Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.129280005G>A | CA146885158 | LAMA2 | c.2451-56G>A (n.2451-56G>A) c.2457-56G>A (n.2457-56G>A) c.582-56G>A (n.582-56G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.129280005G= | CA1663078504 | LAMA2 | c.2451-56G= (n.2451-56G=) c.2457-56G= (n.2457-56G=) c.582-56G= (n.582-56G=) | |
6 | g.129280005G>T | CA2680310203 | LAMA2 | c.2451-56G>T (n.2451-56G>T) c.2457-56G>T (n.2457-56G>T) c.582-56G>T (n.582-56G>T) | gnomAD v4 |
6 | g.129280006A>T | CA2712938061 | LAMA2 | c.2451-55A>T (n.2451-55A>T) c.2457-55A>T (n.2457-55A>T) c.582-55A>T (n.582-55A>T) | dbSNP |
6 | g.129280007C>A | CA2680310205 | LAMA2 | c.2451-54C>A (n.2451-54C>A) c.2457-54C>A (n.2457-54C>A) c.582-54C>A (n.582-54C>A) | gnomAD v4 |
6 | g.129280007C= | CA1663078506 | LAMA2 | c.2451-54C= (n.2451-54C=) c.2457-54C= (n.2457-54C=) c.582-54C= (n.582-54C=) | |
6 | g.129280007C>T | CA1663078507 | LAMA2 | c.2451-54C>T (n.2451-54C>T) c.2457-54C>T (n.2457-54C>T) c.582-54C>T (n.582-54C>T) | dbSNP gnomAD v4 |
6 | g.129280022_129280023insTCTTTGTGTATGTCCTT | CA2680310204 | LAMA2 | c.2451-39_2451-38insTCTTTGTGTATGTCCTT (n.2451-39_2451-38insTCTTTGTGTATGTCCTT) c.2457-39_2457-38insTCTTTGTGTATGTCCTT (n.2457-39_2457-38insTCTTTGTGTATGTCCTT) c.582-39_582-38insTCTTTGTGTATGTCCTT (n.582-39_582-38insTCTTTGTGTATGTCCTT) | gnomAD v4 |
6 | g.129280009T>A | CA146885159 | LAMA2 | c.2451-52T>A (n.2451-52T>A) c.2457-52T>A (n.2457-52T>A) c.582-52T>A (n.582-52T>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129280009T>G | CA2680310206 | LAMA2 | c.2451-52T>G (n.2451-52T>G) c.2457-52T>G (n.2457-52T>G) c.582-52T>G (n.582-52T>G) | gnomAD v4 |
6 | g.129280009T= | CA1663078508 | LAMA2 | c.2451-52T= (n.2451-52T=) c.2457-52T= (n.2457-52T=) c.582-52T= (n.582-52T=) | |
6 | g.129280010T>A | CA2773034077 | LAMA2 | c.2451-51T>A (n.2451-51T>A) c.2457-51T>A (n.2457-51T>A) c.582-51T>A (n.582-51T>A) | |
6 | g.129280010T>C | CA2680310207 | LAMA2 | c.2451-51T>C (n.2451-51T>C) c.2457-51T>C (n.2457-51T>C) c.582-51T>C (n.582-51T>C) | gnomAD v4 |
6 | g.129280011G>A | CA1663078513 | LAMA2 | c.2451-50G>A (n.2451-50G>A) c.2457-50G>A (n.2457-50G>A) c.582-50G>A (n.582-50G>A) | dbSNP |
6 | g.129280011G= | CA1663078512 | LAMA2 | c.2451-50G= (n.2451-50G=) c.2457-50G= (n.2457-50G=) c.582-50G= (n.582-50G=) | |
6 | g.129280015_129280018dup | CA2680310208 | LAMA2 | c.2451-46_2451-43dup (n.2451-46_2451-43dup) c.2457-46_2457-43dup (n.2457-46_2457-43dup) c.582-46_582-43dup (n.582-46_582-43dup) | gnomAD v4 |
6 | g.129280013G>A | CA3992944 | LAMA2 | c.2451-48G>A (n.2451-48G>A) c.2457-48G>A (n.2457-48G>A) c.582-48G>A (n.582-48G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129280013G= | CA1663078516 | LAMA2 | c.2451-48G= (n.2451-48G=) c.2457-48G= (n.2457-48G=) c.582-48G= (n.582-48G=) | |
6 | g.129280014T>G | CA146885162 | LAMA2 | c.2451-47T>G (n.2451-47T>G) c.2457-47T>G (n.2457-47T>G) c.582-47T>G (n.582-47T>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129280014T= | CA1663078517 | LAMA2 | c.2451-47T= (n.2451-47T=) c.2457-47T= (n.2457-47T=) c.582-47T= (n.582-47T=) | |
6 | g.129280015A= | CA1663078520 | LAMA2 | c.2451-46A= (n.2451-46A=) c.2457-46A= (n.2457-46A=) c.582-46A= (n.582-46A=) | |
6 | g.129280015A>G | CA818834705 | LAMA2 | c.2451-46A>G (n.2451-46A>G) c.2457-46A>G (n.2457-46A>G) c.582-46A>G (n.582-46A>G) | dbSNP gnomAD v4 |
6 | g.129280015A>T | CA2578736842 | LAMA2 | c.2451-46A>T (n.2451-46A>T) c.2457-46A>T (n.2457-46A>T) c.582-46A>T (n.582-46A>T) | |
6 | g.129280016T>C | CA570048002 | LAMA2 | c.2451-45T>C (n.2451-45T>C) c.2457-45T>C (n.2457-45T>C) c.582-45T>C (n.582-45T>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129280016T= | CA1663078525 | LAMA2 | c.2451-45T= (n.2451-45T=) c.2457-45T= (n.2457-45T=) c.582-45T= (n.582-45T=) | |
6 | g.129280017G>A | CA3992945 | LAMA2 | c.2451-44G>A (n.2451-44G>A) c.2457-44G>A (n.2457-44G>A) c.582-44G>A (n.582-44G>A) | dbSNP ExAC gnomAD v2 |
6 | g.129280017G>C | CA570048005 | LAMA2 | c.2451-44G>C (n.2451-44G>C) c.2457-44G>C (n.2457-44G>C) c.582-44G>C (n.582-44G>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129280017G= | CA1663078527 | LAMA2 | c.2451-44G= (n.2451-44G=) c.2457-44G= (n.2457-44G=) c.582-44G= (n.582-44G=) | |
6 | g.129280018T>A | CA2773034079 | LAMA2 | c.2451-43T>A (n.2451-43T>A) c.2457-43T>A (n.2457-43T>A) c.582-43T>A (n.582-43T>A) | |
6 | g.129280019C>A | CA2578736845 | LAMA2 | c.2451-42C>A (n.2451-42C>A) c.2457-42C>A (n.2457-42C>A) c.582-42C>A (n.582-42C>A) | gnomAD v4 |
6 | g.129280019C>G | CA2773034080 | LAMA2 | c.2451-42C>G (n.2451-42C>G) c.2457-42C>G (n.2457-42C>G) c.582-42C>G (n.582-42C>G) | |
