Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18596721C>A | CA306260329 | CRLF1 | c.925G>T (p.Val309Leu) c.390G>T c.859G>T (p.Val287Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596721C= | CA2326432272 | CRLF1 | c.925G= (p.Val309=) c.390G= c.859G= (p.Val287=) | |
19 | g.18596721C>G | CA404850630 | CRLF1 | c.925G>C (p.Val309Leu) c.390G>C c.859G>C (p.Val287Leu) | |
19 | g.18596721C>T | CA404850631 | CRLF1 | c.925G>A (p.Val309Met) c.390G>A c.859G>A (p.Val287Met) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596722G>A | CA506116367 | CRLF1 | c.924C>T (p.Phe308=) c.389C>T c.858C>T (p.Phe286=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596722G>C | CA404850632 | CRLF1 | c.924C>G (p.Phe308Leu) c.389C>G c.858C>G (p.Phe286Leu) | |
19 | g.18596722G= | CA2326432273 | CRLF1 | c.924C= (p.Phe308=) c.389C= c.858C= (p.Phe286=) | |
19 | g.18596722G>T | CA404850633 | CRLF1 | c.924C>A (p.Phe308Leu) c.389C>A c.858C>A (p.Phe286Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596722dup | CA2583602660 | CRLF1 | c.924dup (p.Val309ArgfsTer21) c.389dup c.858dup (p.Val287ArgfsTer21) | gnomAD v4 |
19 | g.18596723A>C | CA404850634 | CRLF1 | c.923T>G (p.Phe308Cys) c.388T>G c.857T>G (p.Phe286Cys) | |
19 | g.18596723A>G | CA404850636 | CRLF1 | c.923T>C (p.Phe308Ser) c.388T>C c.857T>C (p.Phe286Ser) | |
19 | g.18596723A>T | CA404850635 | CRLF1 | c.923T>A (p.Phe308Tyr) c.388T>A c.857T>A (p.Phe286Tyr) | |
19 | g.18596724A= | CA2326432274 | CRLF1 | c.922T= (p.Phe308=) c.387T= c.856T= (p.Phe286=) | |
19 | g.18596724A>C | CA404850637 | CRLF1 | c.922T>G (p.Phe308Val) c.387T>G c.856T>G (p.Phe286Val) | gnomAD v4 |
19 | g.18596724A>G | CA404850639 | CRLF1 | c.922T>C (p.Phe308Leu) c.387T>C c.856T>C (p.Phe286Leu) | dbSNP gnomAD v4 |
19 | g.18596724A>T | CA404850638 | CRLF1 | c.922T>A (p.Phe308Ile) c.387T>A c.856T>A (p.Phe286Ile) | |
19 | g.18596725G>A | CA506116368 | CRLF1 | c.921C>T (p.Tyr307=) c.386C>T c.855C>T (p.Tyr285=) | |
19 | g.18596725G>C | CA404850640 | CRLF1 | c.921C>G (p.Tyr307Ter) c.386C>G c.855C>G (p.Tyr285Ter) | |
19 | g.18596725G>T | CA404850641 | CRLF1 | c.921C>A (p.Tyr307Ter) c.386C>A c.855C>A (p.Tyr285Ter) | |
19 | g.18596726T>A | CA404850642 | CRLF1 | c.920A>T (p.Tyr307Phe) c.385A>T c.854A>T (p.Tyr285Phe) | |
19 | g.18596726T>C | CA404850644 | CRLF1 | c.920A>G (p.Tyr307Cys) c.385A>G c.854A>G (p.Tyr285Cys) | |
19 | g.18596726T>G | CA404850643 | CRLF1 | c.920A>C (p.Tyr307Ser) c.385A>C c.854A>C (p.Tyr285Ser) | |
19 | g.18596727A>C | CA404850645 | CRLF1 | c.919T>G (p.Tyr307Asp) c.384T>G c.853T>G (p.Tyr285Asp) | |
19 | g.18596727A>G | CA404850646 | CRLF1 | c.919T>C (p.Tyr307His) c.384T>C c.853T>C (p.Tyr285His) | gnomAD v4 |
19 | g.18596727A>T | CA404850647 | CRLF1 | c.919T>A (p.Tyr307Asn) c.384T>A c.853T>A (p.Tyr285Asn) | |
19 | g.18596728C>A | CA506116370 | CRLF1 | c.918G>T (p.Val306=) c.383G>T c.852G>T (p.Val284=) | |
19 | g.18596728C>G | CA506116372 | CRLF1 | c.918G>C (p.Val306=) c.383G>C c.852G>C (p.Val284=) | gnomAD v4 |
19 | g.18596728C>T | CA506116371 | CRLF1 | c.918G>A (p.Val306=) c.383G>A c.852G>A (p.Val284=) | |
19 | g.18596729A>C | CA404850648 | CRLF1 | c.917T>G (p.Val306Gly) c.382T>G c.851T>G (p.Val284Gly) | |
19 | g.18596729A>G | CA404850649 | CRLF1 | c.917T>C (p.Val306Ala) c.382T>C c.851T>C (p.Val284Ala) | COSMIC |
19 | g.18596729A>T | CA404850650 | CRLF1 | c.917T>A (p.Val306Glu) c.382T>A c.851T>A (p.Val284Glu) | |
19 | g.18596730C>A | CA404850651 | CRLF1 | c.916G>T (p.Val306Leu) c.381G>T c.850G>T (p.Val284Leu) | dbSNP gnomAD v4 |
19 | g.18596730C= | CA2326432275 | CRLF1 | c.916G= (p.Val306=) c.381G= c.850G= (p.Val284=) | |
19 | g.18596730C>G | CA404850652 | CRLF1 | c.916G>C (p.Val306Leu) c.381G>C c.850G>C (p.Val284Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596730C>T | CA9314050 | CRLF1 | c.916G>A (p.Val306Met) c.381G>A c.850G>A (p.Val284Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596731G>A | CA506116373 | CRLF1 | c.915C>T (p.Thr305=) c.380C>T c.849C>T (p.Thr283=) | gnomAD v4 |
19 | g.18596731G>C | CA506116374 | CRLF1 | c.915C>G (p.Thr305=) c.380C>G c.849C>G (p.Thr283=) | gnomAD v4 |
19 | g.18596731G>T | CA506116375 | CRLF1 | c.915C>A (p.Thr305=) c.380C>A c.849C>A (p.Thr283=) | dbSNP |
19 | g.18596732G>A | CA404850653 | CRLF1 | c.914C>T (p.Thr305Ile) c.379C>T c.848C>T (p.Thr283Ile) | |
19 | g.18596732G>C | CA404850654 | CRLF1 | c.914C>G (p.Thr305Ser) c.379C>G c.848C>G (p.Thr283Ser) | |
19 | g.18596732G>T | CA404850655 | CRLF1 | c.914C>A (p.Thr305Asn) c.379C>A c.848C>A (p.Thr283Asn) | |
