Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18596819_18596840dup | CA9314068 | CRLF1 | c.856-49_856-28dup (n.856-49_856-28dup) c.321-49_321-28dup c.790-49_790-28dup (n.790-49_790-28dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596819_18596841delinsAGGGCGGGGCCTAGCAGGAGCGG | CA2326432322 | CRLF1 | c.856-51_856-29delinsCCGCTCCTGCTAGGCCCCGCCCT (n.856-51_856-29delinsCCGCTCCTGCTAGGCCCCGCCCT) c.321-51_321-29delinsCCGCTCCTGCTAGGCCCCGCCCT c.790-51_790-29delinsCCGCTCCTGCTAGGCCCCGCCCT (n.790-51_790-29delinsCCGCTCCTGCTAGGCCCCGCCCT) | |
19 | g.18596831_18596852del | CA2326432324 | CRLF1 | c.856-51_856-30del (n.856-51_856-30del) c.321-51_321-30del c.790-51_790-30del (n.790-51_790-30del) | dbSNP gnomAD v4 |
19 | g.18596823C= | CA2326432327 | CRLF1 | c.856-33G= (n.856-33G=) c.321-33G= c.790-33G= (n.790-33G=) | |
19 | g.18596823C>T | CA9314069 | CRLF1 | c.856-33G>A (n.856-33G>A) c.321-33G>A c.790-33G>A (n.790-33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596824G>A | CA9314070 | CRLF1 | c.856-34C>T (n.856-34C>T) c.321-34C>T c.790-34C>T (n.790-34C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596824G= | CA2326432328 | CRLF1 | c.856-34C= (n.856-34C=) c.321-34C= c.790-34C= (n.790-34C=) | |
19 | g.18596826G>A | CA9314071 | CRLF1 | c.856-36C>T (n.856-36C>T) c.321-36C>T c.790-36C>T (n.790-36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596826G>C | CA2581374264 | CRLF1 | c.856-36C>G (n.856-36C>G) c.321-36C>G c.790-36C>G (n.790-36C>G) | |
19 | g.18596826G= | CA2326432329 | CRLF1 | c.856-36C= (n.856-36C=) c.321-36C= c.790-36C= (n.790-36C=) | |
19 | g.18596826G>T | CA2581374263 | CRLF1 | c.856-36C>A (n.856-36C>A) c.321-36C>A c.790-36C>A (n.790-36C>A) | |
19 | g.18596829C>A | CA2576724686 | CRLF1 | c.856-39G>T (n.856-39G>T) c.321-39G>T c.790-39G>T (n.790-39G>T) | |
19 | g.18596830_18596836delinsTAGCAGG | CA2326432330 | CRLF1 | c.856-46_856-40delinsCCTGCTA (n.856-46_856-40delinsCCTGCTA) c.321-46_321-40delinsCCTGCTA c.790-46_790-40delinsCCTGCTA (n.790-46_790-40delinsCCTGCTA) | |
19 | g.18596831A>C | CA2583602737 | CRLF1 | c.856-41T>G (n.856-41T>G) c.321-41T>G c.790-41T>G (n.790-41T>G) | gnomAD v4 |
19 | g.18596831A>G | CA2576724687 | CRLF1 | c.856-41T>C (n.856-41T>C) c.321-41T>C c.790-41T>C (n.790-41T>C) | |
19 | g.18596834_18596839del | CA9314072 | CRLF1 | c.856-46_856-41del (n.856-46_856-41del) c.321-46_321-41del c.790-46_790-41del (n.790-46_790-41del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596832G>A | CA2583602738 | CRLF1 | c.856-42C>T (n.856-42C>T) c.321-42C>T c.790-42C>T (n.790-42C>T) | gnomAD v4 |
19 | g.18596833C>A | CA2576724688 | CRLF1 | c.856-43G>T (n.856-43G>T) c.321-43G>T c.790-43G>T (n.790-43G>T) | |
19 | g.18596833C>T | CA2583602739 | CRLF1 | c.856-43G>A (n.856-43G>A) c.321-43G>A c.790-43G>A (n.790-43G>A) | gnomAD v4 |
19 | g.18596834A>G | CA2583602740 | CRLF1 | c.856-44T>C (n.856-44T>C) c.321-44T>C c.790-44T>C (n.790-44T>C) | gnomAD v4 |
19 | g.18596836G>A | CA632626062 | CRLF1 | c.856-46C>T (n.856-46C>T) c.321-46C>T c.790-46C>T (n.790-46C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596836G>C | CA994214151 | CRLF1 | c.856-46C>G (n.856-46C>G) c.321-46C>G c.790-46C>G (n.790-46C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596836G= | CA2326432331 | CRLF1 | c.856-46C= (n.856-46C=) c.321-46C= c.790-46C= (n.790-46C=) | |
19 | g.18596836G>T | CA2583602741 | CRLF1 | c.856-46C>A (n.856-46C>A) c.321-46C>A c.790-46C>A (n.790-46C>A) | gnomAD v4 |
19 | g.18596837A= | CA2326432332 | CRLF1 | c.856-47T= (n.856-47T=) c.321-47T= c.790-47T= (n.790-47T=) | |
19 | g.18596837A>G | CA2326432333 | CRLF1 | c.856-47T>C (n.856-47T>C) c.321-47T>C c.790-47T>C (n.790-47T>C) | dbSNP gnomAD v4 |
19 | g.18596837A>T | CA2583602742 | CRLF1 | c.856-47T>A (n.856-47T>A) c.321-47T>A c.790-47T>A (n.790-47T>A) | gnomAD v4 |