6 | g.129280019C>T | CA2773034081 | LAMA2 | c.2451-42C>T (n.2451-42C>T) c.2457-42C>T (n.2457-42C>T) c.582-42C>T (n.582-42C>T) | |
6 | g.129280020C>A | CA2680310210 | LAMA2 | c.2451-41C>A (n.2451-41C>A) c.2457-41C>A (n.2457-41C>A) c.582-41C>A (n.582-41C>A) | gnomAD v4 |
6 | g.129280024_129280026del | CA2680310209 | LAMA2 | c.2451-37_2451-35del (n.2451-37_2451-35del) c.2457-37_2457-35del (n.2457-37_2457-35del) c.582-37_582-35del (n.582-37_582-35del) | gnomAD v4 |
6 | g.129280021T>G | CA2578736846 | LAMA2 | c.2451-40T>G (n.2451-40T>G) c.2457-40T>G (n.2457-40T>G) c.582-40T>G (n.582-40T>G) | |
6 | g.129280022T>A | CA2680310211 | LAMA2 | c.2451-39T>A (n.2451-39T>A) c.2457-39T>A (n.2457-39T>A) c.582-39T>A (n.582-39T>A) | gnomAD v4 |
6 | g.129280022T>C | CA2578736848 | LAMA2 | c.2451-39T>C (n.2451-39T>C) c.2457-39T>C (n.2457-39T>C) c.582-39T>C (n.582-39T>C) | |
6 | g.129280023C>A | CA3992946 | LAMA2 | c.2451-38C>A (n.2451-38C>A) c.2457-38C>A (n.2457-38C>A) c.582-38C>A (n.582-38C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129280023C= | CA1663078531 | LAMA2 | c.2451-38C= (n.2451-38C=) c.2457-38C= (n.2457-38C=) c.582-38C= (n.582-38C=) | |
6 | g.129280023C>T | CA2680310212 | LAMA2 | c.2451-38C>T (n.2451-38C>T) c.2457-38C>T (n.2457-38C>T) c.582-38C>T (n.582-38C>T) | gnomAD v4 |
6 | g.129280024T>C | CA3992947 | LAMA2 | c.2451-37T>C (n.2451-37T>C) c.2457-37T>C (n.2457-37T>C) c.582-37T>C (n.582-37T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129280024T= | CA1663078534 | LAMA2 | c.2451-37T= (n.2451-37T=) c.2457-37T= (n.2457-37T=) c.582-37T= (n.582-37T=) | |
6 | g.129280025T>C | CA2680310213 | LAMA2 | c.2451-36T>C (n.2451-36T>C) c.2457-36T>C (n.2457-36T>C) c.582-36T>C (n.582-36T>C) | gnomAD v4 |
6 | g.129280026C= | CA1663078536 | LAMA2 | c.2451-35C= (n.2451-35C=) c.2457-35C= (n.2457-35C=) c.582-35C= (n.582-35C=) | |
6 | g.129280026C>G | CA570048007 | LAMA2 | c.2451-35C>G (n.2451-35C>G) c.2457-35C>G (n.2457-35C>G) c.582-35C>G (n.582-35C>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129280027C>A | CA2680310214 | LAMA2 | c.2451-34C>A (n.2451-34C>A) c.2457-34C>A (n.2457-34C>A) c.582-34C>A (n.582-34C>A) | gnomAD v4 |
6 | g.129280027C= | CA1663078538 | LAMA2 | c.2451-34C= (n.2451-34C=) c.2457-34C= (n.2457-34C=) c.582-34C= (n.582-34C=) | |
6 | g.129280027C>T | CA570048010 | LAMA2 | c.2451-34C>T (n.2451-34C>T) c.2457-34C>T (n.2457-34C>T) c.582-34C>T (n.582-34C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129280029T>C | CA1663078542 | LAMA2 | c.2451-32T>C (n.2451-32T>C) c.2457-32T>C (n.2457-32T>C) c.582-32T>C (n.582-32T>C) | dbSNP gnomAD v4 |
6 | g.129280029T= | CA1663078541 | LAMA2 | c.2451-32T= (n.2451-32T=) c.2457-32T= (n.2457-32T=) c.582-32T= (n.582-32T=) | |
6 | g.129280030G>A | CA3992948 | LAMA2 | c.2451-31G>A (n.2451-31G>A) c.2457-31G>A (n.2457-31G>A) c.582-31G>A (n.582-31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129280030G= | CA1663078544 | LAMA2 | c.2451-31G= (n.2451-31G=) c.2457-31G= (n.2457-31G=) c.582-31G= (n.582-31G=) | |
6 | g.129280030G>T | CA3992949 | LAMA2 | c.2451-31G>T (n.2451-31G>T) c.2457-31G>T (n.2457-31G>T) c.582-31G>T (n.582-31G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129280031T>C | CA2680310215 | LAMA2 | c.2451-30T>C (n.2451-30T>C) c.2457-30T>C (n.2457-30T>C) c.582-30T>C (n.582-30T>C) | gnomAD v4 |
6 | g.129280032C>A | CA2680310217 | LAMA2 | c.2451-29C>A (n.2451-29C>A) c.2457-29C>A (n.2457-29C>A) c.582-29C>A (n.582-29C>A) | gnomAD v4 |
6 | g.129280032C= | CA1663078547 | LAMA2 | c.2451-29C= (n.2451-29C=) c.2457-29C= (n.2457-29C=) c.582-29C= (n.582-29C=) | |
6 | g.129280032C>T | CA1094378030 | LAMA2 | c.2451-29C>T (n.2451-29C>T) c.2457-29C>T (n.2457-29C>T) c.582-29C>T (n.582-29C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129280034del | CA2680310216 | LAMA2 | c.2451-27del (n.2451-27del) c.2457-27del (n.2457-27del) c.582-27del (n.582-27del) | gnomAD v4 |
6 | g.129280033C>A | CA570048022 | LAMA2 | c.2451-28C>A (n.2451-28C>A) c.2457-28C>A (n.2457-28C>A) c.582-28C>A (n.582-28C>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129280033C= | CA1663078548 | LAMA2 | c.2451-28C= (n.2451-28C=) c.2457-28C= (n.2457-28C=) c.582-28C= (n.582-28C=) | |
6 | g.129280034C>A | CA2578736850 | LAMA2 | c.2451-27C>A (n.2451-27C>A) c.2457-27C>A (n.2457-27C>A) c.582-27C>A (n.582-27C>A) | gnomAD v4 |
6 | g.129280034C>T | CA2578736851 | LAMA2 | c.2451-27C>T (n.2451-27C>T) c.2457-27C>T (n.2457-27C>T) c.582-27C>T (n.582-27C>T) | gnomAD v4 |
6 | g.129280035T>C | CA1663078550 | LAMA2 | c.2451-26T>C (n.2451-26T>C) c.2457-26T>C (n.2457-26T>C) c.582-26T>C (n.582-26T>C) | dbSNP gnomAD v4 |
