Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.135800574G>A | CA2700695087 | LCT | c.4866+33C>T (n.4866+33C>T) c.2960-2436C>T (n.2960-2436C>T) | dbSNP |
2 | g.135800574G>T | CA2661274822 | LCT | c.4866+33C>A (n.4866+33C>A) c.2960-2436C>A (n.2960-2436C>A) | gnomAD v4 |
2 | g.135800575A>T | CA2661274823 | LCT | c.4866+32T>A (n.4866+32T>A) c.2960-2437T>A (n.2960-2437T>A) | gnomAD v4 |
2 | g.135800576G>T | CA2661274824 | LCT | c.4866+31C>A (n.4866+31C>A) c.2960-2438C>A (n.2960-2438C>A) | gnomAD v4 |
2 | g.135800579del | CA2661274825 | LCT | c.4866+29del (n.4866+29del) c.2960-2440del (n.2960-2440del) | gnomAD v4 |
2 | g.135800579A= | CA1290827582 | LCT | c.4866+28T= (n.4866+28T=) c.2960-2441T= (n.2960-2441T=) | |
2 | g.135800579A>G | CA1036797252 | LCT | c.4866+28T>C (n.4866+28T>C) c.2960-2441T>C (n.2960-2441T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135800580G>A | CA2661274826 | LCT | c.4866+27C>T (n.4866+27C>T) c.2960-2442C>T (n.2960-2442C>T) | gnomAD v4 |
2 | g.135800580G>C | CA2661274827 | LCT | c.4866+27C>G (n.4866+27C>G) c.2960-2442C>G (n.2960-2442C>G) | gnomAD v4 |
2 | g.135800580G>T | CA2661274828 | LCT | c.4866+27C>A (n.4866+27C>A) c.2960-2442C>A (n.2960-2442C>A) | gnomAD v4 |
2 | g.135800582A= | CA1290827583 | LCT | c.4866+25T= (n.4866+25T=) c.2960-2444T= (n.2960-2444T=) | |
2 | g.135800582A>G | CA757424739 | LCT | c.4866+25T>C (n.4866+25T>C) c.2960-2444T>C (n.2960-2444T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135800583C>G | CA2577107881 | LCT | c.4866+24G>C (n.4866+24G>C) c.2960-2445G>C (n.2960-2445G>C) | |
2 | g.135800583C>T | CA2661274829 | LCT | c.4866+24G>A (n.4866+24G>A) c.2960-2445G>A (n.2960-2445G>A) | gnomAD v4 |
2 | g.135800584A= | CA1290827584 | LCT | c.4866+23T= (n.4866+23T=) c.2960-2446T= (n.2960-2446T=) | |
2 | g.135800584A>C | CA536394637 | LCT | c.4866+23T>G (n.4866+23T>G) c.2960-2446T>G (n.2960-2446T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135800585A>G | CA2661274830 | LCT | c.4866+22T>C (n.4866+22T>C) c.2960-2447T>C (n.2960-2447T>C) | gnomAD v4 |
2 | g.135800586G>A | CA536394638 | LCT | c.4866+21C>T (n.4866+21C>T) c.2960-2448C>T (n.2960-2448C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135800586G= | CA1290827585 | LCT | c.4866+21C= (n.4866+21C=) c.2960-2448C= (n.2960-2448C=) | |
2 | g.135800586G>T | CA1887762 | LCT | c.4866+21C>A (n.4866+21C>A) c.2960-2448C>A (n.2960-2448C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135800587C>A | CA647200454 | LCT | c.4866+20G>T (n.4866+20G>T) c.2960-2449G>T (n.2960-2449G>T) | COSMIC |
2 | g.135800587C= | CA1290827586 | LCT | c.4866+20G= (n.4866+20G=) c.2960-2449G= (n.2960-2449G=) | |
2 | g.135800587C>G | CA2581837672 | LCT | c.4866+20G>C (n.4866+20G>C) c.2960-2449G>C (n.2960-2449G>C) | |
2 | g.135800587C>T | CA1887763 | LCT | c.4866+20G>A (n.4866+20G>A) c.2960-2449G>A (n.2960-2449G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135800588G>A | CA1887764 | LCT | c.4866+19C>T (n.4866+19C>T) c.2960-2450C>T (n.2960-2450C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135800588G= | CA1290827587 | LCT | c.4866+19C= (n.4866+19C=) c.2960-2450C= (n.2960-2450C=) | |
2 | g.135800588G>T | CA536394639 | LCT | c.4866+19C>A (n.4866+19C>A) c.2960-2450C>A (n.2960-2450C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135800589C>T | CA2661274831 | LCT | c.4866+18G>A (n.4866+18G>A) c.2960-2451G>A (n.2960-2451G>A) | gnomAD v4 |
2 | g.135800592A= | CA1290827588 | LCT | c.4866+15T= (n.4866+15T=) c.2960-2454T= (n.2960-2454T=) | |