19 | g.18596838G>A | CA2576724689 | CRLF1 | c.856-48C>T (n.856-48C>T) c.321-48C>T c.790-48C>T (n.790-48C>T) | gnomAD v4 |
19 | g.18596839C>A | CA9314073 | CRLF1 | c.856-49G>T (n.856-49G>T) c.321-49G>T c.790-49G>T (n.790-49G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596839C= | CA2326432334 | CRLF1 | c.856-49G= (n.856-49G=) c.321-49G= c.790-49G= (n.790-49G=) | |
19 | g.18596839C>G | CA2576724690 | CRLF1 | c.856-49G>C (n.856-49G>C) c.321-49G>C c.790-49G>C (n.790-49G>C) | gnomAD v4 |
19 | g.18596839C>T | CA632626063 | CRLF1 | c.856-49G>A (n.856-49G>A) c.321-49G>A c.790-49G>A (n.790-49G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596840G>A | CA9314074 | CRLF1 | c.856-50C>T (n.856-50C>T) c.321-50C>T c.790-50C>T (n.790-50C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596840G= | CA2326432335 | CRLF1 | c.856-50C= (n.856-50C=) c.321-50C= c.790-50C= (n.790-50C=) | |
19 | g.18596840G>T | CA783933627 | CRLF1 | c.856-50C>A (n.856-50C>A) c.321-50C>A c.790-50C>A (n.790-50C>A) | dbSNP gnomAD v4 |
19 | g.18596841G>A | CA306260451 | CRLF1 | c.856-51C>T (n.856-51C>T) c.321-51C>T c.790-51C>T (n.790-51C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596841G= | CA2326432336 | CRLF1 | c.856-51C= (n.856-51C=) c.321-51C= c.790-51C= (n.790-51C=) | |
19 | g.18596848_18596869dup | CA2583602743 | CRLF1 | c.855+30_856-51dup (n.855+30_856-51dup) c.320+30_321-51dup c.789+30_790-51dup (n.789+30_790-51dup) | gnomAD v4 |
19 | g.18596842G>C | CA9314075 | CRLF1 | c.855+50C>G (n.855+50C>G) c.320+50C>G c.789+50C>G (n.789+50C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596842G= | CA2326432337 | CRLF1 | c.855+50C= (n.855+50C=) c.320+50C= c.789+50C= (n.789+50C=) | |
19 | g.18596844G>A | CA9314076 | CRLF1 | c.855+48C>T (n.855+48C>T) c.320+48C>T c.789+48C>T (n.789+48C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596844G= | CA2326432340 | CRLF1 | c.855+48C= (n.855+48C=) c.320+48C= c.789+48C= (n.789+48C=) | |
19 | g.18596844G>T | CA2326432339 | CRLF1 | c.855+48C>A (n.855+48C>A) c.320+48C>A c.789+48C>A (n.789+48C>A) | dbSNP |
19 | g.18596844_18596845delinsGC | CA2326432338 | CRLF1 | c.855+47_855+48delinsGC (n.855+47_855+48delinsGC) c.320+47_320+48delinsGC c.789+47_789+48delinsGC (n.789+47_789+48delinsGC) | |
19 | g.18596845del | CA9314077 | CRLF1 | c.855+47del (n.855+47del) c.320+47del c.789+47del (n.789+47del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596845C= | CA2326432342 | CRLF1 | c.855+47G= (n.855+47G=) c.320+47G= c.789+47G= (n.789+47G=) | |
19 | g.18596845C>G | CA2326432343 | CRLF1 | c.855+47G>C (n.855+47G>C) c.320+47G>C c.789+47G>C (n.789+47G>C) | dbSNP gnomAD v4 |
19 | g.18596845C>T | CA2326432344 | CRLF1 | c.855+47G>A (n.855+47G>A) c.320+47G>A c.789+47G>A (n.789+47G>A) | dbSNP gnomAD v4 |
19 | g.18596845_18596846delinsCG | CA2326432341 | CRLF1 | c.855+46_855+47delinsCG (n.855+46_855+47delinsCG) c.320+46_320+47delinsCG c.789+46_789+47delinsCG (n.789+46_789+47delinsCG) | |
19 | g.18596846G>A | CA783933635 | CRLF1 | c.855+46C>T (n.855+46C>T) c.320+46C>T c.789+46C>T (n.789+46C>T) | dbSNP gnomAD v4 |
19 | g.18596846G= | CA2326432345 | CRLF1 | c.855+46C= (n.855+46C=) c.320+46C= c.789+46C= (n.789+46C=) | |
19 | g.18596849del | CA306260459 | CRLF1 | c.855+46del (n.855+46del) c.320+46del c.789+46del (n.789+46del) | dbSNP |
19 | g.18596847G>T | CA2583602744 | CRLF1 | c.855+45C>A (n.855+45C>A) c.320+45C>A c.789+45C>A (n.789+45C>A) | gnomAD v4 |
19 | g.18596850C>T | CA2583602745 | CRLF1 | c.855+42G>A (n.855+42G>A) c.320+42G>A c.789+42G>A (n.789+42G>A) | gnomAD v4 |
19 | g.18596852_18596856delinsTGGAA | CA2326432346 | CRLF1 | c.855+36_855+40delinsTTCCA (n.855+36_855+40delinsTTCCA) c.320+36_320+40delinsTTCCA c.789+36_789+40delinsTTCCA (n.789+36_789+40delinsTTCCA) | |
