| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10137026_10145481del | CA2499216340 | ClinVar | ||
| 3 | g.10139220_10148953del | CA2499216342 | ClinVar | ||
| 3 | g.10140648_10148414del | CA2499216345 | ClinVar | ||
| 3 | g.10141635_10149787del | CA2581463472 | VHL | c.-213_464del c.-213_341del c.-213_*18del | |
| 3 | g.10141847_10149786del | CA1139532106 | VHL | c.-1_*141-1del c.-1_575-1del c.-1_464-1del c.-1_341-1del c.-1_*18-1del | |
| 3 | g.10141849_10149966del | CA2581463473 | VHL | c.2_*320del c.2_*1del c.2_*197del | |
| 3 | g.10141848_10146636del | CA2581463475 | VHL | c.1_*140del c.1_600-3151del c.1_463del c.1_341-3151del c.1_*18-3151del | |
| 3 | g.10142071_10149891del | CA1139532528 | VHL | c.224_*245del c.224_704del c.224_679del c.224_568del c.224_445del c.224_*122del | |
| 3 | g.10142408_10148376del | CA2499216353 | VHL | c.340+221_*141-1411del c.340+221_600-1411del c.340+221_464-328del c.340+221_464-1411del c.340+221_341-1411del (n.340+221_341-1411del) c.340+221_*18-1411del | ClinVar |
| 3 | g.10142470_10147135del | CA2499216354 | VHL | c.340+283_*140+499del c.340+283_600-2652del c.340+283_463+499del c.340+283_341-2652del (n.340+283_341-2652del) c.340+283_*18-2652del | ClinVar |
| 3 | g.10142494_10148596del | CA2499216355 | VHL | c.341-269_*141-1191del c.341-269_600-1191del c.340+307_464-108del c.340+307_464-1191del c.340+307_341-1191del (n.340+307_341-1191del) c.341-269_*18-1191del | ClinVar |
| 3 | g.10142552_10148878del | CA2499216356 | VHL | c.341-211_*141-909del c.341-211_600-909del c.340+365_574+64del c.340+365_464-909del c.340+365_341-909del (n.340+365_341-909del) c.341-211_*18-909del | ClinVar |
| 3 | g.10142615_10148584del | CA2499216357 | VHL | c.341-148_*141-1203del c.341-148_600-1203del c.340+428_464-120del c.340+428_464-1203del c.340+428_341-1203del (n.340+428_341-1203del) n.70_600-1203del c.341-148_*18-1203del | ClinVar |
| 3 | g.10142631_10148600del | CA2499216358 | VHL | c.341-132_*141-1187del c.341-132_600-1187del c.340+444_464-104del c.340+444_464-1187del c.340+444_341-1187del (n.340+444_341-1187del) n.86_600-1187del c.341-132_*18-1187del | ClinVar |
| 3 | g.10143181_10152298del | CA2499216371 | VHL | c.340+994_*2333del c.*17+160_*2529del | ClinVar |
| 3 | g.10143206_10147086del | CA2499216372 | VHL | c.*17+185_*140+450del c.599+185_600-2701del (n.599+185_600-2701del) c.340+1019_463+450del c.340+1019_341-2701del (n.340+1019_341-2701del) n.476+185_599+450del c.*17+185_*18-2701del (n.*17+185_*18-2701del) | ClinVar |
| 3 | g.10143730_10148596del | CA2499216373 | VHL | c.*17+709_*141-1191del c.599+709_600-1191del (n.599+709_600-1191del) c.340+1543_464-108del c.340+1543_464-1191del c.340+1543_341-1191del (n.340+1543_341-1191del) n.476+709_600-1191del c.*17+709_*18-1191del (n.*17+709_*18-1191del) | ClinVar |
| 3 | g.10143767_10148310del | CA2499216374 | VHL | c.*17+746_*141-1477del c.599+746_600-1477del (n.599+746_600-1477del) c.340+1580_464-394del c.340+1580_464-1477del c.340+1580_341-1477del (n.340+1580_341-1477del) n.476+746_600-1477del c.*17+746_*18-1477del (n.*17+746_*18-1477del) | ClinVar |
| 3 | g.10144415A= | CA1345068626 | VHL | c.*17+1394A= (n.*17+1394A=) c.599+1394A= (n.599+1394A=) c.341-2099A= (n.341-2099A=) c.340+2228A= (n.340+2228A=) n.476+1394A= | |
| 3 | g.10144415A>G | CA896161410 | VHL | c.*17+1394A>G (n.*17+1394A>G) c.599+1394A>G (n.599+1394A>G) c.341-2099A>G (n.341-2099A>G) c.340+2228A>G (n.340+2228A>G) n.476+1394A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144415A>T | CA70047838 | VHL | c.*17+1394A>T (n.*17+1394A>T) c.599+1394A>T (n.599+1394A>T) c.341-2099A>T (n.341-2099A>T) c.340+2228A>T (n.340+2228A>T) n.476+1394A>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144417A= | CA1345068627 | VHL | c.*17+1396A= (n.*17+1396A=) c.599+1396A= (n.599+1396A=) c.341-2097A= (n.341-2097A=) c.340+2230A= (n.340+2230A=) n.476+1396A= | |
| 3 | g.10144417A>G | CA1345068628 | VHL | c.*17+1396A>G (n.*17+1396A>G) c.599+1396A>G (n.599+1396A>G) c.341-2097A>G (n.341-2097A>G) c.340+2230A>G (n.340+2230A>G) n.476+1396A>G | dbSNP |
| 3 | g.10144418G>A | CA1345068630 | VHL | c.*17+1397G>A (n.*17+1397G>A) c.599+1397G>A (n.599+1397G>A) c.341-2096G>A (n.341-2096G>A) c.340+2231G>A (n.340+2231G>A) n.476+1397G>A | dbSNP |
| 3 | g.10144418G= | CA1345068629 | VHL | c.*17+1397G= (n.*17+1397G=) c.599+1397G= (n.599+1397G=) c.341-2096G= (n.341-2096G=) c.340+2231G= (n.340+2231G=) n.476+1397G= | |
| 3 | g.10144418G>T | CA70047843 | VHL | c.*17+1397G>T (n.*17+1397G>T) c.599+1397G>T (n.599+1397G>T) c.341-2096G>T (n.341-2096G>T) c.340+2231G>T (n.340+2231G>T) n.476+1397G>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144420G= | CA1345068631 | VHL | c.*17+1399G= (n.*17+1399G=) c.599+1399G= (n.599+1399G=) c.341-2094G= (n.341-2094G=) c.340+2233G= (n.340+2233G=) n.476+1399G= | |
| 3 | g.10144422dup | CA1345068632 | VHL | c.*17+1401dup (n.*17+1401dup) c.599+1401dup (n.599+1401dup) c.341-2092dup (n.341-2092dup) c.340+2235dup (n.340+2235dup) n.476+1401dup | dbSNP |
| 3 | g.10144424T>C | CA647445663 | VHL | c.*17+1403T>C (n.*17+1403T>C) c.599+1403T>C (n.599+1403T>C) c.341-2090T>C (n.341-2090T>C) c.340+2237T>C (n.340+2237T>C) n.476+1403T>C | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10144424T>G | CA1044996301 | VHL | c.*17+1403T>G (n.*17+1403T>G) c.599+1403T>G (n.599+1403T>G) c.341-2090T>G (n.341-2090T>G) c.340+2237T>G (n.340+2237T>G) n.476+1403T>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144424T= | CA1345068633 | VHL | c.*17+1403T= (n.*17+1403T=) c.599+1403T= (n.599+1403T=) c.341-2090T= (n.341-2090T=) c.340+2237T= (n.340+2237T=) n.476+1403T= | |
