| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.100781309_100781310delinsTC | CA1931936373 | PAX2 | c.653_654delinsTC (p.Ile218=) c.560_561delinsTC (p.Ile187=) c.542_543delinsTC (p.Ile181=) c.557_558delinsTC (p.Ile186=) n.281_282delinsTC c.572_573delinsTC (p.Ile191=) n.275_276delinsTC | |
| 10 | g.100781310del | CA256964 | PAX2 | c.654del (p.Asn219MetfsTer?) c.561del (p.Asn188MetfsTer?) c.543del (p.Asn182MetfsTer?) c.558del (p.Asn187MetfsTer?) n.282del c.573del (p.Asn192MetfsTer?) n.276del | ClinVar dbSNP |
| 10 | g.100781310C>A | CA471215917 | PAX2 | c.654C>A (p.Ile218=) c.561C>A (p.Ile187=) c.543C>A (p.Ile181=) c.558C>A (p.Ile186=) n.282C>A c.573C>A (p.Ile191=) n.276C>A | |
| 10 | g.100781310C= | CA1931936382 | PAX2 | c.654C= (p.Ile218=) c.561C= (p.Ile187=) c.543C= (p.Ile181=) c.558C= (p.Ile186=) n.282C= c.573C= (p.Ile191=) n.276C= | |
| 10 | g.100781310C>G | CA378258555 | PAX2 | c.654C>G (p.Ile218Met) c.561C>G (p.Ile187Met) c.543C>G (p.Ile181Met) c.558C>G (p.Ile186Met) n.282C>G c.573C>G (p.Ile191Met) n.276C>G | |
| 10 | g.100781310C>T | CA471215918 | PAX2 | c.654C>T (p.Ile218=) c.561C>T (p.Ile187=) c.543C>T (p.Ile181=) c.558C>T (p.Ile186=) n.282C>T c.573C>T (p.Ile191=) n.276C>T | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.100781311A>C | CA378258556 | PAX2 | c.655A>C (p.Asn219His) c.562A>C (p.Asn188His) c.544A>C (p.Asn182His) c.559A>C (p.Asn187His) n.283A>C c.574A>C (p.Asn192His) n.277A>C | |
| 10 | g.100781311A>G | CA378258557 | PAX2 | c.655A>G (p.Asn219Asp) c.562A>G (p.Asn188Asp) c.544A>G (p.Asn182Asp) c.559A>G (p.Asn187Asp) n.283A>G c.574A>G (p.Asn192Asp) n.277A>G | ClinVar |
| 10 | g.100781311A>T | CA378258558 | PAX2 | c.655A>T (p.Asn219Tyr) c.562A>T (p.Asn188Tyr) c.544A>T (p.Asn182Tyr) c.559A>T (p.Asn187Tyr) n.283A>T c.574A>T (p.Asn192Tyr) n.277A>T | |
| 10 | g.100781312A= | CA1931936386 | PAX2 | c.656A= (p.Asn219=) c.563A= (p.Asn188=) c.545A= (p.Asn182=) c.560A= (p.Asn187=) n.284A= c.575A= (p.Asn192=) n.278A= | |
| 10 | g.100781312A>C | CA378258559 | PAX2 | c.656A>C (p.Asn219Thr) c.563A>C (p.Asn188Thr) c.545A>C (p.Asn182Thr) c.560A>C (p.Asn187Thr) n.284A>C c.575A>C (p.Asn192Thr) n.278A>C | |