6 | g.129280035T>G | CA1663078551 | LAMA2 | c.2451-26T>G (n.2451-26T>G) c.2457-26T>G (n.2457-26T>G) c.582-26T>G (n.582-26T>G) | dbSNP gnomAD v4 |
6 | g.129280035T= | CA1663078549 | LAMA2 | c.2451-26T= (n.2451-26T=) c.2457-26T= (n.2457-26T=) c.582-26T= (n.582-26T=) | |
6 | g.129280040del | CA2680310218 | LAMA2 | c.2451-21del (n.2451-21del) c.2457-21del (n.2457-21del) c.582-21del (n.582-21del) | gnomAD v4 |
6 | g.129280040T>A | CA2578736852 | LAMA2 | c.2451-21T>A (n.2451-21T>A) c.2457-21T>A (n.2457-21T>A) c.582-21T>A (n.582-21T>A) | |
6 | g.129280040T>C | CA2680310219 | LAMA2 | c.2451-21T>C (n.2451-21T>C) c.2457-21T>C (n.2457-21T>C) c.582-21T>C (n.582-21T>C) | gnomAD v4 |
6 | g.129280041C>A | CA2680310220 | LAMA2 | c.2451-20C>A (n.2451-20C>A) c.2457-20C>A (n.2457-20C>A) c.582-20C>A (n.582-20C>A) | gnomAD v4 |
6 | g.129280041C= | CA1663078553 | LAMA2 | c.2451-20C= (n.2451-20C=) c.2457-20C= (n.2457-20C=) c.582-20C= (n.582-20C=) | |
6 | g.129280041C>T | CA570048027 | LAMA2 | c.2451-20C>T (n.2451-20C>T) c.2457-20C>T (n.2457-20C>T) c.582-20C>T (n.582-20C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129280042del | CA2573140449 | LAMA2 | c.2451-19del (n.2451-19del) c.2457-19del (n.2457-19del) c.582-19del (n.582-19del) | ClinVar dbSNP gnomAD v4 |
6 | g.129280042C>A | CA2680310221 | LAMA2 | c.2451-19C>A (n.2451-19C>A) c.2457-19C>A (n.2457-19C>A) c.582-19C>A (n.582-19C>A) | gnomAD v4 |
6 | g.129280042C= | CA1663078556 | LAMA2 | c.2451-19C= (n.2451-19C=) c.2457-19C= (n.2457-19C=) c.582-19C= (n.582-19C=) | |
6 | g.129280042C>T | CA3992950 | LAMA2 | c.2451-19C>T (n.2451-19C>T) c.2457-19C>T (n.2457-19C>T) c.582-19C>T (n.582-19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129280043G>A | CA3992953 | LAMA2 | c.2451-18G>A (n.2451-18G>A) c.2457-18G>A (n.2457-18G>A) c.582-18G>A (n.582-18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129280043G= | CA1663078565 | LAMA2 | c.2451-18G= (n.2451-18G=) c.2457-18G= (n.2457-18G=) c.582-18G= (n.582-18G=) | |
6 | g.129280043G>T | CA3992951 | LAMA2 | c.2451-18G>T (n.2451-18G>T) c.2457-18G>T (n.2457-18G>T) c.582-18G>T (n.582-18G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129280043_129280046delinsGCAA | CA1663078570 | LAMA2 | c.2451-18_2451-15delinsGCAA (n.2451-18_2451-15delinsGCAA) c.2457-18_2457-15delinsGCAA (n.2457-18_2457-15delinsGCAA) c.582-18_582-15delinsGCAA (n.582-18_582-15delinsGCAA) | |
6 | g.129280044C>A | CA2578736862 | LAMA2 | c.2451-17C>A (n.2451-17C>A) c.2457-17C>A (n.2457-17C>A) c.582-17C>A (n.582-17C>A) | gnomAD v4 |
6 | g.129280044C>T | CA2680310222 | LAMA2 | c.2451-17C>T (n.2451-17C>T) c.2457-17C>T (n.2457-17C>T) c.582-17C>T (n.582-17C>T) | gnomAD v4 |
6 | g.129280049_129280051del | CA3992952 | LAMA2 | c.2451-12_2451-10del (n.2451-12_2451-10del) c.2457-12_2457-10del (n.2457-12_2457-10del) c.582-12_582-10del (n.582-12_582-10del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129280046A>T | CA2578736864 | LAMA2 | c.2451-15A>T (n.2451-15A>T) c.2457-15A>T (n.2457-15A>T) c.582-15A>T (n.582-15A>T) | |
6 | g.129280047C>A | CA2680310223 | LAMA2 | c.2451-14C>A (n.2451-14C>A) c.2457-14C>A (n.2457-14C>A) c.582-14C>A (n.582-14C>A) | gnomAD v4 |
6 | g.129280047C>G | CA2580075039 | LAMA2 | c.2451-14C>G (n.2451-14C>G) c.2457-14C>G (n.2457-14C>G) c.582-14C>G (n.582-14C>G) | ClinVar |
6 | g.129280049A= | CA1663078575 | LAMA2 | c.2451-12A= (n.2451-12A=) c.2457-12A= (n.2457-12A=) c.582-12A= (n.582-12A=) | |
6 | g.129280049A>C | CA570048038 | LAMA2 | c.2451-12A>C (n.2451-12A>C) c.2457-12A>C (n.2457-12A>C) c.582-12A>C (n.582-12A>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129280049A>G | CA2578736866 | LAMA2 | c.2451-12A>G (n.2451-12A>G) c.2457-12A>G (n.2457-12A>G) c.582-12A>G (n.582-12A>G) | gnomAD v4 |
6 | g.129280050C>A | CA2680310224 | LAMA2 | c.2451-11C>A (n.2451-11C>A) c.2457-11C>A (n.2457-11C>A) c.582-11C>A (n.582-11C>A) | gnomAD v4 |
6 | g.129280050C= | CA1663078577 | LAMA2 | c.2451-11C= (n.2451-11C=) c.2457-11C= (n.2457-11C=) c.582-11C= (n.582-11C=) | |
6 | g.129280050C>T | CA1094378042 | LAMA2 | c.2451-11C>T (n.2451-11C>T) c.2457-11C>T (n.2457-11C>T) c.582-11C>T (n.582-11C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129280051A>G | CA2680310225 | LAMA2 | c.2451-10A>G (n.2451-10A>G) c.2457-10A>G (n.2457-10A>G) c.582-10A>G (n.582-10A>G) | dbSNP gnomAD v4 |
6 | g.129280052T>A | CA2697553670 | LAMA2 | c.2451-9T>A (n.2451-9T>A) c.2457-9T>A (n.2457-9T>A) c.582-9T>A (n.582-9T>A) | ClinVar |
6 | g.129280053C>A | CA2680310226 | LAMA2 | c.2451-8C>A (n.2451-8C>A) c.2457-8C>A (n.2457-8C>A) c.582-8C>A (n.582-8C>A) | gnomAD v4 |
