Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18599481_18599488dup | CA2583603639 | CRLF1 | c.397+82_397+89dup (n.397+82_397+89dup) c.331+82_331+89dup (n.331+82_331+89dup) | gnomAD v4 |
19 | g.18599485G>A | CA783935865 | CRLF1 | c.397+80C>T (n.397+80C>T) c.331+80C>T (n.331+80C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18599485G= | CA2326433723 | CRLF1 | c.397+80C= (n.397+80C=) c.331+80C= (n.331+80C=) | |
19 | g.18599486G>A | CA2838279094 | CRLF1 | c.397+79C>T (n.397+79C>T) c.331+79C>T (n.331+79C>T) | |
19 | g.18599486G>C | CA2576724789 | CRLF1 | c.397+79C>G (n.397+79C>G) c.331+79C>G (n.331+79C>G) | gnomAD v4 |
19 | g.18599487C>T | CA2583603642 | CRLF1 | c.397+78G>A (n.397+78G>A) c.331+78G>A (n.331+78G>A) | gnomAD v4 |
19 | g.18599489C>A | CA2583603643 | CRLF1 | c.397+76G>T (n.397+76G>T) c.331+76G>T (n.331+76G>T) | gnomAD v4 |
19 | g.18599491C>A | CA2842542704 | CRLF1 | c.397+74G>T (n.397+74G>T) c.331+74G>T (n.331+74G>T) | |
19 | g.18599491C= | CA2326433724 | CRLF1 | c.397+74G= (n.397+74G=) c.331+74G= (n.331+74G=) | |
19 | g.18599491C>T | CA2326433725 | CRLF1 | c.397+74G>A (n.397+74G>A) c.331+74G>A (n.331+74G>A) | dbSNP gnomAD v4 |
19 | g.18599493A= | CA2326433726 | CRLF1 | c.397+72T= (n.397+72T=) c.331+72T= (n.331+72T=) | |
19 | g.18599493A>G | CA994215377 | CRLF1 | c.397+72T>C (n.397+72T>C) c.331+72T>C (n.331+72T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18599495T>C | CA2583603644 | CRLF1 | c.397+70A>G (n.397+70A>G) c.331+70A>G (n.331+70A>G) | gnomAD v4 |
19 | g.18599496C>T | CA2583603645 | CRLF1 | c.397+69G>A (n.397+69G>A) c.331+69G>A (n.331+69G>A) | gnomAD v4 |
19 | g.18599497A>T | CA2583603646 | CRLF1 | c.397+68T>A (n.397+68T>A) c.331+68T>A (n.331+68T>A) | gnomAD v4 |
19 | g.18599498T>C | CA2576724790 | CRLF1 | c.397+67A>G (n.397+67A>G) c.331+67A>G (n.331+67A>G) | |
19 | g.18599499G>A | CA2583603647 | CRLF1 | c.397+66C>T (n.397+66C>T) c.331+66C>T (n.331+66C>T) | gnomAD v4 |
19 | g.18599499G>C | CA2583603648 | CRLF1 | c.397+66C>G (n.397+66C>G) c.331+66C>G (n.331+66C>G) | gnomAD v4 |
19 | g.18599499G>T | CA2842542705 | CRLF1 | c.397+66C>A (n.397+66C>A) c.331+66C>A (n.331+66C>A) | |
19 | g.18599500C>A | CA2583603650 | CRLF1 | c.397+65G>T (n.397+65G>T) c.331+65G>T (n.331+65G>T) | gnomAD v4 |
19 | g.18599500C= | CA2326433727 | CRLF1 | c.397+65G= (n.397+65G=) c.331+65G= (n.331+65G=) | |
19 | g.18599500C>T | CA306262106 | CRLF1 | c.397+65G>A (n.397+65G>A) c.331+65G>A (n.331+65G>A) | dbSNP |
19 | g.18599501del | CA2583603649 | CRLF1 | c.397+65del (n.397+65del) c.331+65del (n.331+65del) | gnomAD v4 |
19 | g.18599501C>A | CA2583603652 | CRLF1 | c.397+64G>T (n.397+64G>T) c.331+64G>T (n.331+64G>T) | gnomAD v4 |
19 | g.18599504_18599507del | CA2583603651 | CRLF1 | c.397+61_397+64del (n.397+61_397+64del) c.331+61_331+64del (n.331+61_331+64del) | gnomAD v4 |