| 10 | g.100781312A>G | CA5650763 | PAX2 | c.656A>G (p.Asn219Ser) c.563A>G (p.Asn188Ser) c.545A>G (p.Asn182Ser) c.560A>G (p.Asn187Ser) n.284A>G c.575A>G (p.Asn192Ser) n.278A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.100781312A>T | CA378258560 | PAX2 | c.656A>T (p.Asn219Ile) c.563A>T (p.Asn188Ile) c.545A>T (p.Asn182Ile) c.560A>T (p.Asn187Ile) n.284A>T c.575A>T (p.Asn192Ile) n.278A>T | |
| 10 | g.100781313T>A | CA378258561 | PAX2 | c.657T>A (p.Asn219Lys) c.564T>A (p.Asn188Lys) c.546T>A (p.Asn182Lys) c.561T>A (p.Asn187Lys) n.285T>A c.576T>A (p.Asn192Lys) n.279T>A | |
| 10 | g.100781313T>C | CA471215919 | PAX2 | c.657T>C (p.Asn219=) c.564T>C (p.Asn188=) c.546T>C (p.Asn182=) c.561T>C (p.Asn187=) n.285T>C c.576T>C (p.Asn192=) n.279T>C | |
| 10 | g.100781313T>G | CA378258562 | PAX2 | c.657T>G (p.Asn219Lys) c.564T>G (p.Asn188Lys) c.546T>G (p.Asn182Lys) c.561T>G (p.Asn187Lys) n.285T>G c.576T>G (p.Asn192Lys) n.279T>G | |
| 10 | g.100781314G>A | CA378258563 | PAX2 | c.658G>A (p.Gly220Arg) c.565G>A (p.Gly189Arg) c.547G>A (p.Gly183Arg) c.562G>A (p.Gly188Arg) n.286G>A c.577G>A (p.Gly193Arg) n.280G>A | ClinVar dbSNP |
| 10 | g.100781314G>C | CA378258564 | PAX2 | c.658G>C (p.Gly220Arg) c.565G>C (p.Gly189Arg) c.547G>C (p.Gly183Arg) c.562G>C (p.Gly188Arg) n.286G>C c.577G>C (p.Gly193Arg) n.280G>C | |
| 10 | g.100781314G= | CA1931936393 | PAX2 | c.658G= (p.Gly220=) c.565G= (p.Gly189=) c.547G= (p.Gly183=) c.562G= (p.Gly188=) n.286G= c.577G= (p.Gly193=) n.280G= | |
| 10 | g.100781314G>T | CA378258565 | PAX2 | c.658G>T (p.Gly220Trp) c.565G>T (p.Gly189Trp) c.547G>T (p.Gly183Trp) c.562G>T (p.Gly188Trp) n.286G>T c.577G>T (p.Gly193Trp) n.280G>T | |
| 10 | g.100781315G>A | CA378258568 | PAX2 | c.659G>A (p.Gly220Glu) c.566G>A (p.Gly189Glu) c.548G>A (p.Gly183Glu) c.563G>A (p.Gly188Glu) n.287G>A c.578G>A (p.Gly193Glu) n.281G>A | gnomAD v4 COSMIC COSMIC |
| 10 | g.100781315G>C | CA378258567 | PAX2 | c.659G>C (p.Gly220Ala) c.566G>C (p.Gly189Ala) c.548G>C (p.Gly183Ala) c.563G>C (p.Gly188Ala) n.287G>C c.578G>C (p.Gly193Ala) n.281G>C | |
| 10 | g.100781315G>T | CA378258566 | PAX2 | c.659G>T (p.Gly220Val) c.566G>T (p.Gly189Val) c.548G>T (p.Gly183Val) c.563G>T (p.Gly188Val) n.287G>T c.578G>T (p.Gly193Val) n.281G>T | |
| 10 | g.100781316G>A | CA471215920 | PAX2 | c.660G>A (p.Gly220=) c.567G>A (p.Gly189=) c.549G>A (p.Gly183=) c.564G>A (p.Gly188=) n.288G>A c.579G>A (p.Gly193=) n.282G>A | COSMIC COSMIC |
| 10 | g.100781316G>C | CA471215921 | PAX2 | c.660G>C (p.Gly220=) c.567G>C (p.Gly189=) c.549G>C (p.Gly183=) c.564G>C (p.Gly188=) n.288G>C c.579G>C (p.Gly193=) n.282G>C | |