6 | g.129280053C= | CA1663078579 | LAMA2 | c.2451-8C= (n.2451-8C=) c.2457-8C= (n.2457-8C=) c.582-8C= (n.582-8C=) | |
6 | g.129280053C>T | CA570048041 | LAMA2 | c.2451-8C>T (n.2451-8C>T) c.2457-8C>T (n.2457-8C>T) c.582-8C>T (n.582-8C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.129280054A>T | CA2697553671 | LAMA2 | c.2451-7A>T (n.2451-7A>T) c.2457-7A>T (n.2457-7A>T) c.582-7A>T (n.582-7A>T) | ClinVar |
6 | g.129280055A= | CA1663078582 | LAMA2 | c.2451-6A= (n.2451-6A=) c.2457-6A= (n.2457-6A=) c.582-6A= (n.582-6A=) | |
6 | g.129280055A>C | CA2773034088 | LAMA2 | c.2451-6A>C (n.2451-6A>C) c.2457-6A>C (n.2457-6A>C) c.582-6A>C (n.582-6A>C) | |
6 | g.129280055A>G | CA146885219 | LAMA2 | c.2451-6A>G (n.2451-6A>G) c.2457-6A>G (n.2457-6A>G) c.582-6A>G (n.582-6A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129280056C>A | CA2680310227 | LAMA2 | c.2451-5C>A (n.2451-5C>A) c.2457-5C>A (n.2457-5C>A) c.582-5C>A (n.582-5C>A) | gnomAD v4 |
6 | g.129280056C= | CA1663078586 | LAMA2 | c.2451-5C= (n.2451-5C=) c.2457-5C= (n.2457-5C=) c.582-5C= (n.582-5C=) | |
6 | g.129280056C>T | CA570048043 | LAMA2 | c.2451-5C>T (n.2451-5C>T) c.2457-5C>T (n.2457-5C>T) c.582-5C>T (n.582-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.129280057A>G | CA2680310228 | LAMA2 | c.2451-4A>G (n.2451-4A>G) c.2457-4A>G (n.2457-4A>G) c.582-4A>G (n.582-4A>G) | gnomAD v4 |
6 | g.129280058T>A | CA570048045 | LAMA2 | c.2451-3T>A (n.2451-3T>A) c.2457-3T>A (n.2457-3T>A) c.582-3T>A (n.582-3T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129280058T= | CA1663078590 | LAMA2 | c.2451-3T= (n.2451-3T=) c.2457-3T= (n.2457-3T=) c.582-3T= (n.582-3T=) | |
6 | g.129280059A= | CA1663078599 | LAMA2 | c.2451-2A= (n.2451-2A=) c.2457-2A= (n.2457-2A=) c.582-2A= (n.582-2A=) | |
6 | g.129280059A>C | CA365609264 | LAMA2 | c.2451-2A>C (n.2451-2A>C) c.2457-2A>C (n.2457-2A>C) c.582-2A>C (n.582-2A>C) | gnomAD v4 |
6 | g.129280059A>G | CA3992954 | LAMA2 | c.2451-2A>G (n.2451-2A>G) c.2457-2A>G (n.2457-2A>G) c.582-2A>G (n.582-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129280059A>T | CA365609265 | LAMA2 | c.2451-2A>T (n.2451-2A>T) c.2457-2A>T (n.2457-2A>T) c.582-2A>T (n.582-2A>T) | |
6 | g.129280059_129280060del | CA913109512 | LAMA2 | c.2451-2_2451-1del (n.2451-2_2451-1del) c.2457-2_2457-1del (n.2457-2_2457-1del) c.582-2_582-1del (n.582-2_582-1del) | |
6 | g.129280059_129280060delinsAG | CA1663078596 | LAMA2 | c.2451-2_2451-1delinsAG (n.2451-2_2451-1delinsAG) c.2457-2_2457-1delinsAG (n.2457-2_2457-1delinsAG) c.582-2_582-1delinsAG (n.582-2_582-1delinsAG) | |
6 | g.129280060del | CA3992955 | LAMA2 | c.2451-1del (n.2451-1del) c.2457-1del (n.2457-1del) c.582-1del (n.582-1del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129280060G>A | CA365609266 | LAMA2 | c.2451-1G>A (n.2451-1G>A) c.2457-1G>A (n.2457-1G>A) c.582-1G>A (n.582-1G>A) | dbSNP |
6 | g.129280060G>C | CA365609267 | LAMA2 | c.2451-1G>C (n.2451-1G>C) c.2457-1G>C (n.2457-1G>C) c.582-1G>C (n.582-1G>C) | |
6 | g.129280060G= | CA1663078606 | LAMA2 | c.2451-1G= (n.2451-1G=) c.2457-1G= (n.2457-1G=) c.582-1G= (n.582-1G=) | |
6 | g.129280060G>T | CA365609268 | LAMA2 | c.2451-1G>T (n.2451-1G>T) c.2457-1G>T (n.2457-1G>T) c.582-1G>T (n.582-1G>T) | |
6 | g.129280061C>A | CA365609269 | LAMA2 | c.2451C>A (p.Asn817Lys) c.2457C>A (p.Asn819Lys) c.582C>A (p.Asn194Lys) | dbSNP |
6 | g.129280061C= | CA1663078615 | LAMA2 | c.2451C= (p.Asn817=) c.2457C= (p.Asn819=) c.582C= (p.Asn194=) | |
6 | g.129280061C>G | CA365609270 | LAMA2 | c.2451C>G (p.Asn817Lys) c.2457C>G (p.Asn819Lys) c.582C>G (p.Asn194Lys) | gnomAD v4 |
6 | g.129280061C>T | CA451935350 | LAMA2 | c.2451C>T (p.Asn817=) c.2457C>T (p.Asn819=) c.582C>T (p.Asn194=) | gnomAD v4 |
6 | g.129280062T>A | CA365609271 | LAMA2 | c.2452T>A (p.Phe818Ile) c.2458T>A (p.Phe820Ile) c.583T>A (p.Phe195Ile) | |
6 | g.129280062T>C | CA365609272 | LAMA2 | c.2452T>C (p.Phe818Leu) c.2458T>C (p.Phe820Leu) c.583T>C (p.Phe195Leu) | |
6 | g.129280062T>G | CA365609273 | LAMA2 | c.2452T>G (p.Phe818Val) c.2458T>G (p.Phe820Val) c.583T>G (p.Phe195Val) | |
6 | g.129280063T>A | CA365609274 | LAMA2 | c.2453T>A (p.Phe818Tyr) c.2459T>A (p.Phe820Tyr) c.584T>A (p.Phe195Tyr) | |
6 | g.129280063T>C | CA365609275 | LAMA2 | c.2453T>C (p.Phe818Ser) c.2459T>C (p.Phe820Ser) c.584T>C (p.Phe195Ser) | |
6 | g.129280063T>G | CA365609276 | LAMA2 | c.2453T>G (p.Phe818Cys) c.2459T>G (p.Phe820Cys) c.584T>G (p.Phe195Cys) | |
6 | g.129280064T>A | CA365609277 | LAMA2 | c.2454T>A (p.Phe818Leu) c.2460T>A (p.Phe820Leu) c.585T>A (p.Phe195Leu) | |
