2 | g.135833109A>C | CA348608712 | LCT | c.720+2T>G (n.720+2T>G)
| |
2 | g.135833109A>G | CA348608713 | LCT | c.720+2T>C (n.720+2T>C)
| |
2 | g.135833109A>T | CA348608714 | LCT | c.720+2T>A (n.720+2T>A)
| |
2 | g.135833110C>A | CA348608715 | LCT | c.720+1G>T (n.720+1G>T)
| ClinVar |
2 | g.135833110C>G | CA348608716 | LCT | c.720+1G>C (n.720+1G>C)
| |
2 | g.135833110C>T | CA348608717 | LCT | c.720+1G>A (n.720+1G>A)
| |
2 | g.135833111C>A | CA348608718 | LCT | c.720G>T (p.Gln240His)
| |
2 | g.135833111C>G | CA348608719 | LCT | c.720G>C (p.Gln240His)
| |
2 | g.135833111C>T | CA429093485 | LCT | c.720G>A (p.Gln240=)
| COSMIC |
2 | g.135833112T>A | CA348608721 | LCT | c.719A>T (p.Gln240Leu)
| |
2 | g.135833112T>C | CA348608722 | LCT | c.719A>G (p.Gln240Arg)
| gnomAD v4 |
2 | g.135833112T>G | CA348608720 | LCT | c.719A>C (p.Gln240Pro)
| |
2 | g.135833113G>A | CA348608724 | LCT | c.718C>T (p.Gln240Ter)
| gnomAD v4 |
2 | g.135833113G>C | CA348608723 | LCT | c.718C>G (p.Gln240Glu)
| |
2 | g.135833113G>T | CA348608725 | LCT | c.718C>A (p.Gln240Lys)
| |
2 | g.135833114G>A | CA429093486 | LCT | c.717C>T (p.Ala239=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.135833114G>C | CA429093487 | LCT | c.717C>G (p.Ala239=)
| |
2 | g.135833114G= | CA1290841264 | LCT | c.717C= (p.Ala239=)
| |
2 | g.135833114G>T | CA429093488 | LCT | c.717C>A (p.Ala239=)
| |
2 | g.135833115G>A | CA348608726 | LCT | c.716C>T (p.Ala239Val)
| |
2 | g.135833115G>C | CA348608728 | LCT | c.716C>G (p.Ala239Gly)
| dbSNP |
2 | g.135833115G= | CA1290841265 | LCT | c.716C= (p.Ala239=)
| |
2 | g.135833115G>T | CA348608727 | LCT | c.716C>A (p.Ala239Asp)
| |
2 | g.135833116C>A | CA348608729 | LCT | c.715G>T (p.Ala239Ser)
| |
2 | g.135833116C= | CA1290841266 | LCT | c.715G= (p.Ala239=)
| |
2 | g.135833116C>G | CA348608731 | LCT | c.715G>C (p.Ala239Pro)
| dbSNP |
2 | g.135833116C>T | CA348608730 | LCT | c.715G>A (p.Ala239Thr)
| |
2 | g.135833117A>C | CA429093489 | LCT | c.714T>G (p.Leu238=)
| |
2 | g.135833117A>G | CA429093490 | LCT | c.714T>C (p.Leu238=)
| |
2 | g.135833117A>T | CA429093491 | LCT | c.714T>A (p.Leu238=)
| |
2 | g.135833118A>C | CA348608732 | LCT | c.713T>G (p.Leu238Arg)
| gnomAD v4 |
2 | g.135833118A>G | CA348608733 | LCT | c.713T>C (p.Leu238Pro)
| |
2 | g.135833118A>T | CA348608734 | LCT | c.713T>A (p.Leu238His)
| |
2 | g.135833119G>A | CA348608735 | LCT | c.712C>T (p.Leu238Phe)
| gnomAD v4 |
2 | g.135833119G>C | CA348608736 | LCT | c.712C>G (p.Leu238Val)
| |
2 | g.135833119G>T | CA348608737 | LCT | c.712C>A (p.Leu238Ile)
| |
2 | g.135833120C>A | CA429093492 | LCT | c.711G>T (p.Ala237=)
| ClinVar dbSNP COSMIC |
2 | g.135833120C= | CA1290841267 | LCT | c.711G= (p.Ala237=)
| |
2 | g.135833120C>G | CA429093493 | LCT | c.711G>C (p.Ala237=)
| |
2 | g.135833120C>T | CA1888563 | LCT | c.711G>A (p.Ala237=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833121G>A | CA1888564 | LCT | c.710C>T (p.Ala237Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135833121G>C | CA348608738 | LCT | c.710C>G (p.Ala237Gly)