| 10 | g.100781316G>T | CA471215922 | PAX2 | c.660G>T (p.Gly220=) c.567G>T (p.Gly189=) c.549G>T (p.Gly183=) c.564G>T (p.Gly188=) n.288G>T c.579G>T (p.Gly193=) n.282G>T | gnomAD v4 |
| 10 | g.100781316_100781317dup | CA2695212570 | PAX2 | c.660_661dup (p.Ile221ArgfsTer?) c.567_568dup (p.Ile190ArgfsTer?) c.549_550dup (p.Ile184ArgfsTer?) c.564_565dup (p.Ile189ArgfsTer?) n.288_289dup c.579_580dup (p.Ile194ArgfsTer?) n.282_283dup | |
| 10 | g.100781317A>C | CA378258569 | PAX2 | c.661A>C (p.Ile221Leu) c.568A>C (p.Ile190Leu) c.550A>C (p.Ile184Leu) c.565A>C (p.Ile189Leu) n.289A>C c.580A>C (p.Ile194Leu) n.283A>C | |
| 10 | g.100781317A>G | CA378258570 | PAX2 | c.661A>G (p.Ile221Val) c.568A>G (p.Ile190Val) c.550A>G (p.Ile184Val) c.565A>G (p.Ile189Val) n.289A>G c.580A>G (p.Ile194Val) n.283A>G | gnomAD v4 |
| 10 | g.100781317A>T | CA378258571 | PAX2 | c.661A>T (p.Ile221Phe) c.568A>T (p.Ile190Phe) c.550A>T (p.Ile184Phe) c.565A>T (p.Ile189Phe) n.289A>T c.580A>T (p.Ile194Phe) n.283A>T | |
| 10 | g.100781318T>A | CA378258572 | PAX2 | c.662T>A (p.Ile221Asn) c.569T>A (p.Ile190Asn) c.551T>A (p.Ile184Asn) c.566T>A (p.Ile189Asn) n.290T>A c.581T>A (p.Ile194Asn) n.284T>A | |
| 10 | g.100781318T>C | CA378258573 | PAX2 | c.662T>C (p.Ile221Thr) c.569T>C (p.Ile190Thr) c.551T>C (p.Ile184Thr) c.566T>C (p.Ile189Thr) n.290T>C c.581T>C (p.Ile194Thr) n.284T>C | |
| 10 | g.100781318T>G | CA378258574 | PAX2 | c.662T>G (p.Ile221Ser) c.569T>G (p.Ile190Ser) c.551T>G (p.Ile184Ser) c.566T>G (p.Ile189Ser) n.290T>G c.581T>G (p.Ile194Ser) n.284T>G | |
| 10 | g.100781319C>A | CA471215923 | PAX2 | c.663C>A (p.Ile221=) c.570C>A (p.Ile190=) c.552C>A (p.Ile184=) c.567C>A (p.Ile189=) n.291C>A c.582C>A (p.Ile194=) n.285C>A | gnomAD v4 |
| 10 | g.100781319C>G | CA378258575 | PAX2 | c.663C>G (p.Ile221Met) c.570C>G (p.Ile190Met) c.552C>G (p.Ile184Met) c.567C>G (p.Ile189Met) n.291C>G c.582C>G (p.Ile194Met) n.285C>G | gnomAD v4 |
| 10 | g.100781319C>T | CA471215924 | PAX2 | c.663C>T (p.Ile221=) c.570C>T (p.Ile190=) c.552C>T (p.Ile184=) c.567C>T (p.Ile189=) n.291C>T c.582C>T (p.Ile194=) n.285C>T | |
| 10 | g.100781320C>A | CA378258576 | PAX2 | c.664C>A (p.Leu222Met) c.571C>A (p.Leu191Met) c.553C>A (p.Leu185Met) c.568C>A (p.Leu190Met) n.292C>A c.583C>A (p.Leu195Met) n.286C>A | |