6 | g.129280064T>C | CA451935351 | LAMA2 | c.2454T>C (p.Phe818=) c.2460T>C (p.Phe820=) c.585T>C (p.Phe195=) | |
6 | g.129280064T>G | CA365609278 | LAMA2 | c.2454T>G (p.Phe818Leu) c.2460T>G (p.Phe820Leu) c.585T>G (p.Phe195Leu) | |
6 | g.129280065A>C | CA365609279 | LAMA2 | c.2455A>C (p.Ser819Arg) c.2461A>C (p.Ser821Arg) c.586A>C (p.Ser196Arg) | |
6 | g.129280065A>G | CA365609280 | LAMA2 | c.2455A>G (p.Ser819Gly) c.2461A>G (p.Ser821Gly) c.586A>G (p.Ser196Gly) | |
6 | g.129280065A>T | CA365609281 | LAMA2 | c.2455A>T (p.Ser819Cys) c.2461A>T (p.Ser821Cys) c.586A>T (p.Ser196Cys) | |
6 | g.129280066G>A | CA365609283 | LAMA2 | c.2456G>A (p.Ser819Asn) c.2462G>A (p.Ser821Asn) c.587G>A (p.Ser196Asn) | |
6 | g.129280066G>C | CA365609284 | LAMA2 | c.2456G>C (p.Ser819Thr) c.2462G>C (p.Ser821Thr) c.587G>C (p.Ser196Thr) | |
6 | g.129280066G>T | CA365609282 | LAMA2 | c.2456G>T (p.Ser819Ile) c.2462G>T (p.Ser821Ile) c.587G>T (p.Ser196Ile) | |
6 | g.129280067C>A | CA365609285 | LAMA2 | c.2457C>A (p.Ser819Arg) c.2463C>A (p.Ser821Arg) c.588C>A (p.Ser196Arg) | |
6 | g.129280067C>G | CA365609286 | LAMA2 | c.2457C>G (p.Ser819Arg) c.2463C>G (p.Ser821Arg) c.588C>G (p.Ser196Arg) | |
6 | g.129280067C>T | CA451935352 | LAMA2 | c.2457C>T (p.Ser819=) c.2463C>T (p.Ser821=) c.588C>T (p.Ser196=) | gnomAD v4 |
6 | g.129280069del | CA2680310229 | LAMA2 | c.2459del (p.Pro820GlnfsTer5) c.2465del (p.Pro822GlnfsTer5) c.590del (p.Pro197GlnfsTer5) | gnomAD v4 |
6 | g.129280068C>A | CA365609287 | LAMA2 | c.2458C>A (p.Pro820Thr) c.2464C>A (p.Pro822Thr) c.589C>A (p.Pro197Thr) | gnomAD v4 |
6 | g.129280068C= | CA1663078618 | LAMA2 | c.2458C= (p.Pro820=) c.2464C= (p.Pro822=) c.589C= (p.Pro197=) | |
6 | g.129280068C>G | CA365609288 | LAMA2 | c.2458C>G (p.Pro820Ala) c.2464C>G (p.Pro822Ala) c.589C>G (p.Pro197Ala) | |
6 | g.129280068C>T | CA146885229 | LAMA2 | c.2458C>T (p.Pro820Ser) c.2464C>T (p.Pro822Ser) c.589C>T (p.Pro197Ser) | dbSNP gnomAD v4 |
6 | g.129280069C>A | CA365609289 | LAMA2 | c.2459C>A (p.Pro820Gln) c.2465C>A (p.Pro822Gln) c.590C>A (p.Pro197Gln) | |
6 | g.129280069C>G | CA365609290 | LAMA2 | c.2459C>G (p.Pro820Arg) c.2465C>G (p.Pro822Arg) c.590C>G (p.Pro197Arg) | |
6 | g.129280069C>T | CA365609291 | LAMA2 | c.2459C>T (p.Pro820Leu) c.2465C>T (p.Pro822Leu) c.590C>T (p.Pro197Leu) | |
6 | g.129280070A>C | CA451935353 | LAMA2 | c.2460A>C (p.Pro820=) c.2466A>C (p.Pro822=) c.591A>C (p.Pro197=) | |
6 | g.129280070A>G | CA451935354 | LAMA2 | c.2460A>G (p.Pro820=) c.2466A>G (p.Pro822=) c.591A>G (p.Pro197=) | gnomAD v4 |
6 | g.129280070A>T | CA451935355 | LAMA2 | c.2460A>T (p.Pro820=) c.2466A>T (p.Pro822=) c.591A>T (p.Pro197=) | |
6 | g.129280071A= | CA1663078624 | LAMA2 | c.2461A= (p.Thr821=) c.2467A= (p.Thr823=) c.592A= (p.Thr198=) | |
6 | g.129280071A>C | CA051537 | LAMA2 | c.2461A>C (p.Thr821Pro) c.2467A>C (p.Thr823Pro) c.592A>C (p.Thr198Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.[129280071A>C;129502696T>C] | CA052035 | LAMA2 | c.[2461A>C;8270T>C] (p.[Thr821Pro;Ile2757Thr]) c.[2461A>C;8546T>C] (p.[Thr821Pro;Ile2849Thr]) c.[2461A>C;8282T>C] (p.[Thr821Pro;Ile2761Thr]) c.[2461A>C;8279T>C] (p.[Thr821Pro;Ile2760Thr]) c.[2461A>C;8534T>C] (p.[Thr821Pro;Ile2845Thr]) c.[2461A>C;8540T>C] (p.[Thr821Pro;Ile2847Thr]) c.[2467A>C;8552T>C] (p.[Thr823Pro;Ile2851Thr]) c.[592A>C;6677T>C] (p.[Thr198Pro;Ile2226Thr]) | |
6 | g.129280071A>G | CA3992956 | LAMA2 | c.2461A>G (p.Thr821Ala) c.2467A>G (p.Thr823Ala) c.592A>G (p.Thr198Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129280071A>T | CA365609292 | LAMA2 | c.2461A>T (p.Thr821Ser) c.2467A>T (p.Thr823Ser) c.592A>T (p.Thr198Ser) | |
6 | g.129280071_129280086del | CA2580075040 | LAMA2 | c.2461_2476del (p.Thr821GlyfsTer5) c.2467_2482del (p.Thr823GlyfsTer5) c.592_607del (p.Thr198GlyfsTer5) | ClinVar |
6 | g.129280072C>A | CA365609293 | LAMA2 | c.2462C>A (p.Thr821Lys) c.2468C>A (p.Thr823Lys) c.593C>A (p.Thr198Lys) | gnomAD v4 |
6 | g.129280072C= | CA1663078631 | LAMA2 | c.2462C= (p.Thr821=) c.2468C= (p.Thr823=) c.593C= (p.Thr198=) | |
6 | g.129280072C>G | CA365609294 | LAMA2 | c.2462C>G (p.Thr821Arg) c.2468C>G (p.Thr823Arg) c.593C>G (p.Thr198Arg) | |
6 | g.129280072C>T | CA295413 | LAMA2 | c.2462C>T (p.Thr821Met) c.2468C>T (p.Thr823Met) c.593C>T (p.Thr198Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129280073G>A | CA3992957 | LAMA2 | c.2463G>A (p.Thr821=) c.2469G>A (p.Thr823=) c.594G>A (p.Thr198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129280073G>C | CA451935356 | LAMA2 | c.2463G>C (p.Thr821=) c.2469G>C (p.Thr823=) c.594G>C (p.Thr198=) | |
6 | g.129280073G= | CA1663078637 | LAMA2 | c.2463G= (p.Thr821=) c.2469G= (p.Thr823=) c.594G= (p.Thr198=) | |
