Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.110174640C>A | CA388664529 | COL4A1 | c.3308G>T (p.Gly1103Val) c.3116G>T (p.Gly1039Val) | |
13 | g.110174640C= | CA2118737793 | COL4A1 | c.3308G= (p.Gly1103=) c.3116G= (p.Gly1039=) | |
13 | g.110174640C>G | CA388664531 | COL4A1 | c.3308G>C (p.Gly1103Ala) c.3116G>C (p.Gly1039Ala) | |
13 | g.110174640C>T | CA388664530 | COL4A1 | c.3308G>A (p.Gly1103Glu) c.3116G>A (p.Gly1039Glu) | ClinVar dbSNP |
13 | g.110174641C>A | CA388664532 | COL4A1 | c.3307G>T (p.Gly1103Trp) c.3115G>T (p.Gly1039Trp) | |
13 | g.110174641C= | CA2118737800 | COL4A1 | c.3307G= (p.Gly1103=) c.3115G= (p.Gly1039=) | |
13 | g.110174641C>G | CA388664533 | COL4A1 | c.3307G>C (p.Gly1103Arg) c.3115G>C (p.Gly1039Arg) | |
13 | g.110174641C>T | CA388664534 | COL4A1 | c.3307G>A (p.Gly1103Arg) c.3115G>A (p.Gly1039Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.110174642G>A | CA7047320 | COL4A1 | c.3306C>T (p.Pro1102=) c.3114C>T (p.Pro1038=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110174642G>C | CA7047321 | COL4A1 | c.3306C>G (p.Pro1102=) c.3114C>G (p.Pro1038=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110174642G= | CA2118737807 | COL4A1 | c.3306C= (p.Pro1102=) c.3114C= (p.Pro1038=) | |
13 | g.110174642G>T | CA484789353 | COL4A1 | c.3306C>A (p.Pro1102=) c.3114C>A (p.Pro1038=) | dbSNP |
13 | g.110174643G>A | CA388664535 | COL4A1 | c.3305C>T (p.Pro1102Leu) c.3113C>T (p.Pro1038Leu) | |
13 | g.110174643G>C | CA388664536 | COL4A1 | c.3305C>G (p.Pro1102Arg) c.3113C>G (p.Pro1038Arg) | gnomAD v4 |
13 | g.110174643G>T | CA388664537 | COL4A1 | c.3305C>A (p.Pro1102His) c.3113C>A (p.Pro1038His) | |
13 | g.110174644G>A | CA256253831 | COL4A1 | c.3304C>T (p.Pro1102Ser) c.3112C>T (p.Pro1038Ser) | dbSNP COSMIC COSMIC |
13 | g.110174644G>C | CA388664538 | COL4A1 | c.3304C>G (p.Pro1102Ala) c.3112C>G (p.Pro1038Ala) | |
13 | g.110174644G= | CA2118737813 | COL4A1 | c.3304C= (p.Pro1102=) c.3112C= (p.Pro1038=) | |
13 | g.110174644G>T | CA388664539 | COL4A1 | c.3304C>A (p.Pro1102Thr) c.3112C>A (p.Pro1038Thr) | |
13 | g.110174645A>C | CA484789354 | COL4A1 | c.3303T>G (p.Ser1101=) c.3111T>G (p.Ser1037=) | |
13 | g.110174645A>G | CA484789356 | COL4A1 | c.3303T>C (p.Ser1101=) c.3111T>C (p.Ser1037=) | |
13 | g.110174645A>T | CA484789355 | COL4A1 | c.3303T>A (p.Ser1101=) c.3111T>A (p.Ser1037=) | gnomAD v4 |
13 | g.110174646G>A | CA388664542 | COL4A1 | c.3302C>T (p.Ser1101Phe) c.3110C>T (p.Ser1037Phe) | gnomAD v4 |
13 | g.110174646G>C | CA388664540 | COL4A1 | c.3302C>G (p.Ser1101Cys) c.3110C>G (p.Ser1037Cys) | |