19 | g.18596733T>A | CA404850658 | CRLF1 | c.913A>T (p.Thr305Ser) c.378A>T c.847A>T (p.Thr283Ser) | |
19 | g.18596733T>C | CA404850656 | CRLF1 | c.913A>G (p.Thr305Ala) c.378A>G c.847A>G (p.Thr283Ala) | |
19 | g.18596733T>G | CA404850657 | CRLF1 | c.913A>C (p.Thr305Pro) c.378A>C c.847A>C (p.Thr283Pro) | |
19 | g.18596734G>A | CA506116376 | CRLF1 | c.912C>T (p.Gly304=) c.377C>T c.846C>T (p.Gly282=) | |
19 | g.18596734G>C | CA506116377 | CRLF1 | c.912C>G (p.Gly304=) c.377C>G c.846C>G (p.Gly282=) | |
19 | g.18596734G= | CA2326432276 | CRLF1 | c.912C= (p.Gly304=) c.377C= c.846C= (p.Gly282=) | |
19 | g.18596734G>T | CA9314051 | CRLF1 | c.912C>A (p.Gly304=) c.377C>A c.846C>A (p.Gly282=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596735C>A | CA404850659 | CRLF1 | c.911G>T (p.Gly304Val) c.376G>T c.845G>T (p.Gly282Val) | |
19 | g.18596735C>G | CA404850660 | CRLF1 | c.911G>C (p.Gly304Ala) c.376G>C c.845G>C (p.Gly282Ala) | |
19 | g.18596735C>T | CA404850661 | CRLF1 | c.911G>A (p.Gly304Asp) c.376G>A c.845G>A (p.Gly282Asp) | |
19 | g.18596736C>A | CA404850662 | CRLF1 | c.910G>T (p.Gly304Cys) c.375G>T c.844G>T (p.Gly282Cys) | |
19 | g.18596736C= | CA2326432277 | CRLF1 | c.910G= (p.Gly304=) c.375G= c.844G= (p.Gly282=) | |
19 | g.18596736C>G | CA9314052 | CRLF1 | c.910G>C (p.Gly304Arg) c.375G>C c.844G>C (p.Gly282Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596736C>T | CA306260340 | CRLF1 | c.910G>A (p.Gly304Ser) c.375G>A c.844G>A (p.Gly282Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596736_18596738delinsCGG | CA2326432278 | CRLF1 | c.908_910delinsCCG (p.Pro303=) c.373_375delinsCCG c.842_844delinsCCG (p.Pro281=) | |
19 | g.18596737G>A | CA506116381 | CRLF1 | c.909C>T (p.Pro303=) c.374C>T c.843C>T (p.Pro281=) | dbSNP gnomAD v4 |
19 | g.18596737G>C | CA506116382 | CRLF1 | c.909C>G (p.Pro303=) c.374C>G c.843C>G (p.Pro281=) | |
19 | g.18596737G= | CA2326432280 | CRLF1 | c.909C= (p.Pro303=) c.374C= c.843C= (p.Pro281=) | |
19 | g.18596737G>T | CA506116383 | CRLF1 | c.909C>A (p.Pro303=) c.374C>A c.843C>A (p.Pro281=) | |
19 | g.18596739del | CA2583602691 | CRLF1 | c.909del (p.Gly304AlafsTer?) c.374del c.843del (p.Gly282AlafsTer?) | gnomAD v4 |
19 | g.18596738_18596739del | CA2326432279 | CRLF1 | c.908_909del (p.Pro303ArgfsTer26) c.373_374del c.842_843del (p.Pro281ArgfsTer26) | dbSNP |
19 | g.18596738G>A | CA404850663 | CRLF1 | c.908C>T (p.Pro303Leu) c.373C>T c.842C>T (p.Pro281Leu) | gnomAD v4 |
19 | g.18596738G>C | CA404850664 | CRLF1 | c.908C>G (p.Pro303Arg) c.373C>G c.842C>G (p.Pro281Arg) | gnomAD v4 |
19 | g.18596738G>T | CA404850665 | CRLF1 | c.908C>A (p.Pro303His) c.373C>A c.842C>A (p.Pro281His) | |
19 | g.18596739G>A | CA404850668 | CRLF1 | c.907C>T (p.Pro303Ser) c.372C>T c.841C>T (p.Pro281Ser) | gnomAD v4 |
19 | g.18596739G>C | CA404850667 | CRLF1 | c.907C>G (p.Pro303Ala) c.372C>G c.841C>G (p.Pro281Ala) | |
19 | g.18596739G>T | CA404850666 | CRLF1 | c.907C>A (p.Pro303Thr) c.372C>A c.841C>A (p.Pro281Thr) | |
19 | g.18596740T>A | CA404850669 | CRLF1 | c.906A>T (p.Lys302Asn) c.371A>T c.840A>T (p.Lys280Asn) | |
19 | g.18596740T>C | CA506116385 | CRLF1 | c.906A>G (p.Lys302=) c.371A>G c.840A>G (p.Lys280=) | |
19 | g.18596740T>G | CA404850670 | CRLF1 | c.906A>C (p.Lys302Asn) c.371A>C c.840A>C (p.Lys280Asn) | |
19 | g.18596741T>A | CA404850671 | CRLF1 | c.905A>T (p.Lys302Ile) c.370A>T c.839A>T (p.Lys280Ile) | |
19 | g.18596741T>C | CA404850672 | CRLF1 | c.905A>G (p.Lys302Arg) c.370A>G c.839A>G (p.Lys280Arg) | |
19 | g.18596741T>G | CA404850673 | CRLF1 | c.905A>C (p.Lys302Thr) c.370A>C c.839A>C (p.Lys280Thr) | |
19 | g.18596742T>A | CA404850674 | CRLF1 | c.904A>T (p.Lys302Ter) c.369A>T c.838A>T (p.Lys280Ter) | |
19 | g.18596742T>C | CA404850675 | CRLF1 | c.904A>G (p.Lys302Glu) c.369A>G c.838A>G (p.Lys280Glu) | |
19 | g.18596742T>G | CA9314053 | CRLF1 | c.904A>C (p.Lys302Gln) c.369A>C c.838A>C (p.Lys280Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596742T= | CA2326432281 | CRLF1 | c.904A= (p.Lys302=) c.369A= c.838A= (p.Lys280=) | |
19 | g.18596743C>A | CA506116389 | CRLF1 | c.903G>T (p.Leu301=) c.368G>T c.837G>T (p.Leu279=) | |
19 | g.18596743C= | CA2326432282 | CRLF1 | c.903G= (p.Leu301=) c.368G= c.837G= (p.Leu279=) | |
19 | g.18596743C>G | CA9314054 | CRLF1 | c.903G>C (p.Leu301=) c.368G>C c.837G>C (p.Leu279=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596743C>T | CA506116388 | CRLF1 | c.903G>A (p.Leu301=) c.368G>A c.837G>A (p.Leu279=) | dbSNP gnomAD v2 |