| |
2 | g.135833121G= | CA1290841268 | LCT | c.710C= (p.Ala237=)
| |
2 | g.135833121G>T | CA348608739 | LCT | c.710C>A (p.Ala237Glu)
| |
2 | g.135833122C>A | CA348608740 | LCT | c.709G>T (p.Ala237Ser)
| |
2 | g.135833122C= | CA1290841269 | LCT | c.709G= (p.Ala237=)
| |
2 | g.135833122C>G | CA348608741 | LCT | c.709G>C (p.Ala237Pro)
| |
2 | g.135833122C>T | CA348608742 | LCT | c.709G>A (p.Ala237Thr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.135833123A>C | CA429093494 | LCT | c.708T>G (p.Ser236=)
| |
2 | g.135833123A>G | CA429093495 | LCT | c.708T>C (p.Ser236=)
| |
2 | g.135833123A>T | CA429093496 | LCT | c.708T>A (p.Ser236=)
| |
2 | g.135833124G>A | CA348608743 | LCT | c.707C>T (p.Ser236Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833124G>C | CA348608745 | LCT | c.707C>G (p.Ser236Cys)
| |
2 | g.135833124G= | CA1290841270 | LCT | c.707C= (p.Ser236=)
| |
2 | g.135833124G>T | CA348608744 | LCT | c.707C>A (p.Ser236Tyr)
| |
2 | g.135833125A>C | CA348608746 | LCT | c.706T>G (p.Ser236Ala)
| COSMIC |
2 | g.135833125A>G | CA348608747 | LCT | c.706T>C (p.Ser236Pro)
| |
2 | g.135833125A>T | CA348608748 | LCT | c.706T>A (p.Ser236Thr)
| gnomAD v4 |
2 | g.135833126T>A | CA429093497 | LCT | c.705A>T (p.Ile235=)
| |
2 | g.135833126T>C | CA348608749 | LCT | c.705A>G (p.Ile235Met)
| |
2 | g.135833126T>G | CA429093498 | LCT | c.705A>C (p.Ile235=)
| |
2 | g.135833126T= | CA1290841271 | LCT | c.705A= (p.Ile235=)
| |
2 | g.135833127A>C | CA348608750 | LCT | c.704T>G (p.Ile235Arg)
| |
2 | g.135833127A>G | CA348608751 | LCT | c.704T>C (p.Ile235Thr)
| gnomAD v4 |
2 | g.135833127A>T | CA348608752 | LCT | c.704T>A (p.Ile235Lys)
| |
2 | g.135833127dup | CA916657778 | LCT | c.704dup (p.Ser236IlefsTer14)
| dbSNP gnomAD v4 |
2 | g.135833128T>A | CA348608753 | LCT | c.703A>T (p.Ile235Leu)
| |
2 | g.135833128T>C | CA1888565 | LCT | c.703A>G (p.Ile235Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833128T>G | CA348608754 | LCT | c.703A>C (p.Ile235Leu)
| |
2 | g.135833128T= | CA1290841272 | LCT | c.703A= (p.Ile235=)
| |
2 | g.135833129G>A | CA429093501 | LCT | c.702C>T (p.Pro234=)
| |
2 | g.135833129G>C | CA429093500 | LCT | c.702C>G (p.Pro234=)
| |
2 | g.135833129G>T | CA429093499 | LCT | c.702C>A (p.Pro234=)
| gnomAD v4 |
2 | g.135833130G>A | CA1888566 | LCT | c.701C>T (p.Pro234Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135833130G>C | CA348608756 | LCT | c.701C>G (p.Pro234Arg)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.135833130G= | CA1290841273 | LCT | c.701C= (p.Pro234=)
| |
2 | g.135833130G>T | CA348608755 | LCT | c.701C>A (p.Pro234His)
| |
2 | g.135833131G>A | CA348608757 | LCT | c.700C>T (p.Pro234Ser)
| |
2 | g.135833131G>C | CA348608758 | LCT | c.700C>G (p.Pro234Ala)
| |