| 3 | g.10144428A= | CA1345068634 | VHL | c.*17+1407A= (n.*17+1407A=) c.599+1407A= (n.599+1407A=) c.341-2086A= (n.341-2086A=) c.340+2241A= (n.340+2241A=) n.476+1407A= | |
| 3 | g.10144428A>G | CA896161414 | VHL | c.*17+1407A>G (n.*17+1407A>G) c.599+1407A>G (n.599+1407A>G) c.341-2086A>G (n.341-2086A>G) c.340+2241A>G (n.340+2241A>G) n.476+1407A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144430G>A | CA540876160 | VHL | c.*17+1409G>A (n.*17+1409G>A) c.599+1409G>A (n.599+1409G>A) c.341-2084G>A (n.341-2084G>A) c.340+2243G>A (n.340+2243G>A) n.476+1409G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144430G= | CA1345068635 | VHL | c.*17+1409G= (n.*17+1409G=) c.599+1409G= (n.599+1409G=) c.341-2084G= (n.341-2084G=) c.340+2243G= (n.340+2243G=) n.476+1409G= | |
| 3 | g.10144431G>A | CA2755195178 | VHL | c.*17+1410G>A (n.*17+1410G>A) c.599+1410G>A (n.599+1410G>A) c.341-2083G>A (n.341-2083G>A) c.340+2244G>A (n.340+2244G>A) n.476+1410G>A | |
| 3 | g.10144431G= | CA1345068636 | VHL | c.*17+1410G= (n.*17+1410G=) c.599+1410G= (n.599+1410G=) c.341-2083G= (n.341-2083G=) c.340+2244G= (n.340+2244G=) n.476+1410G= | |
| 3 | g.10144431G>T | CA1345068637 | VHL | c.*17+1410G>T (n.*17+1410G>T) c.599+1410G>T (n.599+1410G>T) c.341-2083G>T (n.341-2083G>T) c.340+2244G>T (n.340+2244G>T) n.476+1410G>T | dbSNP |
| 3 | g.10144433_10144434delinsGC | CA1345068638 | VHL | c.*17+1412_*17+1413delinsGC (n.*17+1412_*17+1413delinsGC) c.599+1412_599+1413delinsGC (n.599+1412_599+1413delinsGC) c.341-2081_341-2080delinsGC (n.341-2081_341-2080delinsGC) c.340+2246_340+2247delinsGC (n.340+2246_340+2247delinsGC) n.476+1412_476+1413delinsGC | |
| 3 | g.10144435del | CA540876162 | VHL | c.*17+1414del (n.*17+1414del) c.599+1414del (n.599+1414del) c.341-2079del (n.341-2079del) c.340+2248del (n.340+2248del) n.476+1414del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144435C= | CA1345068639 | VHL | c.*17+1414C= (n.*17+1414C=) c.599+1414C= (n.599+1414C=) c.341-2079C= (n.341-2079C=) c.340+2248C= (n.340+2248C=) n.476+1414C= | |
| 3 | g.10144435C>T | CA896161415 | VHL | c.*17+1414C>T (n.*17+1414C>T) c.599+1414C>T (n.599+1414C>T) c.341-2079C>T (n.341-2079C>T) c.340+2248C>T (n.340+2248C>T) n.476+1414C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144436T>G | CA1345068641 | VHL | c.*17+1415T>G (n.*17+1415T>G) c.599+1415T>G (n.599+1415T>G) c.341-2078T>G (n.341-2078T>G) c.340+2249T>G (n.340+2249T>G) n.476+1415T>G | dbSNP |
| 3 | g.10144436T= | CA1345068640 | VHL | c.*17+1415T= (n.*17+1415T=) c.599+1415T= (n.599+1415T=) c.341-2078T= (n.341-2078T=) c.340+2249T= (n.340+2249T=) n.476+1415T= | |
| 3 | g.10144446T>A | CA2540990916 | VHL | c.*17+1425T>A (n.*17+1425T>A) c.599+1425T>A (n.599+1425T>A) c.341-2068T>A (n.341-2068T>A) c.340+2259T>A (n.340+2259T>A) n.476+1425T>A | |
| 3 | g.10144446T= | CA1345068642 | VHL | c.*17+1425T= (n.*17+1425T=) c.599+1425T= (n.599+1425T=) c.341-2068T= (n.341-2068T=) c.340+2259T= (n.340+2259T=) n.476+1425T= | |
| 3 | g.10144447G>C | CA896161417 | VHL | c.*17+1426G>C (n.*17+1426G>C) c.599+1426G>C (n.599+1426G>C) c.341-2067G>C (n.341-2067G>C) c.340+2260G>C (n.340+2260G>C) n.476+1426G>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144447G= | CA1345068644 | VHL | c.*17+1426G= (n.*17+1426G=) c.599+1426G= (n.599+1426G=) c.341-2067G= (n.341-2067G=) c.340+2260G= (n.340+2260G=) n.476+1426G= | |
| 3 | g.10144447dup | CA1345068643 | VHL | c.*17+1426dup (n.*17+1426dup) c.599+1426dup (n.599+1426dup) c.341-2067dup (n.341-2067dup) c.340+2260dup (n.340+2260dup) n.476+1426dup | dbSNP |
| 3 | g.10144448C= | CA1345068645 | VHL | c.*17+1427C= (n.*17+1427C=) c.599+1427C= (n.599+1427C=) c.341-2066C= (n.341-2066C=) c.340+2261C= (n.340+2261C=) n.476+1427C= | |
| 3 | g.10144448C>G | CA1044996314 | VHL | c.*17+1427C>G (n.*17+1427C>G) c.599+1427C>G (n.599+1427C>G) c.341-2066C>G (n.341-2066C>G) c.340+2261C>G (n.340+2261C>G) n.476+1427C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144450G>C | CA1345068646 | VHL | c.*17+1429G>C (n.*17+1429G>C) c.599+1429G>C (n.599+1429G>C) c.341-2064G>C (n.341-2064G>C) c.340+2263G>C (n.340+2263G>C) n.476+1429G>C | dbSNP |
| 3 | g.10144450G= | CA1345068647 | VHL | c.*17+1429G= (n.*17+1429G=) c.599+1429G= (n.599+1429G=) c.341-2064G= (n.341-2064G=) c.340+2263G= (n.340+2263G=) n.476+1429G= | |
| 3 | g.10144454T>C | CA1345068649 | VHL | c.*17+1433T>C (n.*17+1433T>C) c.599+1433T>C (n.599+1433T>C) c.341-2060T>C (n.341-2060T>C) c.340+2267T>C (n.340+2267T>C) n.476+1433T>C | dbSNP |
| 3 | g.10144454T= | CA1345068648 | VHL | c.*17+1433T= (n.*17+1433T=) c.599+1433T= (n.599+1433T=) c.341-2060T= (n.341-2060T=) c.340+2267T= (n.340+2267T=) n.476+1433T= | |
| 3 | g.10144456T>C | CA540876164 | VHL | c.*17+1435T>C (n.*17+1435T>C) c.599+1435T>C (n.599+1435T>C) c.341-2058T>C (n.341-2058T>C) c.340+2269T>C (n.340+2269T>C) n.476+1435T>C | dbSNP gnomAD v2 |
| 3 | g.10144456T= | CA1345068650 | VHL | c.*17+1435T= (n.*17+1435T=) c.599+1435T= (n.599+1435T=) c.341-2058T= (n.341-2058T=) c.340+2269T= (n.340+2269T=) n.476+1435T= | |
| 3 | g.10144457A= | CA1345068651 | VHL | c.*17+1436A= (n.*17+1436A=) c.599+1436A= (n.599+1436A=) c.341-2057A= (n.341-2057A=) c.340+2270A= (n.340+2270A=) n.476+1436A= | |