19 | g.18599502T>A | CA2583603653 | CRLF1 | c.397+63A>T (n.397+63A>T) c.331+63A>T (n.331+63A>T) | gnomAD v4 |
19 | g.18599502T>C | CA2583603654 | CRLF1 | c.397+63A>G (n.397+63A>G) c.331+63A>G (n.331+63A>G) | gnomAD v4 |
19 | g.18599503C= | CA2326433728 | CRLF1 | c.397+62G= (n.397+62G=) c.331+62G= (n.331+62G=) | |
19 | g.18599503C>T | CA306262109 | CRLF1 | c.397+62G>A (n.397+62G>A) c.331+62G>A (n.331+62G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599504A= | CA2326433730 | CRLF1 | c.397+61T= (n.397+61T=) c.331+61T= (n.331+61T=) | |
19 | g.18599504A>G | CA2326433729 | CRLF1 | c.397+61T>C (n.397+61T>C) c.331+61T>C (n.331+61T>C) | dbSNP gnomAD v4 |
19 | g.18599507C>A | CA2842542706 | CRLF1 | c.397+58G>T (n.397+58G>T) c.331+58G>T (n.331+58G>T) | |
19 | g.18599508C= | CA2326433732 | CRLF1 | c.397+57G= (n.397+57G=) c.331+57G= (n.331+57G=) | |
19 | g.18599508C>T | CA2326433731 | CRLF1 | c.397+57G>A (n.397+57G>A) c.331+57G>A (n.331+57G>A) | dbSNP gnomAD v4 |
19 | g.18599510G>C | CA2583603655 | CRLF1 | c.397+55C>G (n.397+55C>G) c.331+55C>G (n.331+55C>G) | gnomAD v4 |
19 | g.18599512G>A | CA306262110 | CRLF1 | c.397+53C>T (n.397+53C>T) c.331+53C>T (n.331+53C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18599512G= | CA2326433733 | CRLF1 | c.397+53C= (n.397+53C=) c.331+53C= (n.331+53C=) | |
19 | g.18599512G>T | CA2576724791 | CRLF1 | c.397+53C>A (n.397+53C>A) c.331+53C>A (n.331+53C>A) | |
19 | g.18599513G>A | CA994215380 | CRLF1 | c.397+52C>T (n.397+52C>T) c.331+52C>T (n.331+52C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18599513G>C | CA2583603656 | CRLF1 | c.397+52C>G (n.397+52C>G) c.331+52C>G (n.331+52C>G) | gnomAD v4 |
19 | g.18599513G= | CA2326433734 | CRLF1 | c.397+52C= (n.397+52C=) c.331+52C= (n.331+52C=) | |
19 | g.18599513G>T | CA306262114 | CRLF1 | c.397+52C>A (n.397+52C>A) c.331+52C>A (n.331+52C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18599514G>A | CA2583603657 | CRLF1 | c.397+51C>T (n.397+51C>T) c.331+51C>T (n.331+51C>T) | gnomAD v4 |
19 | g.18599514G>C | CA2583603658 | CRLF1 | c.397+51C>G (n.397+51C>G) c.331+51C>G (n.331+51C>G) | gnomAD v4 |
19 | g.18599516G>A | CA2583603659 | CRLF1 | c.397+49C>T (n.397+49C>T) c.331+49C>T (n.331+49C>T) | gnomAD v4 |
19 | g.18599517A= | CA2326433735 | CRLF1 | c.397+48T= (n.397+48T=) c.331+48T= (n.331+48T=) | |
19 | g.18599517A>C | CA9314259 | CRLF1 | c.397+48T>G (n.397+48T>G) c.331+48T>G (n.331+48T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18599518T>A | CA2583603660 | CRLF1 | c.397+47A>T (n.397+47A>T) c.331+47A>T (n.331+47A>T) | gnomAD v4 |
19 | g.18599519G>A | CA2583603661 | CRLF1 | c.397+46C>T (n.397+46C>T) c.331+46C>T (n.331+46C>T) | gnomAD v4 |
19 | g.18599520C= | CA2326433736 | CRLF1 | c.397+45G= (n.397+45G=) c.331+45G= (n.331+45G=) | |