2 | g.135800592A>G | CA536394640 | LCT | c.4866+15T>C (n.4866+15T>C) c.2960-2454T>C (n.2960-2454T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135800593G>A | CA1887765 | LCT | c.4866+14C>T (n.4866+14C>T) c.2960-2455C>T (n.2960-2455C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135800593G= | CA1290827589 | LCT | c.4866+14C= (n.4866+14C=) c.2960-2455C= (n.2960-2455C=) | |
2 | g.135800593G>T | CA2661274832 | LCT | c.4866+14C>A (n.4866+14C>A) c.2960-2455C>A (n.2960-2455C>A) | gnomAD v4 |
2 | g.135800595G>A | CA1887766 | LCT | c.4866+12C>T (n.4866+12C>T) c.2960-2457C>T (n.2960-2457C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135800595G= | CA1290827590 | LCT | c.4866+12C= (n.4866+12C=) c.2960-2457C= (n.2960-2457C=) | |
2 | g.135800595G>T | CA1290827591 | LCT | c.4866+12C>A (n.4866+12C>A) c.2960-2457C>A (n.2960-2457C>A) | dbSNP |
2 | g.135800597A= | CA1290827592 | LCT | c.4866+10T= (n.4866+10T=) c.2960-2459T= (n.2960-2459T=) | |
2 | g.135800597A>G | CA1036797259 | LCT | c.4866+10T>C (n.4866+10T>C) c.2960-2459T>C (n.2960-2459T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135800597A>T | CA2661274834 | LCT | c.4866+10T>A (n.4866+10T>A) c.2960-2459T>A (n.2960-2459T>A) | gnomAD v4 |
2 | g.135800601del | CA2661274833 | LCT | c.4866+10del (n.4866+10del) c.2960-2459del (n.2960-2459del) | gnomAD v4 |
2 | g.135800598A>G | CA2661274835 | LCT | c.4866+9T>C (n.4866+9T>C) c.2960-2460T>C (n.2960-2460T>C) | gnomAD v4 |
2 | g.135800605A= | CA1290827593 | LCT | c.4866+2T= (n.4866+2T=) c.2960-2467T= (n.2960-2467T=) | |
2 | g.135800605A>C | CA348592274 | LCT | c.4866+2T>G (n.4866+2T>G) c.2960-2467T>G (n.2960-2467T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.135800605A>G | CA348592275 | LCT | c.4866+2T>C (n.4866+2T>C) c.2960-2467T>C (n.2960-2467T>C) | gnomAD v4 |
2 | g.135800605A>T | CA348592276 | LCT | c.4866+2T>A (n.4866+2T>A) c.2960-2467T>A (n.2960-2467T>A) | |
2 | g.135800606C>A | CA348592277 | LCT | c.4866+1G>T (n.4866+1G>T) c.2960-2468G>T (n.2960-2468G>T) | |
2 | g.135800606C>G | CA348592279 | LCT | c.4866+1G>C (n.4866+1G>C) c.2960-2468G>C (n.2960-2468G>C) | gnomAD v4 |
2 | g.135800606C>T | CA348592278 | LCT | c.4866+1G>A (n.4866+1G>A) c.2960-2468G>A (n.2960-2468G>A) | |
2 | g.135800607C>A | CA1887767 | LCT | c.4866G>T (p.Gln1622His) c.2960-2469G>T (n.2960-2469G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135800607C= | CA1290827594 | LCT | c.4866G= (p.Gln1622=) c.2960-2469G= (n.2960-2469G=) | |
2 | g.135800607C>G | CA348592280 | LCT | c.4866G>C (p.Gln1622His) c.2960-2469G>C (n.2960-2469G>C) | |
2 | g.135800607C>T | CA429086289 | LCT | c.4866G>A (p.Gln1622=) c.2960-2469G>A (n.2960-2469G>A) | |
2 | g.135800608T>A | CA348592281 | LCT | c.4865A>T (p.Gln1622Leu) c.2960-2470A>T (n.2960-2470A>T) | |
2 | g.135800608T>C | CA348592282 | LCT | c.4865A>G (p.Gln1622Arg) c.2960-2470A>G (n.2960-2470A>G) | |
2 | g.135800608T>G | CA348592283 | LCT | c.4865A>C (p.Gln1622Pro) c.2960-2470A>C (n.2960-2470A>C) | |
2 | g.135800609G>A | CA348592284 | LCT | c.4864C>T (p.Gln1622Ter) c.2960-2471C>T (n.2960-2471C>T) | |
2 | g.135800609G>C | CA348592285 | LCT | c.4864C>G (p.Gln1622Glu) c.2960-2471C>G (n.2960-2471C>G) | |
2 | g.135800609G>T | CA348592286 | LCT | c.4864C>A (p.Gln1622Lys) c.2960-2471C>A (n.2960-2471C>A) | |
2 | g.135800610A>C | CA429086291 | LCT | c.4863T>G (p.Val1621=) c.2960-2472T>G (n.2960-2472T>G) | |
2 | g.135800610A>G | CA429086292 | LCT | c.4863T>C (p.Val1621=) c.2960-2472T>C (n.2960-2472T>C) | gnomAD v4 |
2 | g.135800610A>T | CA429086293 | LCT | c.4863T>A (p.Val1621=) c.2960-2472T>A (n.2960-2472T>A) | |
2 | g.135800611A>C | CA348592289 | LCT | c.4862T>G (p.Val1621Gly) c.2960-2473T>G (n.2960-2473T>G) | |