| 3 | g.10144457A>G | CA896161423 | VHL | c.*17+1436A>G (n.*17+1436A>G) c.599+1436A>G (n.599+1436A>G) c.341-2057A>G (n.341-2057A>G) c.340+2270A>G (n.340+2270A>G) n.476+1436A>G | dbSNP |
| 3 | g.10144458G>T | CA2540151102 | VHL | c.*17+1437G>T (n.*17+1437G>T) c.599+1437G>T (n.599+1437G>T) c.341-2056G>T (n.341-2056G>T) c.340+2271G>T (n.340+2271G>T) n.476+1437G>T | |
| 3 | g.10144460C= | CA1345068652 | VHL | c.*17+1439C= (n.*17+1439C=) c.599+1439C= (n.599+1439C=) c.341-2054C= (n.341-2054C=) c.340+2273C= (n.340+2273C=) n.476+1439C= | |
| 3 | g.10144460C>G | CA896161425 | VHL | c.*17+1439C>G (n.*17+1439C>G) c.599+1439C>G (n.599+1439C>G) c.341-2054C>G (n.341-2054C>G) c.340+2273C>G (n.340+2273C>G) n.476+1439C>G | dbSNP |
| 3 | g.10144463G>A | CA70047847 | VHL | c.*17+1442G>A (n.*17+1442G>A) c.599+1442G>A (n.599+1442G>A) c.341-2051G>A (n.341-2051G>A) c.340+2276G>A (n.340+2276G>A) n.476+1442G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144463G= | CA1345068653 | VHL | c.*17+1442G= (n.*17+1442G=) c.599+1442G= (n.599+1442G=) c.341-2051G= (n.341-2051G=) c.340+2276G= (n.340+2276G=) n.476+1442G= | |
| 3 | g.10144466A= | CA1345068654 | VHL | c.*17+1445A= (n.*17+1445A=) c.599+1445A= (n.599+1445A=) c.341-2048A= (n.341-2048A=) c.340+2279A= (n.340+2279A=) n.476+1445A= | |
| 3 | g.10144466A>G | CA1345068655 | VHL | c.*17+1445A>G (n.*17+1445A>G) c.599+1445A>G (n.599+1445A>G) c.341-2048A>G (n.341-2048A>G) c.340+2279A>G (n.340+2279A>G) n.476+1445A>G | dbSNP |
| 3 | g.10144468A= | CA1345068656 | VHL | c.*17+1447A= (n.*17+1447A=) c.599+1447A= (n.599+1447A=) c.341-2046A= (n.341-2046A=) c.340+2281A= (n.340+2281A=) n.476+1447A= | |
| 3 | g.10144468A>G | CA1345068657 | VHL | c.*17+1447A>G (n.*17+1447A>G) c.599+1447A>G (n.599+1447A>G) c.341-2046A>G (n.341-2046A>G) c.340+2281A>G (n.340+2281A>G) n.476+1447A>G | dbSNP |
| 3 | g.10144469del | CA2518004109 | VHL | c.*17+1448del (n.*17+1448del) c.599+1448del (n.599+1448del) c.341-2045del (n.341-2045del) c.340+2282del (n.340+2282del) n.476+1448del | |
| 3 | g.10144469C>T | CA2755195179 | VHL | c.*17+1448C>T (n.*17+1448C>T) c.599+1448C>T (n.599+1448C>T) c.341-2045C>T (n.341-2045C>T) c.340+2282C>T (n.340+2282C>T) n.476+1448C>T | |
| 3 | g.10144471G>A | CA540876166 | VHL | c.*17+1450G>A (n.*17+1450G>A) c.599+1450G>A (n.599+1450G>A) c.341-2043G>A (n.341-2043G>A) c.340+2284G>A (n.340+2284G>A) n.476+1450G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144471G= | CA1345068658 | VHL | c.*17+1450G= (n.*17+1450G=) c.599+1450G= (n.599+1450G=) c.341-2043G= (n.341-2043G=) c.340+2284G= (n.340+2284G=) n.476+1450G= | |
| 3 | g.10144471G>T | CA1044996319 | VHL | c.*17+1450G>T (n.*17+1450G>T) c.599+1450G>T (n.599+1450G>T) c.341-2043G>T (n.341-2043G>T) c.340+2284G>T (n.340+2284G>T) n.476+1450G>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144472C= | CA1345068659 | VHL | c.*17+1451C= (n.*17+1451C=) c.599+1451C= (n.599+1451C=) c.341-2042C= (n.341-2042C=) c.340+2285C= (n.340+2285C=) n.476+1451C= | |
| 3 | g.10144472C>G | CA540876167 | VHL | c.*17+1451C>G (n.*17+1451C>G) c.599+1451C>G (n.599+1451C>G) c.341-2042C>G (n.341-2042C>G) c.340+2285C>G (n.340+2285C>G) n.476+1451C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144476A>C | CA1044996321 | VHL | c.*17+1455A>C (n.*17+1455A>C) c.599+1455A>C (n.599+1455A>C) c.341-2038A>C (n.341-2038A>C) c.340+2289A>C (n.340+2289A>C) n.476+1455A>C | gnomAD v3 gnomAD v4 |
| 3 | g.10144477C= | CA1345068660 | VHL | c.*17+1456C= (n.*17+1456C=) c.599+1456C= (n.599+1456C=) c.341-2037C= (n.341-2037C=) c.340+2290C= (n.340+2290C=) n.476+1456C= | |
| 3 | g.10144477C>G | CA1345068661 | VHL | c.*17+1456C>G (n.*17+1456C>G) c.599+1456C>G (n.599+1456C>G) c.341-2037C>G (n.341-2037C>G) c.340+2290C>G (n.340+2290C>G) n.476+1456C>G | dbSNP |
| 3 | g.10144479C= | CA1345068662 | VHL | c.*17+1458C= (n.*17+1458C=) c.599+1458C= (n.599+1458C=) c.341-2035C= (n.341-2035C=) c.340+2292C= (n.340+2292C=) n.476+1458C= | |
| 3 | g.10144479C>G | CA1044996325 | VHL | c.*17+1458C>G (n.*17+1458C>G) c.599+1458C>G (n.599+1458C>G) c.341-2035C>G (n.341-2035C>G) c.340+2292C>G (n.340+2292C>G) n.476+1458C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144479C>T | CA70047850 | VHL | c.*17+1458C>T (n.*17+1458C>T) c.599+1458C>T (n.599+1458C>T) c.341-2035C>T (n.341-2035C>T) c.340+2292C>T (n.340+2292C>T) n.476+1458C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144481G>A | CA896161459 | VHL | c.*17+1460G>A (n.*17+1460G>A) c.599+1460G>A (n.599+1460G>A) c.341-2033G>A (n.341-2033G>A) c.340+2294G>A (n.340+2294G>A) n.476+1460G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144481G= | CA1345068664 | VHL | c.*17+1460G= (n.*17+1460G=) c.599+1460G= (n.599+1460G=) c.341-2033G= (n.341-2033G=) c.340+2294G= (n.340+2294G=) n.476+1460G= | |
| 3 | g.10144481_10144485delinsGTCTC | CA1345068663 | VHL | c.*17+1460_*17+1464delinsGTCTC (n.*17+1460_*17+1464delinsGTCTC) c.599+1460_599+1464delinsGTCTC (n.599+1460_599+1464delinsGTCTC) c.341-2033_341-2029delinsGTCTC (n.341-2033_341-2029delinsGTCTC) c.340+2294_340+2298delinsGTCTC (n.340+2294_340+2298delinsGTCTC) n.476+1460_476+1464delinsGTCTC | |