13 | g.110174646G>T | CA388664541 | COL4A1 | c.3302C>A (p.Ser1101Tyr) c.3110C>A (p.Ser1037Tyr) | |
13 | g.110174647A>C | CA388664543 | COL4A1 | c.3301T>G (p.Ser1101Ala) c.3109T>G (p.Ser1037Ala) | |
13 | g.110174647A>G | CA388664544 | COL4A1 | c.3301T>C (p.Ser1101Pro) c.3109T>C (p.Ser1037Pro) | |
13 | g.110174647A>T | CA388664545 | COL4A1 | c.3301T>A (p.Ser1101Thr) c.3109T>A (p.Ser1037Thr) | |
13 | g.110174648C>A | CA484789357 | COL4A1 | c.3300G>T (p.Gly1100=) c.3108G>T (p.Gly1036=) | gnomAD v4 |
13 | g.110174648C>G | CA484789358 | COL4A1 | c.3300G>C (p.Gly1100=) c.3108G>C (p.Gly1036=) | |
13 | g.110174648C>T | CA484789359 | COL4A1 | c.3300G>A (p.Gly1100=) c.3108G>A (p.Gly1036=) | |
13 | g.110174650dup | CA2623673491 | COL4A1 | c.3300dup (p.Ser1101ValfsTer19) c.3108dup (p.Ser1037ValfsTer19) | gnomAD v4 |
13 | g.110174650del | CA2697551932 | COL4A1 | c.3300del (p.Ser1101LeufsTer?) c.3108del (p.Ser1037LeufsTer?) | ClinVar |
13 | g.110174649C>A | CA388664546 | COL4A1 | c.3299G>T (p.Gly1100Val) c.3107G>T (p.Gly1036Val) | |
13 | g.110174649C>G | CA388664547 | COL4A1 | c.3299G>C (p.Gly1100Ala) c.3107G>C (p.Gly1036Ala) | |
13 | g.110174649C>T | CA388664548 | COL4A1 | c.3299G>A (p.Gly1100Glu) c.3107G>A (p.Gly1036Glu) | |
13 | g.110174650C>A | CA388664549 | COL4A1 | c.3298G>T (p.Gly1100Trp) c.3106G>T (p.Gly1036Trp) | ClinVar dbSNP |
13 | g.110174650C>G | CA388664550 | COL4A1 | c.3298G>C (p.Gly1100Arg) c.3106G>C (p.Gly1036Arg) | |
13 | g.110174650C>T | CA388664551 | COL4A1 | c.3298G>A (p.Gly1100Arg) c.3106G>A (p.Gly1036Arg) | |
13 | g.110174651T>A | CA388664552 | COL4A1 | c.3297A>T (p.Lys1099Asn) c.3105A>T (p.Lys1035Asn) | |
13 | g.110174651T>C | CA484789360 | COL4A1 | c.3297A>G (p.Lys1099=) c.3105A>G (p.Lys1035=) | |
13 | g.110174651T>G | CA388664553 | COL4A1 | c.3297A>C (p.Lys1099Asn) c.3105A>C (p.Lys1035Asn) | |
13 | g.110174652T>A | CA388664555 | COL4A1 | c.3296A>T (p.Lys1099Ile) c.3104A>T (p.Lys1035Ile) | |
13 | g.110174652T>C | CA388664556 | COL4A1 | c.3296A>G (p.Lys1099Arg) c.3104A>G (p.Lys1035Arg) | |
13 | g.110174652T>G | CA388664554 | COL4A1 | c.3296A>C (p.Lys1099Thr) c.3104A>C (p.Lys1035Thr) | |
13 | g.110174653T>A | CA388664557 | COL4A1 | c.3295A>T (p.Lys1099Ter) c.3103A>T (p.Lys1035Ter) | |
13 | g.110174653T>C | CA388664558 | COL4A1 | c.3295A>G (p.Lys1099Glu) c.3103A>G (p.Lys1035Glu) | |
13 | g.110174653T>G | CA388664559 | COL4A1 | c.3295A>C (p.Lys1099Gln) c.3103A>C (p.Lys1035Gln) | |
13 | g.110174654A>C | CA484789361 | COL4A1 | c.3294T>G (p.Leu1098=) c.3102T>G (p.Leu1034=) | |
13 | g.110174654A>G | CA484789362 | COL4A1 | c.3294T>C (p.Leu1098=) c.3102T>C (p.Leu1034=) | gnomAD v4 |