WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90694325A= | CA1562859945 | ADGRV1 | c.7569A= (p.Thr2523=) c.265+18116A= (n.265+18116A=) n.3028A= c.1376A= n.713A= c.4860A= (p.Thr1620=) c.2298A= c.266A= n.7582A= c.7566A= (p.Thr2522=) c.7488A= (p.Thr2496=) c.4872A= (p.Thr1624=) c.7473A= (p.Thr2491=) c.687A= (p.Thr229=) n.7585A= | |
| 5 | g.90694325A>C | CA445468376 | ADGRV1 | c.7569A>C (p.Thr2523=) c.265+18116A>C (n.265+18116A>C) n.3028A>C c.1376A>C n.713A>C c.4860A>C (p.Thr1620=) c.2298A>C c.266A>C n.7582A>C c.7566A>C (p.Thr2522=) c.7488A>C (p.Thr2496=) c.4872A>C (p.Thr1624=) c.7473A>C (p.Thr2491=) c.687A>C (p.Thr229=) n.7585A>C | |
| 5 | g.90694325A>G | CA138216 | ADGRV1 | c.7569A>G (p.Thr2523=) c.265+18116A>G (n.265+18116A>G) n.3028A>G c.1376A>G n.713A>G c.4860A>G (p.Thr1620=) c.2298A>G c.266A>G n.7582A>G c.7566A>G (p.Thr2522=) c.7488A>G (p.Thr2496=) c.4872A>G (p.Thr1624=) c.7473A>G (p.Thr2491=) c.687A>G (p.Thr229=) n.7585A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90694325A>T | CA445468380 | ADGRV1 | c.7569A>T (p.Thr2523=) c.265+18116A>T (n.265+18116A>T) n.3028A>T c.1376A>T n.713A>T c.4860A>T (p.Thr1620=) c.2298A>T c.266A>T n.7582A>T c.7566A>T (p.Thr2522=) c.7488A>T (p.Thr2496=) c.4872A>T (p.Thr1624=) c.7473A>T (p.Thr2491=) c.687A>T (p.Thr229=) n.7585A>T | |
| 5 | g.90694326G>A | CA3340055 | ADGRV1 | c.7570G>A (p.Val2524Met) c.265+18117G>A (n.265+18117G>A) n.3029G>A c.1377G>A n.714G>A c.4861G>A (p.Val1621Met) c.2299G>A c.267G>A n.7583G>A c.7567G>A (p.Val2523Met) c.7489G>A (p.Val2497Met) c.4873G>A (p.Val1625Met) c.7474G>A (p.Val2492Met) c.688G>A (p.Val230Met) n.7586G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.90694326G>C | CA360379474 | ADGRV1 | c.7570G>C (p.Val2524Leu) c.265+18117G>C (n.265+18117G>C) n.3029G>C c.1377G>C n.714G>C c.4861G>C (p.Val1621Leu) c.2299G>C c.267G>C n.7583G>C c.7567G>C (p.Val2523Leu) c.7489G>C (p.Val2497Leu) c.4873G>C (p.Val1625Leu) c.7474G>C (p.Val2492Leu) c.688G>C (p.Val230Leu) n.7586G>C | |
| 5 | g.90694326G= | CA1562859946 | ADGRV1 | c.7570G= (p.Val2524=) c.265+18117G= (n.265+18117G=) n.3029G= c.1377G= n.714G= c.4861G= (p.Val1621=) c.2299G= c.267G= n.7583G= c.7567G= (p.Val2523=) c.7489G= (p.Val2497=) c.4873G= (p.Val1625=) c.7474G= (p.Val2492=) c.688G= (p.Val230=) n.7586G= | |