19 | g.18599520C>T | CA2326433737 | CRLF1 | c.397+45G>A (n.397+45G>A) c.331+45G>A (n.331+45G>A) | dbSNP gnomAD v4 |
19 | g.18599521C= | CA2326433738 | CRLF1 | c.397+44G= (n.397+44G=) c.331+44G= (n.331+44G=) | |
19 | g.18599521C>T | CA9314260 | CRLF1 | c.397+44G>A (n.397+44G>A) c.331+44G>A (n.331+44G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599522G>A | CA306262147 | CRLF1 | c.397+43C>T (n.397+43C>T) c.331+43C>T (n.331+43C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18599522G= | CA2326433739 | CRLF1 | c.397+43C= (n.397+43C=) c.331+43C= (n.331+43C=) | |
19 | g.18599522G>T | CA2583603662 | CRLF1 | c.397+43C>A (n.397+43C>A) c.331+43C>A (n.331+43C>A) | gnomAD v4 |
19 | g.18599524T>C | CA632626398 | CRLF1 | c.397+41A>G (n.397+41A>G) c.331+41A>G (n.331+41A>G) | dbSNP gnomAD v2 |
19 | g.18599524T= | CA2326433740 | CRLF1 | c.397+41A= (n.397+41A=) c.331+41A= (n.331+41A=) | |
19 | g.18599525C>T | CA2583603663 | CRLF1 | c.397+40G>A (n.397+40G>A) c.331+40G>A (n.331+40G>A) | gnomAD v4 |
19 | g.18599527del | CA2842542707 | CRLF1 | c.397+40del (n.397+40del) c.331+40del (n.331+40del) | |
19 | g.18599527C>A | CA2813827917 | CRLF1 | c.397+38G>T (n.397+38G>T) c.331+38G>T (n.331+38G>T) | |
19 | g.18599528A= | CA2326433741 | CRLF1 | c.397+37T= (n.397+37T=) c.331+37T= (n.331+37T=) | |
19 | g.18599528A>C | CA632626399 | CRLF1 | c.397+37T>G (n.397+37T>G) c.331+37T>G (n.331+37T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599528A>G | CA2583603664 | CRLF1 | c.397+37T>C (n.397+37T>C) c.331+37T>C (n.331+37T>C) | gnomAD v4 |
19 | g.18599529A= | CA2326433742 | CRLF1 | c.397+36T= (n.397+36T=) c.331+36T= (n.331+36T=) | |
19 | g.18599529A>C | CA2576724792 | CRLF1 | c.397+36T>G (n.397+36T>G) c.331+36T>G (n.331+36T>G) | gnomAD v4 |
19 | g.18599529A>G | CA2326433743 | CRLF1 | c.397+36T>C (n.397+36T>C) c.331+36T>C (n.331+36T>C) | dbSNP |
19 | g.18599530G>C | CA9314262 | CRLF1 | c.397+35C>G (n.397+35C>G) c.331+35C>G (n.331+35C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18599530G= | CA2326433744 | CRLF1 | c.397+35C= (n.397+35C=) c.331+35C= (n.331+35C=) | |
19 | g.18599530G>T | CA9314261 | CRLF1 | c.397+35C>A (n.397+35C>A) c.331+35C>A (n.331+35C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18599531A= | CA2326433745 | CRLF1 | c.397+34T= (n.397+34T=) c.331+34T= (n.331+34T=) | |
19 | g.18599531A>G | CA2326433746 | CRLF1 | c.397+34T>C (n.397+34T>C) c.331+34T>C (n.331+34T>C) | dbSNP |
19 | g.18599532G>C | CA2813827918 | CRLF1 | c.397+33C>G (n.397+33C>G) c.331+33C>G (n.331+33C>G) | |
19 | g.18599533C= | CA2326433747 | CRLF1 | c.397+32G= (n.397+32G=) c.331+32G= (n.331+32G=) | |
19 | g.18599533C>G | CA632626400 | CRLF1 | c.397+32G>C (n.397+32G>C) c.331+32G>C (n.331+32G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18599533C>T | CA306262171 | CRLF1 | c.397+32G>A (n.397+32G>A) c.331+32G>A (n.331+32G>A) | dbSNP |