2 | g.135833131G>T | CA348608759 | LCT | c.700C>A (p.Pro234Thr)
| |
2 | g.135833132T>A | CA429093502 | LCT | c.699A>T (p.Pro233=)
| |
2 | g.135833132T>C | CA429093503 | LCT | c.699A>G (p.Pro233=)
| |
2 | g.135833132T>G | CA429093504 | LCT | c.699A>C (p.Pro233=)
| |
2 | g.135833133G>A | CA348608760 | LCT | c.698C>T (p.Pro233Leu)
| COSMIC |
2 | g.135833133G>C | CA348608761 | LCT | c.698C>G (p.Pro233Arg)
| |
2 | g.135833133G>T | CA348608762 | LCT | c.698C>A (p.Pro233Gln)
| gnomAD v4 |
2 | g.135833134G>A | CA348608765 | LCT | c.697C>T (p.Pro233Ser)
| gnomAD v4 |
2 | g.135833134G>C | CA348608763 | LCT | c.697C>G (p.Pro233Ala)
| |
2 | g.135833134G>T | CA348608764 | LCT | c.697C>A (p.Pro233Thr)
| |
2 | g.135833135T>A | CA348608766 | LCT | c.696A>T (p.Glu232Asp)
| |
2 | g.135833135T>C | CA429093505 | LCT | c.696A>G (p.Glu232=)
| |
2 | g.135833135T>G | CA348608767 | LCT | c.696A>C (p.Glu232Asp)
| |
2 | g.135833136T>A | CA348608768 | LCT | c.695A>T (p.Glu232Val)
| |
2 | g.135833136T>C | CA348608769 | LCT | c.695A>G (p.Glu232Gly)
| |
2 | g.135833136T>G | CA348608770 | LCT | c.695A>C (p.Glu232Ala)
| gnomAD v4 |
2 | g.135833137C>A | CA348608771 | LCT | c.694G>T (p.Glu232Ter)
| |
2 | g.135833137C>G | CA348608773 | LCT | c.694G>C (p.Glu232Gln)
| |
2 | g.135833137C>T | CA348608772 | LCT | c.694G>A (p.Glu232Lys)
| |
2 | g.135833138T>A | CA429093506 | LCT | c.693A>T (p.Leu231=)
| |
2 | g.135833138T>C | CA1888567 | LCT | c.693A>G (p.Leu231=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135833138T>G | CA429093507 | LCT | c.693A>C (p.Leu231=)
| |
2 | g.135833138T= | CA1290841274 | LCT | c.693A= (p.Leu231=)
| |
2 | g.135833139A>C | CA348608774 | LCT | c.692T>G (p.Leu231Arg)
| |
2 | g.135833139A>G | CA348608775 | LCT | c.692T>C (p.Leu231Pro)
| |
2 | g.135833139A>T | CA348608776 | LCT | c.692T>A (p.Leu231Gln)
| |
2 | g.135833140G>A | CA429093508 | LCT | c.691C>T (p.Leu231=)
| |
2 | g.135833140G>C | CA348608777 | LCT | c.691C>G (p.Leu231Val)
| |
2 | g.135833140G>T | CA348608778 | LCT | c.691C>A (p.Leu231Ile)
| |
2 | g.135833141C>A | CA429093509 | LCT | c.690G>T (p.Leu230=)
| |
2 | g.135833141C>G | CA429093510 | LCT | c.690G>C (p.Leu230=)
| |
2 | g.135833141C>T | CA429093511 | LCT | c.690G>A (p.Leu230=)
| gnomAD v4 |
2 | g.135833142A= | CA1290841275 | LCT | c.689T= (p.Leu230=)
| |
2 | g.135833142A>C | CA348608779 | LCT | c.689T>G (p.Leu230Arg)
| |
2 | g.135833142A>G | CA348608780 | LCT | c.689T>C (p.Leu230Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.135833142A>T | CA348608781 | LCT | c.689T>A (p.Leu230Gln)
| |
2 | g.135833143G>A | CA429093512 | LCT | c.688C>T (p.Leu230=)
| |
2 | g.135833143G>C | CA348608782 | LCT | c.688C>G (p.Leu230Val)
| |
2 | g.135833143G>T | CA348608783 | LCT | c.688C>A (p.Leu230Met)
| |
2 | g.135833144G>A | CA1888568 | LCT | c.687C>T (p.Leu229=)
| dbSNP ExAC gnomAD v2 |
2 | g.135833144G>C | CA429093514 | LCT | c.687C>G (p.Leu229=)
| |