| 5 | g.90694326G>T | CA3340056 | ADGRV1 | c.7570G>T (p.Val2524Leu) c.265+18117G>T (n.265+18117G>T) n.3029G>T c.1377G>T n.714G>T c.4861G>T (p.Val1621Leu) c.2299G>T c.267G>T n.7583G>T c.7567G>T (p.Val2523Leu) c.7489G>T (p.Val2497Leu) c.4873G>T (p.Val1625Leu) c.7474G>T (p.Val2492Leu) c.688G>T (p.Val230Leu) n.7586G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90694327T>A | CA3340057 | ADGRV1 | c.7571T>A (p.Val2524Glu) c.265+18118T>A (n.265+18118T>A) n.3030T>A c.1378T>A n.715T>A c.4862T>A (p.Val1621Glu) c.2300T>A c.268T>A n.7584T>A c.7568T>A (p.Val2523Glu) c.7490T>A (p.Val2497Glu) c.4874T>A (p.Val1625Glu) c.7475T>A (p.Val2492Glu) c.689T>A (p.Val230Glu) n.7587T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90694327T>C | CA3340058 | ADGRV1 | c.7571T>C (p.Val2524Ala) c.265+18118T>C (n.265+18118T>C) n.3030T>C c.1378T>C n.715T>C c.4862T>C (p.Val1621Ala) c.2300T>C c.268T>C n.7584T>C c.7568T>C (p.Val2523Ala) c.7490T>C (p.Val2497Ala) c.4874T>C (p.Val1625Ala) c.7475T>C (p.Val2492Ala) c.689T>C (p.Val230Ala) n.7587T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90694327T>G | CA122797363 | ADGRV1 | c.7571T>G (p.Val2524Gly) c.265+18118T>G (n.265+18118T>G) n.3030T>G c.1378T>G n.715T>G c.4862T>G (p.Val1621Gly) c.2300T>G c.268T>G n.7584T>G c.7568T>G (p.Val2523Gly) c.7490T>G (p.Val2497Gly) c.4874T>G (p.Val1625Gly) c.7475T>G (p.Val2492Gly) c.689T>G (p.Val230Gly) n.7587T>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90694327T= | CA1562859947 | ADGRV1 | c.7571T= (p.Val2524=) c.265+18118T= (n.265+18118T=) n.3030T= c.1378T= n.715T= c.4862T= (p.Val1621=) c.2300T= c.268T= n.7584T= c.7568T= (p.Val2523=) c.7490T= (p.Val2497=) c.4874T= (p.Val1625=) c.7475T= (p.Val2492=) c.689T= (p.Val230=) n.7587T= | |
| 5 | g.90694328G>A | CA3340059 | ADGRV1 | c.7572G>A (p.Val2524=) c.265+18119G>A (n.265+18119G>A) n.3031G>A c.1379G>A n.716G>A c.4863G>A (p.Val1621=) c.2301G>A c.269G>A n.7585G>A c.7569G>A (p.Val2523=) c.7491G>A (p.Val2497=) c.4875G>A (p.Val1625=) c.7476G>A (p.Val2492=) c.690G>A (p.Val230=) n.7588G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.90694328G>C | CA445468388 | ADGRV1 | c.7572G>C (p.Val2524=) c.265+18119G>C (n.265+18119G>C) n.3031G>C c.1379G>C n.716G>C c.4863G>C (p.Val1621=) c.2301G>C c.269G>C n.7585G>C c.7569G>C (p.Val2523=) c.7491G>C (p.Val2497=) c.4875G>C (p.Val1625=) c.7476G>C (p.Val2492=) c.690G>C (p.Val230=) n.7588G>C | ClinVar |