19 | g.18599534T>C | CA2326433748 | CRLF1 | c.397+31A>G (n.397+31A>G) c.331+31A>G (n.331+31A>G) | dbSNP |
19 | g.18599534T= | CA2326433749 | CRLF1 | c.397+31A= (n.397+31A=) c.331+31A= (n.331+31A=) | |
19 | g.18599534dup | CA632626401 | CRLF1 | c.397+31dup (n.397+31dup) c.331+31dup (n.331+31dup) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18599534_18599536delinsTAC | CA2326433750 | CRLF1 | c.397+29_397+31delinsGTA (n.397+29_397+31delinsGTA) c.331+29_331+31delinsGTA (n.331+29_331+31delinsGTA) | |
19 | g.18599535A= | CA2326433751 | CRLF1 | c.397+30T= (n.397+30T=) c.331+30T= (n.331+30T=) | |
19 | g.18599535A>C | CA2326433752 | CRLF1 | c.397+30T>G (n.397+30T>G) c.331+30T>G (n.331+30T>G) | dbSNP |
19 | g.18599535A>G | CA2583603665 | CRLF1 | c.397+30T>C (n.397+30T>C) c.331+30T>C (n.331+30T>C) | gnomAD v4 |
19 | g.18599535dup | CA2583603666 | CRLF1 | c.397+30dup (n.397+30dup) c.331+30dup (n.331+30dup) | gnomAD v4 |
19 | g.18599535_18599536del | CA9314263 | CRLF1 | c.397+29_397+30del (n.397+29_397+30del) c.331+29_331+30del (n.331+29_331+30del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18599536C= | CA2326433753 | CRLF1 | c.397+29G= (n.397+29G=) c.331+29G= (n.331+29G=) | |
19 | g.18599536C>T | CA783935881 | CRLF1 | c.397+29G>A (n.397+29G>A) c.331+29G>A (n.331+29G>A) | dbSNP gnomAD v4 |
19 | g.18599537C>A | CA2583603668 | CRLF1 | c.397+28G>T (n.397+28G>T) c.331+28G>T (n.331+28G>T) | gnomAD v4 |
19 | g.18599537_18599542del | CA2583603667 | CRLF1 | c.397+23_397+28del (n.397+23_397+28del) c.331+23_331+28del (n.331+23_331+28del) | gnomAD v4 |
19 | g.18599538C= | CA2326433754 | CRLF1 | c.397+27G= (n.397+27G=) c.331+27G= (n.331+27G=) | |
19 | g.18599538C>G | CA632626402 | CRLF1 | c.397+27G>C (n.397+27G>C) c.331+27G>C (n.331+27G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599539C>G | CA2583603669 | CRLF1 | c.397+26G>C (n.397+26G>C) c.331+26G>C (n.331+26G>C) | gnomAD v4 |
19 | g.18599540_18599541delinsTG | CA2326433755 | CRLF1 | c.397+24_397+25delinsCA (n.397+24_397+25delinsCA) c.331+24_331+25delinsCA (n.331+24_331+25delinsCA) | |
19 | g.18599544dup | CA2842542708 | CRLF1 | c.397+24dup (n.397+24dup) c.331+24dup (n.331+24dup) | |
19 | g.18599544del | CA783935887 | CRLF1 | c.397+24del (n.397+24del) c.331+24del (n.331+24del) | dbSNP |
19 | g.18599542G>A | CA306262188 | CRLF1 | c.397+23C>T (n.397+23C>T) c.331+23C>T (n.331+23C>T) | dbSNP |
19 | g.18599542G= | CA2326433756 | CRLF1 | c.397+23C= (n.397+23C=) c.331+23C= (n.331+23C=) | |
19 | g.18599543G>A | CA2326433758 | CRLF1 | c.397+22C>T (n.397+22C>T) c.331+22C>T (n.331+22C>T) | dbSNP gnomAD v4 |
19 | g.18599543G>C | CA2583603670 | CRLF1 | c.397+22C>G (n.397+22C>G) c.331+22C>G (n.331+22C>G) | gnomAD v4 |
