2 | g.135789496G>A | CA2752308177 | LCT | c.5563+75C>T (n.5563+75C>T)
| |
2 | g.135789496G>T | CA2661273515 | LCT | c.5563+75C>A (n.5563+75C>A)
| gnomAD v4 |
2 | g.135789497A= | CA1290822630 | LCT | c.5563+74T= (n.5563+74T=)
| |
2 | g.135789497A>C | CA2581837660 | LCT | c.5563+74T>G (n.5563+74T>G)
| |
2 | g.135789497A>G | CA56594877 | LCT | c.5563+74T>C (n.5563+74T>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135789497A>T | CA1290822631 | LCT | c.5563+74T>A (n.5563+74T>A)
| dbSNP gnomAD v4 |
2 | g.135789500dup | CA2840305758 | LCT | c.5563+74dup (n.5563+74dup)
| |
2 | g.135789498A>C | CA2661273518 | LCT | c.5563+73T>G (n.5563+73T>G)
| gnomAD v4 |
2 | g.135789501C>A | CA2661273520 | LCT | c.5563+70G>T (n.5563+70G>T)
| gnomAD v4 |
2 | g.135789501C>T | CA2661273521 | LCT | c.5563+70G>A (n.5563+70G>A)
| gnomAD v4 |
2 | g.135789502A= | CA1290822632 | LCT | c.5563+69T= (n.5563+69T=)
| |
2 | g.135789502A>C | CA2661273523 | LCT | c.5563+69T>G (n.5563+69T>G)
| gnomAD v4 |
2 | g.135789502A>G | CA56594880 | LCT | c.5563+69T>C (n.5563+69T>C)
| dbSNP gnomAD v4 |
2 | g.135789503G>T | CA2661273528 | LCT | c.5563+68C>A (n.5563+68C>A)
| gnomAD v4 |
2 | g.135789504A>G | CA2661273529 | LCT | c.5563+67T>C (n.5563+67T>C)
| gnomAD v4 |
2 | g.135789504A>T | CA2661273530 | LCT | c.5563+67T>A (n.5563+67T>A)
| gnomAD v4 |
2 | g.135789505C>A | CA2661273531 | LCT | c.5563+66G>T (n.5563+66G>T)
| gnomAD v4 |
2 | g.135789505C= | CA1290822633 | LCT | c.5563+66G= (n.5563+66G=)
| |
2 | g.135789505C>G | CA56594885 | LCT | c.5563+66G>C (n.5563+66G>C)
| dbSNP gnomAD v4 |
2 | g.135789505C>T | CA536547389 | LCT | c.5563+66G>A (n.5563+66G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135789506T>A | CA2839270924 | LCT | c.5563+65A>T (n.5563+65A>T)
| |
2 | g.135789507G>A | CA2661273533 | LCT | c.5563+64C>T (n.5563+64C>T)
| gnomAD v4 |
2 | g.135789507G>T | CA2577107628 | LCT | c.5563+64C>A (n.5563+64C>A)
| gnomAD v4 |
2 | g.135789512_135789513del | CA2661273532 | LCT | c.5563+63_5563+64del (n.5563+63_5563+64del)
| gnomAD v4 |
2 | g.135789510_135789513del | CA2661273534 | LCT | c.5563+61_5563+64del (n.5563+61_5563+64del)
| gnomAD v4 |
2 | g.135789508A>G | CA2661273535 | LCT | c.5563+63T>C (n.5563+63T>C)
| gnomAD v4 |
2 | g.135789509G>T | CA2661273536 | LCT | c.5563+62C>A (n.5563+62C>A)
| gnomAD v4 |
2 | g.135789511G>A | CA1036793494 | LCT | c.5563+60C>T (n.5563+60C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.135789511G= | CA1290822634 | LCT | c.5563+60C= (n.5563+60C=)
| |
2 | g.135789511G>T | CA56594893 | LCT | c.5563+60C>A (n.5563+60C>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.135789512del | CA2838400178 | LCT | c.5563+59del (n.5563+59del)
| |
2 | g.135789512A= | CA1290822635 | LCT | c.5563+59T= (n.5563+59T=)
| |