| 5 | g.90694328G= | CA1562859948 | ADGRV1 | c.7572G= (p.Val2524=) c.265+18119G= (n.265+18119G=) n.3031G= c.1379G= n.716G= c.4863G= (p.Val1621=) c.2301G= c.269G= n.7585G= c.7569G= (p.Val2523=) c.7491G= (p.Val2497=) c.4875G= (p.Val1625=) c.7476G= (p.Val2492=) c.690G= (p.Val230=) n.7588G= | |
| 5 | g.90694328G>T | CA445468391 | ADGRV1 | c.7572G>T (p.Val2524=) c.265+18119G>T (n.265+18119G>T) n.3031G>T c.1379G>T n.716G>T c.4863G>T (p.Val1621=) c.2301G>T c.269G>T n.7585G>T c.7569G>T (p.Val2523=) c.7491G>T (p.Val2497=) c.4875G>T (p.Val1625=) c.7476G>T (p.Val2492=) c.690G>T (p.Val230=) n.7588G>T | |
| 5 | g.90694329T>A | CA360379504 | ADGRV1 | c.7573T>A (p.Ser2525Thr) c.265+18120T>A (n.265+18120T>A) n.3032T>A c.1380T>A n.717T>A c.4864T>A (p.Ser1622Thr) c.2302T>A c.270T>A n.7586T>A c.7570T>A (p.Ser2524Thr) c.7492T>A (p.Ser2498Thr) c.4876T>A (p.Ser1626Thr) c.7477T>A (p.Ser2493Thr) c.691T>A (p.Ser231Thr) n.7589T>A | |
| 5 | g.90694329T>C | CA360379500 | ADGRV1 | c.7573T>C (p.Ser2525Pro) c.265+18120T>C (n.265+18120T>C) n.3032T>C c.1380T>C n.717T>C c.4864T>C (p.Ser1622Pro) c.2302T>C c.270T>C n.7586T>C c.7570T>C (p.Ser2524Pro) c.7492T>C (p.Ser2498Pro) c.4876T>C (p.Ser1626Pro) c.7477T>C (p.Ser2493Pro) c.691T>C (p.Ser231Pro) n.7589T>C | COSMIC |
| 5 | g.90694329T>G | CA360379510 | ADGRV1 | c.7573T>G (p.Ser2525Ala) c.265+18120T>G (n.265+18120T>G) n.3032T>G c.1380T>G n.717T>G c.4864T>G (p.Ser1622Ala) c.2302T>G c.270T>G n.7586T>G c.7570T>G (p.Ser2524Ala) c.7492T>G (p.Ser2498Ala) c.4876T>G (p.Ser1626Ala) c.7477T>G (p.Ser2493Ala) c.691T>G (p.Ser231Ala) n.7589T>G | |
| 5 | g.90694330C>A | CA360379513 | ADGRV1 | c.7574C>A (p.Ser2525Tyr) c.265+18121C>A (n.265+18121C>A) n.3033C>A c.1381C>A n.718C>A c.4865C>A (p.Ser1622Tyr) c.2303C>A c.271C>A n.7587C>A c.7571C>A (p.Ser2524Tyr) c.7493C>A (p.Ser2498Tyr) c.4877C>A (p.Ser1626Tyr) c.7478C>A (p.Ser2493Tyr) c.692C>A (p.Ser231Tyr) n.7590C>A | |
| 5 | g.90694330C= | CA1562859949 | ADGRV1 | c.7574C= (p.Ser2525=) c.265+18121C= (n.265+18121C=) n.3033C= c.1381C= n.718C= c.4865C= (p.Ser1622=) c.2303C= c.271C= n.7587C= c.7571C= (p.Ser2524=) c.7493C= (p.Ser2498=) c.4877C= (p.Ser1626=) c.7478C= (p.Ser2493=) c.692C= (p.Ser231=) n.7590C= | |