| 3 | g.10144487_10144488del | CA70047859 | VHL | c.*17+1466_*17+1467del (n.*17+1466_*17+1467del) c.599+1466_599+1467del (n.599+1466_599+1467del) c.341-2027_341-2026del (n.341-2027_341-2026del) c.340+2300_340+2301del (n.340+2300_340+2301del) n.476+1466_476+1467del | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144485_10144488del | CA70047854 | VHL | c.*17+1464_*17+1467del (n.*17+1464_*17+1467del) c.599+1464_599+1467del (n.599+1464_599+1467del) c.341-2029_341-2026del (n.341-2029_341-2026del) c.340+2298_340+2301del (n.340+2298_340+2301del) n.476+1464_476+1467del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144486T>C | CA2755195180 | VHL | c.*17+1465T>C (n.*17+1465T>C) c.599+1465T>C (n.599+1465T>C) c.341-2028T>C (n.341-2028T>C) c.340+2299T>C (n.340+2299T>C) n.476+1465T>C | |
| 3 | g.10144487C= | CA1345068665 | VHL | c.*17+1466C= (n.*17+1466C=) c.599+1466C= (n.599+1466C=) c.341-2027C= (n.341-2027C=) c.340+2300C= (n.340+2300C=) n.476+1466C= | |
| 3 | g.10144488T>A | CA1044996336 | VHL | c.*17+1467T>A (n.*17+1467T>A) c.599+1467T>A (n.599+1467T>A) c.341-2026T>A (n.341-2026T>A) c.340+2301T>A (n.340+2301T>A) n.476+1467T>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144488T= | CA1345068666 | VHL | c.*17+1467T= (n.*17+1467T=) c.599+1467T= (n.599+1467T=) c.341-2026T= (n.341-2026T=) c.340+2301T= (n.340+2301T=) n.476+1467T= | |
| 3 | g.10144488dup | CA540876169 | VHL | c.*17+1467dup (n.*17+1467dup) c.599+1467dup (n.599+1467dup) c.341-2026dup (n.341-2026dup) c.340+2301dup (n.340+2301dup) n.476+1467dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144489A= | CA1345068667 | VHL | c.*17+1468A= (n.*17+1468A=) c.599+1468A= (n.599+1468A=) c.341-2025A= (n.341-2025A=) c.340+2302A= (n.340+2302A=) n.476+1468A= | |
| 3 | g.10144489A>G | CA1044996337 | VHL | c.*17+1468A>G (n.*17+1468A>G) c.599+1468A>G (n.599+1468A>G) c.341-2025A>G (n.341-2025A>G) c.340+2302A>G (n.340+2302A>G) n.476+1468A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144489A>T | CA1044996338 | VHL | c.*17+1468A>T (n.*17+1468A>T) c.599+1468A>T (n.599+1468A>T) c.341-2025A>T (n.341-2025A>T) c.340+2302A>T (n.340+2302A>T) n.476+1468A>T | gnomAD v3 gnomAD v4 |
| 3 | g.10144490T>A | CA1044996339 | VHL | c.*17+1469T>A (n.*17+1469T>A) c.599+1469T>A (n.599+1469T>A) c.341-2024T>A (n.341-2024T>A) c.340+2303T>A (n.340+2303T>A) n.476+1469T>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144490T>G | CA2592312614 | VHL | c.*17+1469T>G (n.*17+1469T>G) c.599+1469T>G (n.599+1469T>G) c.341-2024T>G (n.341-2024T>G) c.340+2303T>G (n.340+2303T>G) n.476+1469T>G | gnomAD v3 gnomAD v4 |
| 3 | g.10144490T= | CA1345068668 | VHL | c.*17+1469T= (n.*17+1469T=) c.599+1469T= (n.599+1469T=) c.341-2024T= (n.341-2024T=) c.340+2303T= (n.340+2303T=) n.476+1469T= | |
| 3 | g.10144491C>T | CA1044996342 | VHL | c.*17+1470C>T (n.*17+1470C>T) c.599+1470C>T (n.599+1470C>T) c.341-2023C>T (n.341-2023C>T) c.340+2304C>T (n.340+2304C>T) n.476+1470C>T | gnomAD v3 gnomAD v4 |
| 3 | g.10144492_10144494delinsTTG | CA1345068669 | VHL | c.*17+1471_*17+1473delinsTTG (n.*17+1471_*17+1473delinsTTG) c.599+1471_599+1473delinsTTG (n.599+1471_599+1473delinsTTG) c.341-2022_341-2020delinsTTG (n.341-2022_341-2020delinsTTG) c.340+2305_340+2307delinsTTG (n.340+2305_340+2307delinsTTG) n.476+1471_476+1473delinsTTG | |
| 3 | g.10144493T= | CA1345068670 | VHL | c.*17+1472T= (n.*17+1472T=) c.599+1472T= (n.599+1472T=) c.341-2021T= (n.341-2021T=) c.340+2306T= (n.340+2306T=) n.476+1472T= | |
| 3 | g.10144494_10144495del | CA540876171 | VHL | c.*17+1473_*17+1474del (n.*17+1473_*17+1474del) c.599+1473_599+1474del (n.599+1473_599+1474del) c.341-2020_341-2019del (n.341-2020_341-2019del) c.340+2307_340+2308del (n.340+2307_340+2308del) n.476+1473_476+1474del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144494G>A | CA1345068672 | VHL | c.*17+1473G>A (n.*17+1473G>A) c.599+1473G>A (n.599+1473G>A) c.341-2020G>A (n.341-2020G>A) c.340+2307G>A (n.340+2307G>A) n.476+1473G>A | dbSNP |
| 3 | g.10144494G= | CA1345068671 | VHL | c.*17+1473G= (n.*17+1473G=) c.599+1473G= (n.599+1473G=) c.341-2020G= (n.341-2020G=) c.340+2307G= (n.340+2307G=) n.476+1473G= | |
| 3 | g.10144494G>T | CA1044996348 | VHL | c.*17+1473G>T (n.*17+1473G>T) c.599+1473G>T (n.599+1473G>T) c.341-2020G>T (n.341-2020G>T) c.340+2307G>T (n.340+2307G>T) n.476+1473G>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144494dup | CA1044996349 | VHL | c.*17+1473dup (n.*17+1473dup) c.599+1473dup (n.599+1473dup) c.341-2020dup (n.341-2020dup) c.340+2307dup (n.340+2307dup) n.476+1473dup | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144495T>C | CA1044996360 | VHL | c.*17+1474T>C (n.*17+1474T>C) c.599+1474T>C (n.599+1474T>C) c.341-2019T>C (n.341-2019T>C) c.340+2308T>C (n.340+2308T>C) n.476+1474T>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144495T>G | CA1345068673 | VHL | c.*17+1474T>G (n.*17+1474T>G) c.599+1474T>G (n.599+1474T>G) c.341-2019T>G (n.341-2019T>G) c.340+2308T>G (n.340+2308T>G) n.476+1474T>G | dbSNP |
| 3 | g.10144495T= | CA1345068674 | VHL | c.*17+1474T= (n.*17+1474T=) c.599+1474T= (n.599+1474T=) c.341-2019T= (n.341-2019T=) c.340+2308T= (n.340+2308T=) n.476+1474T= | |
| 3 | g.10144495_10144496insTT | CA1044996353 | VHL | c.*17+1474_*17+1475insTT (n.*17+1474_*17+1475insTT) c.599+1474_599+1475insTT (n.599+1474_599+1475insTT) c.341-2019_341-2018insTT (n.341-2019_341-2018insTT) c.340+2308_340+2309insTT (n.340+2308_340+2309insTT) n.476+1474_476+1475insTT | gnomAD v3 gnomAD v4 |