19 | g.18596744A>C | CA404850676 | CRLF1 | c.902T>G (p.Leu301Arg) c.367T>G c.836T>G (p.Leu279Arg) | |
19 | g.18596744A>G | CA404850677 | CRLF1 | c.902T>C (p.Leu301Pro) c.367T>C c.836T>C (p.Leu279Pro) | |
19 | g.18596744A>T | CA404850678 | CRLF1 | c.902T>A (p.Leu301Gln) c.367T>A c.836T>A (p.Leu279Gln) | |
19 | g.18596745G>A | CA506116391 | CRLF1 | c.901C>T (p.Leu301=) c.366C>T c.835C>T (p.Leu279=) | |
19 | g.18596745G>C | CA404850679 | CRLF1 | c.901C>G (p.Leu301Val) c.366C>G c.835C>G (p.Leu279Val) | |
19 | g.18596745G>T | CA404850680 | CRLF1 | c.901C>A (p.Leu301Met) c.366C>A c.835C>A (p.Leu279Met) | |
19 | g.18596746G>A | CA506116394 | CRLF1 | c.900C>T (p.Gly300=) c.365C>T c.834C>T (p.Gly278=) | |
19 | g.18596746G>C | CA506116395 | CRLF1 | c.900C>G (p.Gly300=) c.365C>G c.834C>G (p.Gly278=) | |
19 | g.18596746G= | CA2326432283 | CRLF1 | c.900C= (p.Gly300=) c.365C= c.834C= (p.Gly278=) | |
19 | g.18596746G>T | CA9314055 | CRLF1 | c.900C>A (p.Gly300=) c.365C>A c.834C>A (p.Gly278=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596747C>A | CA404850681 | CRLF1 | c.899G>T (p.Gly300Val) c.364G>T c.833G>T (p.Gly278Val) | gnomAD v4 |
19 | g.18596747C>G | CA404850682 | CRLF1 | c.899G>C (p.Gly300Ala) c.364G>C c.833G>C (p.Gly278Ala) | |
19 | g.18596747C>T | CA404850683 | CRLF1 | c.899G>A (p.Gly300Asp) c.364G>A c.833G>A (p.Gly278Asp) | |
19 | g.18596748C>A | CA404850684 | CRLF1 | c.898G>T (p.Gly300Cys) c.363G>T c.832G>T (p.Gly278Cys) | |
19 | g.18596748C= | CA2326432284 | CRLF1 | c.898G= (p.Gly300=) c.363G= c.832G= (p.Gly278=) | |
19 | g.18596748C>G | CA404850685 | CRLF1 | c.898G>C (p.Gly300Arg) c.363G>C c.832G>C (p.Gly278Arg) | gnomAD v4 |
19 | g.18596748C>T | CA404850686 | CRLF1 | c.898G>A (p.Gly300Ser) c.363G>A c.832G>A (p.Gly278Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596749G>A | CA506116396 | CRLF1 | c.897C>T (p.Ala299=) c.362C>T c.831C>T (p.Ala277=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.18596749G>C | CA506116397 | CRLF1 | c.897C>G (p.Ala299=) c.362C>G c.831C>G (p.Ala277=) | |
19 | g.18596749G= | CA2326432285 | CRLF1 | c.897C= (p.Ala299=) c.362C= c.831C= (p.Ala277=) | |
19 | g.18596749G>T | CA506116398 | CRLF1 | c.897C>A (p.Ala299=) c.362C>A c.831C>A (p.Ala277=) | gnomAD v4 |
19 | g.18596750G>A | CA404850687 | CRLF1 | c.896C>T (p.Ala299Val) c.361C>T c.830C>T (p.Ala277Val) | |
19 | g.18596750G>C | CA404850688 | CRLF1 | c.896C>G (p.Ala299Gly) c.361C>G c.830C>G (p.Ala277Gly) | |
19 | g.18596750G>T | CA404850689 | CRLF1 | c.896C>A (p.Ala299Asp) c.361C>A c.830C>A (p.Ala277Asp) | |
19 | g.18596751C>A | CA404850690 | CRLF1 | c.895G>T (p.Ala299Ser) c.360G>T c.829G>T (p.Ala277Ser) | |
19 | g.18596751C>G | CA404850691 | CRLF1 | c.895G>C (p.Ala299Pro) c.360G>C c.829G>C (p.Ala277Pro) | |
19 | g.18596751C>T | CA404850692 | CRLF1 | c.895G>A (p.Ala299Thr) c.360G>A c.829G>A (p.Ala277Thr) | |
19 | g.18596752C>A | CA506116402 | CRLF1 | c.894G>T (p.Leu298=) c.359G>T c.828G>T (p.Leu276=) | |
19 | g.18596752C>G | CA506116403 | CRLF1 | c.894G>C (p.Leu298=) c.359G>C c.828G>C (p.Leu276=) | |
19 | g.18596752C>T | CA506116404 | CRLF1 | c.894G>A (p.Leu298=) c.359G>A c.828G>A (p.Leu276=) | |
19 | g.18596753A= | CA2326432286 | CRLF1 | c.893T= (p.Leu298=) c.358T= c.827T= (p.Leu276=) | |
19 | g.18596753A>C | CA404850695 | CRLF1 | c.893T>G (p.Leu298Arg) c.358T>G c.827T>G (p.Leu276Arg) | dbSNP |
19 | g.18596753A>G | CA404850694 | CRLF1 | c.893T>C (p.Leu298Pro) c.358T>C c.827T>C (p.Leu276Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596753A>T | CA404850693 | CRLF1 | c.893T>A (p.Leu298Gln) c.358T>A c.827T>A (p.Leu276Gln) | |
19 | g.18596754G>A | CA506116405 | CRLF1 | c.892C>T (p.Leu298=) c.357C>T c.826C>T (p.Leu276=) | |
19 | g.18596754G>C | CA404850696 | CRLF1 | c.892C>G (p.Leu298Val) c.357C>G c.826C>G (p.Leu276Val) | |
19 | g.18596754G>T | CA404850697 | CRLF1 | c.892C>A (p.Leu298Met) c.357C>A c.826C>A (p.Leu276Met) | |
19 | g.18596755G>A | CA506116406 | CRLF1 | c.891C>T (p.Arg297=) c.356C>T c.825C>T (p.Arg275=) | |
19 | g.18596755G>C | CA506116407 | CRLF1 | c.891C>G (p.Arg297=) c.356C>G c.825C>G (p.Arg275=) | |
19 | g.18596755G>T | CA506116408 | CRLF1 | c.891C>A (p.Arg297=) c.356C>A c.825C>A (p.Arg275=) | |
19 | g.18596756C>A | CA9314056 | CRLF1 | c.890G>T (p.Arg297Leu) c.355G>T c.824G>T (p.Arg275Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596756C= | CA2326432287 | CRLF1 | c.890G= (p.Arg297=) c.355G= c.824G= (p.Arg275=) | |