| 5 | g.90694330C>G | CA360379515 | ADGRV1 | c.7574C>G (p.Ser2525Cys) c.265+18121C>G (n.265+18121C>G) n.3033C>G c.1381C>G n.718C>G c.4865C>G (p.Ser1622Cys) c.2303C>G c.271C>G n.7587C>G c.7571C>G (p.Ser2524Cys) c.7493C>G (p.Ser2498Cys) c.4877C>G (p.Ser1626Cys) c.7478C>G (p.Ser2493Cys) c.692C>G (p.Ser231Cys) n.7590C>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.90694330C>T | CA360379514 | ADGRV1 | c.7574C>T (p.Ser2525Phe) c.265+18121C>T (n.265+18121C>T) n.3033C>T c.1381C>T n.718C>T c.4865C>T (p.Ser1622Phe) c.2303C>T c.271C>T n.7587C>T c.7571C>T (p.Ser2524Phe) c.7493C>T (p.Ser2498Phe) c.4877C>T (p.Ser1626Phe) c.7478C>T (p.Ser2493Phe) c.692C>T (p.Ser231Phe) n.7590C>T | |
| 5 | g.90694331T>A | CA445468394 | ADGRV1 | c.7575T>A (p.Ser2525=) c.265+18122T>A (n.265+18122T>A) n.3034T>A c.1382T>A n.719T>A c.4866T>A (p.Ser1622=) c.2304T>A c.272T>A n.7588T>A c.7572T>A (p.Ser2524=) c.7494T>A (p.Ser2498=) c.4878T>A (p.Ser1626=) c.7479T>A (p.Ser2493=) c.693T>A (p.Ser231=) n.7591T>A | |
| 5 | g.90694331T>C | CA445468395 | ADGRV1 | c.7575T>C (p.Ser2525=) c.265+18122T>C (n.265+18122T>C) n.3034T>C c.1382T>C n.719T>C c.4866T>C (p.Ser1622=) c.2304T>C c.272T>C n.7588T>C c.7572T>C (p.Ser2524=) c.7494T>C (p.Ser2498=) c.4878T>C (p.Ser1626=) c.7479T>C (p.Ser2493=) c.693T>C (p.Ser231=) n.7591T>C | |
| 5 | g.90694331T>G | CA445468396 | ADGRV1 | c.7575T>G (p.Ser2525=) c.265+18122T>G (n.265+18122T>G) n.3034T>G c.1382T>G n.719T>G c.4866T>G (p.Ser1622=) c.2304T>G c.272T>G n.7588T>G c.7572T>G (p.Ser2524=) c.7494T>G (p.Ser2498=) c.4878T>G (p.Ser1626=) c.7479T>G (p.Ser2493=) c.693T>G (p.Ser231=) n.7591T>G | |
| 5 | g.90694332_90694333del | CA645559072 | ADGRV1 | c.7576_7577del (p.Ile2526SerfsTer3) c.265+18123_265+18124del (n.265+18123_265+18124del) n.3035_3036del c.1383_1384del n.720_721del c.4867_4868del (p.Ile1623SerfsTer3) c.2305_2306del c.273_274del n.7589_7590del c.7573_7574del (p.Ile2525SerfsTer3) c.7495_7496del (p.Ile2499SerfsTer3) c.4879_4880del (p.Ile1627SerfsTer3) c.7480_7481del (p.Ile2494SerfsTer3) c.694_695del (p.Ile232SerfsTer3) n.7592_7593del | COSMIC |
| 5 | g.90694332A= | CA1562859950 | ADGRV1 | c.7576A= (p.Ile2526=) c.265+18123A= (n.265+18123A=) n.3035A= c.1383A= n.720A= c.4867A= (p.Ile1623=) c.2305A= c.273A= n.7589A= c.7573A= (p.Ile2525=) c.7495A= (p.Ile2499=) c.4879A= (p.Ile1627=) c.7480A= (p.Ile2494=) c.694A= (p.Ile232=) n.7592A= | |