| 3 | g.10144495_10144496insTTTTT | CA1044996356 | VHL | c.*17+1474_*17+1475insTTTTT (n.*17+1474_*17+1475insTTTTT) c.599+1474_599+1475insTTTTT (n.599+1474_599+1475insTTTTT) c.341-2019_341-2018insTTTTT (n.341-2019_341-2018insTTTTT) c.340+2308_340+2309insTTTTT (n.340+2308_340+2309insTTTTT) n.476+1474_476+1475insTTTTT | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144495_10144496insTTTTTT | CA1044996357 | VHL | c.*17+1474_*17+1475insTTTTTT (n.*17+1474_*17+1475insTTTTTT) c.599+1474_599+1475insTTTTTT (n.599+1474_599+1475insTTTTTT) c.341-2019_341-2018insTTTTTT (n.341-2019_341-2018insTTTTTT) c.340+2308_340+2309insTTTTTT (n.340+2308_340+2309insTTTTTT) n.476+1474_476+1475insTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144495_10144496insTTTTTTT | CA1044996358 | VHL | c.*17+1474_*17+1475insTTTTTTT (n.*17+1474_*17+1475insTTTTTTT) c.599+1474_599+1475insTTTTTTT (n.599+1474_599+1475insTTTTTTT) c.341-2019_341-2018insTTTTTTT (n.341-2019_341-2018insTTTTTTT) c.340+2308_340+2309insTTTTTTT (n.340+2308_340+2309insTTTTTTT) n.476+1474_476+1475insTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144495dup | CA1044996352 | VHL | c.*17+1474dup (n.*17+1474dup) c.599+1474dup (n.599+1474dup) c.341-2019dup (n.341-2019dup) c.340+2308dup (n.340+2308dup) n.476+1474dup | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144496C= | CA1345068676 | VHL | c.*17+1475C= (n.*17+1475C=) c.599+1475C= (n.599+1475C=) c.341-2018C= (n.341-2018C=) c.340+2309C= (n.340+2309C=) n.476+1475C= | |
| 3 | g.10144496C>T | CA70047865 | VHL | c.*17+1475C>T (n.*17+1475C>T) c.599+1475C>T (n.599+1475C>T) c.341-2018C>T (n.341-2018C>T) c.340+2309C>T (n.340+2309C>T) n.476+1475C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144496_10144506delinsCTTTTTTTTTT | CA1345068675 | VHL | c.*17+1475_*17+1485delinsCTTTTTTTTTT (n.*17+1475_*17+1485delinsCTTTTTTTTTT) c.599+1475_599+1485delinsCTTTTTTTTTT (n.599+1475_599+1485delinsCTTTTTTTTTT) c.341-2018_341-2008delinsCTTTTTTTTTT (n.341-2018_341-2008delinsCTTTTTTTTTT) c.340+2309_340+2319delinsCTTTTTTTTTT (n.340+2309_340+2319delinsCTTTTTTTTTT) n.476+1475_476+1485delinsCTTTTTTTTTT | |
| 3 | g.10144497T>C | CA1345068678 | VHL | c.*17+1476T>C (n.*17+1476T>C) c.599+1476T>C (n.599+1476T>C) c.341-2017T>C (n.341-2017T>C) c.340+2310T>C (n.340+2310T>C) n.476+1476T>C | dbSNP |
| 3 | g.10144497T= | CA1345068677 | VHL | c.*17+1476T= (n.*17+1476T=) c.599+1476T= (n.599+1476T=) c.341-2017T= (n.341-2017T=) c.340+2310T= (n.340+2310T=) n.476+1476T= | |
| 3 | g.10144514_10144515insTTTTTTTTTTTTTTTTTTT | CA1044996407 | VHL | c.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTT (n.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTT) c.599+1493_599+1494insTTTTTTTTTTTTTTTTTTT (n.599+1493_599+1494insTTTTTTTTTTTTTTTTTTT) c.341-2000_341-1999insTTTTTTTTTTTTTTTTTTT (n.341-2000_341-1999insTTTTTTTTTTTTTTTTTTT) c.340+2327_340+2328insTTTTTTTTTTTTTTTTTTT (n.340+2327_340+2328insTTTTTTTTTTTTTTTTTTT) n.476+1493_476+1494insTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2592312619 | VHL | c.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.476+1493_476+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1044996410 | VHL | c.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.476+1493_476+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1044996412 | VHL | c.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.476+1493_476+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1044996413 | VHL | c.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.476+1493_476+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1044996414 | VHL | c.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.476+1493_476+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1044996415 | VHL | c.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.476+1493_476+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2592312618 | VHL | c.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.476+1493_476+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1044996416 | VHL | c.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.476+1493_476+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| 3 | g.10144514_10144515insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2592312617 | VHL | c.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.476+1493_476+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
| 3 | g.10144514dup | CA70047870 | VHL | c.*17+1493dup (n.*17+1493dup) c.599+1493dup (n.599+1493dup) c.341-2000dup (n.341-2000dup) c.340+2327dup (n.340+2327dup) n.476+1493dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144513_10144514dup | CA70047871 | VHL | c.*17+1492_*17+1493dup (n.*17+1492_*17+1493dup) c.599+1492_599+1493dup (n.599+1492_599+1493dup) c.341-2001_341-2000dup (n.341-2001_341-2000dup) c.340+2326_340+2327dup (n.340+2326_340+2327dup) n.476+1492_476+1493dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144512_10144514dup | CA896161492 | VHL | c.*17+1491_*17+1493dup (n.*17+1491_*17+1493dup) c.599+1491_599+1493dup (n.599+1491_599+1493dup) c.341-2002_341-2000dup (n.341-2002_341-2000dup) c.340+2325_340+2327dup (n.340+2325_340+2327dup) n.476+1491_476+1493dup | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144511_10144514dup | CA70047872 | VHL | c.*17+1490_*17+1493dup (n.*17+1490_*17+1493dup) c.599+1490_599+1493dup (n.599+1490_599+1493dup) c.341-2003_341-2000dup (n.341-2003_341-2000dup) c.340+2324_340+2327dup (n.340+2324_340+2327dup) n.476+1490_476+1493dup | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144510_10144514dup | CA540876178 | VHL | c.