19 | g.18596756C>G | CA404850698 | CRLF1 | c.890G>C (p.Arg297Pro) c.355G>C c.824G>C (p.Arg275Pro) | |
19 | g.18596756C>T | CA9314057 | CRLF1 | c.890G>A (p.Arg297His) c.355G>A c.824G>A (p.Arg275His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596757G>A | CA9314058 | CRLF1 | c.889C>T (p.Arg297Cys) c.354C>T c.823C>T (p.Arg275Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596757G>C | CA404850699 | CRLF1 | c.889C>G (p.Arg297Gly) c.354C>G c.823C>G (p.Arg275Gly) | |
19 | g.18596757G= | CA2326432288 | CRLF1 | c.889C= (p.Arg297=) c.354C= c.823C= (p.Arg275=) | |
19 | g.18596757G>T | CA404850700 | CRLF1 | c.889C>A (p.Arg297Ser) c.354C>A c.823C>A (p.Arg275Ser) | |
19 | g.18596758G>A | CA506116411 | CRLF1 | c.888C>T (p.Cys296=) c.353C>T c.822C>T (p.Cys274=) | |
19 | g.18596758G>C | CA404850701 | CRLF1 | c.888C>G (p.Cys296Trp) c.353C>G c.822C>G (p.Cys274Trp) | |
19 | g.18596758G>T | CA404850702 | CRLF1 | c.888C>A (p.Cys296Ter) c.353C>A c.822C>A (p.Cys274Ter) | COSMIC |
19 | g.18596759C>A | CA404850703 | CRLF1 | c.887G>T (p.Cys296Phe) c.352G>T c.821G>T (p.Cys274Phe) | |
19 | g.18596759C>G | CA404850704 | CRLF1 | c.887G>C (p.Cys296Ser) c.352G>C c.821G>C (p.Cys274Ser) | |
19 | g.18596759C>T | CA404850705 | CRLF1 | c.887G>A (p.Cys296Tyr) c.352G>A c.821G>A (p.Cys274Tyr) | |
19 | g.18596759_18596762delinsCAGG | CA2326432289 | CRLF1 | c.884_887delinsCCTG (p.Ser295=) c.349_352delinsCCTG c.818_821delinsCCTG (p.Ser273=) | |
19 | g.18596760A>C | CA404850706 | CRLF1 | c.886T>G (p.Cys296Gly) c.351T>G c.820T>G (p.Cys274Gly) | |
19 | g.18596760A>G | CA404850707 | CRLF1 | c.886T>C (p.Cys296Arg) c.351T>C c.820T>C (p.Cys274Arg) | |
19 | g.18596760A>T | CA404850708 | CRLF1 | c.886T>A (p.Cys296Ser) c.351T>A c.820T>A (p.Cys274Ser) | |
19 | g.18596763_18596765del | CA994214130 | CRLF1 | c.884_886del (p.Ser295del) c.349_351del c.818_820del (p.Ser273del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596760_18596761insTTTGATGTCGCAGAATTTTTCCGCGCCCAAATCCGCGCCGAAGCCCGCTTC | CA2526224994 | CRLF1 | c.885_886insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA (p.Ser295_Cys296insGluAlaGlyPheGlyAlaAspLeuGlyAlaGluLysPheCysAspIleLys) c.350_351insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA c.819_820insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA (p.Ser273_Cys274insGluAlaGlyPheGlyAlaAspLeuGlyAlaGluLysPheCysAspIleLys) | |
19 | g.18596760_18596761insTTTGATGTCGCAGAATTTTTCCGCGCCCAAATCCGCGCCGAAACCCGCTTCGGTAACGGCATAATCGGCCAGATGCAGGGCGAGGCGGGTGGCGGTAACGGAGTTGCAGCCGTGGGCGATGTTGGCGAAG | CA2558194762 | CRLF1 | c.885_886insCTTCGCCAACATCGCCCACGGCTGCAACTCCGTTACCGCCACCCGCCTCGCCCTGCATCTGGCCGATTATGCCGTTACCGAAGCGGGTTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA (p.Cys296LeufsTer?) c.350_351insCTTCGCCAACATCGCCCACGGCTGCAACTCCGTTACCGCCACCCGCCTCGCCCTGCATCTGGCCGATTATGCCGTTACCGAAGCGGGTTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA c.819_820insCTTCGCCAACATCGCCCACGGCTGCAACTCCGTTACCGCCACCCGCCTCGCCCTGCATCTGGCCGATTATGCCGTTACCGAAGCGGGTTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA (p.Cys274LeufsTer?) | |
19 | g.18596761G>A | CA306260370 | CRLF1 | c.885C>T (p.Ser295=) c.350C>T c.819C>T (p.Ser273=) | dbSNP gnomAD v4 COSMIC |
19 | g.18596761G>C | CA506116413 | CRLF1 | c.885C>G (p.Ser295=) c.350C>G c.819C>G (p.Ser273=) | |
19 | g.18596761G= | CA2326432290 | CRLF1 | c.885C= (p.Ser295=) c.350C= c.819C= (p.Ser273=) | |
19 | g.18596761G>T | CA506116415 | CRLF1 | c.885C>A (p.Ser295=) c.350C>A c.819C>A (p.Ser273=) | |
19 | g.18596762G>A | CA404850709 | CRLF1 | c.884C>T (p.Ser295Phe) c.349C>T c.818C>T (p.Ser273Phe) | |
19 | g.18596762G>C | CA404850710 | CRLF1 | c.884C>G (p.Ser295Cys) c.349C>G c.818C>G (p.Ser273Cys) | |
19 | g.18596762G>T | CA404850711 | CRLF1 | c.884C>A (p.Ser295Tyr) c.349C>A c.818C>A (p.Ser273Tyr) | |
19 | g.18596762_18596763insTAACGGCATAATCGGCCAGATGCAGGGCGAGGCGGGTGGCGGTAACGGAGTTGCAGCCGTGGGCGATGTTGGCGA | CA2501863485 | CRLF1 | c.883_884insTCGCCAACATCGCCCACGGCTGCAACTCCGTTACCGCCACCCGCCTCGCCCTGCATCTGGCCGATTATGCCGTTA (p.Ser295delinsPheAlaAsnIleAlaHisGlyCysAsnSerValThrAlaThrArgLeuAlaLeuHisLeuAlaAspTyrAlaValThr) c.348_349insTCGCCAACATCGCCCACGGCTGCAACTCCGTTACCGCCACCCGCCTCGCCCTGCATCTGGCCGATTATGCCGTTA c.817_818insTCGCCAACATCGCCCACGGCTGCAACTCCGTTACCGCCACCCGCCTCGCCCTGCATCTGGCCGATTATGCCGTTA (p.Ser273delinsPheAlaAsnIleAlaHisGlyCysAsnSerValThrAlaThrArgLeuAlaLeuHisLeuAlaAspTyrAlaValThr) | |
19 | g.18596763A>C | CA404850712 | CRLF1 | c.883T>G (p.Ser295Ala) c.348T>G c.817T>G (p.Ser273Ala) | |
19 | g.18596763A>G | CA404850713 | CRLF1 | c.883T>C (p.Ser295Pro) c.348T>C c.817T>C (p.Ser273Pro) | |