| 5 | g.90694332A>C | CA3340060 | ADGRV1 | c.7576A>C (p.Ile2526Leu) c.265+18123A>C (n.265+18123A>C) n.3035A>C c.1383A>C n.720A>C c.4867A>C (p.Ile1623Leu) c.2305A>C c.273A>C n.7589A>C c.7573A>C (p.Ile2525Leu) c.7495A>C (p.Ile2499Leu) c.4879A>C (p.Ile1627Leu) c.7480A>C (p.Ile2494Leu) c.694A>C (p.Ile232Leu) n.7592A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90694332A>G | CA138218 | ADGRV1 | c.7576A>G (p.Ile2526Val) c.265+18123A>G (n.265+18123A>G) n.3035A>G c.1383A>G n.720A>G c.4867A>G (p.Ile1623Val) c.2305A>G c.273A>G n.7589A>G c.7573A>G (p.Ile2525Val) c.7495A>G (p.Ile2499Val) c.4879A>G (p.Ile1627Val) c.7480A>G (p.Ile2494Val) c.694A>G (p.Ile232Val) n.7592A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90694332A>T | CA360379521 | ADGRV1 | c.7576A>T (p.Ile2526Phe) c.265+18123A>T (n.265+18123A>T) n.3035A>T c.1383A>T n.720A>T c.4867A>T (p.Ile1623Phe) c.2305A>T c.273A>T n.7589A>T c.7573A>T (p.Ile2525Phe) c.7495A>T (p.Ile2499Phe) c.4879A>T (p.Ile1627Phe) c.7480A>T (p.Ile2494Phe) c.694A>T (p.Ile232Phe) n.7592A>T | |
| 5 | g.90694333T>A | CA360379526 | ADGRV1 | c.7577T>A (p.Ile2526Asn) c.265+18124T>A (n.265+18124T>A) n.3036T>A c.1384T>A n.721T>A c.4868T>A (p.Ile1623Asn) c.2306T>A c.274T>A n.7590T>A c.7574T>A (p.Ile2525Asn) c.7496T>A (p.Ile2499Asn) c.4880T>A (p.Ile1627Asn) c.7481T>A (p.Ile2494Asn) c.695T>A (p.Ile232Asn) n.7593T>A | |
| 5 | g.90694333T>C | CA360379529 | ADGRV1 | c.7577T>C (p.Ile2526Thr) c.265+18124T>C (n.265+18124T>C) n.3036T>C c.1384T>C n.721T>C c.4868T>C (p.Ile1623Thr) c.2306T>C c.274T>C n.7590T>C c.7574T>C (p.Ile2525Thr) c.7496T>C (p.Ile2499Thr) c.4880T>C (p.Ile1627Thr) c.7481T>C (p.Ile2494Thr) c.695T>C (p.Ile232Thr) n.7593T>C | ClinVar |
| 5 | g.90694333T>G | CA360379530 | ADGRV1 | c.7577T>G (p.Ile2526Ser) c.265+18124T>G (n.265+18124T>G) n.3036T>G c.1384T>G n.721T>G c.4868T>G (p.Ile1623Ser) c.2306T>G c.274T>G n.7590T>G c.7574T>G (p.Ile2525Ser) c.7496T>G (p.Ile2499Ser) c.4880T>G (p.Ile1627Ser) c.7481T>G (p.Ile2494Ser) c.695T>G (p.Ile232Ser) n.7593T>G | |
| 5 | g.90694336_90694338del | CA2674568061 | ADGRV1 | c.7580_7582del (p.Leu2527del) c.265+18127_265+18129del (n.265+18127_265+18129del) n.3039_3041del c.1387_1389del n.724_726del c.4871_4873del (p.Leu1624del) c.2309_2311del c.277_279del n.7593_7595del c.7577_7579del (p.Leu2526del) c.7499_7501del (p.Leu2500del) c.4883_4885del (p.Leu1628del) c.7484_7486del (p.Leu2495del) c.698_700del (p.Leu233del) n.7596_7598del | gnomAD v4 |