2 | g.135789512A>G | CA2661273537 | LCT | c.5563+59T>C (n.5563+59T>C)
| gnomAD v4 |
2 | g.135789512A>T | CA56594907 | LCT | c.5563+59T>A (n.5563+59T>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.135789513G>A | CA2661273538 | LCT | c.5563+58C>T (n.5563+58C>T)
| gnomAD v4 |
2 | g.135789513G>T | CA2577107629 | LCT | c.5563+58C>A (n.5563+58C>A)
| gnomAD v4 |
2 | g.135789514G>A | CA2661273539 | LCT | c.5563+57C>T (n.5563+57C>T)
| gnomAD v4 |
2 | g.135789514G>C | CA2661273540 | LCT | c.5563+57C>G (n.5563+57C>G)
| gnomAD v4 |
2 | g.135789514G>T | CA2661273541 | LCT | c.5563+57C>A (n.5563+57C>A)
| gnomAD v4 |
2 | g.135789515C>A | CA2661273542 | LCT | c.5563+56G>T (n.5563+56G>T)
| gnomAD v4 |
2 | g.135789515C= | CA1290822636 | LCT | c.5563+56G= (n.5563+56G=)
| |
2 | g.135789515C>G | CA1036793503 | LCT | c.5563+56G>C (n.5563+56G>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.135789515C>T | CA757454297 | LCT | c.5563+56G>A (n.5563+56G>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.135789517del | CA2840305759 | LCT | c.5563+56del (n.5563+56del)
| |
2 | g.135789517C>A | CA2840305760 | LCT | c.5563+54G>T (n.5563+54G>T)
| |
2 | g.135789517C= | CA1290822637 | LCT | c.5563+54G= (n.5563+54G=)
| |
2 | g.135789517C>G | CA2577107630 | LCT | c.5563+54G>C (n.5563+54G>C)
| |
2 | g.135789517C>T | CA56594908 | LCT | c.5563+54G>A (n.5563+54G>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.135789519T>A | CA2840305761 | LCT | c.5563+52A>T (n.5563+52A>T)
| |
2 | g.135789519T>C | CA2840305762 | LCT | c.5563+52A>G (n.5563+52A>G)
| |
2 | g.135789521C>A | CA2661273543 | LCT | c.5563+50G>T (n.5563+50G>T)
| gnomAD v4 |
2 | g.135789521C= | CA1290822638 | LCT | c.5563+50G= (n.5563+50G=)
| |
2 | g.135789521C>T | CA2577107631 | LCT | c.5563+50G>A (n.5563+50G>A)
| |
2 | g.135789522dup | CA1887594 | LCT | c.5563+49dup (n.5563+49dup)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135789523C= | CA1290822639 | LCT | c.5563+48G= (n.5563+48G=)
| |
2 | g.135789523C>T | CA536547390 | LCT | c.5563+48G>A (n.5563+48G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135789524C= | CA1290822640 | LCT | c.5563+47G= (n.5563+47G=)
| |
2 | g.135789524C>G | CA1887595 | LCT | c.5563+47G>C (n.5563+47G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135789525T>A | CA2661273544 | LCT | c.5563+46A>T (n.5563+46A>T)
| gnomAD v4 |
2 | g.135789526G>A | CA2661273545 | LCT | c.5563+45C>T (n.5563+45C>T)
| gnomAD v4 |
2 | g.135789526G>T | CA2661273546 | LCT | c.5563+45C>A (n.5563+45C>A)
| gnomAD v4 |
2 | g.135789527C>A | CA2661273547 | LCT | c.5563+44G>T (n.5563+44G>T)
| gnomAD v4 |
2 | g.135789528C>G | CA2577107632 | LCT | c.5563+43G>C (n.5563+43G>C)
| |
2 | g.135789529C>A | CA2661273548 | LCT | c.5563+42G>T (n.5563+42G>T)
| gnomAD v4 |