*17+1489_*17+1493dup (n.*17+1489_*17+1493dup) c.599+1489_599+1493dup (n.599+1489_599+1493dup) c.341-2004_341-2000dup (n.341-2004_341-2000dup) c.340+2323_340+2327dup (n.340+2323_340+2327dup) n.476+1489_476+1493dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144509_10144514dup | CA540876176 | VHL | c.*17+1488_*17+1493dup (n.*17+1488_*17+1493dup) c.599+1488_599+1493dup (n.599+1488_599+1493dup) c.341-2005_341-2000dup (n.341-2005_341-2000dup) c.340+2322_340+2327dup (n.340+2322_340+2327dup) n.476+1488_476+1493dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144508_10144514dup | CA540876175 | VHL | c.*17+1487_*17+1493dup (n.*17+1487_*17+1493dup) c.599+1487_599+1493dup (n.599+1487_599+1493dup) c.341-2006_341-2000dup (n.341-2006_341-2000dup) c.340+2321_340+2327dup (n.340+2321_340+2327dup) n.476+1487_476+1493dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144507_10144514dup | CA540876173 | VHL | c.*17+1486_*17+1493dup (n.*17+1486_*17+1493dup) c.599+1486_599+1493dup (n.599+1486_599+1493dup) c.341-2007_341-2000dup (n.341-2007_341-2000dup) c.340+2320_340+2327dup (n.340+2320_340+2327dup) n.476+1486_476+1493dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144506_10144514dup | CA1044996445 | VHL | c.*17+1485_*17+1493dup (n.*17+1485_*17+1493dup) c.599+1485_599+1493dup (n.599+1485_599+1493dup) c.341-2008_341-2000dup (n.341-2008_341-2000dup) c.340+2319_340+2327dup (n.340+2319_340+2327dup) n.476+1485_476+1493dup | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144505_10144514dup | CA916832670 | VHL | c.*17+1484_*17+1493dup (n.*17+1484_*17+1493dup) c.599+1484_599+1493dup (n.599+1484_599+1493dup) c.341-2009_341-2000dup (n.341-2009_341-2000dup) c.340+2318_340+2327dup (n.340+2318_340+2327dup) n.476+1484_476+1493dup | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144504_10144514dup | CA1044996461 | VHL | c.*17+1483_*17+1493dup (n.*17+1483_*17+1493dup) c.599+1483_599+1493dup (n.599+1483_599+1493dup) c.341-2010_341-2000dup (n.341-2010_341-2000dup) c.340+2317_340+2327dup (n.340+2317_340+2327dup) n.476+1483_476+1493dup | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144503_10144514dup | CA1044996459 | VHL | c.*17+1482_*17+1493dup (n.*17+1482_*17+1493dup) c.599+1482_599+1493dup (n.599+1482_599+1493dup) c.341-2011_341-2000dup (n.341-2011_341-2000dup) c.340+2316_340+2327dup (n.340+2316_340+2327dup) n.476+1482_476+1493dup | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144502_10144514dup | CA1044996455 | VHL | c.*17+1481_*17+1493dup (n.*17+1481_*17+1493dup) c.599+1481_599+1493dup (n.599+1481_599+1493dup) c.341-2012_341-2000dup (n.341-2012_341-2000dup) c.340+2315_340+2327dup (n.340+2315_340+2327dup) n.476+1481_476+1493dup | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144501_10144514dup | CA1044996450 | VHL | c.*17+1480_*17+1493dup (n.*17+1480_*17+1493dup) c.599+1480_599+1493dup (n.599+1480_599+1493dup) c.341-2013_341-2000dup (n.341-2013_341-2000dup) c.340+2314_340+2327dup (n.340+2314_340+2327dup) n.476+1480_476+1493dup | gnomAD v3 gnomAD v4 |
| 3 | g.10144500_10144514dup | CA1044996431 | VHL | c.*17+1479_*17+1493dup (n.*17+1479_*17+1493dup) c.599+1479_599+1493dup (n.599+1479_599+1493dup) c.341-2014_341-2000dup (n.341-2014_341-2000dup) c.340+2313_340+2327dup (n.340+2313_340+2327dup) n.476+1479_476+1493dup | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144499_10144514dup | CA1044996399 | VHL | c.*17+1478_*17+1493dup (n.*17+1478_*17+1493dup) c.599+1478_599+1493dup (n.599+1478_599+1493dup) c.341-2015_341-2000dup (n.341-2015_341-2000dup) c.340+2312_340+2327dup (n.340+2312_340+2327dup) n.476+1478_476+1493dup | gnomAD v3 gnomAD v4 |
| 3 | g.10144498_10144514dup | CA1044996402 | VHL | c.*17+1477_*17+1493dup (n.*17+1477_*17+1493dup) c.599+1477_599+1493dup (n.599+1477_599+1493dup) c.341-2016_341-2000dup (n.341-2016_341-2000dup) c.340+2311_340+2327dup (n.340+2311_340+2327dup) n.476+1477_476+1493dup | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144514del | CA896161472 | VHL | c.*17+1493del (n.*17+1493del) c.599+1493del (n.599+1493del) c.341-2000del (n.341-2000del) c.340+2327del (n.340+2327del) n.476+1493del | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144513_10144514del | CA896161487 | VHL | c.*17+1492_*17+1493del (n.*17+1492_*17+1493del) c.599+1492_599+1493del (n.599+1492_599+1493del) c.341-2001_341-2000del (n.341-2001_341-2000del) c.340+2326_340+2327del (n.340+2326_340+2327del) n.476+1492_476+1493del | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144512_10144514del | CA896161484 | VHL | c.*17+1491_*17+1493del (n.*17+1491_*17+1493del) c.599+1491_599+1493del (n.599+1491_599+1493del) c.341-2002_341-2000del (n.341-2002_341-2000del) c.340+2325_340+2327del (n.340+2325_340+2327del) n.476+1491_476+1493del | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144511_10144514del | CA1044996423 | VHL | c.*17+1490_*17+1493del (n.*17+1490_*17+1493del) c.599+1490_599+1493del (n.599+1490_599+1493del) c.341-2003_341-2000del (n.341-2003_341-2000del) c.340+2324_340+2327del (n.340+2324_340+2327del) n.476+1490_476+1493del | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144510_10144514del | CA896161480 | VHL | c.*17+1489_*17+1493del (n.*17+1489_*17+1493del) c.599+1489_599+1493del (n.599+1489_599+1493del) c.341-2004_341-2000del (n.341-2004_341-2000del) c.340+2323_340+2327del (n.340+2323_340+2327del) n.476+1489_476+1493del | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144509_10144514del | CA1345068681 | VHL | c.*17+1488_*17+1493del (n.*17+1488_*17+1493del) c.599+1488_599+1493del (n.599+1488_599+1493del) c.341-2005_341-2000del (n.341-2005_341-2000del) c.340+2322_340+2327del (n.340+2322_340+2327del) n.476+1488_476+1493del | dbSNP |