19 | g.18596853G>A | CA2326432347 | CRLF1 | c.855+39C>T (n.855+39C>T) c.320+39C>T c.789+39C>T (n.789+39C>T) | dbSNP gnomAD v4 |
19 | g.18596853G= | CA2326432348 | CRLF1 | c.855+39C= (n.855+39C=) c.320+39C= c.789+39C= (n.789+39C=) | |
19 | g.18596857_18596860del | CA9314078 | CRLF1 | c.855+36_855+39del (n.855+36_855+39del) c.320+36_320+39del c.789+36_789+39del (n.789+36_789+39del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596854G>A | CA2576724691 | CRLF1 | c.855+38C>T (n.855+38C>T) c.320+38C>T c.789+38C>T (n.789+38C>T) | |
19 | g.18596855A= | CA2326432349 | CRLF1 | c.855+37T= (n.855+37T=) c.320+37T= c.789+37T= (n.789+37T=) | |
19 | g.18596855A>G | CA9314079 | CRLF1 | c.855+37T>C (n.855+37T>C) c.320+37T>C c.789+37T>C (n.789+37T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596856del | CA2576724692 | CRLF1 | c.855+37del (n.855+37del) c.320+37del c.789+37del (n.789+37del) | gnomAD v4 |
19 | g.18596856A>G | CA2576724693 | CRLF1 | c.855+36T>C (n.855+36T>C) c.320+36T>C c.789+36T>C (n.789+36T>C) | |
19 | g.18596857G= | CA2326432350 | CRLF1 | c.855+35C= (n.855+35C=) c.320+35C= c.789+35C= (n.789+35C=) | |
19 | g.18596857G>T | CA306260461 | CRLF1 | c.855+35C>A (n.855+35C>A) c.320+35C>A c.789+35C>A (n.789+35C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596858G>C | CA9314080 | CRLF1 | c.855+34C>G (n.855+34C>G) c.320+34C>G c.789+34C>G (n.789+34C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596858G= | CA2326432351 | CRLF1 | c.855+34C= (n.855+34C=) c.320+34C= c.789+34C= (n.789+34C=) | |
19 | g.18596859A= | CA2326432352 | CRLF1 | c.855+33T= (n.855+33T=) c.320+33T= c.789+33T= (n.789+33T=) | |
19 | g.18596859A>T | CA783933659 | CRLF1 | c.855+33T>A (n.855+33T>A) c.320+33T>A c.789+33T>A (n.789+33T>A) | dbSNP |
19 | g.18596861C>G | CA2576724694 | CRLF1 | c.855+31G>C (n.855+31G>C) c.320+31G>C c.789+31G>C (n.789+31G>C) | gnomAD v4 |
19 | g.18596861_18596862delinsCA | CA2326432353 | CRLF1 | c.855+30_855+31delinsTG (n.855+30_855+31delinsTG) c.320+30_320+31delinsTG c.789+30_789+31delinsTG (n.789+30_789+31delinsTG) | |
19 | g.18596861_18596863delinsCAG | CA2326432354 | CRLF1 | c.855+29_855+31delinsCTG (n.855+29_855+31delinsCTG) c.320+29_320+31delinsCTG c.789+29_789+31delinsCTG (n.789+29_789+31delinsCTG) | |
19 | g.18596862del | CA632626064 | CRLF1 | c.855+30del (n.855+30del) c.320+30del c.789+30del (n.789+30del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596862_18596863del | CA632626065 | CRLF1 | c.855+29_855+30del (n.855+29_855+30del) c.320+29_320+30del c.789+29_789+30del (n.789+29_789+30del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596866dup | CA2842542655 | CRLF1 | c.855+29dup (n.855+29dup) c.320+29dup c.789+29dup (n.789+29dup) | |
19 | g.18596864G>A | CA9314081 | CRLF1 | c.855+28C>T (n.855+28C>T) c.320+28C>T c.789+28C>T (n.789+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596864G= | CA2326432355 | CRLF1 | c.855+28C= (n.855+28C=) c.320+28C= c.789+28C= (n.789+28C=) | |
19 | g.18596865G>A | CA9314082 | CRLF1 | c.855+27C>T (n.855+27C>T) c.320+27C>T c.789+27C>T (n.789+27C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596865G= | CA2326432356 | CRLF1 | c.855+27C= (n.855+27C=) c.320+27C= c.789+27C= (n.789+27C=) | |
19 | g.18596867C>A | CA2583602747 | CRLF1 | c.855+25G>T (n.855+25G>T) c.320+25G>T c.789+25G>T (n.789+25G>T) | dbSNP gnomAD v4 |
19 | g.18596867C= | CA2326432357 | CRLF1 | c.855+25G= (n.855+25G=) c.320+25G= c.789+25G= (n.789+25G=) | |
19 | g.18596867C>G | CA2583602748 | CRLF1 | c.855+25G>C (n.855+25G>C) c.320+25G>C c.789+25G>C (n.789+25G>C) | gnomAD v4 |
19 | g.18596867C>T | CA9314083 | CRLF1 | c.855+25G>A (n.855+25G>A) c.320+25G>A c.789+25G>A (n.789+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596868G>A | CA2326432359 | CRLF1 | c.855+24C>T (n.855+24C>T) c.320+24C>T c.789+24C>T (n.789+24C>T) | dbSNP gnomAD v4 |