| 5 | g.90694334T>A | CA445468414 | ADGRV1 | c.7578T>A (p.Ile2526=) c.265+18125T>A (n.265+18125T>A) n.3037T>A c.1385T>A n.722T>A c.4869T>A (p.Ile1623=) c.2307T>A c.275T>A n.7591T>A c.7575T>A (p.Ile2525=) c.7497T>A (p.Ile2499=) c.4881T>A (p.Ile1627=) c.7482T>A (p.Ile2494=) c.696T>A (p.Ile232=) n.7594T>A | ClinVar |
| 5 | g.90694334T>C | CA445468416 | ADGRV1 | c.7578T>C (p.Ile2526=) c.265+18125T>C (n.265+18125T>C) n.3037T>C c.1385T>C n.722T>C c.4869T>C (p.Ile1623=) c.2307T>C c.275T>C n.7591T>C c.7575T>C (p.Ile2525=) c.7497T>C (p.Ile2499=) c.4881T>C (p.Ile1627=) c.7482T>C (p.Ile2494=) c.696T>C (p.Ile232=) n.7594T>C | gnomAD v4 |
| 5 | g.90694334T>G | CA360379531 | ADGRV1 | c.7578T>G (p.Ile2526Met) c.265+18125T>G (n.265+18125T>G) n.3037T>G c.1385T>G n.722T>G c.4869T>G (p.Ile1623Met) c.2307T>G c.275T>G n.7591T>G c.7575T>G (p.Ile2525Met) c.7497T>G (p.Ile2499Met) c.4881T>G (p.Ile1627Met) c.7482T>G (p.Ile2494Met) c.696T>G (p.Ile232Met) n.7594T>G | |
| 5 | g.90694335C>A | CA360379536 | ADGRV1 | c.7579C>A (p.Leu2527Ile) c.265+18126C>A (n.265+18126C>A) n.3038C>A c.1386C>A n.723C>A c.4870C>A (p.Leu1624Ile) c.2308C>A c.276C>A n.7592C>A c.7576C>A (p.Leu2526Ile) c.7498C>A (p.Leu2500Ile) c.4882C>A (p.Leu1628Ile) c.7483C>A (p.Leu2495Ile) c.697C>A (p.Leu233Ile) n.7595C>A | |
| 5 | g.90694335C>G | CA360379538 | ADGRV1 | c.7579C>G (p.Leu2527Val) c.265+18126C>G (n.265+18126C>G) n.3038C>G c.1386C>G n.723C>G c.4870C>G (p.Leu1624Val) c.2308C>G c.276C>G n.7592C>G c.7576C>G (p.Leu2526Val) c.7498C>G (p.Leu2500Val) c.4882C>G (p.Leu1628Val) c.7483C>G (p.Leu2495Val) c.697C>G (p.Leu233Val) n.7595C>G | |
| 5 | g.90694335C>T | CA360379540 | ADGRV1 | c.7579C>T (p.Leu2527Phe) c.265+18126C>T (n.265+18126C>T) n.3038C>T c.1386C>T n.723C>T c.4870C>T (p.Leu1624Phe) c.2308C>T c.276C>T n.7592C>T c.7576C>T (p.Leu2526Phe) c.7498C>T (p.Leu2500Phe) c.4882C>T (p.Leu1628Phe) c.7483C>T (p.Leu2495Phe) c.697C>T (p.Leu233Phe) n.7595C>T | |
| 5 | g.90694336T>A | CA360379549 | ADGRV1 | c.7580T>A (p.Leu2527His) c.265+18127T>A (n.265+18127T>A) n.3039T>A c.1387T>A n.724T>A c.4871T>A (p.Leu1624His) c.2309T>A c.277T>A n.7593T>A c.7577T>A (p.Leu2526His) c.7499T>A (p.Leu2500His) c.4883T>A (p.Leu1628His) c.7484T>A (p.Leu2495His) c.698T>A (p.Leu233His) n.7596T>A | |