2 | g.135800611A>G | CA348592288 | LCT | c.4862T>C (p.Val1621Ala) c.2960-2473T>C (n.2960-2473T>C) | |
2 | g.135800611A>T | CA348592287 | LCT | c.4862T>A (p.Val1621Asp) c.2960-2473T>A (n.2960-2473T>A) | |
2 | g.135800612C>A | CA348592290 | LCT | c.4861G>T (p.Val1621Phe) c.2960-2474G>T (n.2960-2474G>T) | |
2 | g.135800612C>G | CA348592291 | LCT | c.4861G>C (p.Val1621Leu) c.2960-2474G>C (n.2960-2474G>C) | |
2 | g.135800612C>T | CA348592292 | LCT | c.4861G>A (p.Val1621Ile) c.2960-2474G>A (n.2960-2474G>A) | |
2 | g.135800613A= | CA1290827595 | LCT | c.4860T= (p.Tyr1620=) c.2960-2475T= (n.2960-2475T=) | |
2 | g.135800613A>C | CA348592293 | LCT | c.4860T>G (p.Tyr1620Ter) c.2960-2475T>G (n.2960-2475T>G) | |
2 | g.135800613A>G | CA1887768 | LCT | c.4860T>C (p.Tyr1620=) c.2960-2475T>C (n.2960-2475T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135800613A>T | CA348592296 | LCT | c.4860T>A (p.Tyr1620Ter) c.2960-2475T>A (n.2960-2475T>A) | |
2 | g.135800614T>A | CA348592304 | LCT | c.4859A>T (p.Tyr1620Phe) c.2960-2476A>T (n.2960-2476A>T) | |
2 | g.135800614T>C | CA348592308 | LCT | c.4859A>G (p.Tyr1620Cys) c.2960-2476A>G (n.2960-2476A>G) | |
2 | g.135800614T>G | CA348592306 | LCT | c.4859A>C (p.Tyr1620Ser) c.2960-2476A>C (n.2960-2476A>C) | |
2 | g.135800615A>C | CA348592309 | LCT | c.4858T>G (p.Tyr1620Asp) c.2960-2477T>G (n.2960-2477T>G) | |
2 | g.135800615A>G | CA348592310 | LCT | c.4858T>C (p.Tyr1620His) c.2960-2477T>C (n.2960-2477T>C) | ClinVar dbSNP |
2 | g.135800615A>T | CA348592312 | LCT | c.4858T>A (p.Tyr1620Asn) c.2960-2477T>A (n.2960-2477T>A) | |
2 | g.135800616T>A | CA348592315 | LCT | c.4857A>T (p.Arg1619Ser) c.2960-2478A>T (n.2960-2478A>T) | |
2 | g.135800616T>C | CA429086297 | LCT | c.4857A>G (p.Arg1619=) c.2960-2478A>G (n.2960-2478A>G) | |
2 | g.135800616T>G | CA348592316 | LCT | c.4857A>C (p.Arg1619Ser) c.2960-2478A>C (n.2960-2478A>C) | |
2 | g.135800617C>A | CA348592318 | LCT | c.4856G>T (p.Arg1619Ile) c.2960-2479G>T (n.2960-2479G>T) | COSMIC |
2 | g.135800617C>G | CA348592320 | LCT | c.4856G>C (p.Arg1619Thr) c.2960-2479G>C (n.2960-2479G>C) | |
2 | g.135800617C>T | CA348592321 | LCT | c.4856G>A (p.Arg1619Lys) c.2960-2479G>A (n.2960-2479G>A) | gnomAD v4 |
2 | g.135800618T>A | CA348592324 | LCT | c.4855A>T (p.Arg1619Ter) c.2960-2480A>T (n.2960-2480A>T) | |
2 | g.135800618T>C | CA348592326 | LCT | c.4855A>G (p.Arg1619Gly) c.2960-2480A>G (n.2960-2480A>G) | |
2 | g.135800618T>G | CA429086298 | LCT | c.4855A>C (p.Arg1619=) c.2960-2480A>C (n.2960-2480A>C) | |
2 | g.135800619C>A | CA348592329 | LCT | c.4854G>T (p.Arg1618Ser) c.2960-2481G>T (n.2960-2481G>T) | |
2 | g.135800619C>G | CA348592332 | LCT | c.4854G>C (p.Arg1618Ser) c.2960-2481G>C (n.2960-2481G>C) | |
2 | g.135800619C>T | CA429086299 | LCT | c.4854G>A (p.Arg1618=) c.2960-2481G>A (n.2960-2481G>A) | COSMIC |
2 | g.135800620C>A | CA348592336 | LCT | c.4853G>T (p.Arg1618Met) c.2960-2482G>T (n.2960-2482G>T) | |
2 | g.135800620C>G | CA348592343 | LCT | c.4853G>C (p.Arg1618Thr) c.2960-2482G>C (n.2960-2482G>C) | |
2 | g.135800620C>T | CA348592339 | LCT | c.4853G>A (p.Arg1618Lys) c.2960-2482G>A (n.2960-2482G>A) | |
2 | g.135800621T>A | CA348592348 | LCT | c.4852A>T (p.Arg1618Trp) c.2960-2483A>T (n.2960-2483A>T) | |
2 | g.135800621T>C | CA348592349 | LCT | c.4852A>G (p.Arg1618Gly) c.2960-2483A>G (n.2960-2483A>G) | |
2 | g.135800621T>G | CA429086301 | LCT | c.4852A>C (p.Arg1618=) c.2960-2483A>C (n.2960-2483A>C) | |
2 | g.135800622G>A | CA429086302 | LCT | c.4851C>T (p.Ala1617=) c.2960-2484C>T (n.2960-2484C>T) | gnomAD v4 |
2 | g.135800622G>C | CA429086303 | LCT | c.4851C>G (p.Ala1617=) c.2960-2484C>G (n.2960-2484C>G) | |