19 | g.18599543G= | CA2326433757 | CRLF1 | c.397+22C= (n.397+22C=) c.331+22C= (n.331+22C=) | |
19 | g.18599543G>T | CA2568514489 | CRLF1 | c.397+22C>A (n.397+22C>A) c.331+22C>A (n.331+22C>A) | gnomAD v4 |
19 | g.18599544G>A | CA783935889 | CRLF1 | c.397+21C>T (n.397+21C>T) c.331+21C>T (n.331+21C>T) | dbSNP |
19 | g.18599544G= | CA2326433759 | CRLF1 | c.397+21C= (n.397+21C=) c.331+21C= (n.331+21C=) | |
19 | g.18599544G>T | CA2576724793 | CRLF1 | c.397+21C>A (n.397+21C>A) c.331+21C>A (n.331+21C>A) | gnomAD v4 |
19 | g.18599545T>A | CA9314264 | CRLF1 | c.397+20A>T (n.397+20A>T) c.331+20A>T (n.331+20A>T) | dbSNP ExAC gnomAD v2 |
19 | g.18599545T= | CA2326433760 | CRLF1 | c.397+20A= (n.397+20A=) c.331+20A= (n.331+20A=) | |
19 | g.18599546dup | CA2583603671 | CRLF1 | c.397+19dup (n.397+19dup) c.331+19dup (n.331+19dup) | gnomAD v4 |
19 | g.18599547T>C | CA9314265 | CRLF1 | c.397+18A>G (n.397+18A>G) c.331+18A>G (n.331+18A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599547T= | CA2326433761 | CRLF1 | c.397+18A= (n.397+18A=) c.331+18A= (n.331+18A=) | |
19 | g.18599549C>T | CA2813827919 | CRLF1 | c.397+16G>A (n.397+16G>A) c.331+16G>A (n.331+16G>A) | |
19 | g.18599550T>C | CA9314266 | CRLF1 | c.397+15A>G (n.397+15A>G) c.331+15A>G (n.331+15A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18599550T= | CA2326433762 | CRLF1 | c.397+15A= (n.397+15A=) c.331+15A= (n.331+15A=) | |
19 | g.18599551G>A | CA2326433764 | CRLF1 | c.397+14C>T (n.397+14C>T) c.331+14C>T (n.331+14C>T) | dbSNP |
19 | g.18599551G= | CA2326433763 | CRLF1 | c.397+14C= (n.397+14C=) c.331+14C= (n.331+14C=) | |
19 | g.18599552G>A | CA632626403 | CRLF1 | c.397+13C>T (n.397+13C>T) c.331+13C>T (n.331+13C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18599552G= | CA2326433765 | CRLF1 | c.397+13C= (n.397+13C=) c.331+13C= (n.331+13C=) | |
19 | g.18599553G>C | CA2583603672 | CRLF1 | c.397+12C>G (n.397+12C>G) c.331+12C>G (n.331+12C>G) | gnomAD v4 |
19 | g.18599556C= | CA2326433766 | CRLF1 | c.397+9G= (n.397+9G=) c.331+9G= (n.331+9G=) | |
19 | g.18599556C>T | CA915952927 | CRLF1 | c.397+9G>A (n.397+9G>A) c.331+9G>A (n.331+9G>A) | ClinVar dbSNP |
19 | g.18599556_18599557insGGGGGG | CA2847632236 | CRLF1 | c.397+8_397+9insCCCCCC (n.397+8_397+9insCCCCCC) c.331+8_331+9insCCCCCC (n.331+8_331+9insCCCCCC) | |
19 | g.18599557C>G | CA2583603673 | CRLF1 | c.397+8G>C (n.397+8G>C) c.331+8G>C (n.331+8G>C) | gnomAD v4 |
19 | g.18599558A= | CA2326433767 | CRLF1 | c.397+7T= (n.397+7T=) c.331+7T= (n.331+7T=) | |
19 | g.18599558A>C | CA632626404 | CRLF1 | c.397+7T>G (n.397+7T>G) c.331+7T>G (n.331+7T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599558A>G | CA2583603674 | CRLF1 | c.397+7T>C (n.397+7T>C) c.331+7T>C (n.331+7T>C) | gnomAD v4 |