19 | g.18596763A>T | CA404850714 | CRLF1 | c.883T>A (p.Ser295Thr) c.348T>A c.817T>A (p.Ser273Thr) | |
19 | g.18596764G>A | CA506116418 | CRLF1 | c.882C>T (p.Thr294=) c.347C>T c.816C>T (p.Thr272=) | |
19 | g.18596764G>C | CA9314059 | CRLF1 | c.882C>G (p.Thr294=) c.347C>G c.816C>G (p.Thr272=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596764G= | CA2326432291 | CRLF1 | c.882C= (p.Thr294=) c.347C= c.816C= (p.Thr272=) | |
19 | g.18596764G>T | CA506116417 | CRLF1 | c.882C>A (p.Thr294=) c.347C>A c.816C>A (p.Thr272=) | |
19 | g.18596764_18596765del | CA2583602703 | CRLF1 | c.881_882del (p.Thr294IlefsTer?) c.346_347del c.815_816del (p.Thr272IlefsTer?) | gnomAD v4 |
19 | g.18596765G>A | CA404850715 | CRLF1 | c.881C>T (p.Thr294Ile) c.346C>T c.815C>T (p.Thr272Ile) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596765G>C | CA404850716 | CRLF1 | c.881C>G (p.Thr294Ser) c.346C>G c.815C>G (p.Thr272Ser) | |
19 | g.18596765G= | CA2326432292 | CRLF1 | c.881C= (p.Thr294=) c.346C= c.815C= (p.Thr272=) | |
19 | g.18596765G>T | CA404850717 | CRLF1 | c.881C>A (p.Thr294Asn) c.346C>A c.815C>A (p.Thr272Asn) | |
19 | g.18596766T>A | CA404850718 | CRLF1 | c.880A>T (p.Thr294Ser) c.345A>T c.814A>T (p.Thr272Ser) | |
19 | g.18596766T>C | CA404850719 | CRLF1 | c.880A>G (p.Thr294Ala) c.345A>G c.814A>G (p.Thr272Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596766T>G | CA404850720 | CRLF1 | c.880A>C (p.Thr294Pro) c.345A>C c.814A>C (p.Thr272Pro) | |
19 | g.18596766T= | CA2326432293 | CRLF1 | c.880A= (p.Thr294=) c.345A= c.814A= (p.Thr272=) | |
19 | g.18596767C>A | CA404850721 | CRLF1 | c.879G>T (p.Gln293His) c.344G>T c.813G>T (p.Gln271His) | |
19 | g.18596767C>G | CA404850722 | CRLF1 | c.879G>C (p.Gln293His) c.344G>C c.813G>C (p.Gln271His) | |
19 | g.18596767C>T | CA506116419 | CRLF1 | c.879G>A (p.Gln293=) c.344G>A c.813G>A (p.Gln271=) | |
19 | g.18596768T>A | CA404850723 | CRLF1 | c.878A>T (p.Gln293Leu) c.343A>T c.812A>T (p.Gln271Leu) | |
19 | g.18596768T>C | CA404850724 | CRLF1 | c.878A>G (p.Gln293Arg) c.343A>G c.812A>G (p.Gln271Arg) | gnomAD v4 |
19 | g.18596768T>G | CA404850725 | CRLF1 | c.878A>C (p.Gln293Pro) c.343A>C c.812A>C (p.Gln271Pro) | |
19 | g.18596769G>A | CA404850726 | CRLF1 | c.877C>T (p.Gln293Ter) c.342C>T c.811C>T (p.Gln271Ter) | gnomAD v4 |
19 | g.18596769G>C | CA404850727 | CRLF1 | c.877C>G (p.Gln293Glu) c.342C>G c.811C>G (p.Gln271Glu) | |
19 | g.18596769G= | CA2326432294 | CRLF1 | c.877C= (p.Gln293=) c.342C= c.811C= (p.Gln271=) | |
19 | g.18596769G>T | CA9314060 | CRLF1 | c.877C>A (p.Gln293Lys) c.342C>A c.811C>A (p.Gln271Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596770G>A | CA506116420 | CRLF1 | c.876C>T (p.Asn292=) c.341C>T c.810C>T (p.Asn270=) | |
19 | g.18596770G>C | CA404850729 | CRLF1 | c.876C>G (p.Asn292Lys) c.341C>G c.810C>G (p.Asn270Lys) | |
19 | g.18596770G>T | CA404850728 | CRLF1 | c.876C>A (p.Asn292Lys) c.341C>A c.810C>A (p.Asn270Lys) | |
19 | g.18596771T>A | CA404850730 | CRLF1 | c.875A>T (p.Asn292Ile) c.340A>T c.809A>T (p.Asn270Ile) | |
19 | g.18596771T>C | CA404850731 | CRLF1 | c.875A>G (p.Asn292Ser) c.340A>G c.809A>G (p.Asn270Ser) | gnomAD v4 |
19 | g.18596771T>G | CA404850732 | CRLF1 | c.875A>C (p.Asn292Thr) c.340A>C c.809A>C (p.Asn270Thr) | |
19 | g.18596772T>A | CA404850733 | CRLF1 | c.874A>T (p.Asn292Tyr) c.339A>T c.808A>T (p.Asn270Tyr) | |
19 | g.18596772T>C | CA404850734 | CRLF1 | c.874A>G (p.Asn292Asp) c.339A>G c.808A>G (p.Asn270Asp) | |
19 | g.18596772T>G | CA404850735 | CRLF1 | c.874A>C (p.Asn292His) c.339A>C c.808A>C (p.Asn270His) | |
19 | g.18596773G>A | CA306260384 | CRLF1 | c.873C>T (p.Ser291=) c.338C>T c.807C>T (p.Ser269=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596773G>C | CA404850737 | CRLF1 | c.873C>G (p.Ser291Arg) c.338C>G c.807C>G (p.Ser269Arg) | gnomAD v4 |
19 | g.18596773G= | CA2326432295 | CRLF1 | c.873C= (p.Ser291=) c.338C= c.807C= (p.Ser269=) | |
19 | g.18596773G>T | CA404850736 | CRLF1 | c.873C>A (p.Ser291Arg) c.338C>A c.807C>A (p.Ser269Arg) | |
19 | g.18596774C>A | CA404850738 | CRLF1 | c.872G>T (p.Ser291Ile) c.337G>T c.806G>T (p.Ser269Ile) | |
19 | g.18596774C= | CA2326432296 | CRLF1 | c.872G= (p.Ser291=) c.337G= c.806G= (p.Ser269=) | |
19 | g.18596774C>G | CA404850739 | CRLF1 | c.872G>C (p.Ser291Thr) c.337G>C c.806G>C (p.Ser269Thr) | |
19 | g.18596774C>T | CA404850740 | CRLF1 | c.872G>A (p.Ser291Asn) c.337G>A c.806G>A (p.Ser269Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596775T>A | CA404850741 | CRLF1 | c.871A>T (p.Ser291Cys) c.336A>T c.805A>T (p.Ser269Cys) | |