2 | g.135800622G>T | CA429086304 | LCT | c.4851C>A (p.Ala1617=) c.2960-2484C>A (n.2960-2484C>A) | |
2 | g.135800623G>A | CA348592352 | LCT | c.4850C>T (p.Ala1617Val) c.2960-2485C>T (n.2960-2485C>T) | ClinVar gnomAD v4 |
2 | g.135800623G>C | CA348592356 | LCT | c.4850C>G (p.Ala1617Gly) c.2960-2485C>G (n.2960-2485C>G) | |
2 | g.135800623G>T | CA348592359 | LCT | c.4850C>A (p.Ala1617Asp) c.2960-2485C>A (n.2960-2485C>A) | gnomAD v4 |
2 | g.135800624C>A | CA348592363 | LCT | c.4849G>T (p.Ala1617Ser) c.2960-2486G>T (n.2960-2486G>T) | |
2 | g.135800624C>G | CA348592366 | LCT | c.4849G>C (p.Ala1617Pro) c.2960-2486G>C (n.2960-2486G>C) | |
2 | g.135800624C>T | CA348592370 | LCT | c.4849G>A (p.Ala1617Thr) c.2960-2486G>A (n.2960-2486G>A) | |
2 | g.135800625T>A | CA429086305 | LCT | c.4848A>T (p.Ala1616=) c.2960-2487A>T (n.2960-2487A>T) | |
2 | g.135800625T>C | CA429086306 | LCT | c.4848A>G (p.Ala1616=) c.2960-2487A>G (n.2960-2487A>G) | |
2 | g.135800625T>G | CA429086307 | LCT | c.4848A>C (p.Ala1616=) c.2960-2487A>C (n.2960-2487A>C) | |
2 | g.135800626G>A | CA1887769 | LCT | c.4847C>T (p.Ala1616Val) c.2960-2488C>T (n.2960-2488C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135800626G>C | CA348592377 | LCT | c.4847C>G (p.Ala1616Gly) c.2960-2488C>G (n.2960-2488C>G) | |
2 | g.135800626G= | CA1290827596 | LCT | c.4847C= (p.Ala1616=) c.2960-2488C= (n.2960-2488C=) | |
2 | g.135800626G>T | CA348592381 | LCT | c.4847C>A (p.Ala1616Glu) c.2960-2488C>A (n.2960-2488C>A) | |
2 | g.135800627C>A | CA348592385 | LCT | c.4846G>T (p.Ala1616Ser) c.2960-2489G>T (n.2960-2489G>T) | |
2 | g.135800627C= | CA1290827597 | LCT | c.4846G= (p.Ala1616=) c.2960-2489G= (n.2960-2489G=) | |
2 | g.135800627C>G | CA348592389 | LCT | c.4846G>C (p.Ala1616Pro) c.2960-2489G>C (n.2960-2489G>C) | |
2 | g.135800627C>T | CA1887770 | LCT | c.4846G>A (p.Ala1616Thr) c.2960-2489G>A (n.2960-2489G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135800628C>A | CA348592393 | LCT | c.4845G>T (p.Glu1615Asp) c.2960-2490G>T (n.2960-2490G>T) | |
2 | g.135800628C= | CA1290827598 | LCT | c.4845G= (p.Glu1615=) c.2960-2490G= (n.2960-2490G=) | |
2 | g.135800628C>G | CA348592396 | LCT | c.4845G>C (p.Glu1615Asp) c.2960-2490G>C (n.2960-2490G>C) | |
2 | g.135800628C>T | CA429086310 | LCT | c.4845G>A (p.Glu1615=) c.2960-2490G>A (n.2960-2490G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135800629T>A | CA348592400 | LCT | c.4844A>T (p.Glu1615Val) c.2960-2491A>T (n.2960-2491A>T) | |
2 | g.135800629T>C | CA348592405 | LCT | c.4844A>G (p.Glu1615Gly) c.2960-2491A>G (n.2960-2491A>G) | COSMIC |
2 | g.135800629T>G | CA348592407 | LCT | c.4844A>C (p.Glu1615Ala) c.2960-2491A>C (n.2960-2491A>C) | |
2 | g.135800630C>A | CA348592412 | LCT | c.4843G>T (p.Glu1615Ter) c.2960-2492G>T (n.2960-2492G>T) | |
2 | g.135800630C>G | CA348592416 | LCT | c.4843G>C (p.Glu1615Gln) c.2960-2492G>C (n.2960-2492G>C) | |
2 | g.135800630C>T | CA348592419 | LCT | c.4843G>A (p.Glu1615Lys) c.2960-2492G>A (n.2960-2492G>A) | |
2 | g.135800631C>A | CA429086317 | LCT | c.4842G>T (p.Val1614=) c.2960-2493G>T (n.2960-2493G>T) | |
2 | g.135800631C>G | CA429086315 | LCT | c.4842G>C (p.Val1614=) c.2960-2493G>C (n.2960-2493G>C) | |
2 | g.135800631C>T | CA429086313 | LCT | c.4842G>A (p.Val1614=) c.2960-2493G>A (n.2960-2493G>A) | |
2 | g.135800632A= | CA1290827599 | LCT | c.4841T= (p.Val1614=) c.2960-2494T= (n.2960-2494T=) | |
2 | g.135800632A>C | CA348592424 | LCT | c.4841T>G (p.Val1614Gly) c.2960-2494T>G (n.2960-2494T>G) | |
2 | g.135800632A>G | CA56606885 | LCT | c.4841T>C (p.Val1614Ala) c.2960-2494T>C (n.2960-2494T>C) | dbSNP |