6 | g.129280073G>T | CA451935357 | LAMA2 | c.2463G>T (p.Thr821=) c.2469G>T (p.Thr823=) c.594G>T (p.Thr198=) | ClinVar dbSNP |
6 | g.129280074T>A | CA365609295 | LAMA2 | c.2464T>A (p.Cys822Ser) c.2470T>A (p.Cys824Ser) c.595T>A (p.Cys199Ser) | |
6 | g.129280074T>C | CA365609296 | LAMA2 | c.2464T>C (p.Cys822Arg) c.2470T>C (p.Cys824Arg) c.595T>C (p.Cys199Arg) | |
6 | g.129280074T>G | CA365609297 | LAMA2 | c.2464T>G (p.Cys822Gly) c.2470T>G (p.Cys824Gly) c.595T>G (p.Cys199Gly) | |
6 | g.129280075G>A | CA365609298 | LAMA2 | c.2465G>A (p.Cys822Tyr) c.2471G>A (p.Cys824Tyr) c.596G>A (p.Cys199Tyr) | gnomAD v4 |
6 | g.129280075G>C | CA365609299 | LAMA2 | c.2465G>C (p.Cys822Ser) c.2471G>C (p.Cys824Ser) c.596G>C (p.Cys199Ser) | |
6 | g.129280075G= | CA1663078640 | LAMA2 | c.2465G= (p.Cys822=) c.2471G= (p.Cys824=) c.596G= (p.Cys199=) | |
6 | g.129280075G>T | CA3992958 | LAMA2 | c.2465G>T (p.Cys822Phe) c.2471G>T (p.Cys824Phe) c.596G>T (p.Cys199Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.129280076C>A | CA365609300 | LAMA2 | c.2466C>A (p.Cys822Ter) c.2472C>A (p.Cys824Ter) c.597C>A (p.Cys199Ter) | gnomAD v4 |
6 | g.129280076C>G | CA365609301 | LAMA2 | c.2466C>G (p.Cys822Trp) c.2472C>G (p.Cys824Trp) c.597C>G (p.Cys199Trp) | |
6 | g.129280076C>T | CA451935358 | LAMA2 | c.2466C>T (p.Cys822=) c.2472C>T (p.Cys824=) c.597C>T (p.Cys199=) | |
6 | g.129280077C>A | CA365609302 | LAMA2 | c.2467C>A (p.His823Asn) c.2473C>A (p.His825Asn) c.598C>A (p.His200Asn) | |
6 | g.129280077C>G | CA365609303 | LAMA2 | c.2467C>G (p.His823Asp) c.2473C>G (p.His825Asp) c.598C>G (p.His200Asp) | gnomAD v4 |
6 | g.129280077C>T | CA365609304 | LAMA2 | c.2467C>T (p.His823Tyr) c.2473C>T (p.His825Tyr) c.598C>T (p.His200Tyr) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129280078A= | CA1663078646 | LAMA2 | c.2468A= (p.His823=) c.2474A= (p.His825=) c.599A= (p.His200=) | |
6 | g.129280078A>C | CA365609305 | LAMA2 | c.2468A>C (p.His823Pro) c.2474A>C (p.His825Pro) c.599A>C (p.His200Pro) | |
6 | g.129280078A>G | CA365609306 | LAMA2 | c.2468A>G (p.His823Arg) c.2474A>G (p.His825Arg) c.599A>G (p.His200Arg) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129280078A>T | CA365609307 | LAMA2 | c.2468A>T (p.His823Leu) c.2474A>T (p.His825Leu) c.599A>T (p.His200Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.129280079T>A | CA365609308 | LAMA2 | c.2469T>A (p.His823Gln) c.2475T>A (p.His825Gln) c.600T>A (p.His200Gln) | |
6 | g.129280079T>C | CA451935362 | LAMA2 | c.2469T>C (p.His823=) c.2475T>C (p.His825=) c.600T>C (p.His200=) | |
6 | g.129280079T>G | CA365609309 | LAMA2 | c.2469T>G (p.His823Gln) c.2475T>G (p.His825Gln) c.600T>G (p.His200Gln) | |
6 | g.129280080T>A | CA365609310 | LAMA2 | c.2470T>A (p.Leu824Ile) c.2476T>A (p.Leu826Ile) c.601T>A (p.Leu201Ile) | |
6 | g.129280080T>C | CA451935363 | LAMA2 | c.2470T>C (p.Leu824=) c.2476T>C (p.Leu826=) c.601T>C (p.Leu201=) | |
6 | g.129280080T>G | CA365609311 | LAMA2 | c.2470T>G (p.Leu824Val) c.2476T>G (p.Leu826Val) c.601T>G (p.Leu201Val) | |
6 | g.129280081T>A | CA365609312 | LAMA2 | c.2471T>A (p.Leu824Ter) c.2477T>A (p.Leu826Ter) c.602T>A (p.Leu201Ter) | ClinVar |
6 | g.129280081T>C | CA365609314 | LAMA2 | c.2471T>C (p.Leu824Ser) c.2477T>C (p.Leu826Ser) c.602T>C (p.Leu201Ser) | gnomAD v4 |
6 | g.129280081T>G | CA365609313 | LAMA2 | c.2471T>G (p.Leu824Ter) c.2477T>G (p.Leu826Ter) c.602T>G (p.Leu201Ter) | |
6 | g.129280082A>C | CA365609315 | LAMA2 | c.2472A>C (p.Leu824Phe) c.2478A>C (p.Leu826Phe) c.603A>C (p.Leu201Phe) | |
6 | g.129280082A>G | CA451935367 | LAMA2 | c.2472A>G (p.Leu824=) c.2478A>G (p.Leu826=) c.603A>G (p.Leu201=) | |
6 | g.129280082A>T | CA365609316 | LAMA2 | c.2472A>T (p.Leu824Phe) c.2478A>T (p.Leu826Phe) c.603A>T (p.Leu201Phe) | |
6 | g.129280083G>A | CA365609317 | LAMA2 | c.2473G>A (p.Asp825Asn) c.2479G>A (p.Asp827Asn) c.604G>A (p.Asp202Asn) | |
6 | g.129280083G>C | CA365609318 | LAMA2 | c.2473G>C (p.Asp825His) c.2479G>C (p.Asp827His) c.604G>C (p.Asp202His) | |
6 | g.129280083G>T | CA365609319 | LAMA2 | c.2473G>T (p.Asp825Tyr) c.2479G>T (p.Asp827Tyr) c.604G>T (p.Asp202Tyr) | COSMIC |
6 | g.129280084A>C | CA365609320 | LAMA2 | c.2474A>C (p.Asp825Ala) c.2480A>C (p.Asp827Ala) c.605A>C (p.Asp202Ala) | |
6 | g.129280084A>G | CA365609321 | LAMA2 | c.2474A>G (p.Asp825Gly) c.2480A>G (p.Asp827Gly) c.605A>G (p.Asp202Gly) | |
6 | g.129280084A>T | CA365609322 | LAMA2 | c.2474A>T (p.Asp825Val) c.2480A>T (p.Asp827Val) c.605A>T (p.Asp202Val) | |
6 | g.129280085C>A | CA365609323 | LAMA2 | c.2475C>A (p.Asp825Glu) c.2481C>A (p.Asp827Glu) c.606C>A (p.Asp202Glu) | |