19 | g.18596775T>C | CA404850742 | CRLF1 | c.871A>G (p.Ser291Gly) c.336A>G c.805A>G (p.Ser269Gly) | |
19 | g.18596775T>G | CA404850743 | CRLF1 | c.871A>C (p.Ser291Arg) c.336A>C c.805A>C (p.Ser269Arg) | |
19 | g.18596776C>A | CA506116423 | CRLF1 | c.870G>T (p.Val290=) c.335G>T c.804G>T (p.Val268=) | gnomAD v4 |
19 | g.18596776C= | CA2326432297 | CRLF1 | c.870G= (p.Val290=) c.335G= c.804G= (p.Val268=) | |
19 | g.18596776C>G | CA506116425 | CRLF1 | c.870G>C (p.Val290=) c.335G>C c.804G>C (p.Val268=) | |
19 | g.18596776C>T | CA9314061 | CRLF1 | c.870G>A (p.Val290=) c.335G>A c.804G>A (p.Val268=) | dbSNP ExAC gnomAD v2 |
19 | g.18596777A>C | CA404850744 | CRLF1 | c.869T>G (p.Val290Gly) c.334T>G c.803T>G (p.Val268Gly) | gnomAD v4 |
19 | g.18596777A>G | CA404850745 | CRLF1 | c.869T>C (p.Val290Ala) c.334T>C c.803T>C (p.Val268Ala) | gnomAD v4 |
19 | g.18596777A>T | CA404850746 | CRLF1 | c.869T>A (p.Val290Glu) c.334T>A c.803T>A (p.Val268Glu) | |
19 | g.18596778C>A | CA404850749 | CRLF1 | c.868G>T (p.Val290Leu) c.333G>T c.802G>T (p.Val268Leu) | |
19 | g.18596778C>G | CA404850748 | CRLF1 | c.868G>C (p.Val290Leu) c.333G>C c.802G>C (p.Val268Leu) | |
19 | g.18596778C>T | CA404850747 | CRLF1 | c.868G>A (p.Val290Met) c.333G>A c.802G>A (p.Val268Met) | |
19 | g.18596779A>C | CA404850750 | CRLF1 | c.867T>G (p.Asp289Glu) c.332T>G c.801T>G (p.Asp267Glu) | |
19 | g.18596779A>G | CA506116428 | CRLF1 | c.867T>C (p.Asp289=) c.332T>C c.801T>C (p.Asp267=) | |
19 | g.18596779A>T | CA404850751 | CRLF1 | c.867T>A (p.Asp289Glu) c.332T>A c.801T>A (p.Asp267Glu) | |
19 | g.18596780T>A | CA9314062 | CRLF1 | c.866A>T (p.Asp289Val) c.331A>T c.800A>T (p.Asp267Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596780T>C | CA404850752 | CRLF1 | c.866A>G (p.Asp289Gly) c.331A>G c.800A>G (p.Asp267Gly) | |
19 | g.18596780T>G | CA404850753 | CRLF1 | c.866A>C (p.Asp289Ala) c.331A>C c.800A>C (p.Asp267Ala) | |
19 | g.18596780T= | CA2326432298 | CRLF1 | c.866A= (p.Asp289=) c.331A= c.800A= (p.Asp267=) | |
19 | g.18596781C>A | CA404850754 | CRLF1 | c.865G>T (p.Asp289Tyr) c.330G>T c.799G>T (p.Asp267Tyr) | |
19 | g.18596781C= | CA2326432300 | CRLF1 | c.865G= (p.Asp289=) c.330G= c.799G= (p.Asp267=) | |
19 | g.18596781C>G | CA404850755 | CRLF1 | c.865G>C (p.Asp289His) c.330G>C c.799G>C (p.Asp267His) | |
19 | g.18596781C>T | CA9314063 | CRLF1 | c.865G>A (p.Asp289Asn) c.330G>A c.799G>A (p.Asp267Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596781_18596789delinsCGTCCACCA | CA2326432299 | CRLF1 | c.857_865delinsTGGTGGACG (p.Val286=) c.322_330delinsTGGTGGACG c.791_799delinsTGGTGGACG (p.Val264=) | |
19 | g.18596782G>A | CA506116432 | CRLF1 | c.864C>T (p.Asp288=) c.329C>T c.798C>T (p.Asp266=) | dbSNP gnomAD v4 |
19 | g.18596782G>C | CA404850756 | CRLF1 | c.864C>G (p.Asp288Glu) c.329C>G c.798C>G (p.Asp266Glu) | |
19 | g.18596782G= | CA2326432301 | CRLF1 | c.864C= (p.Asp288=) c.329C= c.798C= (p.Asp266=) | |
19 | g.18596782G>T | CA404850757 | CRLF1 | c.864C>A (p.Asp288Glu) c.329C>A c.798C>A (p.Asp266Glu) | |
19 | g.18596782_18596789del | CA341512 | CRLF1 | c.857_864del (p.Val286GlyfsTer?) c.322_329del c.791_798del (p.Val264GlyfsTer?) | ClinVar dbSNP |
19 | g.18596783T>A | CA404850758 | CRLF1 | c.863A>T (p.Asp288Val) c.328A>T c.797A>T (p.Asp266Val) | |
19 | g.18596783T>C | CA404850759 | CRLF1 | c.863A>G (p.Asp288Gly) c.328A>G c.797A>G (p.Asp266Gly) | |
19 | g.18596783T>G | CA404850760 | CRLF1 | c.863A>C (p.Asp288Ala) c.328A>C c.797A>C (p.Asp266Ala) | |
19 | g.18596784C>A | CA404850763 | CRLF1 | c.862G>T (p.Asp288Tyr) c.327G>T c.796G>T (p.Asp266Tyr) | |
19 | g.18596784C>G | CA404850761 | CRLF1 | c.862G>C (p.Asp288His) c.327G>C c.796G>C (p.Asp266His) | |
19 | g.18596784C>T | CA404850762 | CRLF1 | c.862G>A (p.Asp288Asn) c.327G>A c.796G>A (p.Asp266Asn) | |
19 | g.18596785C>A | CA506116435 | CRLF1 | c.861G>T (p.Val287=) c.326G>T c.795G>T (p.Val265=) | |
19 | g.18596785C>G | CA506116439 | CRLF1 | c.861G>C (p.Val287=) c.326G>C c.795G>C (p.Val265=) | ClinVar |
19 | g.18596785C>T | CA506116437 | CRLF1 | c.861G>A (p.Val287=) c.326G>A c.795G>A (p.Val265=) | |
19 | g.18596786A= | CA2326432302 | CRLF1 | c.860T= (p.Val287=) c.325T= c.794T= (p.Val265=) | |
19 | g.18596786A>C | CA404850764 | CRLF1 | c.860T>G (p.Val287Gly) c.325T>G c.794T>G (p.Val265Gly) | |