2 | g.135833144G= | CA1290841276 | LCT | c.687C= (p.Leu229=)
| |
2 | g.135833144G>T | CA429093513 | LCT | c.687C>A (p.Leu229=)
| |
2 | g.135833145A>C | CA348608785 | LCT | c.686T>G (p.Leu229Arg)
| |
2 | g.135833145A>G | CA348608784 | LCT | c.686T>C (p.Leu229Pro)
| |
2 | g.135833145A>T | CA348608786 | LCT | c.686T>A (p.Leu229His)
| |
2 | g.135833146G>A | CA348608787 | LCT | c.685C>T (p.Leu229Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833146G>C | CA348608788 | LCT | c.685C>G (p.Leu229Val)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.135833146G= | CA1290841277 | LCT | c.685C= (p.Leu229=)
| |
2 | g.135833146G>T | CA348608789 | LCT | c.685C>A (p.Leu229Ile)
| |
2 | g.135833147C>A | CA348608790 | LCT | c.684G>T (p.Glu228Asp)
| COSMIC |
2 | g.135833147C= | CA1290841278 | LCT | c.684G= (p.Glu228=)
| |
2 | g.135833147C>G | CA348608791 | LCT | c.684G>C (p.Glu228Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833147C>T | CA429093515 | LCT | c.684G>A (p.Glu228=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.135833148T>A | CA348608792 | LCT | c.683A>T (p.Glu228Val)
| |
2 | g.135833148T>C | CA348608793 | LCT | c.683A>G (p.Glu228Gly)
| ClinVar dbSNP gnomAD v4 |
2 | g.135833148T>G | CA348608794 | LCT | c.683A>C (p.Glu228Ala)
| |
2 | g.135833148T= | CA1290841279 | LCT | c.683A= (p.Glu228=)
| |
2 | g.135833149C>A | CA348608795 | LCT | c.682G>T (p.Glu228Ter)
| |
2 | g.135833149C>G | CA348608796 | LCT | c.682G>C (p.Glu228Gln)
| gnomAD v4 |
2 | g.135833149C>T | CA348608797 | LCT | c.682G>A (p.Glu228Lys)
| |
2 | g.135833150C>A | CA429093516 | LCT | c.681G>T (p.Pro227=)
| |
2 | g.135833150C= | CA1290841280 | LCT | c.681G= (p.Pro227=)
| |
2 | g.135833150C>G | CA429093517 | LCT | c.681G>C (p.Pro227=)
| |
2 | g.135833150C>T | CA56636540 | LCT | c.681G>A (p.Pro227=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833151G>A | CA1888569 | LCT | c.680C>T (p.Pro227Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135833151G>C | CA348608799 | LCT | c.680C>G (p.Pro227Arg)
| gnomAD v4 |
2 | g.135833151G= | CA1290841281 | LCT | c.680C= (p.Pro227=)
| |
2 | g.135833151G>T | CA348608798 | LCT | c.680C>A (p.Pro227Gln)
| |
2 | g.135833152G>A | CA348608800 | LCT | c.679C>T (p.Pro227Ser)
| |
2 | g.135833152G>C | CA1888570 | LCT | c.679C>G (p.Pro227Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135833152G= | CA1290841282 | LCT | c.679C= (p.Pro227=)
| |
2 | g.135833152G>T | CA348608801 | LCT | c.679C>A (p.Pro227Thr)
| |
2 | g.135833153G>A | CA429093518 | LCT | c.678C>T (p.Ile226=)
| |
2 | g.135833153G>C | CA348608802 | LCT | c.678C>G (p.Ile226Met)
| |
2 | g.135833153G>T | CA429093519 | LCT | c.678C>A (p.Ile226=)
| |
2 | g.135833154A= | CA1290841283 | LCT | c.677T= (p.Ile226=)
| |
2 | g.135833154A>C | CA348608803 | LCT | c.677T>G (p.Ile226Ser)
| |
2 | g.135833154A>G | CA1888571 | LCT | c.677T>C (p.Ile226Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833154A>T | CA348608804 | LCT | c.677T>A (p.Ile226Asn)