6 | g.129280085C>G | CA365609324 | LAMA2 | c.2475C>G (p.Asp825Glu) c.2481C>G (p.Asp827Glu) c.606C>G (p.Asp202Glu) | |
6 | g.129280085C>T | CA451935369 | LAMA2 | c.2475C>T (p.Asp825=) c.2481C>T (p.Asp827=) c.606C>T (p.Asp202=) | |
6 | g.129280086C>A | CA451935370 | LAMA2 | c.2476C>A (p.Arg826=) c.2482C>A (p.Arg828=) c.607C>A (p.Arg203=) | ClinVar dbSNP gnomAD v4 |
6 | g.129280086C= | CA1663078653 | LAMA2 | c.2476C= (p.Arg826=) c.2482C= (p.Arg828=) c.607C= (p.Arg203=) | |
6 | g.129280086C>G | CA365609325 | LAMA2 | c.2476C>G (p.Arg826Gly) c.2482C>G (p.Arg828Gly) c.607C>G (p.Arg203Gly) | |
6 | g.129280086C>T | CA180154 | LAMA2 | c.2476C>T (p.Arg826Trp) c.2482C>T (p.Arg828Trp) c.607C>T (p.Arg203Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.129280087G>A | CA3992959 | LAMA2 | c.2477G>A (p.Arg826Gln) c.2483G>A (p.Arg828Gln) c.608G>A (p.Arg203Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129280087G>C | CA365609326 | LAMA2 | c.2477G>C (p.Arg826Pro) c.2483G>C (p.Arg828Pro) c.608G>C (p.Arg203Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.129280087G= | CA1663078667 | LAMA2 | c.2477G= (p.Arg826=) c.2483G= (p.Arg828=) c.608G= (p.Arg203=) | |
6 | g.129280087G>T | CA365609327 | LAMA2 | c.2477G>T (p.Arg826Leu) c.2483G>T (p.Arg828Leu) c.608G>T (p.Arg203Leu) | |
6 | g.129280088G>A | CA451935371 | LAMA2 | c.2478G>A (p.Arg826=) c.2484G>A (p.Arg828=) c.609G>A (p.Arg203=) | |
6 | g.129280088G>C | CA451935373 | LAMA2 | c.2478G>C (p.Arg826=) c.2484G>C (p.Arg828=) c.609G>C (p.Arg203=) | |
6 | g.129280088G>T | CA451935372 | LAMA2 | c.2478G>T (p.Arg826=) c.2484G>T (p.Arg828=) c.609G>T (p.Arg203=) | |
6 | g.129280089A>C | CA365609328 | LAMA2 | c.2479A>C (p.Ser827Arg) c.2485A>C (p.Ser829Arg) c.610A>C (p.Ser204Arg) | |
6 | g.129280089A>G | CA365609329 | LAMA2 | c.2479A>G (p.Ser827Gly) c.2485A>G (p.Ser829Gly) c.610A>G (p.Ser204Gly) | |
6 | g.129280089A>T | CA365609330 | LAMA2 | c.2479A>T (p.Ser827Cys) c.2485A>T (p.Ser829Cys) c.610A>T (p.Ser204Cys) | COSMIC |
6 | g.129280090G>A | CA365609331 | LAMA2 | c.2480G>A (p.Ser827Asn) c.2486G>A (p.Ser829Asn) c.611G>A (p.Ser204Asn) | |
6 | g.129280090G>C | CA365609332 | LAMA2 | c.2480G>C (p.Ser827Thr) c.2486G>C (p.Ser829Thr) c.611G>C (p.Ser204Thr) | |
6 | g.129280090G>T | CA365609333 | LAMA2 | c.2480G>T (p.Ser827Ile) c.2486G>T (p.Ser829Ile) c.611G>T (p.Ser204Ile) | |
6 | g.129280091T>A | CA365609334 | LAMA2 | c.2481T>A (p.Ser827Arg) c.2487T>A (p.Ser829Arg) c.612T>A (p.Ser204Arg) | gnomAD v4 |
6 | g.129280091T>C | CA451935374 | LAMA2 | c.2481T>C (p.Ser827=) c.2487T>C (p.Ser829=) c.612T>C (p.Ser204=) | |
6 | g.129280091T>G | CA365609335 | LAMA2 | c.2481T>G (p.Ser827Arg) c.2487T>G (p.Ser829Arg) c.612T>G (p.Ser204Arg) | |
6 | g.129280092C>A | CA365609336 | LAMA2 | c.2482C>A (p.Leu828Ile) c.2488C>A (p.Leu830Ile) c.613C>A (p.Leu205Ile) | |
6 | g.129280092C= | CA1663078674 | LAMA2 | c.2482C= (p.Leu828=) c.2488C= (p.Leu830=) c.613C= (p.Leu205=) | |
6 | g.129280092C>G | CA365609337 | LAMA2 | c.2482C>G (p.Leu828Val) c.2488C>G (p.Leu830Val) c.613C>G (p.Leu205Val) | |
6 | g.129280092C>T | CA365609338 | LAMA2 | c.2482C>T (p.Leu828Phe) c.2488C>T (p.Leu830Phe) c.613C>T (p.Leu205Phe) | dbSNP |
6 | g.129280093T>A | CA365609340 | LAMA2 | c.2483T>A (p.Leu828His) c.2489T>A (p.Leu830His) c.614T>A (p.Leu205His) | |
6 | g.129280093T>C | CA3992960 | LAMA2 | c.2483T>C (p.Leu828Pro) c.2489T>C (p.Leu830Pro) c.614T>C (p.Leu205Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129280093T>G | CA365609339 | LAMA2 | c.2483T>G (p.Leu828Arg) c.2489T>G (p.Leu830Arg) c.614T>G (p.Leu205Arg) | |
6 | g.129280093T= | CA1663078676 | LAMA2 | c.2483T= (p.Leu828=) c.2489T= (p.Leu830=) c.614T= (p.Leu205=) | |
6 | g.129280094T>A | CA451935375 | LAMA2 | c.2484T>A (p.Leu828=) c.2490T>A (p.Leu830=) c.615T>A (p.Leu205=) | gnomAD v4 |
6 | g.129280094T>C | CA451935376 | LAMA2 | c.2484T>C (p.Leu828=) c.2490T>C (p.Leu830=) c.615T>C (p.Leu205=) | gnomAD v4 |
6 | g.129280094T>G | CA451935377 | LAMA2 | c.2484T>G (p.Leu828=) c.2490T>G (p.Leu830=) c.615T>G (p.Leu205=) | |
6 | g.129280095G>A | CA365609342 | LAMA2 | c.2485G>A (p.Gly829Arg) c.2491G>A (p.Gly831Arg) c.616G>A (p.Gly206Arg) | gnomAD v4 |
6 | g.129280095G>C | CA3992961 | LAMA2 | c.2485G>C (p.Gly829Arg) c.2491G>C (p.Gly831Arg) c.616G>C (p.Gly206Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129280095G= | CA1663078679 | LAMA2 | c.2485G= (p.Gly829=) c.2491G= (p.Gly831=) c.616G= (p.Gly206=) | |
6 | g.129280095G>T | CA365609341 | LAMA2 | c.2485G>T (p.Gly829Ter) c.2491G>T (p.Gly831Ter) c.616G>T (p.Gly206Ter) | |