19 | g.18596868G= | CA2326432358 | CRLF1 | c.855+24C= (n.855+24C=) c.320+24C= c.789+24C= (n.789+24C=) | |
19 | g.18596869G>A | CA306260467 | CRLF1 | c.855+23C>T (n.855+23C>T) c.320+23C>T c.789+23C>T (n.789+23C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596869G= | CA2326432360 | CRLF1 | c.855+23C= (n.855+23C=) c.320+23C= c.789+23C= (n.789+23C=) | |
19 | g.18596871G>C | CA9314084 | CRLF1 | c.855+21C>G (n.855+21C>G) c.320+21C>G c.789+21C>G (n.789+21C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596871G= | CA2326432361 | CRLF1 | c.855+21C= (n.855+21C=) c.320+21C= c.789+21C= (n.789+21C=) | |
19 | g.18596873C>A | CA2813827719 | CRLF1 | c.855+19G>T (n.855+19G>T) c.320+19G>T c.789+19G>T (n.789+19G>T) | |
19 | g.18596875G>C | CA2583602749 | CRLF1 | c.855+17C>G (n.855+17C>G) c.320+17C>G c.789+17C>G (n.789+17C>G) | gnomAD v4 |
19 | g.18596876G>A | CA9314085 | CRLF1 | c.855+16C>T (n.855+16C>T) c.320+16C>T c.789+16C>T (n.789+16C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596876G= | CA2326432362 | CRLF1 | c.855+16C= (n.855+16C=) c.320+16C= c.789+16C= (n.789+16C=) | |
19 | g.18596876G>T | CA2583602751 | CRLF1 | c.855+16C>A (n.855+16C>A) c.320+16C>A c.789+16C>A (n.789+16C>A) | gnomAD v4 |
19 | g.18596877G>A | CA783933670 | CRLF1 | c.855+15C>T (n.855+15C>T) c.320+15C>T c.789+15C>T (n.789+15C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596877G>C | CA2583603055 | CRLF1 | c.855+15C>G (n.855+15C>G) c.320+15C>G c.789+15C>G (n.789+15C>G) | gnomAD v4 |
19 | g.18596877G= | CA2326432363 | CRLF1 | c.855+15C= (n.855+15C=) c.320+15C= c.789+15C= (n.789+15C=) | |
19 | g.18596878A>T | CA2576724695 | CRLF1 | c.855+14T>A (n.855+14T>A) c.320+14T>A c.789+14T>A (n.789+14T>A) | |
19 | g.18596879A>C | CA2813827720 | CRLF1 | c.855+13T>G (n.855+13T>G) c.320+13T>G c.789+13T>G (n.789+13T>G) | |
19 | g.18596879A>T | CA2576724696 | CRLF1 | c.855+13T>A (n.855+13T>A) c.320+13T>A c.789+13T>A (n.789+13T>A) | gnomAD v4 |
19 | g.18596880G>A | CA9314086 | CRLF1 | c.855+12C>T (n.855+12C>T) c.320+12C>T c.789+12C>T (n.789+12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596880G= | CA2326432364 | CRLF1 | c.855+12C= (n.855+12C=) c.320+12C= c.789+12C= (n.789+12C=) | |
19 | g.18596880G>T | CA2583603056 | CRLF1 | c.855+12C>A (n.855+12C>A) c.320+12C>A c.789+12C>A (n.789+12C>A) | gnomAD v4 |
19 | g.18596881G>A | CA9314087 | CRLF1 | c.855+11C>T (n.855+11C>T) c.320+11C>T c.789+11C>T (n.789+11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596881G>C | CA2581374266 | CRLF1 | c.855+11C>G (n.855+11C>G) c.320+11C>G c.789+11C>G (n.789+11C>G) | |
19 | g.18596881G= | CA2326432365 | CRLF1 | c.855+11C= (n.855+11C=) c.320+11C= c.789+11C= (n.789+11C=) | |
19 | g.18596881G>T | CA2581374265 | CRLF1 | c.855+11C>A (n.855+11C>A) c.320+11C>A c.789+11C>A (n.789+11C>A) | |
19 | g.18596882G>A | CA2326432367 | CRLF1 | c.855+10C>T (n.855+10C>T) c.320+10C>T c.789+10C>T (n.789+10C>T) | dbSNP |
19 | g.18596882G= | CA2326432366 | CRLF1 | c.855+10C= (n.855+10C=) c.320+10C= c.789+10C= (n.789+10C=) | |
19 | g.18596883G>C | CA2583603057 | CRLF1 | c.855+9C>G (n.855+9C>G) c.320+9C>G c.789+9C>G (n.789+9C>G) | gnomAD v4 |
19 | g.18596884A>C | CA2735788286 | CRLF1 | c.855+8T>G (n.855+8T>G) c.320+8T>G c.789+8T>G (n.789+8T>G) | dbSNP |
19 | g.18596885G>A | CA2576724697 | CRLF1 | c.855+7C>T (n.855+7C>T) c.320+7C>T c.789+7C>T (n.789+7C>T) | gnomAD v4 |
19 | g.18596886G>A | CA9314088 | CRLF1 | c.855+6C>T (n.855+6C>T) c.320+6C>T c.789+6C>T (n.789+6C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596886G= | CA2326432368 | CRLF1 | c.855+6C= (n.855+6C=) c.320+6C= c.789+6C= (n.789+6C=) | |