19 | g.18599559A>C | CA2583603675 | CRLF1 | c.397+6T>G (n.397+6T>G) c.331+6T>G (n.331+6T>G) | gnomAD v4 |
19 | g.18599560C>T | CA2583603676 | CRLF1 | c.397+5G>A (n.397+5G>A) c.331+5G>A (n.331+5G>A) | gnomAD v4 |
19 | g.18599561T>C | CA2326433768 | CRLF1 | c.397+4A>G (n.397+4A>G) c.331+4A>G (n.331+4A>G) | dbSNP |
19 | g.18599561T= | CA2326433769 | CRLF1 | c.397+4A= (n.397+4A=) c.331+4A= (n.331+4A=) | |
19 | g.18599562T= | CA2326433770 | CRLF1 | c.397+3A= (n.397+3A=) c.331+3A= (n.331+3A=) | |
19 | g.18599563A>C | CA404851789 | CRLF1 | c.397+2T>G (n.397+2T>G) c.331+2T>G (n.331+2T>G) | |
19 | g.18599563A>G | CA404851790 | CRLF1 | c.397+2T>C (n.397+2T>C) c.331+2T>C (n.331+2T>C) | |
19 | g.18599563A>T | CA404851791 | CRLF1 | c.397+2T>A (n.397+2T>A) c.331+2T>A (n.331+2T>A) | |
19 | g.18599563dup | CA632626405 | CRLF1 | c.397+2dup (n.397+2dup) c.331+2dup (n.331+2dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599564C>A | CA404851792 | CRLF1 | c.397+1G>T (n.397+1G>T) c.331+1G>T (n.331+1G>T) | |
19 | g.18599564C= | CA2326433771 | CRLF1 | c.397+1G= (n.397+1G=) c.331+1G= (n.331+1G=) | |
19 | g.18599564C>G | CA404851793 | CRLF1 | c.397+1G>C (n.397+1G>C) c.331+1G>C (n.331+1G>C) | |
19 | g.18599564C>T | CA342063 | CRLF1 | c.397+1G>A (n.397+1G>A) c.331+1G>A (n.331+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18599565G>A | CA9314267 | CRLF1 | c.397C>T (p.Leu133=) c.331C>T (p.Leu111=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599565G>C | CA404851795 | CRLF1 | c.397C>G (p.Leu133Val) c.331C>G (p.Leu111Val) | |
19 | g.18599565G= | CA2326433772 | CRLF1 | c.397C= (p.Leu133=) c.331C= (p.Leu111=) | |
19 | g.18599565G>T | CA404851794 | CRLF1 | c.397C>A (p.Leu133Met) c.331C>A (p.Leu111Met) | |
19 | g.18599566G>A | CA506044548 | CRLF1 | c.396C>T (p.Gly132=) c.330C>T (p.Gly110=) | gnomAD v4 |
19 | g.18599566G>C | CA506044546 | CRLF1 | c.396C>G (p.Gly132=) c.330C>G (p.Gly110=) | |
19 | g.18599566G>T | CA506044547 | CRLF1 | c.396C>A (p.Gly132=) c.330C>A (p.Gly110=) | |
19 | g.18599567C>A | CA404851796 | CRLF1 | c.395G>T (p.Gly132Val) c.329G>T (p.Gly110Val) | COSMIC |
19 | g.18599567C= | CA2326433773 | CRLF1 | c.395G= (p.Gly132=) c.329G= (p.Gly110=) | |
19 | g.18599567C>G | CA404851797 | CRLF1 | c.395G>C (p.Gly132Ala) c.329G>C (p.Gly110Ala) | |
19 | g.18599567C>T | CA306262194 | CRLF1 | c.395G>A (p.Gly132Asp) c.329G>A (p.Gly110Asp) | ClinVar dbSNP gnomAD v4 |
19 | g.18599568C>A | CA404851798 | CRLF1 | c.394G>T (p.Gly132Cys) c.328G>T (p.Gly110Cys) | |
19 | g.18599568C>G | CA404851799 | CRLF1 | c.394G>C (p.Gly132Arg) c.328G>C (p.Gly110Arg) | |
19 | g.18599568C>T | CA404851800 | CRLF1 | c.394G>A (p.Gly132Ser) c.328G>A (p.Gly110Ser) | gnomAD v4 |
19 | g.18599569A>C | CA506044549 | CRLF1 | c.393T>G (p.Val131=) c.327T>G (p.Val109=) | |