2 | g.135789529C= | CA1290822641 | LCT | c.5563+42G= (n.5563+42G=)
| |
2 | g.135789529C>G | CA1036793510 | LCT | c.5563+42G>C (n.5563+42G>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.135789529C>T | CA2661273549 | LCT | c.5563+42G>A (n.5563+42G>A)
| gnomAD v4 |
2 | g.135789530T>C | CA2700693485 | LCT | c.5563+41A>G (n.5563+41A>G)
| dbSNP |
2 | g.135789534C= | CA1290822642 | LCT | c.5563+37G= (n.5563+37G=)
| |
2 | g.135789534C>T | CA1290822643 | LCT | c.5563+37G>A (n.5563+37G>A)
| dbSNP gnomAD v4 |
2 | g.135789535C= | CA1290822644 | LCT | c.5563+36G= (n.5563+36G=)
| |
2 | g.135789535C>T | CA536547391 | LCT | c.5563+36G>A (n.5563+36G>A)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.135789536C>A | CA2577107633 | LCT | c.5563+35G>T (n.5563+35G>T)
| |
2 | g.135789536C= | CA1290822645 | LCT | c.5563+35G= (n.5563+35G=)
| |
2 | g.135789536C>G | CA1290822646 | LCT | c.5563+35G>C (n.5563+35G>C)
| dbSNP gnomAD v4 |
2 | g.135789536C>T | CA2661273550 | LCT | c.5563+35G>A (n.5563+35G>A)
| gnomAD v4 |
2 | g.135789538dup | CA1887596 | LCT | c.5563+34dup (n.5563+34dup)
| dbSNP ExAC gnomAD v2 |
2 | g.135789540G>T | CA2661273551 | LCT | c.5563+31C>A (n.5563+31C>A)
| gnomAD v4 |
2 | g.135789541G>T | CA2661273552 | LCT | c.5563+30C>A (n.5563+30C>A)
| gnomAD v4 |
2 | g.135789542C>T | CA2661273553 | LCT | c.5563+29G>A (n.5563+29G>A)
| gnomAD v4 |
2 | g.135789544T>C | CA536547392 | LCT | c.5563+27A>G (n.5563+27A>G)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.135789544T= | CA1290822647 | LCT | c.5563+27A= (n.5563+27A=)
| |
2 | g.135789546_135789548del | CA2661273554 | LCT | c.5563+25_5563+27del (n.5563+25_5563+27del)
| gnomAD v4 |
2 | g.135789545T>C | CA1036793511 | LCT | c.5563+26A>G (n.5563+26A>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.135789545T= | CA1290822648 | LCT | c.5563+26A= (n.5563+26A=)
| |
2 | g.135789546A= | CA1290822649 | LCT | c.5563+25T= (n.5563+25T=)
| |
2 | g.135789546A>G | CA1036793513 | LCT | c.5563+25T>C (n.5563+25T>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.135789548T>A | CA1887597 | LCT | c.5563+23A>T (n.5563+23A>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135789548T>C | CA2661273555 | LCT | c.5563+23A>G (n.5563+23A>G)
| gnomAD v4 |
2 | g.135789548T= | CA1290822650 | LCT | c.5563+23A= (n.5563+23A=)
| |
2 | g.135789549C= | CA1290822651 | LCT | c.5563+22G= (n.5563+22G=)
| |
2 | g.135789549C>G | CA536547393 | LCT | c.5563+22G>C (n.5563+22G>C)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.135789549C>T | CA2661273556 | LCT | c.5563+22G>A (n.5563+22G>A)
| gnomAD v4 |
2 | g.135789551C>A | CA2661273557 | LCT | c.5563+20G>T (n.5563+20G>T)
| gnomAD v4 |
2 | g.135789551C= | CA1290822652 | LCT | c.5563+20G= (n.5563+20G=)
| |
2 | g.135789551C>T | CA56594920 | LCT | c.5563+20G>A (n.5563+20G>A)