19 | g.18596887G>A | CA783933674 | CRLF1 | c.855+5C>T (n.855+5C>T) c.320+5C>T c.789+5C>T (n.789+5C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596887G= | CA2326432369 | CRLF1 | c.855+5C= (n.855+5C=) c.320+5C= c.789+5C= (n.789+5C=) | |
19 | g.18596890A= | CA2326432370 | CRLF1 | c.855+2T= (n.855+2T=) c.320+2T= c.789+2T= (n.789+2T=) | |
19 | g.18596890A>C | CA9314089 | CRLF1 | c.855+2T>G (n.855+2T>G) c.320+2T>G c.789+2T>G (n.789+2T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596890A>G | CA404850782 | CRLF1 | c.855+2T>C (n.855+2T>C) c.320+2T>C c.789+2T>C (n.789+2T>C) | |
19 | g.18596890A>T | CA404850781 | CRLF1 | c.855+2T>A (n.855+2T>A) c.320+2T>A c.789+2T>A (n.789+2T>A) | |
19 | g.18596891C>A | CA404850783 | CRLF1 | c.855+1G>T (n.855+1G>T) c.320+1G>T c.789+1G>T (n.789+1G>T) | |
19 | g.18596891C>G | CA404850784 | CRLF1 | c.855+1G>C (n.855+1G>C) c.320+1G>C c.789+1G>C (n.789+1G>C) | |
19 | g.18596891C>T | CA404850785 | CRLF1 | c.855+1G>A (n.855+1G>A) c.320+1G>A c.789+1G>A (n.789+1G>A) | |
19 | g.18596892C>A | CA404850786 | CRLF1 | c.855G>T (p.Lys285Asn) c.320G>T c.789G>T (p.Lys263Asn) | |
19 | g.18596892C= | CA2326432371 | CRLF1 | c.855G= (p.Lys285=) c.320G= c.789G= (p.Lys263=) | |
19 | g.18596892C>G | CA404850787 | CRLF1 | c.855G>C (p.Lys285Asn) c.320G>C c.789G>C (p.Lys263Asn) | |
19 | g.18596892C>T | CA506116468 | CRLF1 | c.855G>A (p.Lys285=) c.320G>A c.789G>A (p.Lys263=) | dbSNP gnomAD v2 |
19 | g.18596892_18596893delinsCT | CA2326432372 | CRLF1 | c.854_855delinsAG (p.Lys285=) c.319_320delinsAG c.788_789delinsAG (p.Lys263=) | |
19 | g.18596893T>A | CA404850790 | CRLF1 | c.854A>T (p.Lys285Met) c.319A>T c.788A>T (p.Lys263Met) | |
19 | g.18596893T>C | CA404850789 | CRLF1 | c.854A>G (p.Lys285Arg) c.319A>G c.788A>G (p.Lys263Arg) | |
19 | g.18596893T>G | CA404850788 | CRLF1 | c.854A>C (p.Lys285Thr) c.319A>C c.788A>C (p.Lys263Thr) | |
19 | g.18596894del | CA632626066 | CRLF1 | c.854del (p.Lys285ArgfsTer6) c.319del c.788del (p.Lys263ArgfsTer6) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596894T>A | CA404850791 | CRLF1 | c.853A>T (p.Lys285Ter) c.318A>T c.787A>T (p.Lys263Ter) | |
19 | g.18596894T>C | CA404850792 | CRLF1 | c.853A>G (p.Lys285Glu) c.318A>G c.787A>G (p.Lys263Glu) | gnomAD v4 |
19 | g.18596894T>G | CA404850793 | CRLF1 | c.853A>C (p.Lys285Gln) c.318A>C c.787A>C (p.Lys263Gln) | |
19 | g.18596895C>A | CA342070 | CRLF1 | c.852G>T (p.Trp284Cys) c.317G>T c.786G>T (p.Trp262Cys) | dbSNP |
19 | g.18596895C= | CA2326432373 | CRLF1 | c.852G= (p.Trp284=) c.317G= c.786G= (p.Trp262=) | |
19 | g.18596895C>G | CA404850794 | CRLF1 | c.852G>C (p.Trp284Cys) c.317G>C c.786G>C (p.Trp262Cys) | |
19 | g.18596895C>T | CA404850795 | CRLF1 | c.852G>A (p.Trp284Ter) c.317G>A c.786G>A (p.Trp262Ter) | COSMIC |
19 | g.18596896C>A | CA404850798 | CRLF1 | c.851G>T (p.Trp284Leu) c.316G>T c.785G>T (p.Trp262Leu) | |
19 | g.18596896C>G | CA404850796 | CRLF1 | c.851G>C (p.Trp284Ser) c.316G>C c.785G>C (p.Trp262Ser) | |
19 | g.18596896C>T | CA404850797 | CRLF1 | c.851G>A (p.Trp284Ter) c.316G>A c.785G>A (p.Trp262Ter) | gnomAD v4 |
19 | g.18596897A>C | CA404850799 | CRLF1 | c.850T>G (p.Trp284Gly) c.315T>G c.784T>G (p.Trp262Gly) | |
19 | g.18596897A>G | CA404850800 | CRLF1 | c.850T>C (p.Trp284Arg) c.315T>C c.784T>C (p.Trp262Arg) | |
19 | g.18596897A>T | CA404850801 | CRLF1 | c.850T>A (p.Trp284Arg) c.315T>A c.784T>A (p.Trp262Arg) | |
19 | g.18596898G>A | CA506116478 | CRLF1 | c.849C>T (p.Asp283=) c.314C>T c.783C>T (p.Asp261=) | gnomAD v4 |
19 | g.18596898G>C | CA404850802 | CRLF1 | c.849C>G (p.Asp283Glu) c.314C>G c.783C>G (p.Asp261Glu) | |
19 | g.18596898G>T | CA404850803 | CRLF1 | c.849C>A (p.Asp283Glu) c.314C>A c.783C>A (p.Asp261Glu) | |
19 | g.18596899T>A | CA404850804 | CRLF1 | c.848A>T (p.Asp283Val) c.313A>T c.782A>T (p.Asp261Val) | |
19 | g.18596899T>C | CA404850805 | CRLF1 | c.848A>G (p.Asp283Gly) c.313A>G c.782A>G (p.Asp261Gly) | |