6 | g.129280096G>A | CA365609343 | LAMA2 | c.2486G>A (p.Gly829Glu) c.2492G>A (p.Gly831Glu) c.617G>A (p.Gly206Glu) | gnomAD v4 |
6 | g.129280096G>C | CA365609344 | LAMA2 | c.2486G>C (p.Gly829Ala) c.2492G>C (p.Gly831Ala) c.617G>C (p.Gly206Ala) | |
6 | g.129280096G= | CA1663078682 | LAMA2 | c.2486G= (p.Gly829=) c.2492G= (p.Gly831=) c.617G= (p.Gly206=) | |
6 | g.129280096G>T | CA365609345 | LAMA2 | c.2486G>T (p.Gly829Val) c.2492G>T (p.Gly831Val) c.617G>T (p.Gly206Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.129280097A>C | CA451935378 | LAMA2 | c.2487A>C (p.Gly829=) c.2493A>C (p.Gly831=) c.618A>C (p.Gly206=) | |
6 | g.129280097A>G | CA451935379 | LAMA2 | c.2487A>G (p.Gly829=) c.2493A>G (p.Gly831=) c.618A>G (p.Gly206=) | ClinVar dbSNP |
6 | g.129280097A>T | CA451935380 | LAMA2 | c.2487A>T (p.Gly829=) c.2493A>T (p.Gly831=) c.618A>T (p.Gly206=) | |
6 | g.129280098T>A | CA365609346 | LAMA2 | c.2488T>A (p.Leu830Met) c.2494T>A (p.Leu832Met) c.619T>A (p.Leu207Met) | gnomAD v4 |
6 | g.129280098T>C | CA3992962 | LAMA2 | c.2488T>C (p.Leu830=) c.2494T>C (p.Leu832=) c.619T>C (p.Leu207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129280098T>G | CA365609347 | LAMA2 | c.2488T>G (p.Leu830Val) c.2494T>G (p.Leu832Val) c.619T>G (p.Leu207Val) | ClinVar dbSNP |
6 | g.129280098T= | CA1663078687 | LAMA2 | c.2488T= (p.Leu830=) c.2494T= (p.Leu832=) c.619T= (p.Leu207=) | |
6 | g.129280099T>A | CA365609348 | LAMA2 | c.2489T>A (p.Leu830Ter) c.2495T>A (p.Leu832Ter) c.620T>A (p.Leu207Ter) | |
6 | g.129280099T>C | CA365609349 | LAMA2 | c.2489T>C (p.Leu830Ser) c.2495T>C (p.Leu832Ser) c.620T>C (p.Leu207Ser) | |
6 | g.129280099T>G | CA365609350 | LAMA2 | c.2489T>G (p.Leu830Trp) c.2495T>G (p.Leu832Trp) c.620T>G (p.Leu207Trp) | |
6 | g.129280100G>A | CA451935381 | LAMA2 | c.2490G>A (p.Leu830=) c.2496G>A (p.Leu832=) c.621G>A (p.Leu207=) | |
6 | g.129280100G>C | CA365609351 | LAMA2 | c.2490G>C (p.Leu830Phe) c.2496G>C (p.Leu832Phe) c.621G>C (p.Leu207Phe) | |
6 | g.129280100G>T | CA365609352 | LAMA2 | c.2490G>T (p.Leu830Phe) c.2496G>T (p.Leu832Phe) c.621G>T (p.Leu207Phe) | |
6 | g.129280101A= | CA1663078695 | LAMA2 | c.2491A= (p.Ile831=) c.2497A= (p.Ile833=) c.622A= (p.Ile208=) | |
6 | g.129280101A>C | CA365609355 | LAMA2 | c.2491A>C (p.Ile831Leu) c.2497A>C (p.Ile833Leu) c.622A>C (p.Ile208Leu) | |
6 | g.129280101A>G | CA365609353 | LAMA2 | c.2491A>G (p.Ile831Val) c.2497A>G (p.Ile833Val) c.622A>G (p.Ile208Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129280101A>T | CA365609354 | LAMA2 | c.2491A>T (p.Ile831Phe) c.2497A>T (p.Ile833Phe) c.622A>T (p.Ile208Phe) | |
6 | g.129280102T>A | CA365609356 | LAMA2 | c.2492T>A (p.Ile831Asn) c.2498T>A (p.Ile833Asn) c.623T>A (p.Ile208Asn) | gnomAD v4 |
6 | g.129280102T>C | CA365609357 | LAMA2 | c.2492T>C (p.Ile831Thr) c.2498T>C (p.Ile833Thr) c.623T>C (p.Ile208Thr) | |
6 | g.129280102T>G | CA365609358 | LAMA2 | c.2492T>G (p.Ile831Ser) c.2498T>G (p.Ile833Ser) c.623T>G (p.Ile208Ser) | |
6 | g.129280102_129280103delinsTC | CA1663078702 | LAMA2 | c.2492_2493delinsTC (p.Ile831=) c.2498_2499delinsTC (p.Ile833=) c.623_624delinsTC (p.Ile208=) | |
6 | g.129280103del | CA1663078705 | LAMA2 | c.2493del (p.Cys832ValfsTer?) c.2499del (p.Cys834ValfsTer?) c.624del (p.Cys209ValfsTer?) | dbSNP |
6 | g.129280103C>A | CA451935382 | LAMA2 | c.2493C>A (p.Ile831=) c.2499C>A (p.Ile833=) c.624C>A (p.Ile208=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129280103C= | CA1663078706 | LAMA2 | c.2493C= (p.Ile831=) c.2499C= (p.Ile833=) c.624C= (p.Ile208=) | |
6 | g.129280103C>G | CA365609359 | LAMA2 | c.2493C>G (p.Ile831Met) c.2499C>G (p.Ile833Met) c.624C>G (p.Ile208Met) | |
6 | g.129280103C>T | CA146885263 | LAMA2 | c.2493C>T (p.Ile831=) c.2499C>T (p.Ile833=) c.624C>T (p.Ile208=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129280104T>A | CA365609360 | LAMA2 | c.2494T>A (p.Cys832Ser) c.2500T>A (p.Cys834Ser) c.625T>A (p.Cys209Ser) | |
6 | g.129280104T>C | CA365609361 | LAMA2 | c.2494T>C (p.Cys832Arg) c.2500T>C (p.Cys834Arg) c.625T>C (p.Cys209Arg) | |
6 | g.129280104T>G | CA365609362 | LAMA2 | c.2494T>G (p.Cys832Gly) c.2500T>G (p.Cys834Gly) c.625T>G (p.Cys209Gly) | |
6 | g.129280105G>A | CA365609363 | LAMA2 | c.2495G>A (p.Cys832Tyr) c.2501G>A (p.Cys834Tyr) c.626G>A (p.Cys209Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129280105G>C | CA365609364 | LAMA2 | c.2495G>C (p.Cys832Ser) c.2501G>C (p.Cys834Ser) c.626G>C (p.Cys209Ser) | |
6 | g.129280105G= | CA1663078711 | LAMA2 | c.2495G= (p.Cys832=) c.2501G= (p.Cys834=) c.626G= (p.Cys209=) | |
6 | g.129280105G>T | CA365609365 | LAMA2 | c.2495G>T (p.Cys832Phe) c.2501G>T (p.Cys834Phe) c.626G>T (p.Cys209Phe) |