2 | g.135800632A>T | CA348592431 | LCT | c.4841T>A (p.Val1614Glu) c.2960-2494T>A (n.2960-2494T>A) | |
2 | g.135800633C>A | CA348592436 | LCT | c.4840G>T (p.Val1614Leu) c.2960-2495G>T (n.2960-2495G>T) | |
2 | g.135800633C>G | CA348592439 | LCT | c.4840G>C (p.Val1614Leu) c.2960-2495G>C (n.2960-2495G>C) | |
2 | g.135800633C>T | CA348592444 | LCT | c.4840G>A (p.Val1614Met) c.2960-2495G>A (n.2960-2495G>A) | |
2 | g.135800634A>C | CA348592447 | LCT | c.4839T>G (p.Asp1613Glu) c.2960-2496T>G (n.2960-2496T>G) | |
2 | g.135800634A>G | CA429086320 | LCT | c.4839T>C (p.Asp1613=) c.2960-2496T>C (n.2960-2496T>C) | |
2 | g.135800634A>T | CA348592449 | LCT | c.4839T>A (p.Asp1613Glu) c.2960-2496T>A (n.2960-2496T>A) | |
2 | g.135800635T>A | CA348592451 | LCT | c.4838A>T (p.Asp1613Val) c.2960-2497A>T (n.2960-2497A>T) | |
2 | g.135800635T>C | CA348592453 | LCT | c.4838A>G (p.Asp1613Gly) c.2960-2497A>G (n.2960-2497A>G) | |
2 | g.135800635T>G | CA348592456 | LCT | c.4838A>C (p.Asp1613Ala) c.2960-2497A>C (n.2960-2497A>C) | |
2 | g.135800636C>A | CA348592457 | LCT | c.4837G>T (p.Asp1613Tyr) c.2960-2498G>T (n.2960-2498G>T) | |
2 | g.135800636C>G | CA348592458 | LCT | c.4837G>C (p.Asp1613His) c.2960-2498G>C (n.2960-2498G>C) | |
2 | g.135800636C>T | CA348592459 | LCT | c.4837G>A (p.Asp1613Asn) c.2960-2498G>A (n.2960-2498G>A) | COSMIC |
2 | g.135800637C>A | CA348592461 | LCT | c.4836G>T (p.Glu1612Asp) c.2960-2499G>T (n.2960-2499G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135800637C= | CA1290827600 | LCT | c.4836G= (p.Glu1612=) c.2960-2499G= (n.2960-2499G=) | |
2 | g.135800637C>G | CA348592470 | LCT | c.4836G>C (p.Glu1612Asp) c.2960-2499G>C (n.2960-2499G>C) | |
2 | g.135800637C>T | CA429086327 | LCT | c.4836G>A (p.Glu1612=) c.2960-2499G>A (n.2960-2499G>A) | |
2 | g.135800638T>A | CA348592474 | LCT | c.4835A>T (p.Glu1612Val) c.2960-2500A>T (n.2960-2500A>T) | |
2 | g.135800638T>C | CA348592477 | LCT | c.4835A>G (p.Glu1612Gly) c.2960-2500A>G (n.2960-2500A>G) | |
2 | g.135800638T>G | CA348592480 | LCT | c.4835A>C (p.Glu1612Ala) c.2960-2500A>C (n.2960-2500A>C) | |
2 | g.135800639C>A | CA144318 | LCT | c.4834G>T (p.Glu1612Ter) c.2960-2501G>T (n.2960-2501G>T) | ClinVar dbSNP |
2 | g.135800639C= | CA1290827601 | LCT | c.4834G= (p.Glu1612=) c.2960-2501G= (n.2960-2501G=) | |
2 | g.135800639C>G | CA348592485 | LCT | c.4834G>C (p.Glu1612Gln) c.2960-2501G>C (n.2960-2501G>C) | gnomAD v4 |
2 | g.135800639C>T | CA348592490 | LCT | c.4834G>A (p.Glu1612Lys) c.2960-2501G>A (n.2960-2501G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135800640C>A | CA348592493 | LCT | c.4833G>T (p.Gln1611His) c.2960-2502G>T (n.2960-2502G>T) | dbSNP gnomAD v4 |
2 | g.135800640C>G | CA348592492 | LCT | c.4833G>C (p.Gln1611His) c.2960-2502G>C (n.2960-2502G>C) | |
2 | g.135800640C>T | CA429086330 | LCT | c.4833G>A (p.Gln1611=) c.2960-2502G>A (n.2960-2502G>A) | |
2 | g.135800641T>A | CA348592496 | LCT | c.4832A>T (p.Gln1611Leu) c.2960-2503A>T (n.2960-2503A>T) | |
2 | g.135800641T>C | CA348592498 | LCT | c.4832A>G (p.Gln1611Arg) c.2960-2503A>G (n.2960-2503A>G) | gnomAD v4 |
2 | g.135800641T>G | CA348592501 | LCT | c.4832A>C (p.Gln1611Pro) c.2960-2503A>C (n.2960-2503A>C) | |
2 | g.135800642G>A | CA348592505 | LCT | c.4831C>T (p.Gln1611Ter) c.2960-2504C>T (n.2960-2504C>T) | |
2 | g.135800642G>C | CA348592507 | LCT | c.4831C>G (p.Gln1611Glu) c.2960-2504C>G (n.2960-2504C>G) | |
2 | g.135800642G>T | CA348592510 | LCT | c.4831C>A (p.Gln1611Lys) c.2960-2504C>A (n.2960-2504C>A) | |
2 | g.135800643G>A | CA429086333 | LCT | c.4830C>T (p.Asn1610=) c.2960-2505C>T (n.2960-2505C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135800643G>C | CA348592516 | LCT | c.4830C>G (p.Asn1610Lys) c.2960-2505C>G (n.2960-2505C>G) | |