| dbSNP |
2 | g.135789552T>G | CA2577107634 | LCT | c.5563+19A>C (n.5563+19A>C)
| |
2 | g.135789555C= | CA1290822653 | LCT | c.5563+16G= (n.5563+16G=)
| |
2 | g.135789555C>G | CA2661273558 | LCT | c.5563+16G>C (n.5563+16G>C)
| gnomAD v4 |
2 | g.135789555C>T | CA1290822654 | LCT | c.5563+16G>A (n.5563+16G>A)
| dbSNP |
2 | g.135789556_135789560del | CA2577107636 | LCT | c.5563+12_5563+16del (n.5563+12_5563+16del)
| |
2 | g.135789556A>G | CA2577107637 | LCT | c.5563+15T>C (n.5563+15T>C)
| |
2 | g.135789558A= | CA1290822655 | LCT | c.5563+13T= (n.5563+13T=)
| |
2 | g.135789558A>G | CA1887598 | LCT | c.5563+13T>C (n.5563+13T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135789559G>A | CA2661273559 | LCT | c.5563+12C>T (n.5563+12C>T)
| gnomAD v4 |
2 | g.135789559G>T | CA2661273560 | LCT | c.5563+12C>A (n.5563+12C>A)
| gnomAD v4 |
2 | g.135789560C>A | CA2661273561 | LCT | c.5563+11G>T (n.5563+11G>T)
| gnomAD v4 |
2 | g.135789561del | CA2577107639 | LCT | c.5563+11del (n.5563+11del)
| |
2 | g.135789562A= | CA1290822656 | LCT | c.5563+9T= (n.5563+9T=)
| |
2 | g.135789562A>T | CA1036793515 | LCT | c.5563+9T>A (n.5563+9T>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.135789564A= | CA1290822657 | LCT | c.5563+7T= (n.5563+7T=)
| |
2 | g.135789564A>G | CA1139657216 | LCT | c.5563+7T>C (n.5563+7T>C)
| ClinVar dbSNP gnomAD v4 |
2 | g.135789565T>A | CA1887599 | LCT | c.5563+6A>T (n.5563+6A>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135789565T>C | CA2661273562 | LCT | c.5563+6A>G (n.5563+6A>G)
| gnomAD v4 |
2 | g.135789565T= | CA1290822658 | LCT | c.5563+6A= (n.5563+6A=)
| |
2 | g.135789567_135789568dup | CA2661273563 | LCT | c.5563+5_5563+6dup (n.5563+5_5563+6dup)
| gnomAD v4 |
2 | g.135789568C>T | CA2661273564 | LCT | c.5563+3G>A (n.5563+3G>A)
| gnomAD v4 |
2 | g.135789569A= | CA1290822659 | LCT | c.5563+2T= (n.5563+2T=)
| |
2 | g.135789569A>C | CA348585816 | LCT | c.5563+2T>G (n.5563+2T>G)
| dbSNP |
2 | g.135789569A>G | CA348585814 | LCT | c.5563+2T>C (n.5563+2T>C)
| |
2 | g.135789569A>T | CA348585812 | LCT | c.5563+2T>A (n.5563+2T>A)
| |
2 | g.135789570C>A | CA348585818 | LCT | c.5563+1G>T (n.5563+1G>T)
| |
2 | g.135789570C>G | CA348585821 | LCT | c.5563+1G>C (n.5563+1G>C)
| |
2 | g.135789570C>T | CA348585823 | LCT | c.5563+1G>A (n.5563+1G>A)
| |
2 | g.135789571C>A | CA348585827 | LCT | c.5563G>T (p.Asp1855Tyr)
| |
2 | g.135789571C>G | CA348585829 | LCT | c.5563G>C (p.Asp1855His)
| |
2 | g.135789571C>T | CA348585831 | LCT | c.5563G>A (p.Asp1855Asn)
| |
2 | g.135789572T>A | CA429084926 | LCT | c.5562A>T (p.Pro1854=)
| |
2 | g.135789572T>C | CA429084928 | LCT | c.5562A>G (p.Pro1854=)
| gnomAD v4 |
2 | g.135789572T>G | CA429084927 | LCT | c.5562A>C (p.Pro1854=)
| |
2 | g.135789573G>A | CA348585835 | LCT | c.5561C>T (p.Pro1854Leu)