| 5 | g.90694336T>C | CA360379558 | ADGRV1 | c.7580T>C (p.Leu2527Pro) c.265+18127T>C (n.265+18127T>C) n.3039T>C c.1387T>C n.724T>C c.4871T>C (p.Leu1624Pro) c.2309T>C c.277T>C n.7593T>C c.7577T>C (p.Leu2526Pro) c.7499T>C (p.Leu2500Pro) c.4883T>C (p.Leu1628Pro) c.7484T>C (p.Leu2495Pro) c.698T>C (p.Leu233Pro) n.7596T>C | |
| 5 | g.90694336T>G | CA360379564 | ADGRV1 | c.7580T>G (p.Leu2527Arg) c.265+18127T>G (n.265+18127T>G) n.3039T>G c.1387T>G n.724T>G c.4871T>G (p.Leu1624Arg) c.2309T>G c.277T>G n.7593T>G c.7577T>G (p.Leu2526Arg) c.7499T>G (p.Leu2500Arg) c.4883T>G (p.Leu1628Arg) c.7484T>G (p.Leu2495Arg) c.698T>G (p.Leu233Arg) n.7596T>G | |
| 5 | g.90694337T>A | CA445468419 | ADGRV1 | c.7581T>A (p.Leu2527=) c.265+18128T>A (n.265+18128T>A) n.3040T>A c.1388T>A n.725T>A c.4872T>A (p.Leu1624=) c.2310T>A c.278T>A n.7594T>A c.7578T>A (p.Leu2526=) c.7500T>A (p.Leu2500=) c.4884T>A (p.Leu1628=) c.7485T>A (p.Leu2495=) c.699T>A (p.Leu233=) n.7597T>A | |
| 5 | g.90694337T>C | CA445468421 | ADGRV1 | c.7581T>C (p.Leu2527=) c.265+18128T>C (n.265+18128T>C) n.3040T>C c.1388T>C n.725T>C c.4872T>C (p.Leu1624=) c.2310T>C c.278T>C n.7594T>C c.7578T>C (p.Leu2526=) c.7500T>C (p.Leu2500=) c.4884T>C (p.Leu1628=) c.7485T>C (p.Leu2495=) c.699T>C (p.Leu233=) n.7597T>C | |
| 5 | g.90694337T>G | CA445468422 | ADGRV1 | c.7581T>G (p.Leu2527=) c.265+18128T>G (n.265+18128T>G) n.3040T>G c.1388T>G n.725T>G c.4872T>G (p.Leu1624=) c.2310T>G c.278T>G n.7594T>G c.7578T>G (p.Leu2526=) c.7500T>G (p.Leu2500=) c.4884T>G (p.Leu1628=) c.7485T>G (p.Leu2495=) c.699T>G (p.Leu233=) n.7597T>G | |
| 5 | g.90694338C>A | CA360379567 | ADGRV1 | c.7582C>A (p.Pro2528Thr) c.265+18129C>A (n.265+18129C>A) n.3041C>A c.1389C>A n.726C>A c.4873C>A (p.Pro1625Thr) c.2311C>A c.279C>A n.7595C>A c.7579C>A (p.Pro2527Thr) c.7501C>A (p.Pro2501Thr) c.4885C>A (p.Pro1629Thr) c.7486C>A (p.Pro2496Thr) c.700C>A (p.Pro234Thr) n.7598C>A | |
| 5 | g.90694338C= | CA1562859951 | ADGRV1 | c.7582C= (p.Pro2528=) c.265+18129C= (n.265+18129C=) n.3041C= c.1389C= n.726C= c.4873C= (p.Pro1625=) c.2311C= c.279C= n.7595C= c.7579C= (p.Pro2527=) c.7501C= (p.Pro2501=) c.4885C= (p.Pro1629=) c.7486C= (p.Pro2496=) c.700C= (p.Pro234=) n.7598C= | |
| 5 | g.90694338C>G | CA360379568 | ADGRV1 | c.7582C>G (p.Pro2528Ala) c.265+18129C>G (n.265+18129C>G) n.3041C>G c.1389C>G n.726C>G c.4873C>G (p.Pro1625Ala) c.2311C>G c.279C>G n.7595C>G c.7579C>G (p.Pro2527Ala) c.7501C>G (p.Pro2501Ala) c.4885C>G (p.Pro1629Ala) c.7486C>G (p.Pro2496Ala) c.700C>G (p.Pro234Ala) n.7598C>G |