2 | g.135800643G= | CA1290827602 | LCT | c.4830C= (p.Asn1610=) c.2960-2505C= (n.2960-2505C=) | |
2 | g.135800643G>T | CA348592513 | LCT | c.4830C>A (p.Asn1610Lys) c.2960-2505C>A (n.2960-2505C>A) | |
2 | g.135800644T>A | CA348592519 | LCT | c.4829A>T (p.Asn1610Ile) c.2960-2506A>T (n.2960-2506A>T) | |
2 | g.135800644T>C | CA348592524 | LCT | c.4829A>G (p.Asn1610Ser) c.2960-2506A>G (n.2960-2506A>G) | |
2 | g.135800644T>G | CA348592528 | LCT | c.4829A>C (p.Asn1610Thr) c.2960-2506A>C (n.2960-2506A>C) | |
2 | g.135800645T>A | CA348592529 | LCT | c.4828A>T (p.Asn1610Tyr) c.2960-2507A>T (n.2960-2507A>T) | |
2 | g.135800645T>C | CA348592532 | LCT | c.4828A>G (p.Asn1610Asp) c.2960-2507A>G (n.2960-2507A>G) | |
2 | g.135800645T>G | CA348592535 | LCT | c.4828A>C (p.Asn1610His) c.2960-2507A>C (n.2960-2507A>C) | |
2 | g.135800646A= | CA1290827603 | LCT | c.4827T= (p.Ser1609=) c.2960-2508T= (n.2960-2508T=) | |
2 | g.135800646A>C | CA429086335 | LCT | c.4827T>G (p.Ser1609=) c.2960-2508T>G (n.2960-2508T>G) | |
2 | g.135800646A>G | CA429086336 | LCT | c.4827T>C (p.Ser1609=) c.2960-2508T>C (n.2960-2508T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135800646A>T | CA429086337 | LCT | c.4827T>A (p.Ser1609=) c.2960-2508T>A (n.2960-2508T>A) | |
2 | g.135800647G>A | CA348592538 | LCT | c.4826C>T (p.Ser1609Phe) c.2960-2509C>T (n.2960-2509C>T) | |
2 | g.135800647G>C | CA348592546 | LCT | c.4826C>G (p.Ser1609Cys) c.2960-2509C>G (n.2960-2509C>G) | |
2 | g.135800647G>T | CA348592541 | LCT | c.4826C>A (p.Ser1609Tyr) c.2960-2509C>A (n.2960-2509C>A) | |
2 | g.135800648A>C | CA348592548 | LCT | c.4825T>G (p.Ser1609Ala) c.2960-2510T>G (n.2960-2510T>G) | |
2 | g.135800648A>G | CA348592550 | LCT | c.4825T>C (p.Ser1609Pro) c.2960-2510T>C (n.2960-2510T>C) | |
2 | g.135800648A>T | CA348592553 | LCT | c.4825T>A (p.Ser1609Thr) c.2960-2510T>A (n.2960-2510T>A) | |
2 | g.135800649G>A | CA429086338 | LCT | c.4824C>T (p.Pro1608=) c.2960-2511C>T (n.2960-2511C>T) | dbSNP |
2 | g.135800649G>C | CA429086343 | LCT | c.4824C>G (p.Pro1608=) c.2960-2511C>G (n.2960-2511C>G) | |
2 | g.135800649G= | CA1290827604 | LCT | c.4824C= (p.Pro1608=) c.2960-2511C= (n.2960-2511C=) | |
2 | g.135800649G>T | CA429086340 | LCT | c.4824C>A (p.Pro1608=) c.2960-2511C>A (n.2960-2511C>A) | |
2 | g.135800650G>A | CA348592556 | LCT | c.4823C>T (p.Pro1608Leu) c.2960-2512C>T (n.2960-2512C>T) | |
2 | g.135800650G>C | CA348592559 | LCT | c.4823C>G (p.Pro1608Arg) c.2960-2512C>G (n.2960-2512C>G) | |
2 | g.135800650G>T | CA348592562 | LCT | c.4823C>A (p.Pro1608His) c.2960-2512C>A (n.2960-2512C>A) | |
2 | g.135800651G>A | CA348592568 | LCT | c.4822C>T (p.Pro1608Ser) c.2960-2513C>T (n.2960-2513C>T) | COSMIC |
2 | g.135800651G>C | CA348592565 | LCT | c.4822C>G (p.Pro1608Ala) c.2960-2513C>G (n.2960-2513C>G) | dbSNP gnomAD v4 |
2 | g.135800651G= | CA1290827605 | LCT | c.4822C= (p.Pro1608=) c.2960-2513C= (n.2960-2513C=) | |
2 | g.135800651G>T | CA348592567 | LCT | c.4822C>A (p.Pro1608Thr) c.2960-2513C>A (n.2960-2513C>A) | |
2 | g.135800652A= | CA1290827606 | LCT | c.4821T= (p.Asp1607=) c.2960-2514T= (n.2960-2514T=) | |
2 | g.135800652A>C | CA348592570 | LCT | c.4821T>G (p.Asp1607Glu) c.2960-2514T>G (n.2960-2514T>G) | |
2 | g.135800652A>G | CA429086347 | LCT | c.4821T>C (p.Asp1607=) c.2960-2514T>C (n.2960-2514T>C) | dbSNP |
2 | g.135800652A>T | CA348592572 | LCT | c.4821T>A (p.Asp1607Glu) c.2960-2514T>A (n.2960-2514T>A) | |
2 | g.135800653T>A | CA348592576 | LCT | c.4820A>T (p.Asp1607Val) c.2960-2515A>T (n.2960-2515A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135800653T>C | CA348592579 | LCT | c.4820A>G (p.Asp1607Gly) c.2960-2515A>G (n.2960-2515A>G) | gnomAD v4 |