19 | g.18599569A>G | CA506044550 | CRLF1 | c.393T>C (p.Val131=) c.327T>C (p.Val109=) | |
19 | g.18599569A>T | CA506044551 | CRLF1 | c.393T>A (p.Val131=) c.327T>A (p.Val109=) | |
19 | g.18599570dup | CA2583603677 | CRLF1 | c.393dup (p.Gly132TrpfsTer?) c.327dup (p.Gly110TrpfsTer?) | gnomAD v4 |
19 | g.18599570A>C | CA404851803 | CRLF1 | c.392T>G (p.Val131Gly) c.326T>G (p.Val109Gly) | |
19 | g.18599570A>G | CA404851801 | CRLF1 | c.392T>C (p.Val131Ala) c.326T>C (p.Val109Ala) | |
19 | g.18599570A>T | CA404851802 | CRLF1 | c.392T>A (p.Val131Asp) c.326T>A (p.Val109Asp) | |
19 | g.18599571C>A | CA404851804 | CRLF1 | c.391G>T (p.Val131Phe) c.325G>T (p.Val109Phe) | |
19 | g.18599571C= | CA2326433774 | CRLF1 | c.391G= (p.Val131=) c.325G= (p.Val109=) | |
19 | g.18599571C>G | CA9314268 | CRLF1 | c.391G>C (p.Val131Leu) c.325G>C (p.Val109Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599571C>T | CA404851805 | CRLF1 | c.391G>A (p.Val131Ile) c.325G>A (p.Val109Ile) | dbSNP |
19 | g.18599572A= | CA2326433775 | CRLF1 | c.390T= (p.Tyr130=) c.324T= (p.Tyr108=) | |
19 | g.18599572A>C | CA404851806 | CRLF1 | c.390T>G (p.Tyr130Ter) c.324T>G (p.Tyr108Ter) | |
19 | g.18599572A>G | CA306262201 | CRLF1 | c.390T>C (p.Tyr130=) c.324T>C (p.Tyr108=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18599572A>T | CA404851807 | CRLF1 | c.390T>A (p.Tyr130Ter) c.324T>A (p.Tyr108Ter) | |
19 | g.18599573T>A | CA404851808 | CRLF1 | c.389A>T (p.Tyr130Phe) c.323A>T (p.Tyr108Phe) | |
19 | g.18599573T>C | CA404851810 | CRLF1 | c.389A>G (p.Tyr130Cys) c.323A>G (p.Tyr108Cys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18599573T>G | CA404851809 | CRLF1 | c.389A>C (p.Tyr130Ser) c.323A>C (p.Tyr108Ser) | |
19 | g.18599573T= | CA2326433776 | CRLF1 | c.389A= (p.Tyr130=) c.323A= (p.Tyr108=) | |
19 | g.18599574A>C | CA404851811 | CRLF1 | c.388T>G (p.Tyr130Asp) c.322T>G (p.Tyr108Asp) | |
19 | g.18599574A>G | CA404851812 | CRLF1 | c.388T>C (p.Tyr130His) c.322T>C (p.Tyr108His) | |
19 | g.18599574A>T | CA404851813 | CRLF1 | c.388T>A (p.Tyr130Asn) c.322T>A (p.Tyr108Asn) | |
19 | g.18599575G>A | CA506044552 | CRLF1 | c.387C>T (p.Leu129=) c.321C>T (p.Leu107=) | |
19 | g.18599575G>C | CA506044553 | CRLF1 | c.387C>G (p.Leu129=) c.321C>G (p.Leu107=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18599575G= | CA2326433777 | CRLF1 | c.387C= (p.Leu129=) c.321C= (p.Leu107=) | |
19 | g.18599575G>T | CA506044554 | CRLF1 | c.387C>A (p.Leu129=) c.321C>A (p.Leu107=) | |
19 | g.18599576A>C | CA404851814 | CRLF1 | c.386T>G (p.Leu129Arg) c.320T>G (p.Leu107Arg) | |
19 | g.18599576A>G | CA404851815 | CRLF1 | c.386T>C (p.Leu129Pro) c.320T>C (p.Leu107Pro) | |
19 | g.18599576A>T | CA404851816 | CRLF1 | c.386T>A (p.Leu129His) c.320T>A (p.Leu107His) | |
19 | g.18599578_18599588dup | CA2583603678 | CRLF1 | c.376_386dup (p.Tyr130AlafsTer23) c.310_320dup (p.Tyr108AlafsTer23) | gnomAD v4 |