| |
2 | g.135789573G>C | CA348585837 | LCT | c.5561C>G (p.Pro1854Arg)
| |
2 | g.135789573G>T | CA348585839 | LCT | c.5561C>A (p.Pro1854Gln)
| |
2 | g.135789573_135789574delinsTT | CA645528830 | LCT | c.5560_5561delinsAA (p.Pro1854Lys)
| COSMIC |
2 | g.135789574G>A | CA348585842 | LCT | c.5560C>T (p.Pro1854Ser)
| |
2 | g.135789574G>C | CA348585845 | LCT | c.5560C>G (p.Pro1854Ala)
| |
2 | g.135789574G>T | CA348585847 | LCT | c.5560C>A (p.Pro1854Thr)
| gnomAD v4 |
2 | g.135789575C>A | CA348585849 | LCT | c.5559G>T (p.Gln1853His)
| |
2 | g.135789575C>G | CA348585852 | LCT | c.5559G>C (p.Gln1853His)
| |
2 | g.135789575C>T | CA429084934 | LCT | c.5559G>A (p.Gln1853=)
| COSMIC |
2 | g.135789576T>A | CA348585860 | LCT | c.5558A>T (p.Gln1853Leu)
| |
2 | g.135789576T>C | CA348585858 | LCT | c.5558A>G (p.Gln1853Arg)
| |
2 | g.135789576T>G | CA348585855 | LCT | c.5558A>C (p.Gln1853Pro)
| |
2 | g.135789577G>A | CA348585862 | LCT | c.5557C>T (p.Gln1853Ter)
| gnomAD v4 |
2 | g.135789577G>C | CA348585865 | LCT | c.5557C>G (p.Gln1853Glu)
| |
2 | g.135789577G>T | CA348585868 | LCT | c.5557C>A (p.Gln1853Lys)
| |
2 | g.135789578G>A | CA429084938 | LCT | c.5556C>T (p.His1852=)
| |
2 | g.135789578G>C | CA348585872 | LCT | c.5556C>G (p.His1852Gln)
| |
2 | g.135789578G>T | CA348585874 | LCT | c.5556C>A (p.His1852Gln)
| |
2 | g.135789579T>A | CA348585881 | LCT | c.5555A>T (p.His1852Leu)
| |
2 | g.135789579T>C | CA348585879 | LCT | c.5555A>G (p.His1852Arg)
| dbSNP |
2 | g.135789579T>G | CA348585877 | LCT | c.5555A>C (p.His1852Pro)
| gnomAD v4 |
2 | g.135789580G>A | CA348585885 | LCT | c.5554C>T (p.His1852Tyr)
| gnomAD v4 |
2 | g.135789580G>C | CA348585887 | LCT | c.5554C>G (p.His1852Asp)
| |
2 | g.135789580G>T | CA348585888 | LCT | c.5554C>A (p.His1852Asn)
| |
2 | g.135789581G>A | CA429084947 | LCT | c.5553C>T (p.Leu1851=)
| gnomAD v4 COSMIC |
2 | g.135789581G>C | CA429084945 | LCT | c.5553C>G (p.Leu1851=)
| |
2 | g.135789581G>T | CA429084946 | LCT | c.5553C>A (p.Leu1851=)
| |
2 | g.135789582A>C | CA348585890 | LCT | c.5552T>G (p.Leu1851Arg)
| |
2 | g.135789582A>G | CA348585893 | LCT | c.5552T>C (p.Leu1851Pro)
| |
2 | g.135789582A>T | CA348585895 | LCT | c.5552T>A (p.Leu1851His)
| |
2 | g.135789583G>A | CA348585899 | LCT | c.5551C>T (p.Leu1851Phe)
| |
2 | g.135789583G>C | CA348585904 | LCT | c.5551C>G (p.Leu1851Val)
| |
2 | g.135789583G>T | CA348585901 | LCT | c.5551C>A (p.Leu1851Ile)
| |
2 | g.135789584A>C | CA348585907 | LCT | c.5550T>G (p.Cys1850Trp)
| |
2 | g.135789584A>G | CA429084952 | LCT | c.5550T>C (p.Cys1850=)
| |
2 | g.135789584A>T | CA348585910 | LCT | c.5550T>A (p.Cys1850Ter)
| |
2 | g.135789585C>A | CA348585914 | LCT | c.5549G>T (p.Cys1850Phe)
| |
2 | g.135789585C>G | CA348585916 | LCT | c.5549G>C (p.Cys1850Ser)