| 3 | g.10144508_10144514del | CA1044996427 | VHL | c.*17+1487_*17+1493del (n.*17+1487_*17+1493del) c.599+1487_599+1493del (n.599+1487_599+1493del) c.341-2006_341-2000del (n.341-2006_341-2000del) c.340+2321_340+2327del (n.340+2321_340+2327del) n.476+1487_476+1493del | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144507_10144514del | CA1345068679 | VHL | c.*17+1486_*17+1493del (n.*17+1486_*17+1493del) c.599+1486_599+1493del (n.599+1486_599+1493del) c.341-2007_341-2000del (n.341-2007_341-2000del) c.340+2320_340+2327del (n.340+2320_340+2327del) n.476+1486_476+1493del | dbSNP |
| 3 | g.10144506_10144514del | CA896161475 | VHL | c.*17+1485_*17+1493del (n.*17+1485_*17+1493del) c.599+1485_599+1493del (n.599+1485_599+1493del) c.341-2008_341-2000del (n.341-2008_341-2000del) c.340+2319_340+2327del (n.340+2319_340+2327del) n.476+1485_476+1493del | dbSNP |
| 3 | g.10144505_10144514del | CA1345068680 | VHL | c.*17+1484_*17+1493del (n.*17+1484_*17+1493del) c.599+1484_599+1493del (n.599+1484_599+1493del) c.341-2009_341-2000del (n.341-2009_341-2000del) c.340+2318_340+2327del (n.340+2318_340+2327del) n.476+1484_476+1493del | dbSNP |
| 3 | g.10144497_10144498insG | CA2509355054 | VHL | c.*17+1476_*17+1477insG (n.*17+1476_*17+1477insG) c.599+1476_599+1477insG (n.599+1476_599+1477insG) c.341-2017_341-2016insG (n.341-2017_341-2016insG) c.340+2310_340+2311insG (n.340+2310_340+2311insG) n.476+1476_476+1477insG | |
| 3 | g.10144498T>G | CA540876179 | VHL | c.*17+1477T>G (n.*17+1477T>G) c.599+1477T>G (n.599+1477T>G) c.341-2016T>G (n.341-2016T>G) c.340+2311T>G (n.340+2311T>G) n.476+1477T>G | gnomAD v2 |
| 3 | g.10144498T= | CA1345068682 | VHL | c.*17+1477T= (n.*17+1477T=) c.599+1477T= (n.599+1477T=) c.341-2016T= (n.341-2016T=) c.340+2311T= (n.340+2311T=) n.476+1477T= | |
| 3 | g.10144498_10144499insC | CA896161500 | VHL | c.*17+1477_*17+1478insC (n.*17+1477_*17+1478insC) c.599+1477_599+1478insC (n.599+1477_599+1478insC) c.341-2016_341-2015insC (n.341-2016_341-2015insC) c.340+2311_340+2312insC (n.340+2311_340+2312insC) n.476+1477_476+1478insC | dbSNP |
| 3 | g.10144500_10144501insC | CA540876181 | VHL | c.*17+1479_*17+1480insC (n.*17+1479_*17+1480insC) c.599+1479_599+1480insC (n.599+1479_599+1480insC) c.341-2014_341-2013insC (n.341-2014_341-2013insC) c.340+2313_340+2314insC (n.340+2313_340+2314insC) n.476+1479_476+1480insC | gnomAD v2 |
| 3 | g.10144506_10144507insA | CA2500572443 | VHL | c.*17+1485_*17+1486insA (n.*17+1485_*17+1486insA) c.599+1485_599+1486insA (n.599+1485_599+1486insA) c.341-2008_341-2007insA (n.341-2008_341-2007insA) c.340+2319_340+2320insA (n.340+2319_340+2320insA) n.476+1485_476+1486insA | |
| 3 | g.10144507T= | CA1345068683 | VHL | c.*17+1486T= (n.*17+1486T=) c.599+1486T= (n.599+1486T=) c.341-2007T= (n.341-2007T=) c.340+2320T= (n.340+2320T=) n.476+1486T= | |
| 3 | g.10144507_10144508insA | CA896161508 | VHL | c.*17+1486_*17+1487insA (n.*17+1486_*17+1487insA) c.599+1486_599+1487insA (n.599+1486_599+1487insA) c.341-2007_341-2006insA (n.341-2007_341-2006insA) c.340+2320_340+2321insA (n.340+2320_340+2321insA) n.476+1486_476+1487insA | dbSNP |
| 3 | g.10144507_10144508insC | CA2551936637 | VHL | c.*17+1486_*17+1487insC (n.*17+1486_*17+1487insC) c.599+1486_599+1487insC (n.599+1486_599+1487insC) c.341-2007_341-2006insC (n.341-2007_341-2006insC) c.340+2320_340+2321insC (n.340+2320_340+2321insC) n.476+1486_476+1487insC | |
| 3 | g.10144508T>A | CA70047877 | VHL | c.*17+1487T>A (n.*17+1487T>A) c.599+1487T>A (n.599+1487T>A) c.341-2006T>A (n.341-2006T>A) c.340+2321T>A (n.340+2321T>A) n.476+1487T>A | dbSNP |
| 3 | g.10144508T>G | CA1044996475 | VHL | c.*17+1487T>G (n.*17+1487T>G) c.599+1487T>G (n.599+1487T>G) c.341-2006T>G (n.341-2006T>G) c.340+2321T>G (n.340+2321T>G) n.476+1487T>G | gnomAD v3 gnomAD v4 |
| 3 | g.10144508T= | CA1345068684 | VHL | c.*17+1487T= (n.*17+1487T=) c.599+1487T= (n.599+1487T=) c.341-2006T= (n.341-2006T=) c.340+2321T= (n.340+2321T=) n.476+1487T= | |
| 3 | g.10144514_10144515insTTTTCTTT | CA1044996477 | VHL | c.*17+1493_*17+1494insTTTTCTTT (n.*17+1493_*17+1494insTTTTCTTT) c.599+1493_599+1494insTTTTCTTT (n.599+1493_599+1494insTTTTCTTT) c.341-2000_341-1999insTTTTCTTT (n.341-2000_341-1999insTTTTCTTT) c.340+2327_340+2328insTTTTCTTT (n.340+2327_340+2328insTTTTCTTT) n.476+1493_476+1494insTTTTCTTT | |
| 3 | g.10144513T= | CA1345068685 | VHL | c.*17+1492T= (n.*17+1492T=) c.599+1492T= (n.599+1492T=) c.341-2001T= (n.341-2001T=) c.340+2326T= (n.340+2326T=) n.476+1492T= | |
| 3 | g.10144514T>A | CA2538246972 | VHL | c.*17+1493T>A (n.*17+1493T>A) c.599+1493T>A (n.599+1493T>A) c.341-2000T>A (n.341-2000T>A) c.340+2327T>A (n.340+2327T>A) n.476+1493T>A | |
| 3 | g.10144514T>G | CA1345068687 | VHL | c.*17+1493T>G (n.*17+1493T>G) c.599+1493T>G (n.599+1493T>G) c.341-2000T>G (n.341-2000T>G) c.340+2327T>G (n.340+2327T>G) n.476+1493T>G | dbSNP |
| 3 | g.10144514T= | CA1345068686 | VHL | c.*17+1493T= (n.*17+1493T=) c.599+1493T= (n.599+1493T=) c.341-2000T= (n.341-2000T=) c.340+2327T= (n.340+2327T=) n.476+1493T= | |