19 | g.18596899T>G | CA404850806 | CRLF1 | c.848A>C (p.Asp283Ala) c.313A>C c.782A>C (p.Asp261Ala) | |
19 | g.18596904_18596915del | CA2583603058 | CRLF1 | c.837_848del (p.Glu279_Val282del) c.302_313del c.771_782del (p.Glu257_Val260del) | gnomAD v4 |
19 | g.18596900C>A | CA404850807 | CRLF1 | c.847G>T (p.Asp283Tyr) c.312G>T c.781G>T (p.Asp261Tyr) | dbSNP |
19 | g.18596900C= | CA2326432375 | CRLF1 | c.847G= (p.Asp283=) c.312G= c.781G= (p.Asp261=) | |
19 | g.18596900C>G | CA404850808 | CRLF1 | c.847G>C (p.Asp283His) c.312G>C c.781G>C (p.Asp261His) | |
19 | g.18596900C>T | CA404850809 | CRLF1 | c.847G>A (p.Asp283Asn) c.312G>A c.781G>A (p.Asp261Asn) | |
19 | g.18596900_18596902delinsCCA | CA2326432374 | CRLF1 | c.845_847delinsTGG (p.Val282=) c.310_312delinsTGG c.779_781delinsTGG (p.Val260=) | |
19 | g.18596901C>A | CA506116482 | CRLF1 | c.846G>T (p.Val282=) c.311G>T c.780G>T (p.Val260=) | |
19 | g.18596901C= | CA2326432376 | CRLF1 | c.846G= (p.Val282=) c.311G= c.780G= (p.Val260=) | |
19 | g.18596901C>G | CA506116485 | CRLF1 | c.846G>C (p.Val282=) c.311G>C c.780G>C (p.Val260=) | gnomAD v4 |
19 | g.18596901C>T | CA506116487 | CRLF1 | c.846G>A (p.Val282=) c.311G>A c.780G>A (p.Val260=) | dbSNP COSMIC |
19 | g.18596904_18596905del | CA340449 | CRLF1 | c.845_846del (p.Val282GlyfsTer?) c.310_311del c.779_780del (p.Val260GlyfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596902A= | CA2326432377 | CRLF1 | c.845T= (p.Val282=) c.310T= c.779T= (p.Val260=) | |
19 | g.18596902A>C | CA404850810 | CRLF1 | c.845T>G (p.Val282Gly) c.310T>G c.779T>G (p.Val260Gly) | |
19 | g.18596902A>G | CA404850811 | CRLF1 | c.845T>C (p.Val282Ala) c.310T>C c.779T>C (p.Val260Ala) | |
19 | g.18596902A>T | CA9314090 | CRLF1 | c.845T>A (p.Val282Glu) c.310T>A c.779T>A (p.Val260Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596903C>A | CA404850812 | CRLF1 | c.844G>T (p.Val282Leu) c.309G>T c.778G>T (p.Val260Leu) | |
19 | g.18596903C= | CA2326432378 | CRLF1 | c.844G= (p.Val282=) c.309G= c.778G= (p.Val260=) | |
19 | g.18596903C>G | CA404850813 | CRLF1 | c.844G>C (p.Val282Leu) c.309G>C c.778G>C (p.Val260Leu) | |
19 | g.18596903C>T | CA404850814 | CRLF1 | c.844G>A (p.Val282Met) c.309G>A c.778G>A (p.Val260Met) | dbSNP gnomAD v4 |
19 | g.18596904A= | CA2326432379 | CRLF1 | c.843T= (p.Ser281=) c.308T= c.777T= (p.Ser259=) | |
19 | g.18596904A>C | CA404850815 | CRLF1 | c.843T>G (p.Ser281Arg) c.308T>G c.777T>G (p.Ser259Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596904A>G | CA506116488 | CRLF1 | c.843T>C (p.Ser281=) c.308T>C c.777T>C (p.Ser259=) | |
19 | g.18596904A>T | CA404850816 | CRLF1 | c.843T>A (p.Ser281Arg) c.308T>A c.777T>A (p.Ser259Arg) | |
19 | g.18596905C>A | CA404850817 | CRLF1 | c.842G>T (p.Ser281Ile) c.307G>T c.776G>T (p.Ser259Ile) | |
19 | g.18596905C= | CA2326432380 | CRLF1 | c.842G= (p.Ser281=) c.307G= c.776G= (p.Ser259=) | |
19 | g.18596905C>G | CA404850818 | CRLF1 | c.842G>C (p.Ser281Thr) c.307G>C c.776G>C (p.Ser259Thr) | gnomAD v4 |
19 | g.18596905C>T | CA404850819 | CRLF1 | c.842G>A (p.Ser281Asn) c.307G>A c.776G>A (p.Ser259Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596906T>A | CA404850820 | CRLF1 | c.841A>T (p.Ser281Cys) c.306A>T c.775A>T (p.Ser259Cys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596906T>C | CA9314091 | CRLF1 | c.841A>G (p.Ser281Gly) c.306A>G c.775A>G (p.Ser259Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596906T>G | CA404850821 | CRLF1 | c.841A>C (p.Ser281Arg) c.306A>C c.775A>C (p.Ser259Arg) | |
19 | g.18596906T= | CA2326432381 | CRLF1 | c.841A= (p.Ser281=) c.306A= c.775A= (p.Ser259=) | |
19 | g.18596907G>A | CA506116493 | CRLF1 | c.840C>T (p.Asp280=) c.305C>T c.774C>T (p.Asp258=) | gnomAD v4 |