19 | g.18599577G>A | CA404851817 | CRLF1 | c.385C>T (p.Leu129Phe) c.319C>T (p.Leu107Phe) | |
19 | g.18599577G>C | CA404851818 | CRLF1 | c.385C>G (p.Leu129Val) c.319C>G (p.Leu107Val) | |
19 | g.18599577G>T | CA404851819 | CRLF1 | c.385C>A (p.Leu129Ile) c.319C>A (p.Leu107Ile) | |
19 | g.18599578del | CA2741617212 | CRLF1 | c.385del (p.Leu129SerfsTer20) c.319del (p.Leu107SerfsTer20) | |
19 | g.18599578G>A | CA506044555 | CRLF1 | c.384C>T (p.Cys128=) c.318C>T (p.Cys106=) | COSMIC |
19 | g.18599578G>C | CA404851820 | CRLF1 | c.384C>G (p.Cys128Trp) c.318C>G (p.Cys106Trp) | |
19 | g.18599578G>T | CA404851821 | CRLF1 | c.384C>A (p.Cys128Ter) c.318C>A (p.Cys106Ter) | |
19 | g.18599579C>A | CA404851823 | CRLF1 | c.383G>T (p.Cys128Phe) c.317G>T (p.Cys106Phe) | |
19 | g.18599579C= | CA2326433778 | CRLF1 | c.383G= (p.Cys128=) c.317G= (p.Cys106=) | |
19 | g.18599579C>G | CA404851824 | CRLF1 | c.383G>C (p.Cys128Ser) c.317G>C (p.Cys106Ser) | |
19 | g.18599579C>T | CA404851822 | CRLF1 | c.383G>A (p.Cys128Tyr) c.317G>A (p.Cys106Tyr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18599580A= | CA2326433779 | CRLF1 | c.382T= (p.Cys128=) c.316T= (p.Cys106=) | |
19 | g.18599580A>C | CA404851825 | CRLF1 | c.382T>G (p.Cys128Gly) c.316T>G (p.Cys106Gly) | gnomAD v4 |
19 | g.18599580A>G | CA9314269 | CRLF1 | c.382T>C (p.Cys128Arg) c.316T>C (p.Cys106Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18599580A>T | CA404851826 | CRLF1 | c.382T>A (p.Cys128Ser) c.316T>A (p.Cys106Ser) | |
19 | g.18599581G>A | CA506044556 | CRLF1 | c.381C>T (p.Ser127=) c.315C>T (p.Ser105=) | |
19 | g.18599581G>C | CA506044557 | CRLF1 | c.381C>G (p.Ser127=) c.315C>G (p.Ser105=) | |
19 | g.18599581G>T | CA506044558 | CRLF1 | c.381C>A (p.Ser127=) c.315C>A (p.Ser105=) | |
19 | g.18599582G>A | CA404851827 | CRLF1 | c.380C>T (p.Ser127Phe) c.314C>T (p.Ser105Phe) | gnomAD v4 COSMIC |
19 | g.18599582G>C | CA404851829 | CRLF1 | c.380C>G (p.Ser127Cys) c.314C>G (p.Ser105Cys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18599582G= | CA2326433780 | CRLF1 | c.380C= (p.Ser127=) c.314C= (p.Ser105=) | |
19 | g.18599582G>T | CA404851828 | CRLF1 | c.380C>A (p.Ser127Tyr) c.314C>A (p.Ser105Tyr) | dbSNP |
19 | g.18599583A>C | CA404851830 | CRLF1 | c.379T>G (p.Ser127Ala) c.313T>G (p.Ser105Ala) | |
19 | g.18599583A>G | CA404851831 | CRLF1 | c.379T>C (p.Ser127Pro) c.313T>C (p.Ser105Pro) | |
19 | g.18599583A>T | CA404851832 | CRLF1 | c.379T>A (p.Ser127Thr) c.313T>A (p.Ser105Thr) | |
19 | g.18599584G>A | CA506044559 | CRLF1 | c.378C>T (p.Gly126=) c.312C>T (p.Gly104=) | |
19 | g.18599584G>C | CA506044560 | CRLF1 | c.378C>G (p.Gly126=) c.312C>G (p.Gly104=) | |
19 | g.18599584G>T | CA506044561 | CRLF1 | c.378C>A (p.Gly126=) c.312C>A (p.Gly104=) |