| |
2 | g.135833155T>A | CA348608805 | LCT | c.676A>T (p.Ile226Phe)
| |
2 | g.135833155T>C | CA348608806 | LCT | c.676A>G (p.Ile226Val)
| |
2 | g.135833155T>G | CA348608807 | LCT | c.676A>C (p.Ile226Leu)
| |
2 | g.135833156A= | CA1290841284 | LCT | c.675T= (p.Asp225=)
| |
2 | g.135833156A>C | CA348608808 | LCT | c.675T>G (p.Asp225Glu)
| |
2 | g.135833156A>G | CA429093520 | LCT | c.675T>C (p.Asp225=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.135833156A>T | CA348608809 | LCT | c.675T>A (p.Asp225Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833157T>A | CA348608811 | LCT | c.674A>T (p.Asp225Val)
| dbSNP |
2 | g.135833157T>C | CA348608812 | LCT | c.674A>G (p.Asp225Gly)
| dbSNP |
2 | g.135833157T>G | CA348608810 | LCT | c.674A>C (p.Asp225Ala)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.135833157T= | CA1290841285 | LCT | c.674A= (p.Asp225=)
| |
2 | g.135833158C>A | CA348608813 | LCT | c.673G>T (p.Asp225Tyr)
| |
2 | g.135833158C>G | CA348608814 | LCT | c.673G>C (p.Asp225His)
| |
2 | g.135833158C>T | CA348608815 | LCT | c.673G>A (p.Asp225Asn)
| |
2 | g.135833159T>A | CA348608816 | LCT | c.672A>T (p.Glu224Asp)
| |
2 | g.135833159T>C | CA429093521 | LCT | c.672A>G (p.Glu224=)
| |
2 | g.135833159T>G | CA348608817 | LCT | c.672A>C (p.Glu224Asp)
| |
2 | g.135833160T>A | CA348608820 | LCT | c.671A>T (p.Glu224Val)
| |
2 | g.135833160T>C | CA348608819 | LCT | c.671A>G (p.Glu224Gly)
| |
2 | g.135833160T>G | CA348608818 | LCT | c.671A>C (p.Glu224Ala)
| gnomAD v4 |
2 | g.135833161C>A | CA348608821 | LCT | c.670G>T (p.Glu224Ter)
| |
2 | g.135833161C>G | CA348608822 | LCT | c.670G>C (p.Glu224Gln)
| |
2 | g.135833161C>T | CA348608823 | LCT | c.670G>A (p.Glu224Lys)
| |
2 | g.135833162A>C | CA429093522 | LCT | c.669T>G (p.Ala223=)
| |
2 | g.135833162A>G | CA429093523 | LCT | c.669T>C (p.Ala223=)
| |
2 | g.135833162A>T | CA429093524 | LCT | c.669T>A (p.Ala223=)
| |
2 | g.135833163G>A | CA348608824 | LCT | c.668C>T (p.Ala223Val)
| |
2 | g.135833163G>C | CA348608825 | LCT | c.668C>G (p.Ala223Gly)
| |
2 | g.135833163G>T | CA348608826 | LCT | c.668C>A (p.Ala223Asp)
| |
2 | g.135833164C>A | CA348608827 | LCT | c.667G>T (p.Ala223Ser)
| gnomAD v4 |
2 | g.135833164C>G | CA348608829 | LCT | c.667G>C (p.Ala223Pro)
| |
2 | g.135833164C>T | CA348608828 | LCT | c.667G>A (p.Ala223Thr)
| gnomAD v4 |
2 | g.135833165T>A | CA429093525 | LCT | c.666A>T (p.Arg222=)
| |
2 | g.135833165T>C | CA429093527 | LCT | c.666A>G (p.Arg222=)
| |
2 | g.135833165T>G | CA429093526 | LCT | c.666A>C (p.Arg222=)
| |
2 | g.135833166C>A | CA348608830 | LCT | c.665G>T (p.Arg222Leu)
| |
2 | g.135833166C= | CA1290841286 | LCT | c.665G= (p.Arg222=)
| |
2 | g.135833166C>G | CA348608831 | LCT | c.665G>C (p.Arg222Pro)
| gnomAD v4 |