| 3 | g.10144514_10144515insTTTAT | CA540876182 | VHL | c.*17+1493_*17+1494insTTTAT (n.*17+1493_*17+1494insTTTAT) c.599+1493_599+1494insTTTAT (n.599+1493_599+1494insTTTAT) c.341-2000_341-1999insTTTAT (n.341-2000_341-1999insTTTAT) c.340+2327_340+2328insTTTAT (n.340+2327_340+2328insTTTAT) n.476+1493_476+1494insTTTAT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTCT | CA1044996479 | VHL | c.*17+1493_*17+1494insTTTTCT (n.*17+1493_*17+1494insTTTTCT) c.599+1493_599+1494insTTTTCT (n.599+1493_599+1494insTTTTCT) c.341-2000_341-1999insTTTTCT (n.341-2000_341-1999insTTTTCT) c.340+2327_340+2328insTTTTCT (n.340+2327_340+2328insTTTTCT) n.476+1493_476+1494insTTTTCT | gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTA | CA540876184 | VHL | c.*17+1493_*17+1494insTTA (n.*17+1493_*17+1494insTTA) c.599+1493_599+1494insTTA (n.599+1493_599+1494insTTA) c.341-2000_341-1999insTTA (n.341-2000_341-1999insTTA) c.340+2327_340+2328insTTA (n.340+2327_340+2328insTTA) n.476+1493_476+1494insTTA | gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTTG | CA1044996501 | VHL | c.*17+1493_*17+1494insTTTTTG (n.*17+1493_*17+1494insTTTTTG) c.599+1493_599+1494insTTTTTG (n.599+1493_599+1494insTTTTTG) c.341-2000_341-1999insTTTTTG (n.341-2000_341-1999insTTTTTG) c.340+2327_340+2328insTTTTTG (n.340+2327_340+2328insTTTTTG) n.476+1493_476+1494insTTTTTG | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTTTA | CA1044996500 | VHL | c.*17+1493_*17+1494insTTTTTTA (n.*17+1493_*17+1494insTTTTTTA) c.599+1493_599+1494insTTTTTTA (n.599+1493_599+1494insTTTTTTA) c.341-2000_341-1999insTTTTTTA (n.341-2000_341-1999insTTTTTTA) c.340+2327_340+2328insTTTTTTA (n.340+2327_340+2328insTTTTTTA) n.476+1493_476+1494insTTTTTTA | gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTTTG | CA1044996498 | VHL | c.*17+1493_*17+1494insTTTTTTG (n.*17+1493_*17+1494insTTTTTTG) c.599+1493_599+1494insTTTTTTG (n.599+1493_599+1494insTTTTTTG) c.341-2000_341-1999insTTTTTTG (n.341-2000_341-1999insTTTTTTG) c.340+2327_340+2328insTTTTTTG (n.340+2327_340+2328insTTTTTTG) n.476+1493_476+1494insTTTTTTG | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTTTTA | CA540876187 | VHL | c.*17+1493_*17+1494insTTTTTTTA (n.*17+1493_*17+1494insTTTTTTTA) c.599+1493_599+1494insTTTTTTTA (n.599+1493_599+1494insTTTTTTTA) c.341-2000_341-1999insTTTTTTTA (n.341-2000_341-1999insTTTTTTTA) c.340+2327_340+2328insTTTTTTTA (n.340+2327_340+2328insTTTTTTTA) n.476+1493_476+1494insTTTTTTTA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTTTTG | CA540876188 | VHL | c.*17+1493_*17+1494insTTTTTTTG (n.*17+1493_*17+1494insTTTTTTTG) c.599+1493_599+1494insTTTTTTTG (n.599+1493_599+1494insTTTTTTTG) c.341-2000_341-1999insTTTTTTTG (n.341-2000_341-1999insTTTTTTTG) c.340+2327_340+2328insTTTTTTTG (n.340+2327_340+2328insTTTTTTTG) n.476+1493_476+1494insTTTTTTTG | gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTTTTTA | CA1044996497 | VHL | c.*17+1493_*17+1494insTTTTTTTTA (n.*17+1493_*17+1494insTTTTTTTTA) c.599+1493_599+1494insTTTTTTTTA (n.599+1493_599+1494insTTTTTTTTA) c.341-2000_341-1999insTTTTTTTTA (n.341-2000_341-1999insTTTTTTTTA) c.340+2327_340+2328insTTTTTTTTA (n.340+2327_340+2328insTTTTTTTTA) n.476+1493_476+1494insTTTTTTTTA | gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTTTTTG | CA1044996496 | VHL | c.*17+1493_*17+1494insTTTTTTTTG (n.*17+1493_*17+1494insTTTTTTTTG) c.599+1493_599+1494insTTTTTTTTG (n.599+1493_599+1494insTTTTTTTTG) c.341-2000_341-1999insTTTTTTTTG (n.341-2000_341-1999insTTTTTTTTG) c.340+2327_340+2328insTTTTTTTTG (n.340+2327_340+2328insTTTTTTTTG) n.476+1493_476+1494insTTTTTTTTG | gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTTTTTTA | CA1044996493 | VHL | c.*17+1493_*17+1494insTTTTTTTTTA (n.*17+1493_*17+1494insTTTTTTTTTA) c.599+1493_599+1494insTTTTTTTTTA (n.599+1493_599+1494insTTTTTTTTTA) c.341-2000_341-1999insTTTTTTTTTA (n.341-2000_341-1999insTTTTTTTTTA) c.340+2327_340+2328insTTTTTTTTTA (n.340+2327_340+2328insTTTTTTTTTA) n.476+1493_476+1494insTTTTTTTTTA | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144514_10144515insTTTTTTTAGACAG | CA2565304562 | VHL | c.*17+1493_*17+1494insTTTTTTTAGACAG (n.*17+1493_*17+1494insTTTTTTTAGACAG) c.599+1493_599+1494insTTTTTTTAGACAG (n.599+1493_599+1494insTTTTTTTAGACAG) c.341-2000_341-1999insTTTTTTTAGACAG (n.341-2000_341-1999insTTTTTTTAGACAG) c.340+2327_340+2328insTTTTTTTAGACAG (n.340+2327_340+2328insTTTTTTTAGACAG) n.476+1493_476+1494insTTTTTTTAGACAG | |
| 3 | g.10144515G= | CA1345068688 | VHL | c.*17+1494G= (n.*17+1494G=) c.599+1494G= (n.599+1494G=) c.341-1999G= (n.341-1999G=) c.340+2328G= (n.340+2328G=) n.476+1494G= | |
| 3 | g.10144515G>T | CA70047881 | VHL | c.*17+1494G>T (n.*17+1494G>T) c.599+1494G>T (n.599+1494G>T) c.341-1999G>T (n.341-1999G>T) c.340+2328G>T (n.340+2328G>T) n.476+1494G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10144515dup | CA1044996503 | VHL | c.*17+1494dup (n.*17+1494dup) c.599+1494dup (n.599+1494dup) c.341-1999dup (n.341-1999dup) c.340+2328dup (n.340+2328dup) n.476+1494dup | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10144517_10144518del | CA1044996491 | VHL | c.*17+1496_*17+1497del (n.*17+1496_*17+1497del) c.599+1496_599+1497del (n.599+1496_599+1497del) c.341-1997_341-1996del (n.341-1997_341-1996del) c.340+2330_340+2331del (n.340+2330_340+2331del) n.476+1496_476+1497del | gnomAD v3 gnomAD v4 |