| |
2 | g.135789585C>T | CA348585919 | LCT | c.5549G>A (p.Cys1850Tyr)
| |
2 | g.135789586A>C | CA348585922 | LCT | c.5548T>G (p.Cys1850Gly)
| |
2 | g.135789586A>G | CA348585925 | LCT | c.5548T>C (p.Cys1850Arg)
| |
2 | g.135789586A>T | CA348585927 | LCT | c.5548T>A (p.Cys1850Ser)
| |
2 | g.135789587A= | CA1290822660 | LCT | c.5547T= (p.Ala1849=)
| |
2 | g.135789587A>C | CA429084959 | LCT | c.5547T>G (p.Ala1849=)
| |
2 | g.135789587A>G | CA429084954 | LCT | c.5547T>C (p.Ala1849=)
| dbSNP |
2 | g.135789587A>T | CA429084957 | LCT | c.5547T>A (p.Ala1849=)
| |
2 | g.135789588G>A | CA348585931 | LCT | c.5546C>T (p.Ala1849Val)
| |
2 | g.135789588G>C | CA348585933 | LCT | c.5546C>G (p.Ala1849Gly)
| |
2 | g.135789588G>T | CA348585936 | LCT | c.5546C>A (p.Ala1849Asp)
| |
2 | g.135789589C>A | CA348585939 | LCT | c.5545G>T (p.Ala1849Ser)
| |
2 | g.135789589C= | CA1290822661 | LCT | c.5545G= (p.Ala1849=)
| |
2 | g.135789589C>G | CA348585944 | LCT | c.5545G>C (p.Ala1849Pro)
| gnomAD v4 |
2 | g.135789589C>T | CA348585941 | LCT | c.5545G>A (p.Ala1849Thr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.135789590G>A | CA1887600 | LCT | c.5544C>T (p.His1848=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.135789590G>C | CA348585952 | LCT | c.5544C>G (p.His1848Gln)
| |
2 | g.135789590G= | CA1290822662 | LCT | c.5544C= (p.His1848=)
| |
2 | g.135789590G>T | CA348585949 | LCT | c.5544C>A (p.His1848Gln)
| |
2 | g.135789591T>A | CA348585956 | LCT | c.5543A>T (p.His1848Leu)
| |
2 | g.135789591T>C | CA348585958 | LCT | c.5543A>G (p.His1848Arg)
| dbSNP gnomAD v4 |
2 | g.135789591T>G | CA348585960 | LCT | c.5543A>C (p.His1848Pro)
| |
2 | g.135789591T= | CA1290822663 | LCT | c.5543A= (p.His1848=)
| |
2 | g.135789592G>A | CA348585964 | LCT | c.5542C>T (p.His1848Tyr)
| |
2 | g.135789592G>C | CA348585966 | LCT | c.5542C>G (p.His1848Asp)
| |
2 | g.135789592G>T | CA348585968 | LCT | c.5542C>A (p.His1848Asn)
| |
2 | g.135789593A>C | CA429084969 | LCT | c.5541T>G (p.Pro1847=)
| |
2 | g.135789593A>G | CA429084970 | LCT | c.5541T>C (p.Pro1847=)
| |
2 | g.135789593A>T | CA429084973 | LCT | c.5541T>A (p.Pro1847=)
| |
2 | g.135789594G>A | CA348585970 | LCT | c.5540C>T (p.Pro1847Leu)
| |
2 | g.135789594G>C | CA348585972 | LCT | c.5540C>G (p.Pro1847Arg)
| |
2 | g.135789594G>T | CA348585974 | LCT | c.5540C>A (p.Pro1847His)
| |
2 | g.135789595G>A | CA348585977 | LCT | c.5539C>T (p.Pro1847Ser)
| |
2 | g.135789595G>C | CA348585980 | LCT | c.5539C>G (p.Pro1847Ala)
| |
2 | g.135789595G>T | CA348585982 | LCT | c.5539C>A (p.Pro1847Thr)
| |
2 | g.135789596C>A | CA429084979 | LCT | c.5538G>T (p.Gly1846=)
| gnomAD v4 |
2 | g.135789596C>G | CA429084978 | LCT | c.5538G>C (p.Gly1846=)
| |
2 | g.135789596C>T | CA429084976 | LCT | c.5538G>A (p.Gly1846=)
| gnomAD v4 |