2 | g.135833166C>T | CA1888572 | LCT | c.665G>A (p.Arg222Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833167G>A | CA1888574 | LCT | c.664C>T (p.Arg222Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833167G>C | CA348608832 | LCT | c.664C>G (p.Arg222Gly)
| dbSNP gnomAD v4 |
2 | g.135833167G= | CA1290841287 | LCT | c.664C= (p.Arg222=)
| |
2 | g.135833167G>T | CA1888573 | LCT | c.664C>A (p.Arg222=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833168C>A | CA1888575 | LCT | c.663G>T (p.Leu221=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135833168C= | CA1290841288 | LCT | c.663G= (p.Leu221=)
| |
2 | g.135833168C>G | CA429093528 | LCT | c.663G>C (p.Leu221=)
| |
2 | g.135833168C>T | CA429093529 | LCT | c.663G>A (p.Leu221=)
| |
2 | g.135833169A>C | CA348608833 | LCT | c.662T>G (p.Leu221Arg)
| |
2 | g.135833169A>G | CA348608834 | LCT | c.662T>C (p.Leu221Pro)
| |
2 | g.135833169A>T | CA348608835 | LCT | c.662T>A (p.Leu221Gln)
| |
2 | g.135833170G>A | CA429093530 | LCT | c.661C>T (p.Leu221=)
| gnomAD v4 |
2 | g.135833170G>C | CA348608836 | LCT | c.661C>G (p.Leu221Val)
| |
2 | g.135833170G>T | CA348608837 | LCT | c.661C>A (p.Leu221Met)
| |
2 | g.135833171G>A | CA429093531 | LCT | c.660C>T (p.Val220=)
| dbSNP |
2 | g.135833171G>C | CA429093532 | LCT | c.660C>G (p.Val220=)
| |
2 | g.135833171G= | CA1290841289 | LCT | c.660C= (p.Val220=)
| |
2 | g.135833171G>T | CA429093533 | LCT | c.660C>A (p.Val220=)
| |
2 | g.135833172A>C | CA348608838 | LCT | c.659T>G (p.Val220Gly)
| |
2 | g.135833172A>G | CA348608840 | LCT | c.659T>C (p.Val220Ala)
| |
2 | g.135833172A>T | CA348608839 | LCT | c.659T>A (p.Val220Asp)
| |
2 | g.135833173C>A | CA348608841 | LCT | c.658G>T (p.Val220Phe)
| gnomAD v4 |
2 | g.135833173C>G | CA348608843 | LCT | c.658G>C (p.Val220Leu)
| |
2 | g.135833173C>T | CA348608842 | LCT | c.658G>A (p.Val220Ile)
| ClinVar |
2 | g.135833174A= | CA1290841290 | LCT | c.657T= (p.Val219=)
| |
2 | g.135833174A>C | CA429093535 | LCT | c.657T>G (p.Val219=)
| |
2 | g.135833174A>G | CA56636620 | LCT | c.657T>C (p.Val219=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.135833174A>T | CA429093534 | LCT | c.657T>A (p.Val219=)
| |
2 | g.135833175A>C | CA348608846 | LCT | c.656T>G (p.Val219Gly)
| |
2 | g.135833175A>G | CA348608844 | LCT | c.656T>C (p.Val219Ala)
| |
2 | g.135833175A>T | CA348608845 | LCT | c.656T>A (p.Val219Asp)
| |
2 | g.135833176_135833177del | CA2661276704 | LCT | c.655_656del (p.Val219CysfsTer5)
| gnomAD v4 |
2 | g.135833176C>A | CA1888577 | LCT | c.655G>T (p.Val219Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833176C= | CA1290841291 | LCT | c.655G= (p.Val219=)
| |
2 | g.135833176C>G | CA348608847 | LCT | c.655G>C (p.Val219Leu)
| dbSNP |
2 | g.135833176C>T | CA1888576 | LCT | c.655G>A (p.Val219Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833176_135833178delinsCAG | CA1290841292 | LCT | c.653_655delinsCTG (p.Ser218=)
| |
2 | g.135833177A>C | CA429093536 | LCT | c.654T>G (p.Ser218=)
| |
2 | g.135833177A>G | CA429093538 | LCT | c.654T>C (p.Ser218=)