19 | g.18596907G>C | CA404850822 | CRLF1 | c.840C>G (p.Asp280Glu) c.305C>G c.774C>G (p.Asp258Glu) | gnomAD v4 |
19 | g.18596907G>T | CA404850823 | CRLF1 | c.840C>A (p.Asp280Glu) c.305C>A c.774C>A (p.Asp258Glu) | |
19 | g.18596908T>A | CA404850824 | CRLF1 | c.839A>T (p.Asp280Val) c.304A>T c.773A>T (p.Asp258Val) | |
19 | g.18596908T>C | CA404850826 | CRLF1 | c.839A>G (p.Asp280Gly) c.304A>G c.773A>G (p.Asp258Gly) | |
19 | g.18596908T>G | CA404850825 | CRLF1 | c.839A>C (p.Asp280Ala) c.304A>C c.773A>C (p.Asp258Ala) | gnomAD v4 |
19 | g.18596909C>A | CA404850827 | CRLF1 | c.838G>T (p.Asp280Tyr) c.303G>T c.772G>T (p.Asp258Tyr) | |
19 | g.18596909C>G | CA404850828 | CRLF1 | c.838G>C (p.Asp280His) c.303G>C c.772G>C (p.Asp258His) | |
19 | g.18596909C>T | CA404850829 | CRLF1 | c.838G>A (p.Asp280Asn) c.303G>A c.772G>A (p.Asp258Asn) | |
19 | g.18596910C>A | CA404850830 | CRLF1 | c.837G>T (p.Glu279Asp) c.302G>T c.771G>T (p.Glu257Asp) | |
19 | g.18596910C= | CA2326432382 | CRLF1 | c.837G= (p.Glu279=) c.302G= c.771G= (p.Glu257=) | |
19 | g.18596910C>G | CA404850831 | CRLF1 | c.837G>C (p.Glu279Asp) c.302G>C c.771G>C (p.Glu257Asp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596910C>T | CA506116498 | CRLF1 | c.837G>A (p.Glu279=) c.302G>A c.771G>A (p.Glu257=) | gnomAD v4 |
19 | g.18596910_18596911insACTA | CA2583603059 | CRLF1 | c.836_837insTAGT (p.Glu279AspfsTer?) c.301_302insTAGT c.770_771insTAGT (p.Glu257AspfsTer?) | gnomAD v4 |
19 | g.18596911T>A | CA404850832 | CRLF1 | c.836A>T (p.Glu279Val) c.301A>T c.770A>T (p.Glu257Val) | |
19 | g.18596911T>C | CA404850833 | CRLF1 | c.836A>G (p.Glu279Gly) c.301A>G c.770A>G (p.Glu257Gly) | |
19 | g.18596911T>G | CA404850834 | CRLF1 | c.836A>C (p.Glu279Ala) c.301A>C c.770A>C (p.Glu257Ala) | |
19 | g.18596912C>A | CA404850835 | CRLF1 | c.835G>T (p.Glu279Ter) c.300G>T c.769G>T (p.Glu257Ter) | |
19 | g.18596912C= | CA2326432383 | CRLF1 | c.835G= (p.Glu279=) c.300G= c.769G= (p.Glu257=) | |
19 | g.18596912C>G | CA404850836 | CRLF1 | c.835G>C (p.Glu279Gln) c.300G>C c.769G>C (p.Glu257Gln) | |
19 | g.18596912C>T | CA404850837 | CRLF1 | c.835G>A (p.Glu279Lys) c.300G>A c.769G>A (p.Glu257Lys) | dbSNP |
19 | g.18596913C>A | CA506116321 | CRLF1 | c.834G>T (p.Val278=) c.299G>T c.768G>T (p.Val256=) | |
19 | g.18596913C= | CA2326432384 | CRLF1 | c.834G= (p.Val278=) c.299G= c.768G= (p.Val256=) | |
19 | g.18596913C>G | CA506116320 | CRLF1 | c.834G>C (p.Val278=) c.299G>C c.768G>C (p.Val256=) | |
19 | g.18596913C>T | CA9314092 | CRLF1 | c.834G>A (p.Val278=) c.299G>A c.768G>A (p.Val256=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596914del | CA2576724698 | CRLF1 | c.833del (p.Val278GlyfsTer13) c.298del c.767del (p.Val256GlyfsTer13) | |
19 | g.18596914A= | CA2326432385 | CRLF1 | c.833T= (p.Val278=) c.298T= c.767T= (p.Val256=) | |
19 | g.18596914A>C | CA404850839 | CRLF1 | c.833T>G (p.Val278Gly) c.298T>G c.767T>G (p.Val256Gly) | |
19 | g.18596914A>G | CA404850838 | CRLF1 | c.833T>C (p.Val278Ala) c.298T>C c.767T>C (p.Val256Ala) | gnomAD v4 |
19 | g.18596914A>T | CA404850840 | CRLF1 | c.833T>A (p.Val278Glu) c.298T>A c.767T>A (p.Val256Glu) | dbSNP |
19 | g.18596915_18596926del | CA2741617714 | CRLF1 | c.822_833del (p.Ile274_Val278delinsMet) c.287_298del c.756_767del (p.Ile252_Val256delinsMet) | |
19 | g.18596915C>A | CA404850841 | CRLF1 | c.832G>T (p.Val278Leu) c.297G>T c.766G>T (p.Val256Leu) | |
19 | g.18596915C= | CA2326432386 | CRLF1 | c.832G= (p.Val278=) c.297G= c.766G= (p.Val256=) | |
19 | g.18596915C>G | CA404850843 | CRLF1 | c.832G>C (p.Val278Leu) c.297G>C c.766G>C (p.Val256Leu) | gnomAD v4 |
19 | g.18596915C>T | CA404850842 | CRLF1 | c.832G>A (p.Val278Met) c.297G>A c.766G>A (p.Val256Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596916T>A | CA506116324 | CRLF1 | c.831A>T (p.Arg277=) c.296A>T c.765A>T (p.Arg255=) | |