19 | g.18596786A>G | CA404850765 | CRLF1 | c.860T>C (p.Val287Ala) c.325T>C c.794T>C (p.Val265Ala) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596786A>T | CA404850766 | CRLF1 | c.860T>A (p.Val287Glu) c.325T>A c.794T>A (p.Val265Glu) | |
19 | g.18596787C>A | CA404850767 | CRLF1 | c.859G>T (p.Val287Leu) c.324G>T c.793G>T (p.Val265Leu) | |
19 | g.18596787C>G | CA404850768 | CRLF1 | c.859G>C (p.Val287Leu) c.324G>C c.793G>C (p.Val265Leu) | |
19 | g.18596787C>T | CA404850769 | CRLF1 | c.859G>A (p.Val287Met) c.324G>A c.793G>A (p.Val265Met) | |
19 | g.18596788C>A | CA506116444 | CRLF1 | c.858G>T (p.Val286=) c.323G>T c.792G>T (p.Val264=) | |
19 | g.18596788C>G | CA506116446 | CRLF1 | c.858G>C (p.Val286=) c.323G>C c.792G>C (p.Val264=) | |
19 | g.18596788C>T | CA506116447 | CRLF1 | c.858G>A (p.Val286=) c.323G>A c.792G>A (p.Val264=) | |
19 | g.18596789A>C | CA404850770 | CRLF1 | c.857T>G (p.Val286Gly) c.322T>G c.791T>G (p.Val264Gly) | |
19 | g.18596789A>G | CA404850771 | CRLF1 | c.857T>C (p.Val286Ala) c.322T>C c.791T>C (p.Val264Ala) | |
19 | g.18596789A>T | CA404850772 | CRLF1 | c.857T>A (p.Val286Glu) c.322T>A c.791T>A (p.Val264Glu) | gnomAD v4 |
19 | g.18596789_18596790insAACACAC | CA2813827705 | CRLF1 | c.856_857insGTGTGTT (p.Val286GlyfsTer?) c.321_322insGTGTGTT c.790_791insGTGTGTT (p.Val264GlyfsTer?) | |
19 | g.18596790C>A | CA404850773 | CRLF1 | c.856G>T (p.Val286Leu) c.321G>T c.790G>T (p.Val264Leu) | |
19 | g.18596790C= | CA2326432303 | CRLF1 | c.856G= (p.Val286=) c.321G= c.790G= (p.Val264=) | |
19 | g.18596790C>G | CA404850774 | CRLF1 | c.856G>C (p.Val286Leu) c.321G>C c.790G>C (p.Val264Leu) | |
19 | g.18596790C>T | CA9314064 | CRLF1 | c.856G>A (p.Val286Met) c.321G>A c.790G>A (p.Val264Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596791C>A | CA404850777 | CRLF1 | c.856-1G>T (n.856-1G>T) c.321-1G>T c.790-1G>T (n.790-1G>T) | |
19 | g.18596791C>G | CA404850776 | CRLF1 | c.856-1G>C (n.856-1G>C) c.321-1G>C c.790-1G>C (n.790-1G>C) | |
19 | g.18596791C>T | CA404850775 | CRLF1 | c.856-1G>A (n.856-1G>A) c.321-1G>A c.790-1G>A (n.790-1G>A) | |
19 | g.18596792T>A | CA404850780 | CRLF1 | c.856-2A>T (n.856-2A>T) c.321-2A>T c.790-2A>T (n.790-2A>T) | |
19 | g.18596792T>C | CA404850778 | CRLF1 | c.856-2A>G (n.856-2A>G) c.321-2A>G c.790-2A>G (n.790-2A>G) | |
19 | g.18596792T>G | CA404850779 | CRLF1 | c.856-2A>C (n.856-2A>C) c.321-2A>C c.790-2A>C (n.790-2A>C) | COSMIC |
19 | g.18596793G>A | CA2813827708 | CRLF1 | c.856-3C>T (n.856-3C>T) c.321-3C>T c.790-3C>T (n.790-3C>T) | |
19 | g.18596794G>C | CA2813827709 | CRLF1 | c.856-4C>G (n.856-4C>G) c.321-4C>G c.790-4C>G (n.790-4C>G) | |
19 | g.18596795A= | CA2326432304 | CRLF1 | c.856-5T= (n.856-5T=) c.321-5T= c.790-5T= (n.790-5T=) | |
19 | g.18596795A>T | CA632626056 | CRLF1 | c.856-5T>A (n.856-5T>A) c.321-5T>A c.790-5T>A (n.790-5T>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596796C= | CA2326432305 | CRLF1 | c.856-6G= (n.856-6G=) c.321-6G= c.790-6G= (n.790-6G=) | |
19 | g.18596796C>G | CA783933610 | CRLF1 | c.856-6G>C (n.856-6G>C) c.321-6G>C c.790-6G>C (n.790-6G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596796C>T | CA306260394 | CRLF1 | c.856-6G>A (n.856-6G>A) c.321-6G>A c.790-6G>A (n.790-6G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596799T>C | CA2583602722 | CRLF1 | c.856-9A>G (n.856-9A>G) c.321-9A>G c.790-9A>G (n.790-9A>G) | gnomAD v4 |
19 | g.18596801A>C | CA2583602723 | CRLF1 | c.856-11T>G (n.856-11T>G) c.321-11T>G c.790-11T>G (n.790-11T>G) | gnomAD v4 |
19 | g.18596802G>A | CA2583602724 | CRLF1 | c.856-12C>T (n.856-12C>T) c.321-12C>T c.790-12C>T (n.790-12C>T) | gnomAD v4 |
19 | g.18596802G>C | CA632626057 | CRLF1 | c.856-12C>G (n.856-12C>G) c.321-12C>G c.790-12C>G (n.790-12C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596802G= | CA2326432306 | CRLF1 | c.856-12C= (n.856-12C=) c.321-12C= c.790-12C= (n.790-12C=) | |
19 | g.18596803G>A | CA2576724683 | CRLF1 | c.856-13C>T (n.856-13C>T) c.321-13C>T c.790-13C>T (n.790-13C>T) | gnomAD v4 |
19 | g.18596805C= | CA2326432307 | CRLF1 | c.856-15G= (n.856-15G=) c.321-15G= c.790-15G= (n.790-15G=) | |
19 | g.18596805C>G | CA632626058 | CRLF1 | c.856-15G>C (n.856-15G>C) c.321-15G>C c.790-15G>C (n.790-15G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596806A= | CA2326432308 | CRLF1 | c.856-16T= (n.856-16T=) c.321-16T= c.790-16T= (n.790-16T=) | |
19 | g.18596806A>G | CA306260413 | CRLF1 | c.856-16T>C (n.856-16T>C) c.321-16T>C c.790-16T>C (n.790-16T>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596806A>T | CA2583602726 | CRLF1 | c.856-16T>A (n.856-16T>A) c.321-16T>A c.790-16T>A (n.790-16T>A) | gnomAD v4 |