| |
2 | g.135833177A>T | CA429093537 | LCT | c.654T>A (p.Ser218=)
| |
2 | g.135833181_135833182del | CA144323 | LCT | c.653_654del (p.Ser218CysfsTer6)
| ClinVar dbSNP gnomAD v4 |
2 | g.135833178G>A | CA348608848 | LCT | c.653C>T (p.Ser218Phe)
| |
2 | g.135833178G>C | CA348608849 | LCT | c.653C>G (p.Ser218Cys)
| |
2 | g.135833178G>T | CA348608850 | LCT | c.653C>A (p.Ser218Tyr)
| gnomAD v4 |
2 | g.135833179A>C | CA348608851 | LCT | c.652T>G (p.Ser218Ala)
| |
2 | g.135833179A>G | CA348608852 | LCT | c.652T>C (p.Ser218Pro)
| |
2 | g.135833179A>T | CA348608853 | LCT | c.652T>A (p.Ser218Thr)
| |
2 | g.135833180G>A | CA429093539 | LCT | c.651C>T (p.Leu217=)
| |
2 | g.135833180G>C | CA429093540 | LCT | c.651C>G (p.Leu217=)
| ClinVar |
2 | g.135833180G>T | CA429093541 | LCT | c.651C>A (p.Leu217=)
| |
2 | g.135833181A= | CA1290841293 | LCT | c.650T= (p.Leu217=)
| |
2 | g.135833181A>C | CA348608856 | LCT | c.650T>G (p.Leu217Arg)
| dbSNP gnomAD v4 |
2 | g.135833181A>G | CA348608854 | LCT | c.650T>C (p.Leu217Pro)
| |
2 | g.135833181A>T | CA348608855 | LCT | c.650T>A (p.Leu217His)
| |
2 | g.135833182G>A | CA348608857 | LCT | c.649C>T (p.Leu217Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833182G>C | CA1888578 | LCT | c.649C>G (p.Leu217Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135833182G= | CA1290841294 | LCT | c.649C= (p.Leu217=)
| |
2 | g.135833182G>T | CA348608858 | LCT | c.649C>A (p.Leu217Ile)
| |
2 | g.135833183T>A | CA348608859 | LCT | c.648A>T (p.Lys216Asn)
| |
2 | g.135833183T>C | CA429093542 | LCT | c.648A>G (p.Lys216=)
| |
2 | g.135833183T>G | CA348608860 | LCT | c.648A>C (p.Lys216Asn)
| |
2 | g.135833184T>A | CA348608861 | LCT | c.647A>T (p.Lys216Ile)
| |
2 | g.135833184T>C | CA1888579 | LCT | c.647A>G (p.Lys216Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135833184T>G | CA348608862 | LCT | c.647A>C (p.Lys216Thr)
| |
2 | g.135833184T= | CA1290841295 | LCT | c.647A= (p.Lys216=)
| |
2 | g.135833185T>A | CA348608863 | LCT | c.646A>T (p.Lys216Ter)
| |
2 | g.135833185T>C | CA1888580 | LCT | c.646A>G (p.Lys216Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135833185T>G | CA348608864 | LCT | c.646A>C (p.Lys216Gln)
| |
2 | g.135833185T= | CA1290841296 | LCT | c.646A= (p.Lys216=)
| |
2 | g.135833186T>A | CA429093543 | LCT | c.645A>T (p.Gly215=)
| |
2 | g.135833186T>C | CA429093544 | LCT | c.645A>G (p.Gly215=)
| |
2 | g.135833186T>G | CA429093545 | LCT | c.645A>C (p.Gly215=)
| |
2 | g.135833187C>A | CA348608867 | LCT | c.644G>T (p.Gly215Val)
| dbSNP |
2 | g.135833187C= | CA1290841297 | LCT | c.644G= (p.Gly215=)
| |
2 | g.135833187C>G | CA348608866 | LCT | c.644G>C (p.Gly215Ala)
| |
2 | g.135833187C>T | CA348608865 | LCT | c.644G>A (p.Gly215Glu)
| |
2 | g.135833188C>A | CA348608868 | LCT | c.643G>T (p.Gly215Ter)
| dbSNP gnomAD v4 |
2 | g.135833188C= | CA1290841298 | LCT | c.643G= (p.Gly215=)
| |