19 | g.18596916T>C | CA506116326 | CRLF1 | c.831A>G (p.Arg277=) c.296A>G c.765A>G (p.Arg255=) | |
19 | g.18596916T>G | CA506116325 | CRLF1 | c.831A>C (p.Arg277=) c.296A>C c.765A>C (p.Arg255=) | |
19 | g.18596916T= | CA2326432387 | CRLF1 | c.831A= (p.Arg277=) c.296A= c.765A= (p.Arg255=) | |
19 | g.18596917_18596920del | CA2695228415 | CRLF1 | c.828_831del (p.Tyr276Ter) c.293_296del c.762_765del (p.Tyr254Ter) | |
19 | g.18596917C>A | CA404850844 | CRLF1 | c.830G>T (p.Arg277Leu) c.295G>T c.764G>T (p.Arg255Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596917C= | CA2326432389 | CRLF1 | c.830G= (p.Arg277=) c.295G= c.764G= (p.Arg255=) | |
19 | g.18596917C>G | CA404850845 | CRLF1 | c.830G>C (p.Arg277Pro) c.295G>C c.764G>C (p.Arg255Pro) | |
19 | g.18596917C>T | CA9314093 | CRLF1 | c.830G>A (p.Arg277Gln) c.295G>A c.764G>A (p.Arg255Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596917_18596918del | CA645614568 | CRLF1 | c.829_830del (p.Arg277SerfsTer?) c.294_295del c.763_764del (p.Arg255SerfsTer?) | COSMIC |
19 | g.18596917_18596918delinsCG | CA2326432390 | CRLF1 | c.829_830delinsCG (p.Arg277=) c.294_295delinsCG c.763_764delinsCG (p.Arg255=) | |
19 | g.18596920_18596925dup | CA2326432388 | CRLF1 | c.825_830dup (p.Arg277_Val278insTyrArg) c.290_295dup c.759_764dup (p.Arg255_Val256insTyrArg) | dbSNP |
19 | g.18596918G>A | CA253577 | CRLF1 | c.829C>T (p.Arg277Ter) c.294C>T c.763C>T (p.Arg255Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596918G>C | CA9314094 | CRLF1 | c.829C>G (p.Arg277Gly) c.294C>G c.763C>G (p.Arg255Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596918G= | CA2326432391 | CRLF1 | c.829C= (p.Arg277=) c.294C= c.763C= (p.Arg255=) | |
19 | g.18596918G>T | CA506116328 | CRLF1 | c.829C>A (p.Arg277=) c.294C>A c.763C>A (p.Arg255=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596919del | CA915952926 | CRLF1 | c.829del (p.Arg277GlufsTer14) c.294del c.763del (p.Arg255GlufsTer14) | ClinVar dbSNP |
19 | g.18596919G>A | CA9314095 | CRLF1 | c.828C>T (p.Tyr276=) c.293C>T c.762C>T (p.Tyr254=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596919G>C | CA404850846 | CRLF1 | c.828C>G (p.Tyr276Ter) c.293C>G c.762C>G (p.Tyr254Ter) | gnomAD v4 |
19 | g.18596919G= | CA2326432392 | CRLF1 | c.828C= (p.Tyr276=) c.293C= c.762C= (p.Tyr254=) | |
19 | g.18596919G>T | CA404850847 | CRLF1 | c.828C>A (p.Tyr276Ter) c.293C>A c.762C>A (p.Tyr254Ter) | |
19 | g.18596920T>A | CA404850848 | CRLF1 | c.827A>T (p.Tyr276Phe) c.292A>T c.761A>T (p.Tyr254Phe) | |
19 | g.18596920T>C | CA404850849 | CRLF1 | c.827A>G (p.Tyr276Cys) c.292A>G c.761A>G (p.Tyr254Cys) | COSMIC |
19 | g.18596920T>G | CA404850850 | CRLF1 | c.827A>C (p.Tyr276Ser) c.292A>C c.761A>C (p.Tyr254Ser) | |
19 | g.18596921A>C | CA404850851 | CRLF1 | c.826T>G (p.Tyr276Asp) c.291T>G c.760T>G (p.Tyr254Asp) | |
19 | g.18596921A>G | CA404850852 | CRLF1 | c.826T>C (p.Tyr276His) c.291T>C c.760T>C (p.Tyr254His) | |
19 | g.18596921A>T | CA404850853 | CRLF1 | c.826T>A (p.Tyr276Asn) c.291T>A c.760T>A (p.Tyr254Asn) | |
19 | g.18596922G>A | CA506116331 | CRLF1 | c.825C>T (p.Arg275=) c.290C>T c.759C>T (p.Arg253=) | gnomAD v4 |
19 | g.18596922G>C | CA506116332 | CRLF1 | c.825C>G (p.Arg275=) c.290C>G c.759C>G (p.Arg253=) | gnomAD v4 |
19 | g.18596922G>T | CA506116333 | CRLF1 | c.825C>A (p.Arg275=) c.290C>A c.759C>A (p.Arg253=) | |
19 | g.18596923C>A | CA404850855 | CRLF1 | c.824G>T (p.Arg275Leu) c.289G>T c.758G>T (p.Arg253Leu) | gnomAD v4 |
19 | g.18596923C= | CA2326432393 | CRLF1 | c.824G= (p.Arg275=) c.289G= c.758G= (p.Arg253=) | |
19 | g.18596923C>G | CA404850854 | CRLF1 | c.824G>C (p.Arg275Pro) c.289G>C c.758G>C (p.Arg253Pro) | ClinVar |
19 | g.18596923C>T | CA9314096 | CRLF1 | c.824G>A (p.Arg275His) c.289G>A c.758G>A (p.Arg253His) | dbSNP ExAC gnomAD v2 gnomAD v4 |