19 | g.18596807A>G | CA2576724684 | CRLF1 | c.856-17T>C (n.856-17T>C) c.321-17T>C c.790-17T>C (n.790-17T>C) | |
19 | g.18596807_18596808delinsAG | CA2326432309 | CRLF1 | c.856-18_856-17delinsCT (n.856-18_856-17delinsCT) c.321-18_321-17delinsCT c.790-18_790-17delinsCT (n.790-18_790-17delinsCT) | |
19 | g.18596808G>A | CA2326432312 | CRLF1 | c.856-18C>T (n.856-18C>T) c.321-18C>T c.790-18C>T (n.790-18C>T) | dbSNP gnomAD v4 |
19 | g.18596808G= | CA2326432310 | CRLF1 | c.856-18C= (n.856-18C=) c.321-18C= c.790-18C= (n.790-18C=) | |
19 | g.18596808G>T | CA2583602727 | CRLF1 | c.856-18C>A (n.856-18C>A) c.321-18C>A c.790-18C>A (n.790-18C>A) | gnomAD v4 |
19 | g.18596809del | CA2326432311 | CRLF1 | c.856-18del (n.856-18del) c.321-18del c.790-18del (n.790-18del) | dbSNP gnomAD v4 |
19 | g.18596810T>C | CA306260417 | CRLF1 | c.856-20A>G (n.856-20A>G) c.321-20A>G c.790-20A>G (n.790-20A>G) | dbSNP |
19 | g.18596810T= | CA2326432313 | CRLF1 | c.856-20A= (n.856-20A=) c.321-20A= c.790-20A= (n.790-20A=) | |
19 | g.18596811C>A | CA2813827711 | CRLF1 | c.856-21G>T (n.856-21G>T) c.321-21G>T c.790-21G>T (n.790-21G>T) | |
19 | g.18596811C= | CA2326432315 | CRLF1 | c.856-21G= (n.856-21G=) c.321-21G= c.790-21G= (n.790-21G=) | |
19 | g.18596811C>T | CA632626059 | CRLF1 | c.856-21G>A (n.856-21G>A) c.321-21G>A c.790-21G>A (n.790-21G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596811_18596816delinsCAGAGT | CA2326432314 | CRLF1 | c.856-26_856-21delinsACTCTG (n.856-26_856-21delinsACTCTG) c.321-26_321-21delinsACTCTG c.790-26_790-21delinsACTCTG (n.790-26_790-21delinsACTCTG) | |
19 | g.18596812A= | CA2326432316 | CRLF1 | c.856-22T= (n.856-22T=) c.321-22T= c.790-22T= (n.790-22T=) | |
19 | g.18596812A>C | CA9314066 | CRLF1 | c.856-22T>G (n.856-22T>G) c.321-22T>G c.790-22T>G (n.790-22T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596812A>G | CA632626060 | CRLF1 | c.856-22T>C (n.856-22T>C) c.321-22T>C c.790-22T>C (n.790-22T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596814_18596815del | CA2583602728 | CRLF1 | c.856-23_856-22del (n.856-23_856-22del) c.321-23_321-22del c.790-23_790-22del (n.790-23_790-22del) | gnomAD v4 |
19 | g.18596816_18596820del | CA9314065 | CRLF1 | c.856-26_856-22del (n.856-26_856-22del) c.321-26_321-22del c.790-26_790-22del (n.790-26_790-22del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596813G>C | CA2583602730 | CRLF1 | c.856-23C>G (n.856-23C>G) c.321-23C>G c.790-23C>G (n.790-23C>G) | gnomAD v4 |
19 | g.18596813G>T | CA2583602731 | CRLF1 | c.856-23C>A (n.856-23C>A) c.321-23C>A c.790-23C>A (n.790-23C>A) | gnomAD v4 |
19 | g.18596814A= | CA2326432317 | CRLF1 | c.856-24T= (n.856-24T=) c.321-24T= c.790-24T= (n.790-24T=) | |
19 | g.18596814A>C | CA2583602733 | CRLF1 | c.856-24T>G (n.856-24T>G) c.321-24T>G c.790-24T>G (n.790-24T>G) | gnomAD v4 |
19 | g.18596814A>G | CA9314067 | CRLF1 | c.856-24T>C (n.856-24T>C) c.321-24T>C c.790-24T>C (n.790-24T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596815G>A | CA632626061 | CRLF1 | c.856-25C>T (n.856-25C>T) c.321-25C>T c.790-25C>T (n.790-25C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596815G= | CA2326432318 | CRLF1 | c.856-25C= (n.856-25C=) c.321-25C= c.790-25C= (n.790-25C=) | |
19 | g.18596816T>C | CA2576724685 | CRLF1 | c.856-26A>G (n.856-26A>G) c.321-26A>G c.790-26A>G (n.790-26A>G) | |
19 | g.18596817A= | CA2326432319 | CRLF1 | c.856-27T= (n.856-27T=) c.321-27T= c.790-27T= (n.790-27T=) | |
19 | g.18596818G>A | CA2583602734 | CRLF1 | c.856-28C>T (n.856-28C>T) c.321-28C>T c.790-28C>T (n.790-28C>T) | gnomAD v4 |
19 | g.18596818G>C | CA2583602735 | CRLF1 | c.856-28C>G (n.856-28C>G) c.321-28C>G c.790-28C>G (n.790-28C>G) | gnomAD v4 |
19 | g.18596818G= | CA2326432320 | CRLF1 | c.856-28C= (n.856-28C=) c.321-28C= c.790-28C= (n.790-28C=) | |
19 | g.18596818G>T | CA2326432321 | CRLF1 | c.856-28C>A (n.856-28C>A) c.321-28C>A c.790-28C>A (n.790-28C>A) | dbSNP |
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.18596820G>A | CA306260422 | CRLF1 | c.856-30C>T (n.856-30C>T) c.321-30C>T c.790-30C>T (n.790-30C>T) | dbSNP |
19 | g.18596820G= | CA2326432323 | CRLF1 | c.856-30C= (n.856-30C=) c.321-30C= c.790-30C= (n.790-30C=) | |
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.18596821G>A | CA306260423 | CRLF1 | c.856-31C>T (n.856-31C>T) c.321-31C>T c.790-31C>T (n.790-31C>T) | dbSNP gnomAD v4 |
19 | g.18596821G= | CA2326432325 | CRLF1 | c.856-31C= (n.856-31C=) c.321-31C= c.790-31C= (n.790-31C=) |