2 | g.135800653T>G | CA348592580 | LCT | c.4820A>C (p.Asp1607Ala) c.2960-2515A>C (n.2960-2515A>C) | |
2 | g.135800653T= | CA1290827607 | LCT | c.4820A= (p.Asp1607=) c.2960-2515A= (n.2960-2515A=) | |
2 | g.135800654C>A | CA348592582 | LCT | c.4819G>T (p.Asp1607Tyr) c.2960-2516G>T (n.2960-2516G>T) | |
2 | g.135800654C>G | CA348592588 | LCT | c.4819G>C (p.Asp1607His) c.2960-2516G>C (n.2960-2516G>C) | |
2 | g.135800654C>T | CA348592586 | LCT | c.4819G>A (p.Asp1607Asn) c.2960-2516G>A (n.2960-2516G>A) | |
2 | g.135800655T>A | CA348592591 | LCT | c.4818A>T (p.Arg1606Ser) c.2960-2517A>T (n.2960-2517A>T) | |
2 | g.135800655T>C | CA429086353 | LCT | c.4818A>G (p.Arg1606=) c.2960-2517A>G (n.2960-2517A>G) | |
2 | g.135800655T>G | CA348592593 | LCT | c.4818A>C (p.Arg1606Ser) c.2960-2517A>C (n.2960-2517A>C) | |
2 | g.135800656C>A | CA348592598 | LCT | c.4817G>T (p.Arg1606Ile) c.2960-2518G>T (n.2960-2518G>T) | |
2 | g.135800656C>G | CA348592600 | LCT | c.4817G>C (p.Arg1606Thr) c.2960-2518G>C (n.2960-2518G>C) | |
2 | g.135800656C>T | CA348592603 | LCT | c.4817G>A (p.Arg1606Lys) c.2960-2518G>A (n.2960-2518G>A) | |
2 | g.135800657T>A | CA348592605 | LCT | c.4816A>T (p.Arg1606Ter) c.2960-2519A>T (n.2960-2519A>T) | |
2 | g.135800657T>C | CA348592608 | LCT | c.4816A>G (p.Arg1606Gly) c.2960-2519A>G (n.2960-2519A>G) | |
2 | g.135800657T>G | CA429086354 | LCT | c.4816A>C (p.Arg1606=) c.2960-2519A>C (n.2960-2519A>C) | |
2 | g.135800658G>A | CA429086356 | LCT | c.4815C>T (p.Pro1605=) c.2960-2520C>T (n.2960-2520C>T) | dbSNP |
2 | g.135800658G>C | CA429086358 | LCT | c.4815C>G (p.Pro1605=) c.2960-2520C>G (n.2960-2520C>G) | |
2 | g.135800658G= | CA1290827608 | LCT | c.4815C= (p.Pro1605=) c.2960-2520C= (n.2960-2520C=) | |
2 | g.135800658G>T | CA429086359 | LCT | c.4815C>A (p.Pro1605=) c.2960-2520C>A (n.2960-2520C>A) | |
2 | g.135800659G>A | CA348592612 | LCT | c.4814C>T (p.Pro1605Leu) c.2960-2521C>T (n.2960-2521C>T) | gnomAD v4 |
2 | g.135800659G>C | CA348592619 | LCT | c.4814C>G (p.Pro1605Arg) c.2960-2521C>G (n.2960-2521C>G) | |
2 | g.135800659G>T | CA348592622 | LCT | c.4814C>A (p.Pro1605His) c.2960-2521C>A (n.2960-2521C>A) | |
2 | g.135800660G>A | CA348592624 | LCT | c.4813C>T (p.Pro1605Ser) c.2960-2522C>T (n.2960-2522C>T) | dbSNP |
2 | g.135800660G>C | CA348592631 | LCT | c.4813C>G (p.Pro1605Ala) c.2960-2522C>G (n.2960-2522C>G) | |
2 | g.135800660G= | CA1290827609 | LCT | c.4813C= (p.Pro1605=) c.2960-2522C= (n.2960-2522C=) | |
2 | g.135800660G>T | CA348592628 | LCT | c.4813C>A (p.Pro1605Thr) c.2960-2522C>A (n.2960-2522C>A) | |
2 | g.135800661T>A | CA348592633 | LCT | c.4812A>T (p.Glu1604Asp) c.2960-2523A>T (n.2960-2523A>T) | COSMIC |
2 | g.135800661T>C | CA429086361 | LCT | c.4812A>G (p.Glu1604=) c.2960-2523A>G (n.2960-2523A>G) | dbSNP |
2 | g.135800661T>G | CA348592635 | LCT | c.4812A>C (p.Glu1604Asp) c.2960-2523A>C (n.2960-2523A>C) | |
2 | g.135800661T= | CA1290827610 | LCT | c.4812A= (p.Glu1604=) c.2960-2523A= (n.2960-2523A=) | |
2 | g.135800662T>A | CA348592640 | LCT | c.4811A>T (p.Glu1604Val) c.2960-2524A>T (n.2960-2524A>T) | |
2 | g.135800662T>C | CA348592646 | LCT | c.4811A>G (p.Glu1604Gly) c.2960-2524A>G (n.2960-2524A>G) | |
2 | g.135800662T>G | CA348592644 | LCT | c.4811A>C (p.Glu1604Ala) c.2960-2524A>C (n.2960-2524A>C) | |
2 | g.135800663C>A | CA348592649 | LCT | c.4810G>T (p.Glu1604Ter) c.2960-2525G>T (n.2960-2525G>T) | |
2 | g.135800663C>G | CA348592653 | LCT | c.4810G>C (p.Glu1604Gln) c.2960-2525G>C (n.2960-2525G>C) | |
