c.4420G= (p.Val1474=) c.2716G= (p.Val906=) | |
2 | g.135804811C>G | CA348595754 | LCT | c.4420G>C (p.Val1474Leu) c.2716G>C (p.Val906Leu) | |
2 | g.135804811C>T | CA1887863 | LCT | c.4420G>A (p.Val1474Met) c.2716G>A (p.Val906Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135804812G>A | CA1887864 | LCT | c.4419C>T (p.Tyr1473=) c.2715C>T (p.Tyr905=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.135804812G>C | CA144315 | LCT | c.4419C>G (p.Tyr1473Ter) c.2715C>G (p.Tyr905Ter) | ClinVar dbSNP |
2 | g.135804812G= | CA1290829335 | LCT | c.4419C= (p.Tyr1473=) c.2715C= (p.Tyr905=) | |
2 | g.135804812G>T | CA348595759 | LCT | c.4419C>A (p.Tyr1473Ter) c.2715C>A (p.Tyr905Ter) |