| 10 | g.100781320C= | CA1931936396 | PAX2 | c.664C= (p.Leu222=) c.571C= (p.Leu191=) c.553C= (p.Leu185=) c.568C= (p.Leu190=) n.292C= c.583C= (p.Leu195=) n.286C= | |
| 10 | g.100781320C>G | CA378258577 | PAX2 | c.664C>G (p.Leu222Val) c.571C>G (p.Leu191Val) c.553C>G (p.Leu185Val) c.568C>G (p.Leu190Val) n.292C>G c.583C>G (p.Leu195Val) n.286C>G | |
| 10 | g.100781320C>T | CA5650764 | PAX2 | c.664C>T (p.Leu222=) c.571C>T (p.Leu191=) c.553C>T (p.Leu185=) c.568C>T (p.Leu190=) n.292C>T c.583C>T (p.Leu195=) n.286C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.100781321T>A | CA378258578 | PAX2 | c.665T>A (p.Leu222Gln) c.572T>A (p.Leu191Gln) c.554T>A (p.Leu185Gln) c.569T>A (p.Leu190Gln) n.293T>A c.584T>A (p.Leu195Gln) n.287T>A | |
| 10 | g.100781321T>C | CA378258579 | PAX2 | c.665T>C (p.Leu222Pro) c.572T>C (p.Leu191Pro) c.554T>C (p.Leu185Pro) c.569T>C (p.Leu190Pro) n.293T>C c.584T>C (p.Leu195Pro) n.287T>C | |
| 10 | g.100781321T>G | CA378258580 | PAX2 | c.665T>G (p.Leu222Arg) c.572T>G (p.Leu191Arg) c.554T>G (p.Leu185Arg) c.569T>G (p.Leu190Arg) n.293T>G c.584T>G (p.Leu195Arg) n.287T>G | |
| 10 | g.100781322G>A | CA471215925 | PAX2 | c.666G>A (p.Leu222=) c.573G>A (p.Leu191=) c.555G>A (p.Leu185=) c.570G>A (p.Leu190=) n.294G>A c.585G>A (p.Leu195=) n.288G>A | |
| 10 | g.100781322G>C | CA471215926 | PAX2 | c.666G>C (p.Leu222=) c.573G>C (p.Leu191=) c.555G>C (p.Leu185=) c.570G>C (p.Leu190=) n.294G>C c.585G>C (p.Leu195=) n.288G>C | |
| 10 | g.100781322G>T | CA471215927 | PAX2 | c.666G>T (p.Leu222=) c.573G>T (p.Leu191=) c.555G>T (p.Leu185=) c.570G>T (p.Leu190=) n.294G>T c.585G>T (p.Leu195=) n.288G>T | |
| 10 | g.100781325del | CA2573053222 | PAX2 | c.669del (p.Ile224PhefsTer?) c.576del (p.Ile193PhefsTer?) c.558del (p.Ile187PhefsTer?) c.573del (p.Ile192PhefsTer?) n.297del c.588del (p.Ile197PhefsTer?) n.291del | ClinVar dbSNP |
| 10 | g.100781323G>A | CA378258583 | PAX2 | c.667G>A (p.Gly223Arg) c.574G>A (p.Gly192Arg) c.556G>A (p.Gly186Arg) c.571G>A (p.Gly191Arg) n.295G>A c.586G>A (p.Gly196Arg) n.289G>A | COSMIC COSMIC |
| 10 | g.100781323G>C | CA378258582 | PAX2 | c.667G>C (p.Gly223Arg) c.574G>C (p.Gly192Arg) c.556G>C (p.Gly186Arg) c.571G>C (p.Gly191Arg) n.295G>C c.586G>C (p.Gly196Arg) n.289G>C | ClinVar dbSNP gnomAD v4 |
| 10 | g.100781323G= | CA1931936399 | PAX2 | c.667G= (p.Gly223=) c.574G= (p.Gly192=) c.556G= (p.Gly186=) c.571G= (p.Gly191=) n.295G= c.586G= (p.Gly196=) n.289G= |