2 | g.135800663C>T | CA348592655 | LCT | c.4810G>A (p.Glu1604Lys) c.2960-2525G>A (n.2960-2525G>A) | gnomAD v4 |
2 | g.135800664A>C | CA429086368 | LCT | c.4809T>G (p.Ala1603=) c.2960-2526T>G (n.2960-2526T>G) | |
2 | g.135800664A>G | CA429086364 | LCT | c.4809T>C (p.Ala1603=) c.2960-2526T>C (n.2960-2526T>C) | ClinVar |
2 | g.135800664A>T | CA429086366 | LCT | c.4809T>A (p.Ala1603=) c.2960-2526T>A (n.2960-2526T>A) | |
2 | g.135800665G>A | CA348592659 | LCT | c.4808C>T (p.Ala1603Val) c.2960-2527C>T (n.2960-2527C>T) | |
2 | g.135800665G>C | CA348592663 | LCT | c.4808C>G (p.Ala1603Gly) c.2960-2527C>G (n.2960-2527C>G) | COSMIC |
2 | g.135800665G>T | CA348592666 | LCT | c.4808C>A (p.Ala1603Asp) c.2960-2527C>A (n.2960-2527C>A) | |
2 | g.135800666C>A | CA348592670 | LCT | c.4807G>T (p.Ala1603Ser) c.2960-2528G>T (n.2960-2528G>T) | |
2 | g.135800666C>G | CA348592673 | LCT | c.4807G>C (p.Ala1603Pro) c.2960-2528G>C (n.2960-2528G>C) | |
2 | g.135800666C>T | CA348592675 | LCT | c.4807G>A (p.Ala1603Thr) c.2960-2528G>A (n.2960-2528G>A) | |
2 | g.135800667C>A | CA348592683 | LCT | c.4806G>T (p.Trp1602Cys) c.2960-2529G>T (n.2960-2529G>T) | |
2 | g.135800667C>G | CA348592680 | LCT | c.4806G>C (p.Trp1602Cys) c.2960-2529G>C (n.2960-2529G>C) | |
2 | g.135800667C>T | CA348592678 | LCT | c.4806G>A (p.Trp1602Ter) c.2960-2529G>A (n.2960-2529G>A) | |
2 | g.135800668C>A | CA348592688 | LCT | c.4805G>T (p.Trp1602Leu) c.2960-2530G>T (n.2960-2530G>T) | COSMIC |
2 | g.135800668C>G | CA348592690 | LCT | c.4805G>C (p.Trp1602Ser) c.2960-2530G>C (n.2960-2530G>C) | |
2 | g.135800668C>T | CA348592691 | LCT | c.4805G>A (p.Trp1602Ter) c.2960-2530G>A (n.2960-2530G>A) | |
2 | g.135800669A>C | CA348592694 | LCT | c.4804T>G (p.Trp1602Gly) c.2960-2531T>G (n.2960-2531T>G) | |
2 | g.135800669A>G | CA348592697 | LCT | c.4804T>C (p.Trp1602Arg) c.2960-2531T>C (n.2960-2531T>C) | |
2 | g.135800669A>T | CA348592700 | LCT | c.4804T>A (p.Trp1602Arg) c.2960-2531T>A (n.2960-2531T>A) | |
2 | g.135800670G>A | CA429086374 | LCT | c.4803C>T (p.Asp1601=) c.2960-2532C>T (n.2960-2532C>T) | |
2 | g.135800670G>C | CA348592703 | LCT | c.4803C>G (p.Asp1601Glu) c.2960-2532C>G (n.2960-2532C>G) | |
2 | g.135800670G>T | CA348592705 | LCT | c.4803C>A (p.Asp1601Glu) c.2960-2532C>A (n.2960-2532C>A) | |
2 | g.135800671T>A | CA348592708 | LCT | c.4802A>T (p.Asp1601Val) c.2960-2533A>T (n.2960-2533A>T) | |
2 | g.135800671T>C | CA348592711 | LCT | c.4802A>G (p.Asp1601Gly) c.2960-2533A>G (n.2960-2533A>G) | |
2 | g.135800671T>G | CA348592713 | LCT | c.4802A>C (p.Asp1601Ala) c.2960-2533A>C (n.2960-2533A>C) | |
2 | g.135800672C>A | CA348592719 | LCT | c.4801G>T (p.Asp1601Tyr) c.2960-2534G>T (n.2960-2534G>T) | gnomAD v4 |
2 | g.135800672C>G | CA348592722 | LCT | c.4801G>C (p.Asp1601His) c.2960-2534G>C (n.2960-2534G>C) | |
2 | g.135800672C>T | CA348592716 | LCT | c.4801G>A (p.Asp1601Asn) c.2960-2534G>A (n.2960-2534G>A) | |
2 | g.135800673A= | CA1290827611 | LCT | c.4800T= (p.Ser1600=) c.2960-2535T= (n.2960-2535T=) | |
2 | g.135800673A>C | CA348592724 | LCT | c.4800T>G (p.Ser1600Arg) c.2960-2535T>G (n.2960-2535T>G) | |
2 | g.135800673A>G | CA1887771 | LCT | c.4800T>C (p.Ser1600=) c.2960-2535T>C (n.2960-2535T>C) | dbSNP ExAC gnomAD v2 |
2 | g.135800673A>T | CA348592729 | LCT | c.4800T>A (p.Ser1600Arg) c.2960-2535T>A (n.2960-2535T>A) | |
2 | g.135800674C>A | CA348592734 | LCT | c.4799G>T (p.Ser1600Ile) c.2960-2536G>T (n.2960-2536G>T) | |
2 | g.135800674C>G | CA348592736 | LCT | c.4799G>C (p.Ser1600Thr) c.2960-2536G>C (n.2960-2536G>C) | |
2 | g.135800674C>T | CA348592739 | LCT | c.4799G>A (p.Ser1600Asn) c.2960-2536G>A (n.2960-2536G>A) | gnomAD v4 |