2 | g.135833188C>G | CA348608869 | LCT | c.643G>C (p.Gly215Arg)
| |
2 | g.135833188C>T | CA10610782 | LCT | c.643G>A (p.Gly215Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.135833189G>A | CA1888582 | LCT | c.642C>T (p.Gly214=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.135833189G>C | CA1888581 | LCT | c.642C>G (p.Gly214=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135833189G= | CA1290841299 | LCT | c.642C= (p.Gly214=)
| |
2 | g.135833189G>T | CA429093546 | LCT | c.642C>A (p.Gly214=)
| gnomAD v4 |
2 | g.135833190C>A | CA348608870 | LCT | c.641G>T (p.Gly214Val)
| |
2 | g.135833190C>G | CA348608871 | LCT | c.641G>C (p.Gly214Ala)
| |
2 | g.135833190C>T | CA348608872 | LCT | c.641G>A (p.Gly214Asp)
| COSMIC |
2 | g.135833191C>A | CA348608873 | LCT | c.641-1G>T (n.641-1G>T)
| |
2 | g.135833191C>G | CA348608874 | LCT | c.641-1G>C (n.641-1G>C)
| |
2 | g.135833191C>T | CA348608875 | LCT | c.641-1G>A (n.641-1G>A)
| gnomAD v4 |
2 | g.135833192T>A | CA348608878 | LCT | c.641-2A>T (n.641-2A>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.135833192T>C | CA348608877 | LCT | c.641-2A>G (n.641-2A>G)
| gnomAD v4 |
2 | g.135833192T>G | CA348608876 | LCT | c.641-2A>C (n.641-2A>C)
| |
2 | g.135833192T= | CA1290841300 | LCT | c.641-2A= (n.641-2A=)
| |
2 | g.135833193G>A | CA1290841302 | LCT | c.641-3C>T (n.641-3C>T)
| dbSNP gnomAD v4 |
2 | g.135833193G= | CA1290841301 | LCT | c.641-3C= (n.641-3C=)
| |
2 | g.135833196A= | CA1290841303 | LCT | c.641-6T= (n.641-6T=)
| |
2 | g.135833196A>G | CA536397308 | LCT | c.641-6T>C (n.641-6T>C)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.135833198C>A | CA2511489501 | LCT | c.641-8G>T (n.641-8G>T)
| |
2 | g.135833199A= | CA1290841304 | LCT | c.641-9T= (n.641-9T=)
| |
2 | g.135833199A>G | CA1888583 | LCT | c.641-9T>C (n.641-9T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135833200A= | CA1290841305 | LCT | c.641-10T= (n.641-10T=)
| |
2 | g.135833200A>G | CA757464885 | LCT | c.641-10T>C (n.641-10T>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.135833201C>T | CA2580063822 | LCT | c.641-11G>A (n.641-11G>A)
| ClinVar gnomAD v4 |
2 | g.135833202C>A | CA2661276705 | LCT | c.641-12G>T (n.641-12G>T)
| gnomAD v4 |
2 | g.135833204G>C | CA2661276706 | LCT | c.641-14C>G (n.641-14C>G)
| gnomAD v4 |
2 | g.135833206G>A | CA2661276707 | LCT | c.641-16C>T (n.641-16C>T)
| gnomAD v4 |
2 | g.135833206G>T | CA2661276708 | LCT | c.641-16C>A (n.641-16C>A)
| gnomAD v4 |
2 | g.135833208C>T | CA2661276709 | LCT | c.641-18G>A (n.641-18G>A)
| dbSNP gnomAD v4 |
2 | g.135833209A= | CA1290841306 | LCT | c.641-19T= (n.641-19T=)
| |
2 | g.135833209A>G | CA757464887 | LCT | c.641-19T>C (n.641-19T>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.135833209A>T | CA2752322937 | LCT | c.641-19T>A (n.641-19T>A)
| |
2 | g.135833210_135833212del | CA2661276710 | LCT | c.641-21_641-19del (n.641-21_641-19del)
| gnomAD v4 |